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 AGRN 375790 broad.mit.edu 37 1 979595 979595 + Silent SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:979595G>T uc001ack.1 + 11 2156 c.2106G>T c.(2104-2106)CCG>CCT p.P702P NM_198576 NP_940978 O00468 AGRIN_HUMAN agrin precursor 702 Kazal-like 8. axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering basal lamina laminin binding|structural constituent of cytoskeleton central_nervous_system(2)|breast(1) 3 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201) AGGACGGGCCGTGTGTCTGTG 0.711 NA 19 78 7.41877e-09 1.12974e-08 0.001882 1 0 MIB2 142678 broad.mit.edu 37 1 1563448 1563448 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:1563448G>T uc001agg.2 + 14 2031 c.1904G>T c.(1903-1905)GGA>GTA p.G635V MIB2_uc001agh.2_Missense_Mutation_p.G621V|MIB2_uc001agi.2_Missense_Mutation_p.G631V|MIB2_uc001agj.2_Missense_Mutation_p.G476V|MIB2_uc001agk.2_Missense_Mutation_p.G570V|MIB2_uc001agl.1_Missense_Mutation_p.G591V|MIB2_uc001agm.2_Missense_Mutation_p.G512V|MIB2_uc010nyq.1_Missense_Mutation_p.G591V|MIB2_uc009vkh.2_Missense_Mutation_p.G441V|MIB2_uc001agn.2_Missense_Mutation_p.G267V|MIB2_uc001ago.2_5'Flank NM_080875 NP_543151 Q96AX9 MIB2_HUMAN mindbomb homolog 2 635 ANK 4. Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade endosome actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding 0 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) GCGGGCACTGGAGCCAGCGGC 0.642 NA 9 28 5.4927e-09 8.40171e-09 0.004482 1 0 MORN1 79906 broad.mit.edu 37 1 2317245 2317245 + Splice_Site SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:2317245C>A uc001ajb.1 - 5 470 c.449_splice c.e5+1 p.Q150_splice MORN1_uc009vld.2_Splice_Site_p.Q126_splice|MORN1_uc001ajd.1_Splice_Site_p.Q150_splice|MORN1_uc010nyy.1_Splice_Site_p.R93_splice NM_024848 NP_079124 Q5T089 MORN1_HUMAN MORN repeat containing 1 ovary(2)|central_nervous_system(1) 3 all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212) CTCATACTCACTGAAAGAGCA 0.582 NA 17 61 1.96292e-10 3.16092e-10 0.001523 1 0 PLCH2 9651 broad.mit.edu 37 1 2428140 2428140 + Nonsense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:2428140G>T uc001aji.1 + 14 2204 c.1930G>T c.(1930-1932)GAG>TAG p.E644* PLCH2_uc010nyz.1_Nonsense_Mutation_p.E432*|PLCH2_uc009vle.1_Nonsense_Mutation_p.E432*|PLCH2_uc001ajj.1_Nonsense_Mutation_p.E432*|PLCH2_uc001ajk.1_Nonsense_Mutation_p.E432*|PLCH2_uc001ajl.1_5'Flank NM_014638 NP_055453 O75038 PLCH2_HUMAN phospholipase C, eta 2 644 PI-PLC Y-box. intracellular signal transduction|lipid catabolic process cytoplasm|plasma membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity central_nervous_system(3)|ovary(1)|skin(1) 5 all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2) CATAGAGATGGAGGGTGAGTG 0.672 NA 7 4 0.00621372 0.00712032 0.006214 1 0 CAMTA1 23261 broad.mit.edu 37 1 7527927 7527927 + Missense_Mutation SNP C C T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:7527927C>T uc001aoi.2 + 6 683 c.476C>T c.(475-477)CCC>CTC p.P159L NM_015215 NP_056030 Q9Y6Y1 CMTA1_HUMAN calmodulin-binding transcription activator 1 159 CG-1. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1) 9 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) TCCATCATCCCCACCTTCCAC 0.473 NA 32 181 0 0 0.003271 0 0 GPR157 80045 broad.mit.edu 37 1 9188741 9188741 + Missense_Mutation SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:9188741G>A uc001apq.1 - 1 489 c.346C>T c.(346-348)CGC>TGC p.R116C GPR157_uc010oad.1_Missense_Mutation_p.R116C|GPR157_uc001apr.2_Missense_Mutation_p.R116C|GPR157_uc001aps.2_Missense_Mutation_p.S164L NM_024980 NP_079256 Q5UAW9 GP157_HUMAN G protein-coupled receptor 157 116 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity 0 all_lung(157;0.185) all_epithelial(116;5.02e-20)|all_lung(118;3.6e-06)|Lung NSC(185;7.93e-06)|Renal(390;0.000147)|Breast(348;0.000688)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.16e-07)|COAD - Colon adenocarcinoma(227;7.73e-05)|Kidney(185;0.000252)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.00178)|BRCA - Breast invasive adenocarcinoma(304;0.00186)|READ - Rectum adenocarcinoma(331;0.0642) CGATCTGTGCGAGGCCCGCGC 0.672 NA 4 33 0 0 0.000602 0 0 SLC25A33 84275 broad.mit.edu 37 1 9613776 9613776 + Missense_Mutation SNP A A G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:9613776A>G uc001apw.2 + 2 372 c.149A>G c.(148-150)TAC>TGC p.Y50C SLC25A33_uc001apx.2_5'UTR NM_032315 NP_115691 Q9BSK2 S2533_HUMAN mitochondrial carrier protein MGC4399 50 Helical; Name=2; (Potential).|Solcar 1. transport integral to membrane|mitochondrial inner membrane 0 all_lung(157;0.246) all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419) CGGACAGTCTACTATCCTCAG 0.478 NA 21 46 0 0 0.002299 0 0 AADACL4 343066 broad.mit.edu 37 1 12725977 12725977 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:12725977G>T uc001auf.2 + 4 455 c.455G>T c.(454-456)CGC>CTC p.R152L NM_001013630 NP_001013652 Q5VUY2 ADCL4_HUMAN arylacetamide deacetylase-like 4 152 Lumenal (Potential). integral to membrane carboxylesterase activity 0 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384) TTTAGGTACCGCAAGCTTCCT 0.512 NA 17 56 5.3912e-06 7.26217e-06 0.006122 1 0 PRAMEF11 440560 broad.mit.edu 37 1 12885040 12885040 + Silent SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:12885040G>A uc001auk.2 - 4 1267 c.1071C>T c.(1069-1071)AAC>AAT p.N357N NM_001146344 NP_001139816 O60813 PRA11_HUMAN PRAME family member 11 357 LRR 6. 0 GGCTCAGCAGGTTCTCCAGGG 0.537 NA 29 392 0 0 0.002096 0 0 CLCNKA 1187 broad.mit.edu 37 1 16350360 16350360 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:16350360C>A uc001axu.2 + 3 246 c.166C>A c.(166-168)CTC>ATC p.L56I CLCNKA_uc001axt.2_RNA|CLCNKA_uc001axv.2_Missense_Mutation_p.L56I|CLCNKA_uc010obw.1_Missense_Mutation_p.L56I|CLCNKB_uc001axw.3_Intron NM_004070 NP_004061 P51800 CLCKA_HUMAN chloride channel Ka isoform 1 56 Helical; (Potential). excretion chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity ovary(1) 1 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) Niflumic Acid(DB04552) CCTGATGACCCTCGGGGTGCT 0.597 NA 8 42 5.4927e-09 8.40171e-09 0.004482 1 0 NBPF1 55672 broad.mit.edu 37 1 16902855 16902855 + Missense_Mutation SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:16902855C>G uc009vos.1 - 19 2914 c.2026G>C c.(2026-2028)GAT>CAT p.D676H NBPF1_uc009vot.1_Intron|NBPF1_uc001ayz.1_Missense_Mutation_p.D134H|NBPF1_uc010oce.1_Missense_Mutation_p.D405H NM_017940 NP_060410 Q3BBV0 NBPF1_HUMAN hypothetical protein LOC55672 676 cytoplasm 0 UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTGGCTCATCCGGAGTGAGG 0.572 NA 28 685 0 0 0.00278 0 0 CROCC 9696 broad.mit.edu 37 1 17263312 17263312 + Missense_Mutation SNP G G C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:17263312G>C uc001azt.2 + 9 1206 c.1137G>C c.(1135-1137)AAG>AAC p.K379N CROCC_uc009voy.1_Missense_Mutation_p.K82N|CROCC_uc009voz.1_Missense_Mutation_p.K142N NM_014675 NP_055490 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil 379 Potential. cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity ovary(2)|breast(2)|central_nervous_system(1) 5 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) TCCGCGAGAAGGACCTGGCGC 0.672 NA 3 64 0 0 0.004672 0 0 PADI6 353238 broad.mit.edu 37 1 17721512 17721512 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:17721512C>A uc001bak.1 + 13 1403 c.1403C>A c.(1402-1404)CCG>CAG p.P468Q NM_207421 NP_997304 Q6TGC4 PADI6_HUMAN peptidylarginine deiminase type 6 460 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity breast(1) 1 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) GTCCAAGCGCCGGTGGAGCTC 0.537 NA 16 37 2.31682e-05 2.98321e-05 0.003163 1 0 AKR7A3 22977 broad.mit.edu 37 1 19610580 19610580 + Silent SNP C C T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:19610580C>T uc001bbv.1 - 6 821 c.744G>A c.(742-744)GTG>GTA p.V248V NM_012067 NP_036199 O95154 ARK73_HUMAN aldo-keto reductase family 7, member A3 248 cellular aldehyde metabolic process cytosol aldo-keto reductase (NADP) activity|electron carrier activity 0 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) GGGCCTTCTCCACCAGGGCAA 0.642 NA 5 36 0 0 0.000602 0 0 KIF17 57576 broad.mit.edu 37 1 21042034 21042034 + Missense_Mutation SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:21042034C>G uc001bdr.3 - 2 448 c.330G>C c.(328-330)CAG>CAC p.Q110H KIF17_uc001bds.3_Missense_Mutation_p.Q110H NM_020816 NP_065867 Q9P2E2 KIF17_HUMAN kinesin family member 17 isoform a 110 Kinesin-motor. microtubule-based movement|protein transport cytoplasm|microtubule ATP binding ovary(3)|skin(1) 4 all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209) TGATGCCTCTCTGGGAGGGCG 0.662 NA 5 38 0 0 0.000602 0 0 HP1BP3 50809 broad.mit.edu 37 1 21072078 21072078 + Missense_Mutation SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:21072078G>A uc001bdw.1 - 12 1465 c.1325C>T c.(1324-1326)TCA>TTA p.S442L HP1BP3_uc001bdv.1_Missense_Mutation_p.S404L|HP1BP3_uc010odh.1_Missense_Mutation_p.S404L|HP1BP3_uc001bdy.1_Missense_Mutation_p.S442L|HP1BP3_uc010odf.1_Missense_Mutation_p.S101L|HP1BP3_uc010odg.1_Missense_Mutation_p.S290L NM_016287 NP_057371 Q5SSJ5 HP1B3_HUMAN HP1-BP74 442 nucleosome assembly nucleosome|nucleus DNA binding central_nervous_system(1)|skin(1) 2 all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201) GTCTTCTTCTGATGACTCATC 0.443 NA 7 63 0 0 0.00308 0 0 CD52 1043 broad.mit.edu 37 1 26644547 26644547 + Silent SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:26644547C>A uc001bmc.2 + 1 137 c.39C>A c.(37-39)CTC>CTA p.L13L UBXN11_uc001bma.2_5'UTR|CD52_uc009vsg.1_RNA NM_001803 NP_001794 P31358 CD52_HUMAN CD52 antigen precursor 13 elevation of cytosolic calcium ion concentration|respiratory burst anchored to membrane|integral to plasma membrane|membrane fraction 0 all_cancers(24;5.02e-24)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.56e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0137)|READ - Rectum adenocarcinoma(331;0.0649) Alemtuzumab(DB00087) CCATCAGCCTCCTGGTTATGG 0.542 NA 10 69 0.00829132 0.00946874 0.008291 1 0 PHC2 1912 broad.mit.edu 37 1 33799778 33799778 + Missense_Mutation SNP A A T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:33799778A>T uc001bxg.1 - 9 1725 c.1671T>A c.(1669-1671)AAT>AAA p.N557K PHC2_uc001bxh.1_Missense_Mutation_p.N529K|PHC2_uc009vuh.1_Missense_Mutation_p.N558K|PHC2_uc001bxe.1_Missense_Mutation_p.N22K|PHC2_uc001bxf.1_Intron NM_198040 NP_932157 Q8IXK0 PHC2_HUMAN polyhomeotic-like 2 isoform a 557 multicellular organismal development PcG protein complex DNA binding|identical protein binding|zinc ion binding ovary(1) 1 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) GTGGTGGTTTATTCTCACCAT 0.572 NA 11 78 0 0 0.008291 0 0 ZSCAN20 7579 broad.mit.edu 37 1 33945118 33945119 + Missense_Mutation DNP TG TG CT TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 TG TG - - TG TG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:33945118_33945119TG>CT uc001bxj.3 + 2 396_397 c.229_230TG>CT c.(229-231)TGT>CTT p.C77L ZSCAN20_uc001bxk.2_Missense_Mutation_p.C77L|ZSCAN20_uc009vui.2_Missense_Mutation_p.C77L NM_145238 NP_660281 P17040 ZSC20_HUMAN zinc finger protein 31 77 SCAN box. viral reproduction mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|central_nervous_system(1)|pancreas(1) 4 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) GGCTCTCTGCTGTCGTTGGCTG 0.614 NA 5 42 0 0 0.004672 0 0 CSMD2 114784 broad.mit.edu 37 1 34276415 34276415 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:34276415G>T uc001bxn.1 - 10 1284 c.1255C>A c.(1255-1257)CCC>ACC p.P419T CSMD2_uc001bxm.1_Missense_Mutation_p.P459T NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 419 CUB 3.|Extracellular (Potential). integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GGGAAATTGGGGGAGGTGATG 0.537 NA 21 89 2.27731e-05 2.94362e-05 0.001882 1 0 ZMYM4 9202 broad.mit.edu 37 1 35884120 35884120 + Silent SNP T T C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:35884120T>C uc001byt.2 + 29 4466 c.4386T>C c.(4384-4386)ACT>ACC p.T1462T ZMYM4_uc009vuu.2_Silent_p.T1430T|ZMYM4_uc001byu.2_Silent_p.T1138T|ZMYM4_uc009vuv.2_Silent_p.T1201T NM_005095 NP_005086 Q5VZL5 ZMYM4_HUMAN zinc finger protein 262 1462 multicellular organismal development DNA binding|zinc ion binding large_intestine(2)|ovary(1)|kidney(1)|skin(1) 5 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) CAGAGAATACTGACAATCCAC 0.413 NA 7 51 0 0 0.001984 0 0 EIF2C1 26523 broad.mit.edu 37 1 36349034 36349034 + Silent SNP A A T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:36349034A>T uc001bzl.2 + 1 225 c.12A>T c.(10-12)GGA>GGT p.G4G EIF2C1_uc001bzk.2_Intron NM_012199 NP_036331 Q9UL18 AGO1_HUMAN eukaryotic translation initiation factor 2C, 1 4 negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome protein binding|RNA binding ovary(2)|skin(1) 3 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) TGGAAGCGGGACCCTCGGGAG 0.637 NA 9 40 0 0 0.006214 0 0 MEAF6 64769 broad.mit.edu 37 1 37979099 37979099 + Missense_Mutation SNP T T C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:37979099T>C uc001cbg.1 - 2 148 c.131A>G c.(130-132)GAG>GGG p.E44G MEAF6_uc001cbd.1_Missense_Mutation_p.E22G|MEAF6_uc001cbe.1_Missense_Mutation_p.E44G|MEAF6_uc009vvd.1_RNA|MEAF6_uc001cbf.1_RNA|MEAF6_uc001cbh.1_Missense_Mutation_p.E44G NM_022756 NP_073593 Q9HAF1 EAF6_HUMAN MYST/Esa1-associated factor 6 44 Potential. histone H2A acetylation|histone H3-K14 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|NuA4 histone acetyltransferase complex|nucleolus protein binding 0 GTAGCTTCCCTCAAAAGCATA 0.418 NA 32 106 0 0 0.002096 0 0 MACF1 23499 broad.mit.edu 37 1 39851375 39851375 + Silent SNP G G C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:39851375G>C uc010oiu.1 + 21 9569 c.9438G>C c.(9436-9438)CTG>CTC p.L3146L MACF1_uc010ois.1_Silent_p.L2644L|MACF1_uc001cda.1_Silent_p.L2531L|MACF1_uc001cdc.1_Silent_p.L1710L NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 4711 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GACAACGGCTGAGTGTCCAGT 0.512 NA 7 45 0 0 0.00308 0 0 HIVEP3 59269 broad.mit.edu 37 1 42048667 42048667 + Missense_Mutation SNP T T C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:42048667T>C uc001cgz.3 - 4 3015 c.1802A>G c.(1801-1803)TAC>TGC p.Y601C HIVEP3_uc001cha.3_Missense_Mutation_p.Y601C|HIVEP3_uc001cgy.2_RNA NM_024503 NP_078779 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer 601 No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity). positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(4)|large_intestine(1)|central_nervous_system(1) 6 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) CTCAGAACTGTATTCCCCTCC 0.572 NA 24 46 0 0 0.00333 0 0 PTCH2 8643 broad.mit.edu 37 1 45292685 45292685 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:45292685C>A uc010olf.1 - 17 2596 c.2584G>T c.(2584-2586)GTG>TTG p.V862L PTCH2_uc010olg.1_Missense_Mutation_p.V560L NM_003738 NP_003729 Q9Y6C5 PTC2_HUMAN patched 2 862 Extracellular (Potential). protein complex assembly|spermatogenesis integral to plasma membrane hedgehog receptor activity lung(6)|breast(6)|central_nervous_system(3)|skin(2)|ovary(1) 18 Acute lymphoblastic leukemia(166;0.155) CTCACCCACACGGTCAGCCCC 0.617 NA Basal_Cell_Nevus_syndrome 13 134 9.31168e-06 1.24063e-05 0.001855 1 0 EIF2B3 8891 broad.mit.edu 37 1 45407298 45407298 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:45407298C>A uc001cmt.1 - 4 461 c.334G>T c.(334-336)GTT>TTT p.V112F EIF2B3_uc001cmu.1_Missense_Mutation_p.V112F|EIF2B3_uc001cmv.1_Missense_Mutation_p.V112F|EIF2B3_uc001cmw.2_Missense_Mutation_p.V112F NM_020365 NP_065098 Q9NR50 EI2BG_HUMAN eukaryotic translation initiation factor 2B, 112 negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus cytosol|eukaryotic translation initiation factor 2B complex nucleotidyltransferase activity|protein binding|translation initiation factor activity ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) TGTAAGGCAACGTCTGTTATC 0.418 Colon(26;357 658 2581 11857 12657) NA 15 71 6.94344e-10 1.10095e-09 0.006122 1 0 MUTYH 4595 broad.mit.edu 37 1 45798843 45798843 + Splice_Site SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:45798843C>A uc001cnm.2 - 5 596 c.380_splice c.e5-1 p.V127_splice MUTYH_uc009vxn.2_Intron|MUTYH_uc001cnf.2_Splice_Site_p.V102_splice|MUTYH_uc009vxo.2_Splice_Site_p.V102_splice|MUTYH_uc001cng.2_Splice_Site_p.V113_splice|MUTYH_uc001cnj.2_Splice_Site_p.V10_splice|MUTYH_uc001cni.2_Splice_Site_p.V102_splice|MUTYH_uc001cnh.2_Splice_Site_p.V103_splice|MUTYH_uc001cno.2_Splice_Site_p.V10_splice|MUTYH_uc001cnk.2_Intron|MUTYH_uc010oll.1_Intron|MUTYH_uc001cnl.2_Splice_Site_p.V116_splice|MUTYH_uc009vxp.2_Splice_Site_p.V130_splice|MUTYH_uc001cnn.2_Splice_Site_p.V117_splice NM_012222 NP_036354 Q9UIF7 MUTYH_HUMAN mutY homolog isoform 1 depurination|mismatch repair nucleoplasm 4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding 0 Acute lymphoblastic leukemia(166;0.155) GAGACCCACACTGGGGGAAAG 0.617 NA Mis colorectal BER_DNA_glycosylases MUTYH-associated_polyposis 14 64 1.62849e-17 3.03337e-17 0.004007 1 0 CCDC163P 126661 broad.mit.edu 37 1 45962293 45962293 + Nonsense_Mutation SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:45962293G>A uc001cnw.2 - 4 630 c.265C>T c.(265-267)CAG>TAG p.Q89* CCDC163P_uc001cnt.2_RNA|CCDC163P_uc001cnu.2_RNA|CCDC163P_uc009vxt.1_Nonsense_Mutation_p.Q89*|CCDC163P_uc001cnv.2_RNA|CCDC163P_uc009vxu.1_RNA NM_001102601 NP_001096071 hypothetical protein LOC126661 0 TCCTGGTGCTGGCCTGCAGAT 0.542 NA 4 6 0 0 0.000248 0 0 ELAVL4 1996 broad.mit.edu 37 1 50666530 50666531 + Missense_Mutation DNP CC CC AA TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:50666530_50666531CC>AA uc001csb.2 + 7 1091_1092 c.823_824CC>AA c.(823-825)CCA>AAA p.P275K ELAVL4_uc001cry.3_Missense_Mutation_p.P264K|ELAVL4_uc001crz.3_Missense_Mutation_p.P261K|ELAVL4_uc001csa.3_Missense_Mutation_p.P278K|ELAVL4_uc001csc.3_Missense_Mutation_p.P261K|ELAVL4_uc010omz.1_Missense_Mutation_p.P266K NM_021952 NP_068771 P26378 ELAV4_HUMAN ELAV-like 4 isoform 1 275 mRNA processing AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding ovary(1)|pancreas(1) 2 CAGGTTCTCCCCAATTACCATT 0.54 NA 14 110 0 0 0.004672 0 0 TTC39A 22996 broad.mit.edu 37 1 51767347 51767347 + Missense_Mutation SNP T T C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:51767347T>C uc001csl.2 - 12 1163 c.1058A>G c.(1057-1059)CAC>CGC p.H353R TTC39A_uc001csk.2_Missense_Mutation_p.H318R|TTC39A_uc010ond.1_Missense_Mutation_p.H290R|TTC39A_uc010one.1_Missense_Mutation_p.H317R|TTC39A_uc010onf.1_Missense_Mutation_p.H321R|TTC39A_uc001csn.2_Missense_Mutation_p.H352R|TTC39A_uc001cso.1_3'UTR|TTC39A_uc009vyy.1_Missense_Mutation_p.H290R NM_001080494 NP_001073963 Q5SRH9 TT39A_HUMAN tetratricopeptide repeat domain 39A isoform 2 353 binding skin(1) 1 GTAGCACATGTGGTGGAACTG 0.607 NA 12 22 0 0 0.000978 0 0 NRD1 4898 broad.mit.edu 37 1 52301822 52301822 + Silent SNP C C T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:52301822C>T uc001ctc.3 - 5 1219 c.897G>A c.(895-897)CTG>CTA p.L299L NRD1_uc009vzb.2_5'UTR|NRD1_uc001ctd.3_Silent_p.L231L|NRD1_uc001cte.2_Silent_p.L167L|NRD1_uc001ctf.2_Silent_p.L231L|NRD1_uc010ong.1_RNA|NRD1_uc009vzc.1_Silent_p.L99L NM_002525 NP_002516 O43847 NRDC_HUMAN nardilysin isoform a 230 cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity cell surface|cytosol epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding 0 AAAAGTGTGCCAGCCCCGGCA 0.418 NA 16 48 0 0 0.004007 0 0 CC2D1B 200014 broad.mit.edu 37 1 52824708 52824708 + Silent SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:52824708G>A uc001ctq.1 - 11 1386 c.1248C>T c.(1246-1248)CGC>CGT p.R416R CC2D1B_uc001ctr.2_5'Flank|CC2D1B_uc001cts.2_Silent_p.R107R NM_032449 NP_115825 Q5T0F9 C2D1B_HUMAN coiled-coil and C2 domain containing 1B 416 ovary(2) 2 CCTTGGCAATGCGCTCATGCA 0.662 NA 7 20 0 0 0.001984 0 0 C8A 731 broad.mit.edu 37 1 57333306 57333306 + Silent SNP C C G rs142045980 TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:57333306C>G uc001cyo.2 + 2 234 c.102C>G c.(100-102)CCC>CCG p.P34P NM_000562 NP_000553 P07357 CO8A_HUMAN complement component 8, alpha polypeptide 34 complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular space|membrane attack complex ovary(1)|central_nervous_system(1)|skin(1) 3 CAGCTACACCCGCAGCAGTTA 0.453 NA 5 32 0 0 0.000602 0 0 FOXD3 27022 broad.mit.edu 37 1 63789224 63789224 + Missense_Mutation SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:63789224C>G uc001dax.2 + 1 495 c.495C>G c.(493-495)AGC>AGG p.S165R NM_012183 NP_036315 Q9UJU5 FOXD3_HUMAN forkhead box D3 165 Fork-head. axon extension involved in axon guidance|branching involved in ureteric bud morphogenesis|cartilage development|embryonic placenta development|enteric nervous system development|iridophore differentiation|kidney development|lateral line nerve glial cell development|melanocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development|trophectodermal cell differentiation transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding 0 TGACCCTGAGCGGCATCTGCG 0.587 Pancreas(68;276 1750 11966 31252) NA 13 77 0 0 0.001855 0 0 SLC44A5 204962 broad.mit.edu 37 1 75672357 75672357 + Missense_Mutation SNP C C A rs78856933 byFrequency TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:75672357C>A uc001dgu.2 - 24 2239 c.2095G>T c.(2095-2097)GTA>TTA p.V699L SLC44A5_uc001dgt.2_Intron|SLC44A5_uc001dgs.2_Intron|SLC44A5_uc001dgr.2_Intron|SLC44A5_uc010oqz.1_Intron|SLC44A5_uc010ora.1_Missense_Mutation_p.V693L|SLC44A5_uc010orb.1_Missense_Mutation_p.V569L NM_152697 NP_689910 Q8NCS7 CTL5_HUMAN solute carrier family 44, member 5 isoform A 699 Cytoplasmic (Potential). integral to membrane|plasma membrane choline transmembrane transporter activity ovary(2)|skin(2) 4 TTAGGGGTTACGAAGTAGGGT 0.413 NA 25 56 8.58068e-18 1.60723e-17 0.007291 1 0 MSH4 4438 broad.mit.edu 37 1 76345788 76345788 + Missense_Mutation SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:76345788G>A uc001dhd.1 + 13 1772 c.1731G>A c.(1729-1731)ATG>ATA p.M577I NM_002440 NP_002431 O15457 MSH4_HUMAN mutS homolog 4 577 chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding lung(3)|ovary(2) 5 TAATTAAAATGAATGAAAGAT 0.269 NA MMR 4 49 0 0 0.000248 0 0 ZZZ3 26009 broad.mit.edu 37 1 78034024 78034024 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:78034024C>A uc001dhq.2 - 13 2935 c.2459G>T c.(2458-2460)GGC>GTC p.G820V ZZZ3_uc001dhr.2_Missense_Mutation_p.G326V|ZZZ3_uc001dhp.2_Missense_Mutation_p.G819V NM_015534 NP_056349 Q8IYH5 ZZZ3_HUMAN zinc finger, ZZ-type containing 3 820 ZZ-type. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|large_intestine(1) 5 TACCTTAAAGCCCACATGTTG 0.214 NA 8 67 0.000442599 0.000529778 0.006214 1 0 LPHN2 23266 broad.mit.edu 37 1 82450396 82450396 + Splice_Site SNP G G C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:82450396G>C uc001dit.3 + 19 3541 c.3360_splice c.e19+1 p.Q1120_splice LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Splice_Site_p.Q1120_splice|LPHN2_uc001div.2_Splice_Site_p.Q1120_splice|LPHN2_uc009wcd.2_Splice_Site_p.Q1120_splice|LPHN2_uc001diw.2_Splice_Site_p.Q704_splice NM_012302 NP_036434 O95490 LPHN2_HUMAN latrophilin 2 precursor neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding ovary(3)|lung(3)|breast(2)|central_nervous_system(1) 9 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) TGGCACACAGGTAACAAAGAG 0.428 NA 6 52 0 0 0.001168 0 0 PRKACB 5567 broad.mit.edu 37 1 84668407 84668407 + Silent SNP A A T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:84668407A>T uc001djj.2 + 8 948 c.684A>T c.(682-684)CTA>CTT p.L228L PRKACB_uc001djl.2_Silent_p.L275L|PRKACB_uc010ort.1_Silent_p.L235L|PRKACB_uc001djn.2_Silent_p.L232L|PRKACB_uc010oru.1_Silent_p.L216L|PRKACB_uc001djp.2_Silent_p.L234L|PRKACB_uc001djq.2_Silent_p.L198L|PRKACB_uc010orv.1_Silent_p.L215L|PRKACB_uc001dji.2_Silent_p.L228L|PRKACB_uc001djk.2_Silent_p.L275L|PRKACB_uc009wcf.1_Silent_p.L234L NM_002731 NP_002722 P22694 KAPCB_HUMAN cAMP-dependent protein kinase catalytic subunit 228 Protein kinase. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding lung(2)|ovary(1) 3 all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141) TAGGAGTGCTAATCTATGAAA 0.353 NA 12 71 0 0 0.001855 0 0 WDR63 126820 broad.mit.edu 37 1 85547082 85547082 + Missense_Mutation SNP T T G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:85547082T>G uc001dkt.2 + 4 460 c.269T>G c.(268-270)GTC>GGC p.V90G WDR63_uc009wcl.2_Missense_Mutation_p.V90G NM_145172 NP_660155 Q8IWG1 WDR63_HUMAN WD repeat domain 63 90 upper_aerodigestive_tract(2)|ovary(2)|skin(1) 5 all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166) TTCCACCCAGTCAAAAAAATT 0.383 NA 18 50 0 0 0.007413 0 0 COL24A1 255631 broad.mit.edu 37 1 86289273 86289273 + Splice_Site SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:86289273C>A uc001dlj.2 - 45 3778 c.3736_splice c.e45-1 p.G1246_splice COL24A1_uc001dli.2_Splice_Site_p.G382_splice|COL24A1_uc010osd.1_Splice_Site_p.G546_splice|COL24A1_uc001dlk.2_Splice_Site|COL24A1_uc010ose.1_Splice_Site|COL24A1_uc010osf.1_Splice_Site NM_152890 NP_690850 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 precursor cell adhesion collagen extracellular matrix structural constituent ovary(3)|central_nervous_system(1)|skin(1) 5 all cancers(265;0.0627)|Epithelial(280;0.0689) CTGGTTCGCCCTTTAGTAGAA 0.333 NA 6 39 4.096e-09 6.33747e-09 0.001168 1 0 COL24A1 255631 broad.mit.edu 37 1 86453338 86453338 + Splice_Site SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:86453338C>A uc001dlj.2 - 20 2353 c.2311_splice c.e20-1 p.G771_splice COL24A1_uc010osd.1_Splice_Site_p.G71_splice|COL24A1_uc001dlk.2_Splice_Site|COL24A1_uc010ose.1_Splice_Site|COL24A1_uc010osf.1_Splice_Site NM_152890 NP_690850 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 precursor cell adhesion collagen extracellular matrix structural constituent ovary(3)|central_nervous_system(1)|skin(1) 5 all cancers(265;0.0627)|Epithelial(280;0.0689) CTGGAAAACCCTAGGGAATAT 0.358 NA 12 60 1.61879e-10 2.61303e-10 0.001368 1 0 CLCA2 9635 broad.mit.edu 37 1 86898153 86898153 + Missense_Mutation SNP T T C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:86898153T>C uc001dlr.3 + 5 848 c.686T>C c.(685-687)ATC>ACC p.I229T NM_006536 NP_006527 Q9UQC9 CLCA2_HUMAN chloride channel accessory 2 precursor 229 Extracellular (Potential). cell adhesion basal plasma membrane|cell junction|extracellular region|integral to plasma membrane chloride channel activity ovary(1)|breast(1)|skin(1) 3 Lung NSC(277;0.238) all cancers(265;0.0233)|Epithelial(280;0.0452) TGCACCTTTATCTACAATAGC 0.378 Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642) NA 28 82 0 0 0.008361 0 0 GBP6 163351 broad.mit.edu 37 1 89848344 89848344 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:89848344G>T uc001dnf.2 + 8 1548 c.1274G>T c.(1273-1275)AGT>ATT p.S425I GBP6_uc010ost.1_Missense_Mutation_p.S295I NM_198460 NP_940862 Q6ZN66 GBP6_HUMAN guanylate binding protein family, member 6 425 GTP binding|GTPase activity ovary(2) 2 Lung NSC(277;0.0908) all cancers(265;0.0108)|Epithelial(280;0.0398) TCAGCAGGAAGTTTCTCTGTT 0.443 NA 15 58 1.05317e-09 1.65622e-09 0.00245 1 0 LRRC8C 84230 broad.mit.edu 37 1 90178811 90178811 + Missense_Mutation SNP G G C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:90178811G>C uc001dnl.3 + 3 924 c.682G>C c.(682-684)GGG>CGG p.G228R NM_032270 NP_115646 Q8TDW0 LRC8C_HUMAN leucine rich repeat containing 8 family, member 228 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) ATCCACTGCAGGGGCTCTGGA 0.453 NA 7 51 0 0 0.001984 0 0 ARHGAP29 9411 broad.mit.edu 37 1 94670703 94670703 + Missense_Mutation SNP G G C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:94670703G>C uc001dqj.3 - 7 980 c.611C>G c.(610-612)TCT>TGT p.S204C ARHGAP29_uc009wdq.1_RNA|ARHGAP29_uc001dql.2_Missense_Mutation_p.S204C NM_004815 NP_004806 Q52LW3 RHG29_HUMAN PTPL1-associated RhoGAP 1 204 Rho protein signal transduction cytosol metal ion binding|Rho GTPase activator activity breast(4)|skin(3)|lung(2)|upper_aerodigestive_tract(1)|ovary(1) 11 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) CAGCTCGATAGAGTCAGTGTT 0.338 NA 4 28 0 0 0.000248 0 0 COL11A1 1301 broad.mit.edu 37 1 103444295 103444295 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:103444295C>A uc001dul.2 - 35 3041 c.2723G>T c.(2722-2724)GGC>GTC p.G908V COL11A1_uc001duk.2_Missense_Mutation_p.G104V|COL11A1_uc001dum.2_Missense_Mutation_p.G920V|COL11A1_uc001dun.2_Missense_Mutation_p.G869V|COL11A1_uc009weh.2_Missense_Mutation_p.G792V NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 908 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) AGGGCCATCGCCACCTGAAGT 0.388 NA 22 171 5.26018e-13 9.08023e-13 0.001882 1 0 FAM40A 85369 broad.mit.edu 37 1 110584481 110584481 + Missense_Mutation SNP T T A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:110584481T>A uc001dza.1 + 8 902 c.883T>A c.(883-885)TTG>ATG p.L295M FAM40A_uc001dyz.1_Missense_Mutation_p.L200M|FAM40A_uc009wfp.1_Missense_Mutation_p.L119M NM_033088 NP_149079 Q5VSL9 FA40A_HUMAN hypothetical protein LOC85369 295 nucleus protein binding ovary(3)|large_intestine(1) 4 all_cancers(81;8.51e-05)|all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0154)|all cancers(265;0.0732)|Epithelial(280;0.0781)|Colorectal(144;0.115)|LUSC - Lung squamous cell carcinoma(189;0.137) GAAGACAGTATTGGTGAGCAC 0.463 NA 15 99 0 0 0.004007 0 0 SPAG17 200162 broad.mit.edu 37 1 118596629 118596629 + Missense_Mutation SNP A A T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:118596629A>T uc001ehk.2 - 20 2878 c.2810T>A c.(2809-2811)CTC>CAC p.L937H NM_206996 NP_996879 Q6Q759 SPG17_HUMAN sperm associated antigen 17 937 cilium|flagellar axoneme|microtubule upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1) 6 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) gaTTACCTTGAGAGAGCCTTC 0.174 NA 5 27 0 0 0.000602 0 0 HSD3B2 3284 broad.mit.edu 37 1 119965095 119965095 + Missense_Mutation SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:119965095G>A uc001ehs.2 + 3 1744 c.971G>A c.(970-972)AGT>AAT p.S324N HSD3B2_uc001eht.2_Missense_Mutation_p.S324N|HSD3B2_uc001ehu.2_Intron NM_000198 NP_000189 P26439 3BHS2_HUMAN 3 beta-hydroxysteroid dehydrogenase 2 324 androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity ovary(2) 2 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836) NADH(DB00157)|Trilostane(DB01108) TTATCAAATAGTGTGTTCACC 0.498 NA 11 78 0 0 0.000978 0 0 ADAM30 11085 broad.mit.edu 37 1 120438236 120438236 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:120438236G>T uc001eij.2 - 1 878 c.724C>A c.(724-726)CAA>AAA p.Q242K NM_021794 NP_068566 Q9UKF2 ADA30_HUMAN ADAM metallopeptidase domain 30 preproprotein 242 Peptidase M12B.|Extracellular (Potential). proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding ovary(2)|lung(1) 3 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138) Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117) CGAACATCTTGAAAGTAGGTG 0.378 NA 22 51 3.5997e-14 6.3947e-14 0.002299 1 0 PDE4DIP 9659 broad.mit.edu 37 1 144866652 144866652 + Missense_Mutation SNP T T C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:144866652T>C uc001elw.3 - 34 5881 c.5590A>G c.(5590-5592)ATC>GTC p.I1864V NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.I1758V|PDE4DIP_uc001elv.3_Missense_Mutation_p.I871V|PDE4DIP_uc001ema.2_Missense_Mutation_p.I51V NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 1864 Potential. cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) CGGTCATTGATGCAGATGGAT 0.577 NA T PDGFRB MPD 38 254 0 0 0.005524 0 0 CHD1L 9557 broad.mit.edu 37 1 146759402 146759402 + Silent SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:146759402G>T uc001epm.3 + 19 2373 c.2310G>T c.(2308-2310)GGG>GGT p.G770G uc001epp.2_Intron|CHD1L_uc001epn.3_Silent_p.G657G|CHD1L_uc010ozo.1_RNA|CHD1L_uc009wjg.2_RNA|CHD1L_uc009wjh.2_Silent_p.G676G|CHD1L_uc010ozp.1_Silent_p.G489G|CHD1L_uc001epo.3_Silent_p.G566G|CHD1L_uc009wji.2_Silent_p.G489G NM_004284 NP_004275 Q86WJ1 CHD1L_HUMAN chromodomain helicase DNA binding protein 770 Macro. chromatin remodeling|DNA repair cytoplasm|nucleus|plasma membrane ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding ovary(3)|lung(2)|upper_aerodigestive_tract(1) 6 all_hematologic(923;0.0487) AGCTGGCTGGGAAAATGAAAG 0.438 NA 12 84 1.61879e-10 2.61303e-10 0.001368 1 0 SV2A 9900 broad.mit.edu 37 1 149885321 149885321 + Silent SNP C C T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:149885321C>T uc001etg.2 - 2 563 c.72G>A c.(70-72)AAG>AAA p.K24K SV2A_uc001eth.2_Silent_p.K24K NM_014849 NP_055664 Q7L0J3 SV2A_HUMAN synaptic vesicle glycoprotein 2 24 Cytoplasmic (Potential).|Interaction with SYT1 (By similarity). 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) TGGCCGCATGCTTTTTGACTT 0.547 NA 20 110 0 0 0.001882 0 0 TCHHL1 126637 broad.mit.edu 37 1 152058087 152058087 + Nonsense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:152058087C>A uc001ezo.1 - 3 2136 c.2071G>T c.(2071-2073)GGA>TGA p.G691* NM_001008536 NP_001008536 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 691 calcium ion binding ovary(1)|skin(1) 2 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) TCTCCCTTTCCAGGGAGCTGC 0.458 NA 33 171 2.80507e-11 4.64514e-11 0.002445 1 0 HRNR 388697 broad.mit.edu 37 1 152188335 152188335 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:152188335C>A uc001ezt.1 - 3 5846 c.5770G>T c.(5770-5772)GGT>TGT p.G1924C NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 1924 21. keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCATGCTGACCATAGCTGGAA 0.582 NA 35 828 4.74835e-14 8.39084e-14 0.002096 1 0 HRNR 388697 broad.mit.edu 37 1 152192096 152192096 + Missense_Mutation SNP C C T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:152192096C>T uc001ezt.1 - 3 2085 c.2009G>A c.(2008-2010)GGG>GAG p.G670E NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 670 6. keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GGAAGAGTGCCCAAAATCGGA 0.592 NA 76 149 0 0 0.00361 0 0 LCE1D 353134 broad.mit.edu 37 1 152770363 152770363 + Silent SNP T T G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:152770363T>G uc009wnp.2 + 2 136 c.93T>G c.(91-93)CCT>CCG p.P31P NM_178352 NP_848129 Q5T752 LCE1D_HUMAN late cornified envelope 1D 31 Cys-rich. cellular response to calcium ion|keratinization cornified envelope|perinuclear region of cytoplasm 0 Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) AATGTCCCCCTAAGTGCCCTC 0.552 NA 39 28 0 0 0.005524 0 0 TPM3 7170 broad.mit.edu 37 1 154163707 154163707 + Silent SNP C C T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:154163707C>T uc001fec.1 - 2 313 c.198G>A c.(196-198)AAG>AAA p.K66K NM_152263 NP_689476 P06753 TPM3_HUMAN tropomyosin 3 isoform 1 65 By similarity. cellular component movement|muscle filament sliding|regulation of muscle contraction cytosol|muscle thin filament tropomyosin|stress fiber actin binding TPM3/ALK(33) haematopoietic_and_lymphoid_tissue(22)|soft_tissue(11)|skin(1) 34 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) CCTGGGCATCCTTCAAAGCTT 0.478 NA T NTRK1|ALK papillary thyroid|ALCL 6 105 0 0 0.001168 0 0 EFNA1 1942 broad.mit.edu 37 1 155104004 155104004 + Silent SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:155104004G>T uc001fhh.2 + 2 387 c.282G>T c.(280-282)CGG>CGT p.R94R EFNA1_uc001fhi.2_Silent_p.R94R|EFNA1_uc009wpd.1_5'Flank NM_004428 NP_004419 P20827 EFNA1_HUMAN ephrin A1 isoform a precursor 94 angiogenesis|aortic valve morphogenesis|cell migration|cell-cell signaling|endocardial cushion to mesenchymal transition involved in heart valve formation|ephrin receptor signaling pathway|mitral valve morphogenesis|negative regulation of epithelial to mesenchymal transition|negative regulation of transcription from RNA polymerase II promoter|positive regulation of peptidyl-tyrosine phosphorylation|regulation of cell adhesion mediated by integrin|substrate adhesion-dependent cell spreading extracellular region|integral to plasma membrane ephrin receptor binding 0 all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193) AGTGCAACCGGCCCAGTGCCA 0.577 NA 10 14 2.17888e-05 2.81911e-05 0.006214 1 0 VHLL 391104 broad.mit.edu 37 1 156268966 156268966 + Silent SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:156268966C>A uc001fok.2 - 1 463 c.15G>T c.(13-15)GCG>GCT p.A5A NM_001004319 NP_001004319 Q6RSH7 VHLL_HUMAN von Hippel-Lindau tumor suppressor-like 5 protein ubiquitination nucleus ovary(1) 1 Hepatocellular(266;0.158) CCCCGTTCCCCGCTCTCCAGG 0.597 NA 25 74 7.76418e-22 1.5134e-21 0.005443 1 0 FCRL1 115350 broad.mit.edu 37 1 157773730 157773730 + Missense_Mutation SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:157773730G>A uc001frg.2 - 3 337 c.224C>T c.(223-225)GCC>GTC p.A75V FCRL1_uc001frf.2_5'Flank|FCRL1_uc001frh.2_Missense_Mutation_p.A75V|FCRL1_uc001fri.2_Missense_Mutation_p.A75V|FCRL1_uc001frj.2_RNA NM_052938 NP_443170 Q96LA6 FCRL1_HUMAN Fc receptor-like 1 isoform 1 precursor 75 Extracellular (Potential).|Ig-like C2-type 1. integral to membrane|plasma membrane receptor activity skin(4)|ovary(3) 7 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) TTTCCACATGGCAGCGATCTG 0.547 GBM(54;482 1003 11223 30131 35730) NA 32 91 0 0 0.001786 0 0 CD1A 909 broad.mit.edu 37 1 158226655 158226655 + Missense_Mutation SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:158226655C>G uc001frt.2 + 4 1217 c.684C>G c.(682-684)TTC>TTG p.F228L NM_001763 NP_001754 P06126 CD1A_HUMAN CD1A antigen precursor 228 Extracellular (Potential).|Ig-like. antigen processing and presentation|immune response endosome membrane|integral to plasma membrane|MHC class I protein complex pancreas(2)|skin(1) 3 all_hematologic(112;0.0378) Antithymocyte globulin(DB00098) TCTCAGGATTCTACCCAAAGC 0.597 NA 3 103 0 0 0.004672 0 0 OR10T2 128360 broad.mit.edu 37 1 158368842 158368842 + Missense_Mutation SNP T T G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:158368842T>G uc010pih.1 - 1 415 c.415A>C c.(415-417)AAA>CAA p.K139Q NM_001004475 NP_001004475 Q8NGX3 O10T2_HUMAN olfactory receptor, family 10, subfamily T, 139 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1) 3 all_hematologic(112;0.0378) CCCAGCCTTTTGTTTATGATG 0.478 NA 9 80 0 0 0.008291 0 0 OR6Y1 391112 broad.mit.edu 37 1 158516985 158516985 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:158516985G>T uc010pil.1 - 1 911 c.911C>A c.(910-912)GCA>GAA p.A304E NM_001005189 NP_001005189 Q8NGX8 OR6Y1_HUMAN olfactory receptor, family 6, subfamily Y, 304 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) TCTGAGGGCTGCCTTTACTTC 0.438 NA 25 80 2.21704e-12 3.74055e-12 0.00278 1 0 SPTA1 6708 broad.mit.edu 37 1 158587833 158587833 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:158587833C>A uc001fst.1 - 46 6743 c.6544G>T c.(6544-6546)GAT>TAT p.D2182Y NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 2182 Spectrin 21. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) ACTGACCCATCCAGAAAGTAA 0.348 NA 21 73 4.7796e-09 7.3444e-09 0.004656 1 0 OR6K3 391114 broad.mit.edu 37 1 158687493 158687493 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:158687493G>T uc010pip.1 - 1 461 c.461C>A c.(460-462)CCC>CAC p.P154H NM_001005327 NP_001005327 Q8NGY3 OR6K3_HUMAN olfactory receptor, family 6, subfamily K, 154 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|kidney(1)|central_nervous_system(1) 3 all_hematologic(112;0.0378) ACAGAGCCGGGGGGTCATGAT 0.522 NA 43 77 3.54909e-21 6.87796e-21 0.002852 1 0 ATP1A4 480 broad.mit.edu 37 1 160141191 160141191 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:160141191G>T uc001fve.3 + 11 2121 c.1642G>T c.(1642-1644)GCC>TCC p.A548S ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_Missense_Mutation_p.A51S NM_144699 NP_653300 Q13733 AT1A4_HUMAN Na+/K+ -ATPase alpha 4 subunit isoform 1 548 Cytoplasmic (Potential). ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity ovary(2)|skin(2) 4 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CTTCCAAAATGCCTACTTAGA 0.463 NA 27 44 1.42536e-11 2.38091e-11 0.004656 1 0 COPA 1314 broad.mit.edu 37 1 160265889 160265889 + Missense_Mutation SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:160265889C>G uc009wti.2 - 22 2708 c.2314G>C c.(2314-2316)GAG>CAG p.E772Q COPA_uc001fvv.3_Missense_Mutation_p.E781Q NM_004371 NP_004362 P53621 COPA_HUMAN coatomer protein complex, subunit alpha isoform 772 COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction hormone activity|structural molecule activity ovary(1)|skin(1) 2 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TTTAGGCTCTCAGCTTCTTCA 0.408 NA 3 92 0 0 0.000602 0 0 USF1 7391 broad.mit.edu 37 1 161011976 161011976 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:161011976C>A uc001fxi.2 - 5 401 c.206G>T c.(205-207)GGG>GTG p.G69V USF1_uc001fxj.2_Missense_Mutation_p.G10V NM_007122 NP_009053 P22415 USF1_HUMAN upstream stimulatory factor 1 isoform 1 69 cellular response to insulin stimulus|glucose homeostasis|late viral mRNA transcription|lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter by glucose|response to hypoxia|response to UV transcription factor complex bHLH transcription factor binding|histone deacetylase binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) ATCCAGCTGCCCCTCAGACAC 0.547 NA 17 44 7.05477e-17 1.30503e-16 0.00499 1 0 TOMM40L 84134 broad.mit.edu 37 1 161198044 161198044 + Missense_Mutation SNP C C T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:161198044C>T uc001fzd.2 + 7 782 c.553C>T c.(553-555)CAC>TAC p.H185Y TOMM40L_uc010pkl.1_Missense_Mutation_p.H151Y|TOMM40L_uc009wue.2_Missense_Mutation_p.H67Y|TOMM40L_uc009wuf.1_RNA|TOMM40L_uc001fze.2_Missense_Mutation_p.H185Y NM_032174 NP_115550 Q969M1 TM40L_HUMAN translocase of outer mitochondrial membrane 40 185 protein transport mitochondrial outer membrane|pore complex porin activity|voltage-gated anion channel activity large_intestine(1) 1 all_cancers(52;1.86e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) GCTAGTTTATCACCGGCGGCC 0.592 NA OREG0013943 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 29 0 0 0.001368 0 0 PBX1 5087 broad.mit.edu 37 1 164769120 164769120 + Missense_Mutation SNP A A T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:164769120A>T uc001gct.2 + 4 953 c.695A>T c.(694-696)GAT>GTT p.D232V PBX1_uc010pku.1_Missense_Mutation_p.D232V|PBX1_uc010pkv.1_Missense_Mutation_p.D149V|PBX1_uc001gcs.2_Missense_Mutation_p.D232V|PBX1_uc010pkw.1_Missense_Mutation_p.D122V NM_002585 NP_002576 P40424 PBX1_HUMAN pre-B-cell leukemia homeobox 1 232 negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription factor binding EWSR1/PBX1(3) soft_tissue(3)|lung(1)|skin(1) 5 CGATTTCTGGATGCGCGGTGA 0.612 NA T TCF3|EWSR1 pre B-ALL|myoepithelioma 5 16 0 0 0.001168 0 0 DUSP27 92235 broad.mit.edu 37 1 167095909 167095909 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:167095909G>T uc001geb.1 + 5 1541 c.1541G>T c.(1540-1542)AGG>ATG p.R514M NM_001080426 NP_001073895 Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 514 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity ovary(3) 3 GCAGGGAGCAGGGTGCGGGAG 0.587 NA 29 66 7.01153e-11 1.14001e-10 0.007291 1 0 F5 2153 broad.mit.edu 37 1 169510154 169510154 + Missense_Mutation SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:169510154G>A uc001ggg.1 - 13 4319 c.4174C>T c.(4174-4176)CCC>TCC p.P1392S NM_000130 NP_000121 P12259 FA5_HUMAN coagulation factor V precursor 1392 2-24.|35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) GCAAAGAGGGGCATCTCACTG 0.512 NA 43 212 0 0 0.007835 0 0 F5 2153 broad.mit.edu 37 1 169525938 169525938 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:169525938C>A uc001ggg.1 - 6 1043 c.898G>T c.(898-900)GTG>TTG p.V300L F5_uc010plr.1_RNA NM_000130 NP_000121 P12259 FA5_HUMAN coagulation factor V precursor 300 F5/8 type A 1.|Plastocyanin-like 2. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) TCTGGGCCCACAGTCATATTT 0.473 NA 22 49 1.87028e-06 2.58414e-06 0.001882 1 0 RABGAP1L 9910 broad.mit.edu 37 1 174200322 174200322 + Missense_Mutation SNP C C T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:174200322C>T uc001gjx.2 + 4 566 c.371C>T c.(370-372)CCT>CTT p.P124L RABGAP1L_uc009wwq.1_Missense_Mutation_p.P124L|RABGAP1L_uc001gjw.2_Missense_Mutation_p.P87L NM_014857 NP_055672 Q5R372 RBG1L_HUMAN RAB GTPase activating protein 1-like isoform A 124 regulation of protein localization early endosome|Golgi apparatus|nucleus Rab GTPase activator activity ovary(2)|lung(1)|kidney(1) 4 GGTGGACTACCTGAAGAAGAT 0.383 NA 14 76 0 0 0.001855 0 0 TNN 63923 broad.mit.edu 37 1 175067500 175067500 + Silent SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:175067500C>A uc001gkl.1 + 9 2001 c.1888C>A c.(1888-1890)CGG>AGG p.R630R TNN_uc010pmx.1_Silent_p.R541R NM_022093 NP_071376 Q9UQP3 TENN_HUMAN tenascin N precursor 630 Fibronectin type-III 5. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix large_intestine(5)|ovary(3)|central_nervous_system(1) 9 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) GGTGACTGACCGGGTGACAGA 0.532 NA 67 120 1.48005e-37 2.97116e-37 0.00361 1 0 TNN 63923 broad.mit.edu 37 1 175097288 175097288 + Missense_Mutation SNP A A T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:175097288A>T uc001gkl.1 + 14 3279 c.3166A>T c.(3166-3168)ACC>TCC p.T1056S NM_022093 NP_071376 Q9UQP3 TENN_HUMAN tenascin N precursor 1056 Fibronectin type-III 9. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix large_intestine(5)|ovary(3)|central_nervous_system(1) 9 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) TGTATCCACCACCCTCTCCAC 0.552 NA 16 36 0 0 0.004007 0 0 FAM5B 57795 broad.mit.edu 37 1 177199149 177199149 + Missense_Mutation SNP A A T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:177199149A>T uc001glf.2 + 2 449 c.137A>T c.(136-138)CAT>CTT p.H46L NM_021165 NP_066988 Q9C0B6 FAM5B_HUMAN family with sequence similarity 5, member B 46 extracellular region skin(3)|ovary(2)|upper_aerodigestive_tract(1) 6 CCCGAGCAGCATGCCTCCGTA 0.697 NA 15 33 0 0 0.00245 0 0 CACNA1E 777 broad.mit.edu 37 1 181741305 181741305 + Missense_Mutation SNP C C T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:181741305C>T uc001gow.2 + 37 5242 c.5077C>T c.(5077-5079)CGC>TGC p.R1693C CACNA1E_uc009wxs.2_Missense_Mutation_p.R1581C|CACNA1E_uc001gox.1_Missense_Mutation_p.R919C|CACNA1E_uc009wxt.2_Missense_Mutation_p.R919C NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 1693 Extracellular (Potential).|IV. energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 CGAGAACGAACGCTGCGGCAC 0.557 NA 25 96 0 0 0.00333 0 0 CACNA1E 777 broad.mit.edu 37 1 181741320 181741320 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:181741320C>A uc001gow.2 + 37 5257 c.5092C>A c.(5092-5094)CTG>ATG p.L1698M CACNA1E_uc009wxs.2_Missense_Mutation_p.L1586M|CACNA1E_uc001gox.1_Missense_Mutation_p.L924M|CACNA1E_uc009wxt.2_Missense_Mutation_p.L924M NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 1698 Extracellular (Potential).|IV. energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 CGGCACCGATCTGGCCTACGT 0.552 NA 17 111 5.35267e-07 7.53525e-07 0.007413 1 0 ZNF648 127665 broad.mit.edu 37 1 182026967 182026967 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:182026967G>T uc001goz.2 - 2 387 c.179C>A c.(178-180)CCA>CAA p.P60Q NM_001009992 NP_001009992 Q5T619 ZN648_HUMAN zinc finger protein 648 60 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GTGTGTTACTGGGGAGCTGCC 0.567 NSCLC(71;908 1374 5429 20458 35642) NA 23 49 1.10513e-12 1.89069e-12 0.002299 1 0 HMCN1 83872 broad.mit.edu 37 1 185939528 185939528 + Silent SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:185939528G>A uc001grq.1 + 15 2503 c.2274G>A c.(2272-2274)AAG>AAA p.K758K HMCN1_uc001grr.1_Silent_p.K99K NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 758 Ig-like C2-type 4. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 GACTTTTGAAGATTCAAGAAA 0.428 NA 56 163 0 0 0.00361 0 0 HMCN1 83872 broad.mit.edu 37 1 186064471 186064471 + Missense_Mutation SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:186064471C>G uc001grq.1 + 68 10620 c.10391C>G c.(10390-10392)GCT>GGT p.A3464G NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 3464 Ig-like C2-type 33. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 GGAACCCCAGCTCCCAGTATG 0.522 NA 20 34 0 0 0.007413 0 0 FAM5C 339479 broad.mit.edu 37 1 190203575 190203575 + Nonsense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:190203575G>T uc001gse.1 - 5 883 c.651C>A c.(649-651)TGC>TGA p.C217* FAM5C_uc010pot.1_Nonsense_Mutation_p.C115* NM_199051 NP_950252 Q76B58 FAM5C_HUMAN family with sequence similarity 5, member C 217 extracellular region lung(2)|ovary(1)|kidney(1)|skin(1) 5 Prostate(682;0.198) CATAGTTACTGCAGCCAAGAG 0.373 NA 11 59 0.00010058 0.000124382 0.001368 1 0 CFH 3075 broad.mit.edu 37 1 196711060 196711060 + Silent SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:196711060G>A uc001gtj.3 + 19 3252 c.3012G>A c.(3010-3012)AAG>AAA p.K1004K NM_000186 NP_000177 P08603 CFAH_HUMAN complement factor H isoform a precursor 1004 Sushi 17. complement activation, alternative pathway extracellular space skin(4)|ovary(1)|breast(1) 6 TGGGAGAGAAGAAGGATGTGT 0.368 NA 4 47 0 0 0.000248 0 0 CFHR3 10878 broad.mit.edu 37 1 196749016 196749016 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:196749016C>A uc001gtl.2 + 3 430 c.343C>A c.(343-345)CAT>AAT p.H115N CFHR3_uc001gtk.2_Missense_Mutation_p.H115N|CFHR3_uc010poy.1_Missense_Mutation_p.H115N|CFHR1_uc001gtm.2_Intron NM_021023 NP_066303 Q02985 FHR3_HUMAN complement factor H-related 3 precursor 115 Sushi 2. extracellular space 0 AGTTGCCTGCCATCCTGGCTA 0.428 NA 11 40 0.00829132 0.00946874 0.008291 1 0 F13B 2165 broad.mit.edu 37 1 197025021 197025021 + Missense_Mutation SNP T T C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:197025021T>C uc001gtt.1 - 8 1222 c.1178A>G c.(1177-1179)AAT>AGT p.N393S NM_001994 NP_001985 P05160 F13B_HUMAN coagulation factor XIII B subunit precursor 393 blood coagulation extracellular region upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 ACAATTCTCATTATTTTCTAA 0.328 NA 9 27 0 0 0.004482 0 0 IGFN1 91156 broad.mit.edu 37 1 201196296 201196296 + Silent SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:201196296G>T uc001gwc.2 + 12 3325 c.2553G>T c.(2551-2553)ACG>ACT p.T851T IGFN1_uc001gwb.2_RNA NM_178275 NP_840059 RecName: Full=Immunoglobulin-like and fibronectin type III domain-containing protein 1; AltName: Full=EEF1A2-binding protein 1; AltName: Full=KY-interacting protein 1; ovary(2)|pancreas(1) 3 CTGAGAACACGCTGGGCCAGG 0.637 NA 3 12 0.004672 0.00538583 0.004672 1 0 ATP2B4 493 broad.mit.edu 37 1 203680134 203680134 + Silent SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:203680134G>T uc001gzw.2 + 12 2813 c.1929G>T c.(1927-1929)CGG>CGT p.R643R ATP2B4_uc001gzv.2_Silent_p.R643R|ATP2B4_uc009xaq.2_Silent_p.R643R NM_001684 NP_001675 P23634 AT2B4_HUMAN plasma membrane calcium ATPase 4 isoform 4b 643 Cytoplasmic (Potential). ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding ovary(2)|skin(1) 3 all_cancers(21;0.071)|all_epithelial(62;0.228) BRCA - Breast invasive adenocarcinoma(75;0.109) TAGCTTACCGGGACTTCGATG 0.532 NA 6 40 1.6384e-10 2.6415e-10 0.001984 1 0 PIK3C2B 5287 broad.mit.edu 37 1 204438211 204438211 + Missense_Mutation SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:204438211C>G uc001haw.2 - 3 1199 c.720G>C c.(718-720)TTG>TTC p.L240F PIK3C2B_uc010pqv.1_Missense_Mutation_p.L240F|PIK3C2B_uc001hax.1_Missense_Mutation_p.L240F|PIK3C2B_uc009xbd.1_RNA NM_002646 NP_002637 O00750 P3C2B_HUMAN phosphoinositide-3-kinase, class 2 beta 240 Interaction with GRB2. cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1) 7 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) AGGTCGATTTCAAGTTGAGCC 0.567 NA 31 262 0 0 0.002445 0 0 LRRN2 10446 broad.mit.edu 37 1 204589036 204589036 + Missense_Mutation SNP A A T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:204589036A>T uc001hbe.1 - 3 473 c.85T>A c.(85-87)TGC>AGC p.C29S MDM4_uc001hbd.1_Intron|LRRN2_uc001hbf.1_Missense_Mutation_p.C29S|LRRN2_uc009xbf.1_Missense_Mutation_p.C29S|MDM4_uc001hbc.2_Intron NM_006338 NP_006329 O75325 LRRN2_HUMAN leucine rich repeat neuronal 2 precursor 29 Extracellular (Potential).|LRRNT. cell adhesion integral to membrane receptor activity central_nervous_system(2) 2 all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143) TGAGGGGGGCAGGGAACATGC 0.652 NA 9 26 0 0 0.008291 0 0 NFASC 23114 broad.mit.edu 37 1 204943892 204943892 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:204943892C>A uc001hbj.2 + 14 1827 c.1499C>A c.(1498-1500)ACC>AAC p.T500N NFASC_uc001hbh.2_Missense_Mutation_p.T500N|NFASC_uc010pqz.1_Missense_Mutation_p.T494N|NFASC_uc010pra.1_Missense_Mutation_p.T511N|NFASC_uc001hbi.2_Missense_Mutation_p.T511N|NFASC_uc010prb.1_Missense_Mutation_p.T511N|NFASC_uc010prc.1_Missense_Mutation_p.T67N|NFASC_uc001hbk.1_Missense_Mutation_p.T321N NM_001005388 NP_001005388 O94856 NFASC_HUMAN neurofascin isoform 1 precursor 500 Extracellular (Potential).|Ig-like C2-type 5. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) GGCATCTACACCTGTGTCGCC 0.522 NA 13 75 1.5842e-08 2.38251e-08 0.001855 1 0 RCOR3 55758 broad.mit.edu 37 1 211487016 211487016 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:211487016G>T uc001hig.2 + 11 1563 c.1394G>T c.(1393-1395)CGT>CTT p.R465L RCOR3_uc010psw.1_Missense_Mutation_p.R523L|RCOR3_uc001hif.2_3'UTR|RCOR3_uc009xcz.2_RNA NM_018254 NP_060724 Q9P2K3 RCOR3_HUMAN REST corepressor 3 isoform d 465 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171) ATGCCACCCCGTCTAAACCCA 0.522 NA 5 68 0.000602214 0.000715729 0.000602 1 0 TATDN3 128387 broad.mit.edu 37 1 212988354 212988354 + Splice_Site SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:212988354G>T uc001hjo.2 + 10 776 c.682_splice c.e10-1 p.V228_splice TATDN3_uc010ptj.1_Intron|TATDN3_uc010ptk.1_Splice_Site_p.V235_splice|TATDN3_uc001hjp.2_Splice_Site_p.V227_splice|TATDN3_uc010ptl.1_Splice_Site_p.V207_splice|TATDN3_uc010ptm.1_Splice_Site_p.V175_splice NM_001042552 NP_001036017 Q17R31 TATD3_HUMAN TatD DNase domain containing 3 isoform 1 nucleus endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding 0 OV - Ovarian serous cystadenocarcinoma(81;0.00699)|all cancers(67;0.0118)|GBM - Glioblastoma multiforme(131;0.0801)|Epithelial(68;0.104) TCTTGTTTCAGGTACGGAATG 0.413 NA 38 110 1.07637e-12 1.84618e-12 0.004878 1 0 PROX1 5629 broad.mit.edu 37 1 214184904 214184904 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:214184904G>T uc001hkh.2 + 4 2146 c.1874G>T c.(1873-1875)AGC>ATC p.S625I NM_002763 NP_002754 Q92786 PROX1_HUMAN prospero homeobox 1 625 Prospero-type homeobox. aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis cytoplasm|nucleus DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding ovary(3)|lung(1)|central_nervous_system(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219) AAGTGGTTTAGCAATTTCCGT 0.378 NA 9 69 3.09899e-07 4.40883e-07 0.004482 1 0 USH2A 7399 broad.mit.edu 37 1 216243601 216243601 + Missense_Mutation SNP C C A rs149465057 TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:216243601C>A uc001hku.1 - 30 6278 c.5891G>T c.(5890-5892)CGC>CTC p.R1964L NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 1964 Extracellular (Potential).|Fibronectin type-III 6. 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) ATTTAAGCTGCGGACTCTTGA 0.443 NA HNSCC(13;0.011) 19 44 3.32936e-07 4.72157e-07 0.006122 1 0 USH2A 7399 broad.mit.edu 37 1 216405433 216405433 + Nonsense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:216405433G>T uc001hku.1 - 14 3242 c.2855C>A c.(2854-2856)TCA>TAA p.S952* USH2A_uc001hkv.2_Nonsense_Mutation_p.S952* NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 952 Extracellular (Potential).|Laminin EGF-like 9. 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) TGTATGGCATGAGCATGGCAG 0.393 NA HNSCC(13;0.011) 18 63 6.49762e-13 1.1159e-12 0.006122 1 0 EPRS 2058 broad.mit.edu 37 1 220153525 220153525 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:220153525C>A uc001hly.1 - 26 3883 c.3613G>T c.(3613-3615)GTT>TTT p.V1205F NM_004446 NP_004437 P07814 SYEP_HUMAN glutamyl-prolyl tRNA synthetase 1205 Prolyl-tRNA synthetase. glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly cytosol|soluble fraction ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(131;0.0735) L-Glutamic Acid(DB00142)|L-Proline(DB00172) CCTTTAACAACAGGAATTGCC 0.358 NA 24 62 2.98393e-07 4.26775e-07 0.00278 1 0 EPRS 2058 broad.mit.edu 37 1 220160553 220160553 + Missense_Mutation SNP G G C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:220160553G>C uc001hly.1 - 20 3239 c.2969C>G c.(2968-2970)TCT>TGT p.S990C EPRS_uc010puf.1_Missense_Mutation_p.S741C|EPRS_uc001hlz.1_Missense_Mutation_p.S997C NM_004446 NP_004437 P07814 SYEP_HUMAN glutamyl-prolyl tRNA synthetase 990 Charged. glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly cytosol|soluble fraction ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(131;0.0735) L-Glutamic Acid(DB00142)|L-Proline(DB00172) TTGGTTTTTAGAAGGGTCTTT 0.423 NA 12 96 0 0 0.000978 0 0 GALNT2 2590 broad.mit.edu 37 1 230372467 230372467 + Silent SNP A A T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:230372467A>T uc010pwa.1 + 6 675 c.603A>T c.(601-603)CGA>CGT p.R201R GALNT2_uc010pvy.1_Silent_p.R163R|GALNT2_uc010pvz.1_RNA NM_004481 NP_004472 Q10471 GALT2_HUMAN polypeptide N-acetylgalactosaminyltransferase 2 201 Lumenal (Potential).|Catalytic subdomain A. immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2) 2 Breast(184;0.193)|Ovarian(103;0.249) all_cancers(173;0.156)|Prostate(94;0.179) ATGATCGACGAGAAGGTAAGA 0.398 NA 6 33 0 0 0.001984 0 0 RYR2 6262 broad.mit.edu 37 1 237540734 237540734 + Nonsense_Mutation SNP T T A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:237540734T>A uc001hyl.1 + 8 695 c.575T>A c.(574-576)TTG>TAG p.L192* NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 192 Cytoplasmic (By similarity).|MIR 2. 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) GAAAGGTACTTGGTAAGTGTG 0.383 NA 5 24 0 0 0.001168 0 0 RYR2 6262 broad.mit.edu 37 1 237753237 237753238 + Missense_Mutation DNP CC CC AA TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:237753237_237753238CC>AA uc001hyl.1 + 30 3863_3864 c.3743_3744CC>AA c.(3742-3744)ACC>AAA p.T1248K NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 1248 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) AGGGATATTACCATGTGGCTGA 0.386 NA 6 33 0 0 0.004672 0 0 RYR2 6262 broad.mit.edu 37 1 237791243 237791243 + Silent SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:237791243C>A uc001hyl.1 + 41 6423 c.6303C>A c.(6301-6303)GCC>GCA p.A2101A NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 2101 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) TTGTTCGGGCCCTGCCAAAGA 0.562 NA 9 27 2.74318e-10 4.40681e-10 0.006214 1 0 RYR2 6262 broad.mit.edu 37 1 237794803 237794803 + Nonsense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:237794803G>T uc001hyl.1 + 42 6637 c.6517G>T c.(6517-6519)GAG>TAG p.E2173* NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 2173 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) GACTGTGATGGAGGTCATGGT 0.438 NA 5 23 1.23904e-05 1.62503e-05 0.000602 1 0 ZP4 57829 broad.mit.edu 37 1 238048716 238048716 + Missense_Mutation SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:238048716G>A uc001hym.2 - 8 1135 c.1135C>T c.(1135-1137)CCA>TCA p.P379S LOC100130331_uc010pyc.1_Intron NM_021186 NP_067009 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 preproprotein 379 ZP.|Extracellular (Potential). acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity ovary(2)|skin(1) 3 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) GGCCACTGTGGCTGACTCAGG 0.537 NSCLC(166;160 2029 11600 18754 19936) NA 11 55 0 0 0.000978 0 0 CHRM3 1131 broad.mit.edu 37 1 240072433 240072433 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:240072433G>T uc001hyp.2 + 5 2461 c.1682G>T c.(1681-1683)TGC>TTC p.C561F NM_000740 NP_000731 P20309 ACM3_HUMAN cholinergic receptor, muscarinic 3 561 Cytoplasmic (By similarity). cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity ovary(4)|skin(1) 5 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505) CTGCTGCTGTGCCAGTGTGAC 0.517 NA 14 38 0.00185496 0.00218336 0.001855 1 0 FMN2 56776 broad.mit.edu 37 1 240256545 240256545 + Missense_Mutation SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:240256545G>A uc010pyd.1 + 1 1361 c.1136G>A c.(1135-1137)GGG>GAG p.G379E FMN2_uc010pye.1_Missense_Mutation_p.G379E NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 379 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CAGAGGCTGGGGGAAGAGCCG 0.726 NA 4 9 0 0 0.000248 0 0 MAP1LC3C 440738 broad.mit.edu 37 1 242161836 242161836 + Silent SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:242161836G>A uc001hzk.2 - 3 276 c.201C>T c.(199-201)ACC>ACT p.T67T NM_001004343 NP_001004343 Q9BXW4 MLP3C_HUMAN microtubule-associated protein 1 light chain 3 67 autophagy autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule protein binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(106;0.0188) TGAGGAACTGGGTCATGGTCA 0.622 NA OREG0014354 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 44 0 0 0.004482 0 0 NLRP3 114548 broad.mit.edu 37 1 247587966 247587966 + Silent SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:247587966C>A uc001icr.2 + 5 1359 c.1221C>A c.(1219-1221)ACC>ACA p.T407T NLRP3_uc001ics.2_Silent_p.T407T|NLRP3_uc001icu.2_Silent_p.T407T|NLRP3_uc001icw.2_Silent_p.T407T|NLRP3_uc001icv.2_Silent_p.T407T|NLRP3_uc010pyw.1_Silent_p.T405T|NLRP3_uc001ict.1_Silent_p.T405T NM_001079821 NP_001073289 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 isoform a 407 NACHT. T -> P (in CINCA). detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1) 26 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) TCCTCTTCACCATGTGCTTCA 0.547 NA 10 42 7.48243e-07 1.04676e-06 0.006214 1 0 NLRP3 114548 broad.mit.edu 37 1 247587984 247587984 + Silent SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:247587984G>T uc001icr.2 + 5 1377 c.1239G>T c.(1237-1239)CTG>CTT p.L413L NLRP3_uc001ics.2_Silent_p.L413L|NLRP3_uc001icu.2_Silent_p.L413L|NLRP3_uc001icw.2_Silent_p.L413L|NLRP3_uc001icv.2_Silent_p.L413L|NLRP3_uc010pyw.1_Silent_p.L411L|NLRP3_uc001ict.1_Silent_p.L411L NM_001079821 NP_001073289 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 isoform a 413 NACHT. detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1) 26 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) TCATCCCCCTGGTCTGCTGGA 0.547 NA 10 37 1.76689e-08 2.64247e-08 0.006214 1 0 OR2T12 127064 broad.mit.edu 37 1 248458172 248458172 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:248458172C>A uc010pzj.1 - 1 709 c.709G>T c.(709-711)GCC>TCC p.A237S NM_001004692 NP_001004692 Q8NG77 O2T12_HUMAN olfactory receptor, family 2, subfamily T, 237 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(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;0.0201) GAGCAGGTGGCAAAGGCCTTC 0.517 NA 16 80 3.41278e-10 5.4499e-10 0.00499 1 0 OR2T2 401992 broad.mit.edu 37 1 248616358 248616358 + Missense_Mutation SNP T T A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:248616358T>A uc001iek.1 + 1 260 c.260T>A c.(259-261)CTG>CAG p.L87Q NM_001004136 NP_001004136 Q6IF00 OR2T2_HUMAN olfactory receptor, family 2, subfamily T, 87 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 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) CAGGACCTCCTGTCCAAGGAC 0.537 NA 9 204 0 0 0.004007 0 0 OR2T27 403239 broad.mit.edu 37 1 248813817 248813817 + Nonsense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:248813817G>T uc010pzo.1 - 1 369 c.369C>A c.(367-369)TAC>TAA p.Y123* NM_001001824 NP_001001824 Q8NH04 O2T27_HUMAN olfactory receptor, family 2, subfamily T, 123 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199) all_cancers(173;0.237) OV - Ovarian serous cystadenocarcinoma(106;0.0265) AGATGGCTACGTAGCGATCAT 0.542 NA 20 47 3.99206e-14 7.06368e-14 0.007413 1 0 C10orf18 54906 broad.mit.edu 37 10 5791571 5791571 + Missense_Mutation SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr10:5791571C>G uc001iij.2 + 15 6812 c.6187C>G c.(6187-6189)CTG>GTG p.L2063V C10orf18_uc001iik.2_Missense_Mutation_p.L907V NM_017782 NP_060252 Q5VWN6 CJ018_HUMAN hypothetical protein LOC54906 2063 ovary(1)|central_nervous_system(1) 2 AGCCAGCAGTCTGGACAGCTC 0.493 NA 10 71 0 0 0.006214 0 0 SFMBT2 57713 broad.mit.edu 37 10 7214086 7214086 + Missense_Mutation SNP T T C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr10:7214086T>C uc009xio.1 - 19 2277 c.2186A>G c.(2185-2187)GAT>GGT p.D729G SFMBT2_uc001ijn.1_Missense_Mutation_p.D729G|SFMBT2_uc010qay.1_Missense_Mutation_p.D564G NM_001029880 NP_001025051 Q5VUG0 SMBT2_HUMAN Scm-like with four mbt domains 2 729 regulation of transcription, DNA-dependent nucleus ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1) 8 GGCGGTGTCATCGTCCATGGC 0.692 NA 3 14 0 0 0.004672 0 0 ITIH2 3698 broad.mit.edu 37 10 7755193 7755193 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr10:7755193G>T uc001ijs.2 + 5 574 c.412G>T c.(412-414)GGC>TGC p.G138C NM_002216 NP_002207 P19823 ITIH2_HUMAN inter-alpha globulin inhibitor H2 polypeptide 138 VIT. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(1)|pancreas(1)|skin(1) 3 GAAAACTGTGGGCCGAGCTCT 0.483 NA 11 74 0.00185496 0.00218336 0.001855 1 0 ITIH2 3698 broad.mit.edu 37 10 7771952 7771952 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr10:7771952G>T uc001ijs.2 + 12 1479 c.1317G>T c.(1315-1317)AAG>AAT p.K439N NM_002216 NP_002207 P19823 ITIH2_HUMAN inter-alpha globulin inhibitor H2 polypeptide 439 VWFA. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(1)|pancreas(1)|skin(1) 3 AAAACGTTAAGGAGAACATCC 0.358 NA 15 25 0.000422831 0.000509294 0.004007 1 0 TAF3 83860 broad.mit.edu 37 10 7866463 7866463 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr10:7866463G>T uc010qbd.1 + 2 349 c.349G>T c.(349-351)GCA>TCA p.A117S NM_031923 NP_114129 Q5VWG9 TAF3_HUMAN RNA polymerase II transcription factor TAFII140 117 maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription factor TFIID complex protein binding|zinc ion binding ovary(1) 1 AAGTAAAGATGCAGAGGAAAG 0.388 NA 28 55 0.000117367 0.000145008 0.005443 1 0 DHTKD1 55526 broad.mit.edu 37 10 12159749 12159749 + Silent SNP A A C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr10:12159749A>C uc001ild.3 + 14 2496 c.2397A>C c.(2395-2397)CCA>CCC p.P799P NM_018706 NP_061176 Q96HY7 DHTK1_HUMAN dehydrogenase E1 and transketolase domain 799 glycolysis mitochondrion oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding ovary(1)|central_nervous_system(1) 2 Renal(717;0.228) BRCA - Breast invasive adenocarcinoma(52;0.188) CTGTGGATCCAAAAAAGTAAG 0.413 NA 6 80 0 0 0.001168 0 0 PRPF18 8559 broad.mit.edu 37 10 13672285 13672285 + Missense_Mutation SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr10:13672285G>A uc001imp.2 + 10 1122 c.974G>A c.(973-975)TGC>TAC p.C325Y PRPF18_uc001imq.2_Intron NM_003675 NP_003666 Q99633 PRP18_HUMAN PRP18 pre-mRNA processing factor 18 homolog 325 mRNA processing|RNA splicing nuclear speck|spliceosomal complex central_nervous_system(1) 1 ATGACCATTTGCCAGAAACAC 0.299 NA 12 68 0 0 0.003163 0 0 FAM171A1 221061 broad.mit.edu 37 10 15256342 15256342 + Silent SNP G G C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr10:15256342G>C uc001iob.2 - 8 1252 c.1245C>G c.(1243-1245)CTC>CTG p.L415L NM_001010924 NP_001010924 Q5VUB5 F1711_HUMAN hypothetical protein LOC221061 precursor 415 Cytoplasmic (Potential). integral to membrane ovary(2)|breast(1)|skin(1) 4 AGGAGAGCTTGAGCATGGGGG 0.582 NA 3 75 0 0 0.004672 0 0 FAM171A1 221061 broad.mit.edu 37 10 15263042 15263042 + Missense_Mutation SNP C C A rs146109085 TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr10:15263042C>A uc001iob.2 - 6 779 c.772G>T c.(772-774)GGT>TGT p.G258C NM_001010924 NP_001010924 Q5VUB5 F1711_HUMAN hypothetical protein LOC221061 precursor 258 Extracellular (Potential). integral to membrane ovary(2)|breast(1)|skin(1) 4 AGACCCAGACCGCTCTTCAGC 0.537 NA 5 59 1.23904e-05 1.62503e-05 0.000602 1 0 ITGA8 8516 broad.mit.edu 37 10 15760795 15760795 + Nonsense_Mutation SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr10:15760795G>A uc001ioc.1 - 2 313 c.313C>T c.(313-315)CAG>TAG p.Q105* ITGA8_uc010qcb.1_Nonsense_Mutation_p.Q105* NM_003638 NP_003629 P53708 ITA8_HUMAN integrin, alpha 8 precursor 105 Extracellular (Potential).|FG-GAP 1. cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity ovary(3)|lung(3) 6 TGCCTGCACTGCGCAGACCCC 0.597 NA 7 78 0 0 0.00308 0 0 MRC1 4360 broad.mit.edu 37 10 17949705 17949705 + Missense_Mutation SNP A A G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr10:17949705A>G uc001ipk.2 + 28 4172 c.4069A>G c.(4069-4071)AGA>GGA p.R1357G NM_002438 NP_002429 P22897 MRC1_HUMAN mannose receptor C type 1 precursor 1357 Extracellular (Potential). receptor-mediated endocytosis endosome membrane|integral to plasma membrane mannose binding|receptor activity 0 TATTTGTAAAAGACCAAAAAG 0.363 GBM(115;1153 1594 28187 28781 35884) NA 49 111 0 0 0.00361 0 0 MLLT10 8028 broad.mit.edu 37 10 22002777 22002777 + Silent SNP C C T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr10:22002777C>T uc001iqs.2 + 15 2172 c.1824C>T c.(1822-1824)TCC>TCT p.S608S MLLT10_uc001iqt.2_Silent_p.S592S|MLLT10_uc001iqv.2_RNA|MLLT10_uc001iqy.2_Silent_p.S592S|MLLT10_uc001ira.2_Silent_p.S49S|MLLT10_uc001irb.2_RNA NM_004641 NP_004632 P55197 AF10_HUMAN myeloid/lymphoid or mixed-lineage leukemia 608 DNA-binding. positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(1)|skin(1) 2 CTCCTGTCTCCAGCTCTCACT 0.453 NA T MLL|PICALM|CDK6 AL 13 65 0 0 0.004007 0 0 GPR158 57512 broad.mit.edu 37 10 25883274 25883274 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr10:25883274C>A uc001isj.2 + 9 2006 c.1946C>A c.(1945-1947)GCA>GAA p.A649E GPR158_uc001isk.2_Missense_Mutation_p.A24E NM_020752 NP_065803 Q5T848 GP158_HUMAN G protein-coupled receptor 158 precursor 649 Helical; Name=7; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(4)|large_intestine(2)|pancreas(1)|skin(1) 8 CTGTATTTTGCACATACTCAT 0.318 NA 23 59 1.55469e-16 2.86413e-16 0.00333 1 0 ARMC4 55130 broad.mit.edu 37 10 28149741 28149741 + Missense_Mutation SNP G G C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr10:28149741G>C uc009xky.2 - 19 2932 c.2834C>G c.(2833-2835)GCT>GGT p.A945G ARMC4_uc010qds.1_Missense_Mutation_p.A470G|ARMC4_uc010qdt.1_Missense_Mutation_p.A637G|ARMC4_uc001itz.2_Missense_Mutation_p.A945G NM_018076 NP_060546 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 945 ARM 8. binding ovary(4)|skin(2) 6 ACGTGAAATAGCTTCTGCTAG 0.433 NA 10 48 0 0 0.006214 0 0 KIAA1462 57608 broad.mit.edu 37 10 30336711 30336711 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr10:30336711G>T uc001iux.2 - 1 90 c.31C>A c.(31-33)CAT>AAT p.H11N KIAA1462_uc001iuy.2_Missense_Mutation_p.H11N|KIAA1462_uc001iuz.2_5'UTR|KIAA1462_uc009xle.1_Missense_Mutation_p.H11N NM_020848 NP_065899 Q9P266 K1462_HUMAN hypothetical protein LOC57608 11 ovary(4) 4 TTGTATCCATGAGAGATCAGG 0.592 NA 13 89 0.000151284 0.00018657 0.001855 1 0 FAM21C 253725 broad.mit.edu 37 10 46264993 46264993 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr10:46264993G>T uc001jcu.2 + 20 2065 c.1966G>T c.(1966-1968)GCC>TCC p.A656S FAM21C_uc001jcs.1_Missense_Mutation_p.A599S|FAM21C_uc001jct.2_Missense_Mutation_p.A654S|FAM21C_uc010qfi.1_Missense_Mutation_p.A632S|FAM21C_uc010qfj.1_5'UTR|FAM21C_uc010qfk.1_5'UTR NM_015262 NP_056077 A8K5W5 A8K5W5_HUMAN hypothetical protein LOC253725 656 ovary(1) 1 GAGCCAGGAGGCCAAGGCTGT 0.493 NA 41 100 1.57019e-19 2.99541e-19 0.007835 1 0 CSTF2T 23283 broad.mit.edu 37 10 53458533 53458533 + Missense_Mutation SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr10:53458533C>G uc001jjp.2 - 1 823 c.777G>C c.(775-777)CAG>CAC p.Q259H PRKG1_uc001jjm.2_Intron|PRKG1_uc001jjn.2_Intron|PRKG1_uc001jjo.2_Intron NM_015235 NP_056050 Q9H0L4 CSTFT_HUMAN cleavage stimulation factor, 3' pre-RNA, subunit 259 mRNA processing nucleus nucleotide binding|RNA binding ovary(1) 1 COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122) GAATTCCACCCTGGATAGGAG 0.547 NA 4 34 0 0 0.000248 0 0 PCDH15 65217 broad.mit.edu 37 10 55566610 55566610 + Missense_Mutation SNP A A T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr10:55566610A>T uc010qhq.1 - 36 5173 c.4778T>A c.(4777-4779)CTG>CAG p.L1593Q PCDH15_uc010qhr.1_Missense_Mutation_p.L1588Q NM_001142771 NP_001136243 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD3-1 precursor Error:Variant_position_missing_in_Q96QU1_after_alignment 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) TAATGTGTTCAGAGGTACATT 0.468 NA HNSCC(58;0.16) 12 235 0 0 0.001855 0 0 FAM13C 220965 broad.mit.edu 37 10 61083748 61083748 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr10:61083748C>A uc001jkn.2 - 5 577 c.443G>T c.(442-444)AGA>ATA p.R148I FAM13C_uc001jko.2_Missense_Mutation_p.R148I|FAM13C_uc010qid.1_Missense_Mutation_p.R65I|FAM13C_uc010qie.1_Missense_Mutation_p.R65I|FAM13C_uc010qif.1_Missense_Mutation_p.R170I|FAM13C_uc001jkp.2_Missense_Mutation_p.R65I NM_198215 NP_937858 Q8NE31 FA13C_HUMAN hypothetical protein LOC220965 isoform 1 148 ovary(2) 2 AAGGGCCCACCTTGGTTGAAG 0.498 NA 9 134 2.17888e-05 2.81911e-05 0.006214 1 0 HKDC1 80201 broad.mit.edu 37 10 71000429 71000429 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr10:71000429G>T uc001jpf.3 + 6 746 c.613G>T c.(613-615)GCC>TCC p.A205S HKDC1_uc010qje.1_Missense_Mutation_p.A68S NM_025130 NP_079406 Q2TB90 HKDC1_HUMAN hexokinase domain containing 1 205 glycolysis mitochondrion|nucleus ATP binding|hexokinase activity ovary(4)|skin(1) 5 GGACATCCTGGCCCTGGTCAA 0.572 NA 18 34 1.9806e-07 2.84182e-07 0.002299 1 0 COL13A1 1305 broad.mit.edu 37 10 71678040 71678040 + Splice_Site SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr10:71678040G>T uc001jpr.1 + 18 1533 c.997_splice c.e18-1 p.G333_splice COL13A1_uc001jqj.1_Splice_Site_p.G333_splice|COL13A1_uc001jps.1_Splice_Site_p.G304_splice|COL13A1_uc001jpt.1_Splice_Site_p.G292_splice|COL13A1_uc001jpu.1_Splice_Site_p.G314_splice|COL13A1_uc001jpv.1_Splice_Site_p.G333_splice|COL13A1_uc001jpx.1_Splice_Site_p.G311_splice|COL13A1_uc001jpw.1_Splice_Site_p.G280_splice|COL13A1_uc001jpy.1_Splice_Site_p.G271_splice|COL13A1_uc001jpz.1_Splice_Site_p.G276_splice|COL13A1_uc001jqa.1_Splice_Site_p.G273_splice|COL13A1_uc001jqc.1_Splice_Site_p.G333_splice|COL13A1_uc001jqb.1_Splice_Site_p.G282_splice|COL13A1_uc001jql.2_Splice_Site_p.G333_splice|COL13A1_uc001jqd.1_Splice_Site_p.G321_splice|COL13A1_uc001jqe.1_Splice_Site_p.G316_splice|COL13A1_uc001jqf.1_Splice_Site_p.G314_splice|COL13A1_uc001jqg.1_Splice_Site_p.G311_splice|COL13A1_uc001jqh.1_Splice_Site_p.G333_splice|COL13A1_uc001jqi.1_Splice_Site_p.G333_splice|COL13A1_uc010qjf.1_Splice_Site_p.G123_splice|COL13A1_uc001jqk.1_Splice_Site_p.G171_splice NM_005203 NP_005194 Q5TAT6 CODA1_HUMAN alpha 1 type XIII collagen isoform 1 cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure collagen type XIII|integral to membrane extracellular matrix structural constituent|heparin binding|protein binding ovary(1) 1 Atorvastatin(DB01076)|Simvastatin(DB00641) CTCTCTGCCAGGGGGCGCCCG 0.602 NA 13 30 7.03913e-09 1.07427e-08 0.001368 1 0 CDHR1 92211 broad.mit.edu 37 10 85974034 85974034 + Missense_Mutation SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr10:85974034C>G uc001kcv.2 + 17 2237 c.2237C>G c.(2236-2238)CCT>CGT p.P746R CDHR1_uc001kcw.2_Intron|CDHR1_uc009xst.2_Missense_Mutation_p.P450R|CDHR1_uc001kcx.2_Missense_Mutation_p.P60R NM_033100 NP_149091 Q96JP9 CDHR1_HUMAN protocadherin 21 precursor 746 Cytoplasmic (Potential). homophilic cell adhesion calcium ion binding|receptor activity ovary(1) 1 CGGCCCAGCCCTGCGCCCCGC 0.582 NA 20 34 0 0 0.001216 0 0 LIPF 8513 broad.mit.edu 37 10 90427435 90427435 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr10:90427435G>T uc001kfg.1 + 3 381 c.215G>T c.(214-216)GGG>GTG p.G72V LIPF_uc009xtk.2_Missense_Mutation_p.G72V|LIPF_uc001kfh.1_Missense_Mutation_p.G82V|LIPF_uc010qmt.1_Missense_Mutation_p.G82V|LIPF_uc010qmu.1_Missense_Mutation_p.G72V NM_004190 NP_004181 P07098 LIPG_HUMAN lipase, gastric precursor 72 lipid catabolic process|triglyceride metabolic process extracellular region lipid binding|triglyceride lipase activity 0 Colorectal(252;0.0161) Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05) AAAAATTCAGGGAATACAGGT 0.204 NA 25 87 1.17739e-12 2.00665e-12 0.005443 1 0 SLC16A12 387700 broad.mit.edu 37 10 91198926 91198926 + Missense_Mutation SNP G G C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr10:91198926G>C uc001kgm.2 - 6 764 c.373C>G c.(373-375)CTT>GTT p.L125V SLC16A12_uc001kgl.2_5'Flank NM_213606 NP_998771 Q6ZSM3 MOT12_HUMAN solute carrier family 16 (monocarboxylic acid 125 Helical; (Potential). integral to membrane|plasma membrane symporter activity skin(1) 1 GAGTAACAAAGTGCAAATCCA 0.418 NA 3 58 0 0 0.004672 0 0 IDE 3416 broad.mit.edu 37 10 94228661 94228661 + Silent SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr10:94228661C>A uc001kia.2 - 19 2371 c.2295G>T c.(2293-2295)CGG>CGT p.R765R IDE_uc010qnp.1_Silent_p.R210R|IDE_uc001khz.2_Silent_p.R210R NM_004969 NP_004960 P14735 IDE_HUMAN insulin-degrading enzyme isoform 1 precursor 765 beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation cell surface|extracellular space|soluble fraction ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding ovary(2)|central_nervous_system(1) 3 Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CTTCTCTATACCGAACCAGCT 0.428 NA 3 33 2.56e-06 3.49044e-06 0.000248 1 0 ABCC2 1244 broad.mit.edu 37 10 101560265 101560265 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr10:101560265G>T uc001kqf.2 + 9 1293 c.1154G>T c.(1153-1155)TGC>TTC p.C385F NM_000392 NP_000383 Q92887 MRP2_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), 385 Cytoplasmic (By similarity).|ABC transmembrane type-1 1. apical plasma membrane|integral to plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity ovary(1) 1 Colorectal(252;0.234) Epithelial(162;2.77e-10)|all cancers(201;2.47e-08) Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) TTCCAACTGTGCTTCAAGCTG 0.433 NA 9 146 3.09899e-07 4.40883e-07 0.004482 1 0 SORCS1 114815 broad.mit.edu 37 10 108923926 108923926 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr10:108923926C>A uc001kym.2 - 1 367 c.359G>T c.(358-360)CGG>CTG p.R120L SORCS1_uc001kyl.2_Missense_Mutation_p.R120L|SORCS1_uc009xxs.2_Missense_Mutation_p.R120L|SORCS1_uc001kyn.1_Missense_Mutation_p.R120L|SORCS1_uc001kyo.2_Missense_Mutation_p.R120L NM_052918 NP_443150 Q8WY21 SORC1_HUMAN SORCS receptor 1 isoform a 120 Lumenal (Potential). integral to membrane neuropeptide receptor activity|protein binding breast(1)|central_nervous_system(1) 2 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) GCCCTCTCCCCGTTCTGCCTT 0.701 NA 8 28 0.000157383 0.000191976 0.00308 1 0 NRAP 4892 broad.mit.edu 37 10 115364431 115364431 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr10:115364431G>T uc001laj.2 - 35 4328 c.4164C>A c.(4162-4164)TTC>TTA p.F1388L NRAP_uc009xyb.2_Missense_Mutation_p.F177L|NRAP_uc001lak.2_Missense_Mutation_p.F1353L|NRAP_uc001lal.3_Missense_Mutation_p.F1388L NM_198060 NP_932326 Q86VF7 NRAP_HUMAN nebulin-related anchoring protein isoform S 1388 Nebulin 36. fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1) 10 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) GCAGTGCTGTGAACTTGTGAT 0.597 NA 15 41 1.49906e-05 1.9584e-05 0.00245 1 0 ATRNL1 26033 broad.mit.edu 37 10 117024743 117024743 + Silent SNP A A G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr10:117024743A>G uc001lcg.2 + 11 2147 c.1761A>G c.(1759-1761)GTA>GTG p.V587V NM_207303 NP_997186 Q5VV63 ATRN1_HUMAN attractin-like 1 precursor 587 Kelch 5.|Extracellular (Potential). 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) ACTCTGCAGTAGTCATTAACG 0.299 NA 7 125 0 0 0.001984 0 0 C10orf46 143384 broad.mit.edu 37 10 120450853 120450853 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr10:120450853C>A uc001lds.1 - 7 1433 c.949G>T c.(949-951)GTG>TTG p.V317L C10orf46_uc010qst.1_RNA NM_153810 NP_722517 Q86Y37 CJ046_HUMAN chromosome 10 open reading frame 46 317 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex ubiquitin protein ligase binding 0 Lung NSC(174;0.142)|all_lung(145;0.175) all cancers(201;0.0131) TCAGATTCCACCGCCGGAGGG 0.358 NA 46 132 1.47857e-17 2.75795e-17 0.00361 1 0 MKI67 4288 broad.mit.edu 37 10 129904768 129904768 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr10:129904768C>A uc001lke.2 - 13 5531 c.5336G>T c.(5335-5337)GGC>GTC p.G1779V MKI67_uc001lkf.2_Missense_Mutation_p.G1419V|MKI67_uc009yav.1_Missense_Mutation_p.G1354V|MKI67_uc009yaw.1_Missense_Mutation_p.G929V NM_002417 NP_002408 P46013 KI67_HUMAN antigen identified by monoclonal antibody Ki-67 1779 7.|16 X 122 AA approximate repeats. 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) CATGGCTTTGCCTGCTGATGG 0.473 NA 50 96 1.30916e-28 2.59706e-28 0.00361 1 0 BNIP3 664 broad.mit.edu 37 10 133786581 133786581 + Missense_Mutation SNP G G C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr10:133786581G>C uc001lkv.1 - 3 365 c.239C>G c.(238-240)TCT>TGT p.S80C BNIP3_uc001lku.1_5'Flank|BNIP3_uc010qut.1_Missense_Mutation_p.S80C NM_004052 NP_004043 Q12983 BNIP3_HUMAN BCL2/adenovirus E1B 19kD-interacting protein 3 80 cellular response to cobalt ion|cellular response to hypoxia|cellular response to mechanical stimulus|chromatin remodeling|defense response to virus|DNA fragmentation involved in apoptotic nuclear change|induction of apoptosis|interspecies interaction between organisms|mitochondrial fragmentation involved in apoptosis|negative regulation of membrane potential|negative regulation of mitochondrial fusion|negative regulation of survival gene product expression|neuron apoptosis|positive regulation of mitochondrial fission|positive regulation of protein complex disassembly|positive regulation of release of cytochrome c from mitochondria|reactive oxygen species metabolic process|regulation of mitochondrial membrane permeability dendrite|integral to mitochondrial outer membrane|nuclear envelope|nucleoplasm GTPase binding|protein heterodimerization activity|protein homodimerization activity lung(1)|skin(1) 2 all_cancers(35;4e-11)|all_epithelial(44;5.07e-08)|Ovarian(717;2.61e-05)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Breast(234;0.023)|all_neural(114;0.0299)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203) Epithelial(32;1.59e-12)|all cancers(32;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(35;2.57e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) ATCTGTTTCAGAAGCTCTGTT 0.423 NA 6 171 0 0 0.001984 0 0 MTG1 92170 broad.mit.edu 37 10 135213068 135213068 + Silent SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr10:135213068C>G uc001lnd.2 + 6 560 c.456C>G c.(454-456)CCC>CCG p.P152P MTG1_uc010qve.1_Intron NM_138384 NP_612393 Q9BT17 MTG1_HUMAN GTP_binding protein precursor 152 mitochondrion GTP binding|protein binding skin(1) 1 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|all cancers(32;1.69e-06)|Epithelial(32;1.94e-06) TTGGGGTCCCCAACGTGGGCA 0.622 NA 15 50 0 0 0.003163 0 0 MUC2 4583 broad.mit.edu 37 11 1087978 1087978 + Silent SNP C C T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr11:1087978C>T uc001lsx.1 + 25 3480 c.3453C>T c.(3451-3453)ATC>ATT p.I1151I NM_002457 NP_002448 Q02817 MUC2_HUMAN mucin 2 precursor 1151 inner mucus layer|outer mucus layer protein binding lung(1)|breast(1) 2 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) TCAACGGCATCCACTCCAACA 0.627 NA 3 12 0 0 0.000248 0 0 MUC5B 727897 broad.mit.edu 37 11 1272524 1272524 + Missense_Mutation SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr11:1272524C>G uc009ycr.1 + 52 15506 c.15380C>G c.(15379-15381)TCC>TGC p.S5127C MUC5B_uc001ltb.2_Missense_Mutation_p.S4808C NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GCCACCAATTCCACGGCCACA 0.602 NA 10 92 0 0 0.000978 0 0 TSPAN32 10077 broad.mit.edu 37 11 2337814 2337814 + Silent SNP C C T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr11:2337814C>T uc001lvy.1 + 8 773 c.636C>T c.(634-636)GCC>GCT p.A212A TSPAN32_uc010qxk.1_3'UTR|TSPAN32_uc009ydl.1_Intron|TSPAN32_uc001lvz.1_Silent_p.A182A|TSPAN32_uc001lwb.1_Silent_p.A182A|TSPAN32_uc001lwc.1_Silent_p.A157A|TSPAN32_uc001lwd.1_Silent_p.A144A NM_139022 NP_620591 Q96QS1 TSN32_HUMAN tumor-suppressing subtransferable candidate 6 212 Helical; (Potential). cell-cell signaling integral to membrane central_nervous_system(1) 1 all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209) BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153) AGGTGTCCGCCTTGCTCTTCA 0.677 NA 12 37 0 0 0.000978 0 0 RHOG 391 broad.mit.edu 37 11 3849149 3849149 + Missense_Mutation SNP G G C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr11:3849149G>C uc001lyu.2 - 2 378 c.220C>G c.(220-222)CAG>GAG p.Q74E NM_001665 NP_001656 P84095 RHOG_HUMAN ras homolog gene family, member G precursor 74 actin cytoskeleton organization|activation of Rac GTPase activity|axon guidance|cell chemotaxis|platelet activation|positive regulation of cell proliferation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of transcription, DNA-dependent|Rac protein signal transduction|Rho protein signal transduction cytosol|plasma membrane GTP binding|GTPase activity|protein binding 0 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0349)|LUSC - Lung squamous cell carcinoma(625;0.194) ACGTTGGTCTGAGGGTAGGAG 0.602 NA 4 59 0 0 0.001984 0 0 OR51G1 79324 broad.mit.edu 37 11 4945465 4945465 + Silent SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr11:4945465G>A uc010qyr.1 - 1 105 c.105C>T c.(103-105)TTC>TTT p.F35F NM_001005237 NP_001005237 Q8NGK1 O51G1_HUMAN olfactory receptor, family 51, subfamily G, 35 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) TCAGGTAGATGAAGCAGAAGG 0.478 NA 4 53 0 0 0.000602 0 0 OR51L1 119682 broad.mit.edu 37 11 5020306 5020306 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr11:5020306C>A uc010qyu.1 + 1 94 c.94C>A c.(94-96)CTC>ATC p.L32I NM_001004755 NP_001004755 Q8NGJ5 O51L1_HUMAN olfactory receptor, family 51, subfamily L, 32 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) GCTCTCCATCCTCTTCTGTCT 0.428 NA 51 137 1.33152e-38 2.68101e-38 0.00361 1 0 OR52A4 390053 broad.mit.edu 37 11 5142343 5142343 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr11:5142343G>T uc001lzz.1 - 1 466 c.466C>A c.(466-468)CCT>ACT p.P156T NM_001005222 NP_001005222 olfactory receptor, family 52, subfamily A, ovary(2) 2 Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675) Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2) AGAATGGCAGGCCGCAATGTC 0.463 NA 15 50 1.37285e-15 2.4715e-15 0.004007 1 0 OR52A5 390054 broad.mit.edu 37 11 5152990 5152990 + Missense_Mutation SNP A A G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr11:5152990A>G uc010qyx.1 - 1 883 c.883T>C c.(883-885)TAT>CAT p.Y295H NM_001005160 NP_001005160 Q9H2C5 O52A5_HUMAN olfactory receptor, family 52, subfamily A, 295 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|lung(1)|central_nervous_system(1) 4 Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2) TTCACTCCATAGACAATAGGG 0.373 NA 15 40 0 0 0.004007 0 0 OR51I1 390063 broad.mit.edu 37 11 5462541 5462541 + Silent SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr11:5462541G>T uc010qze.1 - 1 204 c.204C>A c.(202-204)CTC>CTA p.L68L HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001005288 NP_001005288 Q9H343 O51I1_HUMAN olfactory receptor, family 51, subfamily I, 68 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CATTGAGAGCGAGCATAGAGA 0.468 NA 11 53 1.58986e-06 2.20122e-06 0.008291 1 0 OR56A3 390083 broad.mit.edu 37 11 5969313 5969313 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr11:5969313G>T uc010qzt.1 + 1 737 c.737G>T c.(736-738)GGC>GTC p.G246V NM_001003443 NP_001003443 Q8NH54 O56A3_HUMAN olfactory receptor, family 56, subfamily A, 246 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGCACATGTGGCTCCCACTTC 0.517 NA 49 148 6.14515e-18 1.15587e-17 0.00361 1 0 OR56A5 390084 broad.mit.edu 37 11 5989001 5989001 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr11:5989001C>A uc010qzu.1 - 1 724 c.724G>T c.(724-726)GGT>TGT p.G242C NM_001146033 NP_001139505 P0C7T3 O56A5_HUMAN olfactory receptor, family 56, subfamily A, 242 Cytoplasmic (Potential). integral to membrane|plasma membrane olfactory receptor activity 0 CCACAAGTACCTAGAGCTTTG 0.473 NA 7 17 0.00198382 0.00231877 0.001984 1 0 OR56B4 196335 broad.mit.edu 37 11 6129206 6129206 + Nonsense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr11:6129206C>A uc010qzx.1 + 1 198 c.198C>A c.(196-198)TAC>TAA p.Y66* NM_001005181 NP_001005181 Q8NH76 O56B4_HUMAN olfactory receptor, family 56, subfamily B, 66 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) AACCCATGTACCATTTGCTGG 0.517 NA 18 29 3.52763e-06 4.77101e-06 0.00499 1 0 OR56B4 196335 broad.mit.edu 37 11 6129645 6129645 + Missense_Mutation SNP G G C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr11:6129645G>C uc010qzx.1 + 1 637 c.637G>C c.(637-639)GTT>CTT p.V213L NM_001005181 NP_001005181 Q8NH76 O56B4_HUMAN olfactory receptor, family 56, subfamily B, 213 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) ATGGGTCTTGGTTGGGAGTGA 0.478 NA 40 151 0 0 0.006999 0 0 CCKBR 887 broad.mit.edu 37 11 6292011 6292011 + Silent SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr11:6292011C>A uc001mcp.2 + 4 982 c.789C>A c.(787-789)GTC>GTA p.V263V CCKBR_uc001mcq.2_Silent_p.V191V|CCKBR_uc001mcr.2_Silent_p.V263V|CCKBR_uc001mcs.2_Silent_p.V263V|CCKBR_uc001mct.1_RNA NM_176875 NP_795344 P32239 GASR_HUMAN cholecystokinin B receptor 263 Cytoplasmic (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception 1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding lung(5)|ovary(2)|breast(1) 8 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139) Pentagastrin(DB00183) AAAGCAGGGTCCGAAACCAAG 0.642 NA 17 35 6.94344e-10 1.10095e-09 0.006122 1 0 DCHS1 8642 broad.mit.edu 37 11 6648657 6648657 + Silent SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr11:6648657C>A uc001mem.1 - 14 6023 c.5613G>T c.(5611-5613)GGG>GGT p.G1871G NM_003737 NP_003728 Q96JQ0 PCD16_HUMAN dachsous 1 precursor 1871 Cadherin 18.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|large_intestine(1)|pancreas(1) 5 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCAGCAGGGTCCCTGCAGGCA 0.607 NA 3 8 6.4e-05 8.03467e-05 0.004672 1 0 OR10A6 390093 broad.mit.edu 37 11 7950041 7950041 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr11:7950041C>A uc010rbh.1 - 1 169 c.169G>T c.(169-171)GTT>TTT p.V57F NM_001004461 NP_001004461 Q8NH74 O10A6_HUMAN olfactory receptor, family 10, subfamily A, 57 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) TACATGGGAACGTGGAGGCTC 0.468 NA 37 82 6.5261e-18 1.22581e-17 0.00874 1 0 TUB 7275 broad.mit.edu 37 11 8123070 8123070 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr11:8123070G>T uc001mga.2 + 12 1574 c.1425G>T c.(1423-1425)GAG>GAT p.E475D TUB_uc010rbk.1_Missense_Mutation_p.E481D|TUB_uc001mfy.2_Missense_Mutation_p.E530D NM_177972 NP_813977 P50607 TUB_HUMAN tubby isoform b 475 phagocytosis|positive regulation of phagocytosis|response to stimulus cytoplasm|extracellular region|nucleus|plasma membrane ovary(1) 1 all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17) Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184) GGGTAGCAGAGGATGTGTTCA 0.572 NA 24 90 4.72057e-08 6.96674e-08 0.003954 1 0 NRIP3 56675 broad.mit.edu 37 11 9009769 9009769 + Missense_Mutation SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr11:9009769C>G uc001mhg.2 - 2 349 c.235G>C c.(235-237)GGT>CGT p.G79R NRIP3_uc010rbu.1_Missense_Mutation_p.G79R NM_020645 NP_065696 Q9NQ35 NRIP3_HUMAN nuclear receptor interacting protein 3 79 proteolysis aspartic-type endopeptidase activity 0 Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241) ACACGGGGACCGCTTCGGAGC 0.493 NA 18 58 0 0 0.006122 0 0 USH1C 10083 broad.mit.edu 37 11 17544392 17544392 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr11:17544392G>T uc001mnf.2 - 12 1067 c.958C>A c.(958-960)CAG>AAG p.Q320K USH1C_uc001mne.2_Missense_Mutation_p.Q320K|USH1C_uc009yhb.2_Missense_Mutation_p.Q301K|USH1C_uc001mng.2_RNA|USH1C_uc001mnd.2_Missense_Mutation_p.Q284K NM_005709 NP_005700 Q9Y6N9 USH1C_HUMAN harmonin isoform a 320 Potential. equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound apical part of cell|cytoplasm|stereocilium protein binding ovary(1) 1 AGCCGCTTCTGCATGAGAAGC 0.657 NA 3 15 0.004672 0.00538583 0.004672 1 0 IGSF22 283284 broad.mit.edu 37 11 18738369 18738369 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr11:18738369G>T uc009yht.2 - 10 1342 c.1152C>A c.(1150-1152)CAC>CAA p.H384Q IGSF22_uc001mpa.2_RNA NM_173588 NP_775859 Q8N9C0 IGS22_HUMAN immunoglobulin superfamily, member 22 384 ovary(4)|large_intestine(2)|kidney(1) 7 TCTTAAGCGTGTGCGTCAGAC 0.517 NA 43 129 2.35958e-20 4.55305e-20 0.002222 1 0 NAV2 89797 broad.mit.edu 37 11 20119157 20119157 + Missense_Mutation SNP T T C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr11:20119157T>C uc001mpr.3 + 31 6417 c.6056T>C c.(6055-6057)CTA>CCA p.L2019P NAV2_uc001mpp.2_Missense_Mutation_p.L1952P|NAV2_uc009yhx.2_Missense_Mutation_p.L1080P|NAV2_uc009yhz.2_Missense_Mutation_p.L661P|NAV2_uc001mpu.2_Missense_Mutation_p.L454P NM_182964 NP_892009 Q8IVL1 NAV2_HUMAN neuron navigator 2 isoform 1 2075 L -> V (in Ref. 7; BAB85038). nucleus ATP binding|helicase activity skin(4)|ovary(1)|pancreas(1) 6 GTGAGTCAGCTAGGGCTGAAT 0.448 NA 20 55 0 0 0.001216 0 0 DBX1 120237 broad.mit.edu 37 11 20178115 20178115 + Missense_Mutation SNP T T C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr11:20178115T>C uc001mpw.1 - 4 794 c.794A>G c.(793-795)AAA>AGA p.K265R NM_001029865 NP_001025036 A6NMT0 DBX1_HUMAN developing brain homeobox 1 226 Homeobox. multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 GAACCAGATTTTCACCTGGAA 0.647 NA 8 72 0 0 0.00308 0 0 PRMT3 10196 broad.mit.edu 37 11 20429456 20429456 + Splice_Site SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr11:20429456G>T uc001mqb.2 + 9 989 c.772_splice c.e9-1 p.V258_splice PRMT3_uc001mqc.2_Splice_Site_p.V181_splice|PRMT3_uc010rdn.1_Splice_Site_p.V196_splice NM_005788 NP_005779 O60678 ANM3_HUMAN protein arginine methyltransferase 3 isoform 1 zinc ion binding 0 AATTACCCTAGGTAGTTTTGG 0.343 NA 28 63 1.04121e-07 1.515e-07 0.005443 1 0 C11orf41 25758 broad.mit.edu 37 11 33572767 33572767 + Nonsense_Mutation SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr11:33572767G>A uc001mup.3 + 4 2934 c.2810G>A c.(2809-2811)TGG>TAG p.W937* C11orf41_uc001mun.1_Nonsense_Mutation_p.W937* NM_012194 NP_036326 Q6ZVL6 CK041_HUMAN hypothetical protein LOC25758 931 integral to membrane ovary(2) 2 GCCTCCCCATGGAATCCCCAG 0.527 NA 4 62 0 0 0.000248 0 0 LRRC4C 57689 broad.mit.edu 37 11 40136437 40136437 + Missense_Mutation SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr11:40136437G>A uc001mxa.1 - 2 3370 c.1406C>T c.(1405-1407)GCA>GTA p.A469V LRRC4C_uc001mxc.1_Missense_Mutation_p.A465V|LRRC4C_uc001mxd.1_Missense_Mutation_p.A465V|LRRC4C_uc001mxb.1_Missense_Mutation_p.A465V NM_020929 NP_065980 Q9HCJ2 LRC4C_HUMAN netrin-G1 ligand precursor 469 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) TGTGGTCCGTGCCTCATCCTG 0.522 NA 19 48 0 0 0.001216 0 0 LRRC4C 57689 broad.mit.edu 37 11 40136889 40136889 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr11:40136889G>T uc001mxa.1 - 2 2918 c.954C>A c.(952-954)GAC>GAA p.D318E LRRC4C_uc001mxc.1_Missense_Mutation_p.D314E|LRRC4C_uc001mxd.1_Missense_Mutation_p.D314E|LRRC4C_uc001mxb.1_Missense_Mutation_p.D314E NM_020929 NP_065980 Q9HCJ2 LRC4C_HUMAN netrin-G1 ligand precursor 318 LRRCT. 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) AGGGGGCCATGTCTTTTATCC 0.488 NA 16 33 0.000308642 0.000372422 0.003163 1 0 OR4X2 119764 broad.mit.edu 37 11 48267425 48267425 + Missense_Mutation SNP T T C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr11:48267425T>C uc001ngs.1 + 1 770 c.770T>C c.(769-771)CTG>CCG p.L257P NM_001004727 NP_001004727 Q8NGF9 OR4X2_HUMAN olfactory receptor, family 4, subfamily X, 257 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TCTACCACTCTGCCCATAGAC 0.522 NA 8 37 0 0 0.004482 0 0 OR4C3 256144 broad.mit.edu 37 11 48347249 48347249 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr11:48347249C>A uc010rhv.1 + 1 757 c.757C>A c.(757-759)CAC>AAC p.H253N NM_001004702 NP_001004702 Q8NH37 OR4C3_HUMAN olfactory receptor, family 4, subfamily C, 226 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 CTTGAGGTCCCACAGTGCAGA 0.498 NA 9 97 0.00448238 0.00518058 0.004482 1 0 FOLH1 2346 broad.mit.edu 37 11 49208318 49208318 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr11:49208318C>A uc001ngy.2 - 5 778 c.517G>T c.(517-519)GAT>TAT p.D173Y FOLH1_uc001ngz.2_Missense_Mutation_p.D173Y|FOLH1_uc009yly.2_Missense_Mutation_p.D158Y|FOLH1_uc009ylz.2_Missense_Mutation_p.D158Y|FOLH1_uc009yma.2_5'UTR NM_004476 NP_004467 Q04609 FOLH1_HUMAN folate hydrolase 1 isoform 1 173 Extracellular (Probable). proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity large_intestine(1)|ovary(1)|skin(1) 3 Capromab(DB00089)|L-Glutamic Acid(DB00142) TACACTAGATCGCCCTGTTGA 0.393 NA 16 71 4.7546e-09 7.32274e-09 0.004007 1 0 OR4A16 81327 broad.mit.edu 37 11 55111564 55111564 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr11:55111564G>T uc010rie.1 + 1 888 c.888G>T c.(886-888)ATG>ATT p.M296I NM_001005274 NP_001005274 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, 296 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(2)|pancreas(1) 3 AAAATGCTATGAAAAATCTCT 0.313 NA 16 42 8.60227e-14 1.51018e-13 0.004007 1 0 OR4A15 81328 broad.mit.edu 37 11 55135452 55135452 + Missense_Mutation SNP G G T rs149233751 TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr11:55135452G>T uc010rif.1 + 1 93 c.93G>T c.(91-93)ATG>ATT p.M31I NM_001005275 NP_001005275 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, 31 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.M31I(1) ovary(1)|skin(1) 2 AAGAACACATGAAAAATAAGA 0.388 NA 8 35 0.00307968 0.00357786 0.00308 1 0 OR5D13 390142 broad.mit.edu 37 11 55541121 55541121 + Missense_Mutation SNP T T A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr11:55541121T>A uc010ril.1 + 1 208 c.208T>A c.(208-210)TTG>ATG p.L70M NM_001001967 NP_001001967 Q8NGL4 OR5DD_HUMAN olfactory receptor, family 5, subfamily D, 70 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 all_epithelial(135;0.196) TCACTTGTCCTTGACAGACTT 0.398 NA 18 88 0 0 0.007413 0 0 OR5L1 219437 broad.mit.edu 37 11 55579578 55579578 + Missense_Mutation SNP G G C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr11:55579578G>C uc001nhw.1 + 1 636 c.636G>C c.(634-636)ATG>ATC p.M212I NM_001004738 NP_001004738 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, 212 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3)|ovary(2) 5 all_epithelial(135;0.208) TTACCATCATGATCATCCTCA 0.502 NA 30 108 0 0 0.007291 0 0 OR8K1 390157 broad.mit.edu 37 11 56114262 56114262 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr11:56114262C>A uc010rjg.1 + 1 748 c.748C>A c.(748-750)CAT>AAT p.H250N NM_001002907 NP_001002907 Q8NGG5 OR8K1_HUMAN olfactory receptor, family 8, subfamily K, 250 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1) 2 Esophageal squamous(21;0.00448) CTGTAGCTCTCATCTGACAGT 0.408 NA HNSCC(65;0.19) 16 48 6.31663e-08 9.24099e-08 0.003163 1 0 OR5M3 219482 broad.mit.edu 37 11 56237537 56237537 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr11:56237537G>T uc010rjk.1 - 1 437 c.437C>A c.(436-438)CCT>CAT p.P146H NM_001004742 NP_001004742 Q8NGP4 OR5M3_HUMAN olfactory receptor, family 5, subfamily M, 146 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) ATAAATGTAAGGGAAAGTAAT 0.413 NA 26 91 3.08376e-08 4.57624e-08 0.00333 1 0 OR9G9 504191 broad.mit.edu 37 11 56468604 56468604 + Silent SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr11:56468604C>G uc010rjn.1 + 1 741 c.741C>G c.(739-741)GTC>GTG p.V247V NM_001013358 NP_001013376 P0C7N8 OR9G9_HUMAN olfactory receptor, family 9, subfamily G, 247 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TGACCTCTGTCACTTTATACT 0.453 NA 21 271 0 0 0.001523 0 0 CTNND1 1500 broad.mit.edu 37 11 57569438 57569438 + Missense_Mutation SNP A A G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr11:57569438A>G uc001nmc.3 + 7 1761 c.1190A>G c.(1189-1191)AAT>AGT p.N397S CTNND1_uc001nlh.1_Missense_Mutation_p.N397S|CTNND1_uc001nlu.3_Missense_Mutation_p.N296S|CTNND1_uc001nlt.3_Missense_Mutation_p.N296S|CTNND1_uc001nls.3_Missense_Mutation_p.N296S|CTNND1_uc001nlw.3_Missense_Mutation_p.N296S|CTNND1_uc001nmf.3_Missense_Mutation_p.N397S|CTNND1_uc001nmd.3_Missense_Mutation_p.N343S|CTNND1_uc001nlk.3_Missense_Mutation_p.N343S|CTNND1_uc001nme.3_Missense_Mutation_p.N397S|CTNND1_uc001nll.3_Missense_Mutation_p.N343S|CTNND1_uc001nmg.3_Missense_Mutation_p.N343S|CTNND1_uc001nlj.3_Missense_Mutation_p.N343S|CTNND1_uc001nlr.3_Missense_Mutation_p.N343S|CTNND1_uc001nlp.3_Missense_Mutation_p.N343S|CTNND1_uc001nlx.3_Missense_Mutation_p.N74S|CTNND1_uc001nlz.3_Missense_Mutation_p.N74S|CTNND1_uc009ymn.2_Missense_Mutation_p.N74S|CTNND1_uc001nlm.3_Missense_Mutation_p.N397S|CTNND1_uc001nly.3_Missense_Mutation_p.N74S|CTNND1_uc001nmb.3_Missense_Mutation_p.N74S|CTNND1_uc001nma.3_Missense_Mutation_p.N74S|CTNND1_uc001nmi.3_Missense_Mutation_p.N296S|CTNND1_uc001nmh.3_Missense_Mutation_p.N397S|CTNND1_uc001nlq.3_Missense_Mutation_p.N296S|CTNND1_uc001nln.3_Missense_Mutation_p.N397S|CTNND1_uc001nli.3_Missense_Mutation_p.N397S|CTNND1_uc001nlo.3_Missense_Mutation_p.N296S|CTNND1_uc001nlv.3_Missense_Mutation_p.N296S NM_001085458 NP_001078927 O60716 CTND1_HUMAN catenin, delta 1 isoform 1ABC 397 adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway cytosol|midbody|nucleus cadherin binding|protein binding|receptor binding breast(4)|ovary(1)|kidney(1) 6 all_epithelial(135;0.155) TGCTACCGCAATGACAAGGTG 0.532 NA 4 78 0 0 0.000248 0 0 OR5B12 390191 broad.mit.edu 37 11 58206793 58206793 + Missense_Mutation SNP T T C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr11:58206793T>C uc010rkh.1 - 1 832 c.832A>G c.(832-834)ATA>GTA p.I278V NM_001004733 NP_001004733 Q96R08 OR5BC_HUMAN olfactory receptor, family 5, subfamily B, 278 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Esophageal squamous(5;0.0027) Breast(21;0.0778) GGAATGACTATGGCATAGAAC 0.438 NA 10 31 0 0 0.006214 0 0 OR4D6 219983 broad.mit.edu 37 11 59225153 59225153 + Nonsense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr11:59225153C>A uc010rku.1 + 1 720 c.720C>A c.(718-720)TGC>TGA p.C240* NM_001004708 NP_001004708 Q8NGJ1 OR4D6_HUMAN olfactory receptor, family 4, subfamily D, 240 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 TCTCCACGTGCACGTCCCACA 0.572 NA 17 66 5.3912e-06 7.26217e-06 0.006122 1 0 FADS2 9415 broad.mit.edu 37 11 61608140 61608140 + Silent SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr11:61608140C>G uc001nsl.1 + 4 711 c.561C>G c.(559-561)GTC>GTG p.V187V FADS2_uc001nsj.2_Silent_p.V165V|FADS2_uc010rlo.1_Silent_p.V156V|FADS2_uc001nsk.2_Silent_p.V187V NM_004265 NP_004256 O95864 FADS2_HUMAN fatty acid desaturase 2 187 Cytoplasmic (Potential). electron transport chain|transport|unsaturated fatty acid biosynthetic process endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction heme binding ovary(1)|pancreas(1) 2 Alpha-Linolenic Acid(DB00132) ACCTGTCTGTCTACAGAAAAC 0.547 NA 4 116 0 0 0.001168 0 0 AHNAK 79026 broad.mit.edu 37 11 62293116 62293116 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr11:62293116C>A uc001ntl.2 - 5 9073 c.8773G>T c.(8773-8775)GTC>TTC p.V2925F AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 2925 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) GGGCCTGAGACATCAACGTCA 0.507 NA 79 242 3.54697e-40 7.16328e-40 0.00361 1 0 TUT1 64852 broad.mit.edu 37 11 62356644 62356644 + Silent SNP T T C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr11:62356644T>C uc001nto.2 - 2 284 c.246A>G c.(244-246)GTA>GTG p.V82V NM_022830 NP_073741 Q9H6E5 STPAP_HUMAN terminal uridylyl transferase 1, U6 44 mRNA cleavage|mRNA polyadenylation|snRNA processing nuclear speck|nucleolus ATP binding|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|RNA uridylyltransferase activity|zinc ion binding central_nervous_system(1)|skin(1) 2 CTCGTAGTTCTACCAGGTGCC 0.532 NA 4 25 0 0 0.001168 0 0 MARK2 2011 broad.mit.edu 37 11 63671564 63671564 + Missense_Mutation SNP A A T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr11:63671564A>T uc001nxw.2 + 15 2200 c.1621A>T c.(1621-1623)AAC>TAC p.N541Y MARK2_uc001nxx.2_Intron|MARK2_uc001nxy.2_Intron|MARK2_uc001nxv.3_Intron|MARK2_uc001nxz.3_Missense_Mutation_p.N507Y|MARK2_uc009yoy.2_Intron NM_001039469 NP_001034558 Q7KZI7 MARK2_HUMAN MAP/microtubule affinity-regulating kinase 2 541 cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress plasma membrane ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity stomach(1)|ovary(1)|lung(1) 3 CGTGCACCCCAACAAGGCCTC 0.697 NA 4 15 0 0 0.000248 0 0 PYGM 5837 broad.mit.edu 37 11 64521742 64521742 + Silent SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr11:64521742G>T uc001oax.3 - 9 1892 c.1075C>A c.(1075-1077)CGG>AGG p.R359R PYGM_uc001oay.3_Silent_p.R271R NM_005609 NP_005600 P11217 PYGM_HUMAN muscle glycogen phosphorylase isoform 1 359 glucose metabolic process|glycogen catabolic process cytosol glycogen phosphorylase activity|protein binding ovary(2) 2 Pyridoxal Phosphate(DB00114) CAGTCCATCCGTTCCAGGTCC 0.632 NA 16 65 2.23348e-06 3.05455e-06 0.004007 1 0 SF3B2 10992 broad.mit.edu 37 11 65824815 65824815 + Missense_Mutation SNP C C T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr11:65824815C>T uc001ogy.1 + 7 786 c.746C>T c.(745-747)CCC>CTC p.P249L NM_006842 NP_006833 Q13435 SF3B2_HUMAN splicing factor 3B subunit 2 249 Poly-Pro. interspecies interaction between organisms catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex nucleic acid binding|protein binding ovary(2)|breast(1) 3 CCTCGTGGTCCCCCACCGCCC 0.527 NA 8 139 0 0 0.00308 0 0 CTSF 8722 broad.mit.edu 37 11 66335045 66335045 + Missense_Mutation SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr11:66335045G>A uc001oip.2 - 3 491 c.401C>T c.(400-402)GCT>GTT p.A134V NM_003793 NP_003784 Q9UBX1 CATF_HUMAN cathepsin F precursor 134 proteolysis lysosome cysteine-type endopeptidase activity 0 GGGCTCCCCAGCACCTGGAAC 0.557 NA 21 89 0 0 0.002299 0 0 SAPS3 55291 broad.mit.edu 37 11 68370837 68370837 + Missense_Mutation SNP G G C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr11:68370837G>C uc001onw.2 + 22 2594 c.2327G>C c.(2326-2328)AGC>ACC p.S776T SAPS3_uc001onv.2_Missense_Mutation_p.S776T|SAPS3_uc001ony.3_Missense_Mutation_p.S747T|SAPS3_uc001onx.2_Missense_Mutation_p.S770T|SAPS3_uc009ysh.2_Missense_Mutation_p.S696T|SAPS3_uc001onu.2_Missense_Mutation_p.S696T|SAPS3_uc010rqc.1_Missense_Mutation_p.S544T|SAPS3_uc010rqd.1_Missense_Mutation_p.S459T|SAPS3_uc001onz.2_Missense_Mutation_p.S104T|SAPS3_uc001ooa.2_Missense_Mutation_p.S226T NM_001164161 NP_001157633 Q5H9R7 PP6R3_HUMAN SAPS domain family, member 3 isoform 6 776 regulation of phosphoprotein phosphatase activity cytoplasm|nucleus protein phosphatase binding 0 LUAD - Lung adenocarcinoma(13;0.102) ATGGAAGCCAGCTCTGACGGA 0.537 NA 19 76 0 0 0.007413 0 0 MRGPRD 116512 broad.mit.edu 37 11 68748265 68748265 + Missense_Mutation SNP T T C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr11:68748265T>C uc010rqf.1 - 1 191 c.191A>G c.(190-192)TAT>TGT p.Y64C NM_198923 NP_944605 Q8TDS7 MRGRD_HUMAN MAS-related GPR, member D 64 Helical; Name=2; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity pancreas(1) 1 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) GTTGAGGATATAGATGCAGAA 0.587 NA 9 40 0 0 0.008291 0 0 CTTN 2017 broad.mit.edu 37 11 70253623 70253623 + Splice_Site SNP G G C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr11:70253623G>C uc001opv.3 + 4 294 c.88_splice c.e4-1 p.N30_splice CTTN_uc001opu.2_Splice_Site_p.N30_splice|CTTN_uc001opw.3_Splice_Site_p.N30_splice NM_005231 NP_005222 Q14247 SRC8_HUMAN cortactin isoform a cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513) Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133) TTTCTTTTCAGAATGATGTGA 0.527 NA 20 89 0 0 0.001523 0 0 NADSYN1 55191 broad.mit.edu 37 11 71164426 71164426 + Silent SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr11:71164426G>A uc001oqn.2 + 1 210 c.84G>A c.(82-84)AAG>AAA p.K28K NADSYN1_uc001oqm.2_RNA|NADSYN1_uc001oqo.2_5'Flank NM_018161 NP_060631 Q6IA69 NADE_HUMAN NAD synthetase 1 28 CN hydrolase. NAD biosynthetic process|water-soluble vitamin metabolic process cytosol ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding ovary(2) 2 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) GAATTTTAAAGAGTGAGTCTG 0.662 Ovarian(79;763 1781 6490 50276) NA 3 10 0 0 0.004672 0 0 C2CD3 26005 broad.mit.edu 37 11 73796749 73796749 + Missense_Mutation SNP T T C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr11:73796749T>C uc001ouu.2 - 21 4051 c.3824A>G c.(3823-3825)CAC>CGC p.H1275R C2CD3_uc001out.2_RNA NM_015531 NP_056346 Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 1275 C2 1. centrosome ovary(4)|pancreas(2)|skin(1) 7 Breast(11;4.16e-06) TCCACTACAGTGCTGAGTCAC 0.498 NA 11 38 0 0 0.000978 0 0 CCDC83 220047 broad.mit.edu 37 11 85630410 85630410 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr11:85630410C>A uc001pbh.1 + 11 1611 c.1099C>A c.(1099-1101)CCC>ACC p.P367T CCDC83_uc001pbg.1_Missense_Mutation_p.P398T|CCDC83_uc001pbi.1_RNA|CCDC83_uc001pbj.1_Missense_Mutation_p.P267T NM_173556 NP_775827 Q8IWF9 CCD83_HUMAN coiled-coil domain containing 83 367 skin(1) 1 Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572) AAACTTGGGCCCCCTGGGAGT 0.408 NA 25 58 8.58068e-18 1.60723e-17 0.007291 1 0 GRM5 2915 broad.mit.edu 37 11 88780897 88780897 + Silent SNP A A C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr11:88780897A>C uc001pcq.2 - 1 344 c.144T>G c.(142-144)ACT>ACG p.T48T GRM5_uc009yvm.2_Silent_p.T48T|GRM5_uc009yvn.1_Silent_p.T48T NM_001143831 NP_001137303 P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 isoform a 48 Extracellular (Potential). activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity central_nervous_system(4)|ovary(2)|lung(2)|breast(1) 9 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) CTTTGTCCACAGTAGGCTGGT 0.527 NA 15 39 0 0 0.006122 0 0 FOLH1B 219595 broad.mit.edu 37 11 89409322 89409322 + Missense_Mutation SNP A A T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr11:89409322A>T uc001pda.2 + 7 960 c.434A>T c.(433-435)GAC>GTC p.D145V NM_153696 NP_710163 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B 145 Zinc 2 (By similarity). proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity ovary(3)|skin(2)|central_nervous_system(1) 6 ATTAATGCTGACTCATCTATA 0.373 NA 15 62 0 0 0.00499 0 0 Unknown 0 broad.mit.edu 37 11 89774425 89774425 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr11:89774425G>T uc010rua.1 + 7 1189 c.1066G>T c.(1066-1068)GGT>TGT p.G356C NM_020358 NP_065091 ring finger protein 18 NA TTGGGCTTTTGGTGTCTGTAA 0.433 NA 18 34 2.48551e-13 4.31828e-13 0.00499 1 0 FAT3 120114 broad.mit.edu 37 11 92087375 92087375 + Silent SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr11:92087375G>A uc001pdj.3 + 1 2114 c.2097G>A c.(2095-2097)AAG>AAA p.K699K NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 699 Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TACTCATTAAGGCAAAAGCAA 0.383 NA TCGA Ovarian(4;0.039) 41 104 0 0 0.005524 0 0 FAT3 120114 broad.mit.edu 37 11 92498135 92498135 + Missense_Mutation SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr11:92498135C>G uc001pdj.3 + 5 4092 c.4075C>G c.(4075-4077)CCA>GCA p.P1359A NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 1359 Cadherin 12.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TTCACCTATACCATTGACCTT 0.498 NA TCGA Ovarian(4;0.039) 11 51 0 0 0.000978 0 0 FAT3 120114 broad.mit.edu 37 11 92613961 92613961 + Missense_Mutation SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr11:92613961C>G uc001pdj.3 + 22 12209 c.12192C>G c.(12190-12192)TGC>TGG p.C4064W FAT3_uc001pdi.3_Missense_Mutation_p.C504W NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 4064 EGF-like 3.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TTACAGCCTGCTTCCCAAACC 0.502 NA TCGA Ovarian(4;0.039) 54 164 0 0 0.00361 0 0 MRE11A 4361 broad.mit.edu 37 11 94212876 94212876 + Silent SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr11:94212876C>A uc001peu.2 - 5 555 c.366G>T c.(364-366)GTG>GTT p.V122V MRE11A_uc001pev.2_Silent_p.V122V|MRE11A_uc009ywj.2_Silent_p.V125V NM_005591 NP_005582 P49959 MRE11_HUMAN meiotic recombination 11 homolog A isoform 1 122 DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase Mre11 complex|nucleoplasm 3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity breast(4)|lung(1) 5 Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824) GAATACTAAACACTGGAATTG 0.348 NA Homologous_recombination Ataxia-Telangiectasia-Like_Disorder 15 44 2.94398e-08 4.37364e-08 0.007413 1 0 MMP20 9313 broad.mit.edu 37 11 102448108 102448108 + Missense_Mutation SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr11:102448108C>G uc001phc.2 - 10 1414 c.1401G>C c.(1399-1401)GAG>GAC p.E467D NM_004771 NP_004762 O60882 MMP20_HUMAN matrix metalloproteinase 20 preproprotein 467 Hemopexin-like 4. proteolysis|regulation of enamel mineralization extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding urinary_tract(1)|skin(1) 2 all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033) Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13) BRCA - Breast invasive adenocarcinoma(274;0.0161) CATCTTCCTTCTCTGTGTCAT 0.388 NA 4 54 0 0 0.000248 0 0 CASP5 838 broad.mit.edu 37 11 104874094 104874094 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr11:104874094C>A uc010rva.1 - 4 482 c.450G>T c.(448-450)GAG>GAT p.E150D CASP5_uc010ruz.1_Missense_Mutation_p.E163D|CASP5_uc010rvb.1_Missense_Mutation_p.E92D|CASP5_uc010rvc.1_Missense_Mutation_p.E8D|CASP5_uc009yxh.2_Intron|CASP5_uc010rvd.1_Intron NM_004347 NP_004338 P51878 CASP5_HUMAN caspase 5 isoform a precursor 150 apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis intracellular cysteine-type endopeptidase activity|protein binding ovary(2)|lung(1) 3 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042) GTGGTCCAGCCTCGATTTGCA 0.403 NA 25 104 2.12542e-12 3.595e-12 0.00632 1 0 PPP2R1B 5519 broad.mit.edu 37 11 111623033 111623033 + Missense_Mutation SNP G G C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr11:111623033G>C uc001plx.1 - 10 1272 c.1188C>G c.(1186-1188)ATC>ATG p.I396M PPP2R1B_uc001plw.1_Missense_Mutation_p.I396M|PPP2R1B_uc010rwi.1_Missense_Mutation_p.I332M|PPP2R1B_uc010rwj.1_Missense_Mutation_p.I235M|PPP2R1B_uc010rwk.1_Missense_Mutation_p.I351M|PPP2R1B_uc010rwl.1_Missense_Mutation_p.I269M NM_002716 NP_002707 P30154 2AAB_HUMAN beta isoform of regulatory subunit A, protein 396 HEAT 10. protein binding 0 all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761) AATTGGAGATGATATTCAAAC 0.448 NA 3 71 0 0 0.000248 0 0 HSPB2 3316 broad.mit.edu 37 11 111784584 111784584 + Missense_Mutation SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr11:111784584G>A uc001pmg.2 + 2 608 c.514G>A c.(514-516)GAG>AAG p.E172K CRYAB_uc001pmf.1_5'Flank|CRYAB_uc010rwp.1_5'Flank|HSPB2_uc009yyj.2_RNA|C11orf52_uc001pmh.2_Intron NM_001541 NP_001532 Q16082 HSPB2_HUMAN heat shock 27kDa protein 2 172 response to heat|response to unfolded protein cytosol|nucleus enzyme activator activity|protein binding ovary(2)|skin(1) 3 all_cancers(61;3.75e-11)|all_epithelial(67;2.33e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663) Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051) TCCTGATCCAGAGGAAGAGGA 0.572 NA 6 28 0 0 0.001984 0 0 HTR3B 9177 broad.mit.edu 37 11 113813800 113813800 + Missense_Mutation SNP C C T rs138362802 byFrequency TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr11:113813800C>T uc001pok.2 + 7 860 c.793C>T c.(793-795)CCC>TCC p.P265S HTR3B_uc001pol.2_Missense_Mutation_p.P254S NM_006028 NP_006019 O95264 5HT3B_HUMAN 5-hydroxytryptamine (serotonin) receptor 3B 265 Cytoplasmic (Potential). synaptic transmission integral to plasma membrane|postsynaptic membrane serotonin receptor activity|serotonin-activated cation-selective channel activity 0 all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151) CTACCTGCCACCCAACTGCCG 0.582 NA 10 39 0 0 0.008291 0 0 C11orf71 54494 broad.mit.edu 37 11 114270819 114270819 + Missense_Mutation SNP C C A rs1051890 TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr11:114270819C>A uc001pou.3 - 1 437 c.235G>T c.(235-237)GAT>TAT p.D79Y C11orf71_uc001pot.1_Missense_Mutation_p.D79Y|RBM7_uc001pov.2_5'Flank|RBM7_uc001pow.2_5'Flank|RBM7_uc001pox.2_5'Flank NM_019021 NP_061894 Q6IPW1 CK071_HUMAN hypothetical protein LOC54494 79 0 all_cancers(61;1.15e-11)|all_epithelial(67;5.3e-06)|all_hematologic(158;0.000303)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104) BRCA - Breast invasive adenocarcinoma(274;2.6e-06)|Epithelial(105;4.31e-05)|all cancers(92;0.00036) CCCCGGCCATCTGGTTCCCTT 0.627 NA 15 48 3.27435e-08 4.84835e-08 0.00245 1 0 FAM55B 120406 broad.mit.edu 37 11 114569052 114569052 + Nonsense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr11:114569052G>T uc009yyy.2 + 3 516 c.418G>T c.(418-420)GGA>TGA p.G140* NM_182495 NP_872301 Q96DL1 FA55B_HUMAN hypothetical protein LOC120406 140 integral to membrane ovary(1) 1 GGACCACTTGGGACACAGGAA 0.552 NA 8 22 0.000157383 0.000191976 0.00308 1 0 APOA1 335 broad.mit.edu 37 11 116706556 116706556 + Missense_Mutation SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr11:116706556C>G uc001ppu.1 - 4 851 c.772G>C c.(772-774)GAG>CAG p.E258Q APOA1_uc001ppv.1_Missense_Mutation_p.E258Q NM_000039 NP_000030 P02647 APOA1_HUMAN apolipoprotein A-I preproprotein 258 10.|10 X approximate tandem repeats. Cdc42 protein signal transduction|cholesterol efflux|cholesterol homeostasis|cholesterol import|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|negative regulation of cytokine secretion involved in immune response|negative regulation of interleukin-1 beta secretion|negative regulation of very-low-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|phospholipid efflux|platelet activation|platelet degranulation|positive regulation of cholesterol esterification|positive regulation of hydrolase activity|protein stabilization|reverse cholesterol transport endocytic vesicle|endoplasmic reticulum lumen|plasma membrane|spherical high-density lipoprotein particle|stored secretory granule|very-low-density lipoprotein particle apolipoprotein A-I receptor binding|beta-amyloid binding|cholesterol binding|cholesterol transporter activity|enzyme binding|high-density lipoprotein particle receptor binding|identical protein binding|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding 0 all_hematologic(175;0.0487) Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.59e-05)|all cancers(92;0.000162)|OV - Ovarian serous cystadenocarcinoma(223;0.148) GTGTACTCCTCGAGAGCGCTC 0.622 NA 15 93 0 0 0.003163 0 0 CEP164 22897 broad.mit.edu 37 11 117234214 117234214 + Missense_Mutation SNP G G C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr11:117234214G>C uc001prc.2 + 8 904 c.757G>C c.(757-759)GAG>CAG p.E253Q CEP164_uc001prb.2_Missense_Mutation_p.E253Q|CEP164_uc010rxk.1_Intron|CEP164_uc001prf.2_Intron|CEP164_uc009yzp.1_5'Flank NM_014956 NP_055771 Q9UPV0 CE164_HUMAN centrosomal protein 164kDa 253 cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis centriole|cytosol|nucleus ovary(1)|central_nervous_system(1) 2 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008) GGGTGACTTTGAGTATGAGGT 0.458 NA 5 46 0 0 0.000602 0 0 CEP164 22897 broad.mit.edu 37 11 117265697 117265697 + Missense_Mutation SNP G G C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr11:117265697G>C uc001prc.2 + 22 2969 c.2822G>C c.(2821-2823)AGA>ACA p.R941T CEP164_uc001prb.2_Missense_Mutation_p.R944T|CEP164_uc010rxk.1_Missense_Mutation_p.R915T|CEP164_uc001prf.2_Intron|CEP164_uc009yzp.1_RNA|CEP164_uc001prg.1_Missense_Mutation_p.R374T NM_014956 NP_055771 Q9UPV0 CE164_HUMAN centrosomal protein 164kDa 941 Glu-rich. cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis centriole|cytosol|nucleus ovary(1)|central_nervous_system(1) 2 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008) GTCAAGGCCAGATTGGCTCTG 0.522 NA 29 99 0 0 0.008361 0 0 VPS11 55823 broad.mit.edu 37 11 118952213 118952213 + Silent SNP T T C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr11:118952213T>C uc010ryx.1 + 17 2748 c.2706T>C c.(2704-2706)TTT>TTC p.F902F VPS11_uc010ryy.1_Silent_p.F748F NM_021729 NP_068375 Q9H270 VPS11_HUMAN vacuolar protein sorting 11 902 protein transport endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane nucleotide binding|protein binding|zinc ion binding ovary(2)|central_nervous_system(1) 3 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.88e-05) CTGACTACTTTGGCAGAGGTG 0.507 NA 39 125 0 0 0.002522 0 0 PVRL1 5818 broad.mit.edu 37 11 119548513 119548513 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr11:119548513C>A uc001pwv.2 - 3 657 c.485G>T c.(484-486)GGG>GTG p.G162V PVRL1_uc001pwu.1_Missense_Mutation_p.G162V|PVRL1_uc001pww.2_Missense_Mutation_p.G162V NM_002855 NP_002846 Q15223 PVRL1_HUMAN poliovirus receptor-related 1 isoform 1 162 Extracellular (Potential).|Ig-like C2-type 1. adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response cell-cell adherens junction|extracellular region|integral to membrane cell adhesion molecule binding|coreceptor activity|protein homodimerization activity 0 Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.29e-05) GTCATCCTGCCCCTTCTTGGC 0.562 NA 7 25 1.12685e-05 1.48953e-05 0.004482 1 0 OR10G8 219869 broad.mit.edu 37 11 123900548 123900548 + Silent SNP T T G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr11:123900548T>G uc001pzp.1 + 1 219 c.219T>G c.(217-219)ACT>ACG p.T73T NM_001004464 NP_001004464 Q8NGN5 O10G8_HUMAN olfactory receptor, family 10, subfamily G, 73 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) GGTTCTCCACTGTCACGGTGC 0.512 NA 31 112 0 0 0.001786 0 0 OR8B12 219858 broad.mit.edu 37 11 124413387 124413387 + Missense_Mutation SNP T T A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr11:124413387T>A uc010sam.1 - 1 164 c.164A>T c.(163-165)CAC>CTC p.H55L NM_001005195 NP_001005195 Q8NGG6 OR8BC_HUMAN olfactory receptor, family 8, subfamily B, 55 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1)|skin(1) 3 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213) CATGGGAGTGTGCAGGTGAGA 0.478 NA 20 75 0 0 0.001882 0 0 OR8A1 390275 broad.mit.edu 37 11 124440912 124440912 + Silent SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr11:124440912C>A uc010san.1 + 1 948 c.948C>A c.(946-948)GCC>GCA p.A316A NM_001005194 NP_001005194 Q8NGG7 OR8A1_HUMAN olfactory receptor, family 8, subfamily A, 316 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214) TAAAGGCTGCCGTGCAGAAAA 0.438 NA 31 56 7.11191e-15 1.27012e-14 0.002836 1 0 PATE1 160065 broad.mit.edu 37 11 125618581 125618581 + Missense_Mutation SNP A A T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr11:125618581A>T uc001qct.2 + 5 346 c.334A>T c.(334-336)AAC>TAC p.N112Y PATE1_uc009zbr.2_Missense_Mutation_p.N100Y NM_138294 NP_612151 Q8WXA2 PATE1_HUMAN expressed in prostate and testis precursor 112 extracellular region 0 CTATTTGGTGAACTTCAGGTG 0.488 NA 22 77 0 0 0.00333 0 0 KCNJ1 3758 broad.mit.edu 37 11 128709201 128709201 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr11:128709201G>T uc001qeo.1 - 2 1046 c.995C>A c.(994-996)ACA>AAA p.T332K KCNJ1_uc001qep.1_Missense_Mutation_p.T313K|KCNJ1_uc001qeq.1_Missense_Mutation_p.T313K|KCNJ1_uc001qer.1_Missense_Mutation_p.T313K|KCNJ1_uc001qes.1_Missense_Mutation_p.T313K NM_000220 NP_000211 P48048 IRK1_HUMAN potassium inwardly-rectifying channel J1 isoform 332 Cytoplasmic (By similarity). excretion voltage-gated potassium channel complex ATP binding|inward rectifier potassium channel activity ovary(3)|breast(1) 4 all_hematologic(175;0.0641) all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425) OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942) Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124) CCCTTCCTTTGTCTTGGATAC 0.498 NA 20 32 1.56452e-12 2.64963e-12 0.007413 1 0 KCNJ5 3762 broad.mit.edu 37 11 128781254 128781254 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr11:128781254C>A uc001qet.2 + 2 400 c.86C>A c.(85-87)GCC>GAC p.A29D KCNJ5_uc009zck.2_Missense_Mutation_p.A29D|KCNJ5_uc001qew.2_Missense_Mutation_p.A29D NM_000890 NP_000881 P48544 IRK5_HUMAN potassium inwardly-rectifying channel J5 29 Cytoplasmic (By similarity). synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding skin(1) 1 all_hematologic(175;0.0641) Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215) Glibenclamide(DB01016) CCAAAACAGGCCCGCGATTAT 0.572 Pancreas(108;2548 5082)|Esophageal Squamous(165;4544 6231) NA 14 63 4.3838e-07 6.19079e-07 0.001855 1 0 KCNJ5 3762 broad.mit.edu 37 11 128786491 128786491 + Silent SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr11:128786491G>A uc001qet.2 + 3 1439 c.1125G>A c.(1123-1125)CGG>CGA p.R375R KCNJ5_uc009zck.2_Silent_p.R375R|KCNJ5_uc001qew.2_Silent_p.R375R NM_000890 NP_000881 P48544 IRK5_HUMAN potassium inwardly-rectifying channel J5 375 Cytoplasmic (By similarity). synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding skin(1) 1 all_hematologic(175;0.0641) Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215) Glibenclamide(DB01016) GGGAAGGCCGGCTCCTCCAGT 0.592 Pancreas(108;2548 5082)|Esophageal Squamous(165;4544 6231) NA 11 64 0 0 0.001368 0 0 ST14 6768 broad.mit.edu 37 11 130069888 130069888 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr11:130069888G>T uc001qfw.2 + 16 2043 c.1850G>T c.(1849-1851)GGG>GTG p.G617V NM_021978 NP_068813 Q9Y5Y6 ST14_HUMAN matriptase 617 Extracellular (Potential).|Peptidase S1. proteolysis integral to plasma membrane serine-type endopeptidase activity ovary(2)|skin(2)|central_nervous_system(1) 5 all_hematologic(175;0.0429) Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228) Urokinase(DB00013) CGTGTTGTTGGGGGCACGGAT 0.612 NA 11 50 1.08611e-07 1.56675e-07 0.000978 1 0 FBXL14 144699 broad.mit.edu 37 12 1702803 1702803 + Missense_Mutation SNP C C T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr12:1702803C>T uc001qjh.2 - 1 529 c.430G>A c.(430-432)GGC>AGC p.G144S WNT5B_uc009zdq.2_Intron|FBXL14_uc001qji.2_Missense_Mutation_p.G56S NM_152441 NP_689654 Q8N1E6 FXL14_HUMAN F-box and leucine-rich repeat protein 14 144 LRR 1. cytoplasm ovary(1) 1 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00115) ACCTCCAGGCCCTTGAGGTAC 0.622 NA 4 67 0 0 0.000248 0 0 CACNA1C 775 broad.mit.edu 37 12 2742805 2742805 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr12:2742805G>T uc009zdu.1 + 31 4212 c.3899G>T c.(3898-3900)AGT>ATT p.S1300I CACNA1C_uc009zdv.1_Missense_Mutation_p.S1277I|CACNA1C_uc001qkb.2_Intron|CACNA1C_uc001qkc.2_Intron|CACNA1C_uc001qke.2_Intron|CACNA1C_uc001qkf.2_Intron|CACNA1C_uc001qjz.2_Intron|CACNA1C_uc001qkd.2_Intron|CACNA1C_uc001qkg.2_Intron|CACNA1C_uc009zdw.1_Intron|CACNA1C_uc001qkh.2_Intron|CACNA1C_uc001qkl.2_Missense_Mutation_p.S1300I|CACNA1C_uc001qkn.2_Intron|CACNA1C_uc001qko.2_Intron|CACNA1C_uc001qkp.2_Missense_Mutation_p.S1280I|CACNA1C_uc001qkr.2_Missense_Mutation_p.S1280I|CACNA1C_uc001qku.2_Intron|CACNA1C_uc001qkq.2_Missense_Mutation_p.S1280I|CACNA1C_uc001qks.2_Missense_Mutation_p.S1280I|CACNA1C_uc001qkt.2_Missense_Mutation_p.S1280I|CACNA1C_uc001qki.1_Missense_Mutation_p.S1016I|CACNA1C_uc001qkj.1_Missense_Mutation_p.S1016I|CACNA1C_uc001qkk.1_Missense_Mutation_p.S1016I|CACNA1C_uc001qkm.1_Intron NM_199460 NP_955630 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, 1300 Cytoplasmic (Potential).|IV. axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity ovary(10)|central_nervous_system(1) 11 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) GGTTACTTTAGTGATCCCTGG 0.443 NA 16 100 1.5739e-10 2.54668e-10 0.004007 1 0 NRIP2 83714 broad.mit.edu 37 12 2936794 2936794 + Silent SNP G G C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr12:2936794G>C uc001qlc.2 - 5 822 c.750C>G c.(748-750)CTC>CTG p.L250L ITFG2_uc010sec.1_Intron|NRIP2_uc010sed.1_Silent_p.L250L NM_031474 NP_113662 Q9BQI9 NRIP2_HUMAN nuclear receptor interacting protein 2 250 proteolysis|transcription, DNA-dependent cytoplasm|nucleus aspartic-type endopeptidase activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(31;0.000818) GCCTTACCTTGAGAGAAAGCA 0.507 NA 5 255 0 0 0.001984 0 0 PRMT8 56341 broad.mit.edu 37 12 3702309 3702309 + Silent SNP G G C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr12:3702309G>C uc001qmf.2 + 10 1513 c.1146G>C c.(1144-1146)CTG>CTC p.L382L PRMT8_uc009zed.2_Silent_p.L373L|PRMT8_uc001qmg.2_Silent_p.L196L|PRMT8_uc001qmh.2_RNA NM_019854 NP_062828 Q9NR22 ANM8_HUMAN HMT1 hnRNP methyltransferase-like 4 382 regulation of protein binding cytoplasm|plasma membrane histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity ovary(3)|central_nervous_system(1)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264) AGGGACAGCTGTGTGAAACAT 0.517 NA 7 28 0 0 0.001984 0 0 SCNN1A 6337 broad.mit.edu 37 12 6458494 6458494 + Missense_Mutation SNP T T A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr12:6458494T>A uc001qnx.2 - 9 1727 c.1438A>T c.(1438-1440)AGC>TGC p.S480C SCNN1A_uc001qnv.2_Missense_Mutation_p.S180C|SCNN1A_uc001qnw.2_Missense_Mutation_p.S539C|SCNN1A_uc010sfb.1_Missense_Mutation_p.S503C NM_001038 NP_001029 P37088 SCNNA_HUMAN sodium channel, nonvoltage-gated 1 alpha isoform 480 Extracellular (By similarity). excretion|response to stimulus|sensory perception of taste apical plasma membrane WW domain binding 0 Amiloride(DB00594)|Triamterene(DB00384) GACACTAACCTGCATGGCTTC 0.547 NA 6 13 0 0 0.001168 0 0 AICDA 57379 broad.mit.edu 37 12 8759494 8759494 + Silent SNP G G C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr12:8759494G>C uc001qur.2 - 2 202 c.123C>G c.(121-123)TCC>TCG p.S41S AICDA_uc001qup.1_Silent_p.S36S|AICDA_uc001quq.1_Silent_p.S36S|AICDA_uc009zgd.1_RNA NM_020661 NP_065712 Q9GZX7 AICDA_HUMAN activation-induced cytidine deaminase 41 B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing cytoplasm cytidine deaminase activity|protein binding|zinc ion binding ovary(1)|pancreas(1) 2 Lung SC(5;0.184) CCAGTGAAAAGGATGTAGCAC 0.463 GBM(62;896 1067 5527 26594 30137) NA Immune_Deficiency_with_Hyper-IgM 4 52 0 0 0.000248 0 0 PZP 5858 broad.mit.edu 37 12 9354948 9354948 + Silent SNP G G T rs143334338 TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr12:9354948G>T uc001qvl.2 - 4 476 c.447C>A c.(445-447)TCC>TCA p.S149S PZP_uc009zgl.2_Silent_p.S18S NM_002864 NP_002855 pregnancy-zone protein precursor ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1) 5 TTTCATCCACGGAGACAACAC 0.453 Melanoma(125;1402 1695 4685 34487 38571) NA 4 74 0.00116845 0.00137772 0.001168 1 0 TAS2R30 259293 broad.mit.edu 37 12 11286614 11286614 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr12:11286614C>A uc009zhs.1 - 1 230 c.230G>T c.(229-231)AGT>ATT p.S77I PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron NM_001097643 NP_001091112 type 2 taste receptor member 30 0 TACTTCTACACTATAAAAAGC 0.423 NA 14 170 1.5842e-08 2.38251e-08 0.001855 1 0 GRIN2B 2904 broad.mit.edu 37 12 13716789 13716789 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr12:13716789C>A uc001rbt.2 - 13 3562 c.3383G>T c.(3382-3384)GGG>GTG p.G1128V NM_000834 NP_000825 Q13224 NMDE2_HUMAN N-methyl-D-aspartate receptor subunit 2B 1128 Cytoplasmic (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding central_nervous_system(4)|ovary(3)|skin(3)|lung(2) 12 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GTCCCGTAGCCCTTCCTTGTC 0.607 NA 19 29 1.37657e-19 2.62977e-19 0.001882 1 0 GRIN2B 2904 broad.mit.edu 37 12 13716964 13716964 + Missense_Mutation SNP A A T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr12:13716964A>T uc001rbt.2 - 13 3387 c.3208T>A c.(3208-3210)TAT>AAT p.Y1070N NM_000834 NP_000825 Q13224 NMDE2_HUMAN N-methyl-D-aspartate receptor subunit 2B 1070 Cytoplasmic (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding central_nervous_system(4)|ovary(3)|skin(3)|lung(2) 12 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) ATGTTCCCATAGGTGACGGTG 0.567 NA 10 19 0 0 0.000978 0 0 PLCZ1 89869 broad.mit.edu 37 12 18858220 18858220 + Missense_Mutation SNP T T A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr12:18858220T>A uc010sid.1 - 7 935 c.744A>T c.(742-744)TTA>TTT p.L248F PLCZ1_uc001rdv.3_Missense_Mutation_p.L144F|PLCZ1_uc001rdw.3_5'UTR|PLCZ1_uc001rdu.1_Splice_Site|PLCZ1_uc009zil.1_RNA NM_033123 NP_149114 Q86YW0 PLCZ1_HUMAN phospholipase C, zeta 1 248 PI-PLC X-box. intracellular signal transduction|lipid catabolic process|multicellular organismal development nucleus|perinuclear region of cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|lung(1)|skin(1) 3 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) AGTGATTTTCTAAAGAGAGCA 0.368 NA 85 99 0 0 0.00361 0 0 PDE3A 5139 broad.mit.edu 37 12 20522936 20522936 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr12:20522936C>A uc001reh.1 + 1 740 c.718C>A c.(718-720)CTG>ATG p.L240M NM_000921 NP_000912 Q14432 PDE3A_HUMAN phosphodiesterase 3A 240 Helical; (Potential). lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding ovary(3)|upper_aerodigestive_tract(1) 4 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) GAGACCTTACCTGGCGTACCT 0.622 NA 27 38 9.80776e-20 1.87633e-19 0.00632 1 0 PDE3A 5139 broad.mit.edu 37 12 20783002 20783002 + Nonsense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr12:20783002C>A uc001reh.1 + 6 1723 c.1701C>A c.(1699-1701)TAC>TAA p.Y567* NM_000921 NP_000912 Q14432 PDE3A_HUMAN phosphodiesterase 3A 567 lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding ovary(3)|upper_aerodigestive_tract(1) 4 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) CCTTAACTTACACTCAGAGTG 0.443 NA 89 129 3.71036e-49 7.52721e-49 0.00361 1 0 SOX5 6660 broad.mit.edu 37 12 23793749 23793749 + Silent SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr12:23793749C>A uc001rfw.2 - 8 1116 c.1014G>T c.(1012-1014)CTG>CTT p.L338L SOX5_uc001rfx.2_Silent_p.L325L|SOX5_uc001rfy.2_Silent_p.L325L|SOX5_uc010siv.1_Silent_p.L325L|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Silent_p.L290L NM_006940 NP_008871 P35711 SOX5_HUMAN SRY (sex determining region Y)-box 5 isoform a 338 transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(5)|lung(1) 6 GACTTACCTGCAGTTGGAGTG 0.433 NA 18 123 3.70931e-20 7.12677e-20 0.006122 1 0 TMTC1 83857 broad.mit.edu 37 12 29904696 29904696 + Missense_Mutation SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr12:29904696G>A uc001rjb.2 - 5 991 c.517C>T c.(517-519)CAC>TAC p.H173Y TMTC1_uc001rjc.1_Missense_Mutation_p.H173Y NM_175861 NP_787057 Q8IUR5 TMTC1_HUMAN transmembrane and tetratricopeptide repeat 281 integral to membrane binding 0 Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032) GCTCCTTTGTGAGGGAACCGC 0.552 NA 13 20 0 0 0.001855 0 0 TMTC1 83857 broad.mit.edu 37 12 29920927 29920927 + Silent SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr12:29920927C>A uc001rjb.2 - 2 534 c.60G>T c.(58-60)GTG>GTT p.V20V TMTC1_uc001rjc.1_Silent_p.V20V NM_175861 NP_787057 Q8IUR5 TMTC1_HUMAN transmembrane and tetratricopeptide repeat 128 Helical; (Potential). integral to membrane binding 0 Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032) TGTACATCAGCACAAGAGTCA 0.358 NA 19 26 3.99206e-14 7.06368e-14 0.007413 1 0 CAPRIN2 65981 broad.mit.edu 37 12 30888056 30888056 + Missense_Mutation SNP G G C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr12:30888056G>C uc001rji.1 - 4 1406 c.655C>G c.(655-657)CAA>GAA p.Q219E CAPRIN2_uc001rjf.1_Missense_Mutation_p.Q16E|CAPRIN2_uc001rjg.1_5'UTR|CAPRIN2_uc001rjh.1_Missense_Mutation_p.Q219E|CAPRIN2_uc001rjj.1_5'UTR|CAPRIN2_uc001rjk.3_Missense_Mutation_p.Q219E|CAPRIN2_uc001rjl.3_Missense_Mutation_p.Q219E NM_001002259 NP_001002259 Q6IMN6 CAPR2_HUMAN C1q domain containing 1 isoform 1 219 negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter mitochondrion|receptor complex receptor binding|RNA binding ovary(1)|central_nervous_system(1) 2 all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) TACTGAACTTGAAGTATAGTT 0.408 NA 66 133 0 0 0.00361 0 0 FGD4 121512 broad.mit.edu 37 12 32793217 32793217 + Missense_Mutation SNP G G C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr12:32793217G>C uc001rkz.2 + 17 2528 c.2051G>C c.(2050-2052)AGA>ACA p.R684T FGD4_uc001rlc.2_Missense_Mutation_p.R769T|FGD4_uc001rla.2_Missense_Mutation_p.R340T|FGD4_uc010ske.1_Missense_Mutation_p.R796T|FGD4_uc001rlb.1_RNA NM_139241 NP_640334 Q96M96 FGD4_HUMAN FYVE, RhoGEF and PH domain containing 4 684 PH 2. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) TAGGACGTCAGAGCCCAGGCC 0.488 NA 5 185 0 0 0.001168 0 0 LRRK2 120892 broad.mit.edu 37 12 40677725 40677725 + Missense_Mutation SNP A A T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr12:40677725A>T uc001rmg.3 + 19 2411 c.2290A>T c.(2290-2292)AGT>TGT p.S764C LRRK2_uc001rmh.1_Missense_Mutation_p.S386C NM_198578 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 764 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1) 24 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) CTTACTGAATAGTGGATCTCG 0.388 NA 22 59 0 0 0.00333 0 0 PRICKLE1 144165 broad.mit.edu 37 12 42854219 42854219 + Missense_Mutation SNP G G C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr12:42854219G>C uc010skv.1 - 8 2175 c.1888C>G c.(1888-1890)CAG>GAG p.Q630E PRICKLE1_uc001rnl.2_Missense_Mutation_p.Q630E|PRICKLE1_uc010skw.1_Missense_Mutation_p.Q630E|PRICKLE1_uc001rnm.2_Missense_Mutation_p.Q630E|PRICKLE1_uc001rnk.1_5'Flank NM_001144881 NP_001138353 Q96MT3 PRIC1_HUMAN prickle homolog 1 630 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus cytosol|nuclear membrane zinc ion binding ovary(3)|skin(1) 4 all_cancers(12;4.25e-05)|Breast(8;0.176) GBM - Glioblastoma multiforme(48;0.2) AACTTGACCTGCTGGGGTCTG 0.478 NA 6 72 0 0 0.000978 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43828094 43828094 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr12:43828094G>T uc010skx.1 - 19 2674 c.2674C>A c.(2674-2676)CTT>ATT p.L892I ADAMTS20_uc001rno.1_Missense_Mutation_p.L46I|ADAMTS20_uc001rnp.1_Missense_Mutation_p.L46I NM_025003 NP_079279 P59510 ATS20_HUMAN a disintegrin-like and metalloprotease with 892 TSP type-1 2. proteinaceous extracellular matrix zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1) 19 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) AATGATGGAAGTGGCAAGTGG 0.338 NA 7 12 0.000157383 0.000191976 0.00308 1 0 ARID2 196528 broad.mit.edu 37 12 46244208 46244208 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr12:46244208G>T uc001ros.1 + 15 2302 c.2302G>T c.(2302-2304)GTA>TTA p.V768L ARID2_uc001ror.2_Missense_Mutation_p.V768L|ARID2_uc009zkg.1_Missense_Mutation_p.V224L|ARID2_uc009zkh.1_Missense_Mutation_p.V395L|ARID2_uc001rou.1_Missense_Mutation_p.V102L NM_152641 NP_689854 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 768 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(6)|skin(3)|upper_aerodigestive_tract(1) 10 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) CCATCCATCTGTAATTCCACA 0.463 NA 6 24 3.59834e-05 4.57629e-05 0.001168 1 0 MLL2 8085 broad.mit.edu 37 12 49420538 49420538 + Missense_Mutation SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr12:49420538C>G uc001rta.3 - 48 15211 c.15211G>C c.(15211-15213)GAG>CAG p.E5071Q NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 5071 chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 CCCTGGGTCTCATACACCTCC 0.637 NA N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 3 50 0 0 0.004672 0 0 ACVRL1 94 broad.mit.edu 37 12 52306269 52306269 + Missense_Mutation SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr12:52306269G>A uc001rzj.2 + 2 294 c.11G>A c.(10-12)GGC>GAC p.G4D ACVRL1_uc001rzk.2_Missense_Mutation_p.G4D|ACVRL1_uc010snm.1_Missense_Mutation_p.G18D NM_000020 NP_000011 P37023 ACVL1_HUMAN activin A receptor type II-like 1 precursor 4 blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells cell surface|integral to plasma membrane activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity lung(2) 2 BRCA - Breast invasive adenocarcinoma(357;0.0991) Adenosine triphosphate(DB00171) ATGACCTTGGGCTCCCCCAGG 0.587 NA Hereditary_Hemorrhagic_Telangiectasia 8 22 0 0 0.004482 0 0 KRT85 3891 broad.mit.edu 37 12 52758745 52758745 + Splice_Site SNP C C T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr12:52758745C>T uc001sag.2 - 2 749 c.629_splice c.e2+1 p.K210_splice NM_002283 NP_002274 P78386 KRT85_HUMAN keratin 85 epidermis development keratin filament protein binding|structural molecule activity ovary(1) 1 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) GCTGCACTCACTTCTTCTTGT 0.607 NA 22 101 0 0 0.001882 0 0 KRT4 3851 broad.mit.edu 37 12 53203200 53203200 + Silent SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr12:53203200G>A uc001saz.2 - 4 1294 c.1023C>T c.(1021-1023)GAC>GAT p.D341D NM_002272 NP_002263 B4DRS2 B4DRS2_HUMAN keratin 4 267 keratin filament structural molecule activity ovary(4)|skin(2) 6 AGTTGATCTCGTCATTAAGAC 0.557 Pancreas(190;284 2995 41444 45903) NA 6 75 0 0 0.001984 0 0 ITGA5 3678 broad.mit.edu 37 12 54802689 54802689 + Silent SNP G G A rs147213910 TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr12:54802689G>A uc001sga.2 - 5 701 c.633C>T c.(631-633)GCC>GCT p.A211A ITGA5_uc010sow.1_RNA|ITGA5_uc009znp.1_RNA NM_002205 NP_002196 P08648 ITA5_HUMAN integrin alpha 5 precursor 211 Extracellular (Potential).|FG-GAP 3. angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding ovary(2) 2 TGGTGAACTCGGCACTGAAGC 0.577 NA 4 50 0 0 0.000248 0 0 SDR9C7 121214 broad.mit.edu 37 12 57324168 57324168 + Silent SNP C C T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr12:57324168C>T uc010sqw.1 - 2 402 c.402G>A c.(400-402)CTG>CTA p.L134L NM_148897 NP_683695 Q8NEX9 DR9C7_HUMAN short chain dehydrogenase/reductase family 9C, 134 cytoplasm binding|oxidoreductase activity central_nervous_system(1) 1 TCAGTCCCACCAGGTTCACAT 0.572 NA 12 40 0 0 0.001855 0 0 R3HDM2 22864 broad.mit.edu 37 12 57662768 57662768 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr12:57662768C>A uc009zpm.1 - 15 1805 c.1770G>T c.(1768-1770)AGG>AGT p.R590S R3HDM2_uc010srn.1_RNA|R3HDM2_uc001snu.2_Missense_Mutation_p.R285S|R3HDM2_uc001snr.2_Missense_Mutation_p.R317S|R3HDM2_uc001sns.2_Missense_Mutation_p.R590S|R3HDM2_uc001snt.2_Missense_Mutation_p.R604S|R3HDM2_uc009zpn.1_Intron NM_014925 NP_055740 Q9Y2K5 R3HD2_HUMAN R3H domain containing 2 590 Gln-rich. nucleus nucleic acid binding ovary(2) 2 CCATGCTGCTCCTCTGGCTGC 0.582 NA 9 86 1.12685e-05 1.48953e-05 0.004482 1 0 ARHGAP9 64333 broad.mit.edu 37 12 57872980 57872980 + Silent SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr12:57872980G>A uc001sod.2 - 5 616 c.423C>T c.(421-423)CCC>CCT p.P141P ARHGAP9_uc001snz.2_5'Flank|ARHGAP9_uc001soa.2_5'Flank|ARHGAP9_uc001sob.2_Silent_p.P70P|ARHGAP9_uc001soc.2_Silent_p.P70P|ARHGAP9_uc001soe.1_Silent_p.P149P|ARHGAP9_uc010sro.1_Silent_p.P70P NM_032496 NP_115885 Q9BRR9 RHG09_HUMAN Rho GTPase activating protein 9 isoform 1 70 SH3. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding lung(1) 1 GBM - Glioblastoma multiforme(3;3.37e-34) GAGAGGTGGAGGGAGCTTCTA 0.567 NA 7 67 0 0 0.001984 0 0 C12orf66 144577 broad.mit.edu 37 12 64587833 64587833 + Missense_Mutation SNP T T C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr12:64587833T>C uc001srw.3 - 3 1186 c.1127A>G c.(1126-1128)AAC>AGC p.N376S C12orf66_uc009zql.2_Missense_Mutation_p.N323S NM_152440 NP_689653 Q96MD2 CL066_HUMAN hypothetical protein LOC144577 376 ovary(1) 1 CTCCAAGCTGTTCAGATCAGA 0.498 NA 32 94 0 0 0.002096 0 0 CPSF6 11052 broad.mit.edu 37 12 69653891 69653891 + Silent SNP T T C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr12:69653891T>C uc001sut.3 + 8 1493 c.1383T>C c.(1381-1383)TCT>TCC p.S461S CPSF6_uc001suu.3_Silent_p.S498S|CPSF6_uc010stk.1_Silent_p.S92S NM_007007 NP_008938 Q16630 CPSF6_HUMAN cleavage and polyadenylation specific factor 6, 461 mRNA polyadenylation|protein tetramerization mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex mRNA binding|nucleotide binding|protein binding 0 all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187) Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241) CCAAAGTATCTGCTGATGATC 0.259 NA 11 46 0 0 0.008291 0 0 PTPRB 5787 broad.mit.edu 37 12 71029518 71029518 + Missense_Mutation SNP A A T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr12:71029518A>T uc001swc.3 - 2 428 c.384T>A c.(382-384)CAT>CAA p.H128Q PTPRB_uc001swa.3_Missense_Mutation_p.H128Q|PTPRB_uc001swd.3_Missense_Mutation_p.H127Q|PTPRB_uc009zrr.1_Intron|PTPRB_uc001swe.2_Missense_Mutation_p.H128Q NM_001109754 NP_001103224 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B Error:Variant_position_missing_in_P23467_after_alignment angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(2)|skin(1) 3 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) TCATCCAGCTATGGAGGTATT 0.443 NA 12 38 0 0 0.001368 0 0 PTPRR 5801 broad.mit.edu 37 12 71078512 71078512 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr12:71078512C>A uc001swi.1 - 9 1747 c.1331G>T c.(1330-1332)AGC>ATC p.S444I PTPRR_uc001swh.1_Missense_Mutation_p.S199I|PTPRR_uc009zrs.2_Missense_Mutation_p.S293I|PTPRR_uc010stq.1_Missense_Mutation_p.S332I|PTPRR_uc010str.1_Missense_Mutation_p.S293I NM_002849 NP_002840 Q15256 PTPRR_HUMAN protein tyrosine phosphatase, receptor type, R 444 Tyrosine-protein phosphatase.|Cytoplasmic (Potential). in utero embryonic development cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity skin(2)|ovary(1) 3 GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132) COAD - Colon adenocarcinoma(1;0.136) AATGTAGGTGCTCAATGAATC 0.294 NA 15 83 8.60227e-14 1.51018e-13 0.004007 1 0 TPH2 121278 broad.mit.edu 37 12 72335394 72335394 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr12:72335394G>T uc009zrw.1 + 2 277 c.136G>T c.(136-138)GAC>TAC p.D46Y TPH2_uc001swy.2_5'UTR NM_173353 NP_775489 Q8IWU9 TPH2_HUMAN tryptophan hydroxylase 2 46 aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity ovary(2)|central_nervous_system(1)|skin(1) 4 L-Tryptophan(DB00150) CAAAAATGACGACAAAGGCAA 0.393 NA 6 26 3.59834e-05 4.57629e-05 0.001168 1 0 NAV3 89795 broad.mit.edu 37 12 78542673 78542673 + Missense_Mutation SNP A A G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr12:78542673A>G uc001syp.2 + 22 4932 c.4759A>G c.(4759-4761)ACC>GCC p.T1587A NAV3_uc001syo.2_Missense_Mutation_p.T1587A|NAV3_uc010sub.1_Missense_Mutation_p.T1073A|NAV3_uc009zsf.2_Missense_Mutation_p.T418A NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 1587 Potential. nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 AAAAGTTGCTACCCTCACATC 0.308 NA HNSCC(70;0.22) 8 17 0 0 0.004482 0 0 RASSF9 9182 broad.mit.edu 37 12 86199574 86199574 + Missense_Mutation SNP C C T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr12:86199574C>T uc001taf.1 - 2 553 c.214G>A c.(214-216)GGG>AGG p.G72R NM_005447 NP_005438 O75901 RASF9_HUMAN Ras association (RalGDS/AF-6) domain family 72 Ras-associating. endosome transport|protein targeting|signal transduction cytosol|endosome|trans-Golgi network transport vesicle membrane protein binding|transporter activity ovary(1) 1 CTGGGCTTCCCCAGAAGAAAT 0.502 NA 15 73 0 0 0.003163 0 0 C12orf12 196477 broad.mit.edu 37 12 91347470 91347470 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr12:91347470G>T uc001tbj.2 - 1 1484 c.1050C>A c.(1048-1050)AAC>AAA p.N350K NM_152638 NP_689851 Q8TC90 CL012_HUMAN hypothetical protein LOC196477 350 Potential.|Glu-rich. central_nervous_system(1)|pancreas(1) 2 CTCTCTGCTCGTTCTCCTCCA 0.244 NA 12 46 1.52009e-12 2.58743e-12 0.003163 1 0 SLC17A8 246213 broad.mit.edu 37 12 100796415 100796415 + Silent SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr12:100796415G>T uc010svi.1 + 8 1258 c.945G>T c.(943-945)CCG>CCT p.P315P SLC17A8_uc009ztx.2_Intron NM_139319 NP_647480 Q8NDX2 VGLU3_HUMAN solute carrier family 17 (sodium-dependent 315 Helical; (Potential). neurotransmitter transport|sensory perception of sound|sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity ovary(3) 3 CATCTTTGCCGGTTTATGCAA 0.338 NA 27 61 4.22769e-11 6.95808e-11 0.00632 1 0 ANO4 121601 broad.mit.edu 37 12 101333107 101333107 + Missense_Mutation SNP A A G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr12:101333107A>G uc010svm.1 + 4 747 c.175A>G c.(175-177)AAT>GAT p.N59D ANO4_uc010svl.1_RNA|ANO4_uc001thw.2_Missense_Mutation_p.N24D|ANO4_uc001thx.2_Missense_Mutation_p.N59D NM_178826 NP_849148 Q32M45 ANO4_HUMAN anoctamin 4 59 Extracellular (Potential). chloride channel complex chloride channel activity ovary(4)|skin(2) 6 CAAGGATGTCAATATTCTTTT 0.398 NA HNSCC(74;0.22) 20 112 0 0 0.001882 0 0 ANO4 121601 broad.mit.edu 37 12 101505362 101505362 + Missense_Mutation SNP A A T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr12:101505362A>T uc010svm.1 + 24 2896 c.2324A>T c.(2323-2325)GAA>GTA p.E775V ANO4_uc001thw.2_Missense_Mutation_p.E740V|ANO4_uc001thx.2_Missense_Mutation_p.E775V|ANO4_uc001thy.2_Missense_Mutation_p.E295V NM_178826 NP_849148 Q32M45 ANO4_HUMAN anoctamin 4 775 Helical; (Potential). chloride channel complex chloride channel activity ovary(4)|skin(2) 6 GGAATTCTTGAAGGCATTGGA 0.328 NA HNSCC(74;0.22) 18 39 0 0 0.001882 0 0 EID3 493861 broad.mit.edu 37 12 104698266 104698266 + Missense_Mutation SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr12:104698266G>A uc001tkw.2 + 1 718 c.554G>A c.(553-555)CGA>CAA p.R185Q TXNRD1_uc010swk.1_Intron|TXNRD1_uc010swl.1_Intron|TXNRD1_uc010swm.1_Intron|TXNRD1_uc010swn.1_Intron|TXNRD1_uc010swo.1_Intron|TXNRD1_uc010swp.1_Intron|TXNRD1_uc010swq.1_Intron|TXNRD1_uc001tku.2_Intron|TXNRD1_uc001tko.1_Intron|TXNRD1_uc001tkp.1_Intron|TXNRD1_uc001tkv.1_Intron NM_001008394 NP_001008395 Q8N140 EID3_HUMAN EP300 interacting inhibitor of differentiation 185 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus 0 CCAAAGCCCCGACTTGAACAC 0.423 NA 52 132 0 0 0.00361 0 0 CHST11 50515 broad.mit.edu 37 12 105151069 105151069 + Silent SNP C C T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr12:105151069C>T uc001tkx.1 + 4 838 c.547C>T c.(547-549)CTG>TTG p.L183L CHST11_uc001tky.2_Silent_p.L178L|uc001tkz.2_5'Flank NM_018413 NP_060883 Q9NPF2 CHSTB_HUMAN carbohydrate sulfotransferase 11 183 Lumenal (Potential). chondroitin sulfate biosynthetic process Golgi membrane|integral to membrane chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity 0 CATGAAGTTCCTGTTTGTCCG 0.547 NA 11 53 0 0 0.001368 0 0 ATP2A2 488 broad.mit.edu 37 12 110760866 110760866 + Missense_Mutation SNP C C T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr12:110760866C>T uc001tqk.3 + 6 1096 c.533C>T c.(532-534)TCA>TTA p.S178L ATP2A2_uc001tql.3_Missense_Mutation_p.S178L|ATP2A2_uc010sxy.1_Intron NM_170665 NP_733765 P16615 AT2A2_HUMAN ATPase, Ca++ transporting, slow twitch 2 isoform 178 Cytoplasmic (By similarity). ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding ovary(3)|skin(1) 4 GTTGACCAGTCAATTCTCACA 0.378 NA 12 71 0 0 0.00245 0 0 LHX5 64211 broad.mit.edu 37 12 113906943 113906943 + Missense_Mutation SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr12:113906943C>G uc001tvj.1 - 2 955 c.381G>C c.(379-381)GAG>GAC p.E127D NM_022363 NP_071758 Q9H2C1 LHX5_HUMAN LIM homeobox protein 5 127 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 TGAGGCTGCCCTCCTTGAGGC 0.607 NA 4 13 0 0 0.000602 0 0 KSR2 283455 broad.mit.edu 37 12 118020126 118020126 + Missense_Mutation SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr12:118020126G>A uc001two.2 - 6 1178 c.1123C>T c.(1123-1125)CGC>TGC p.R375C NM_173598 NP_775869 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 404 intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1) 15 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) AGATCTCTGCGAGGGATCTGC 0.592 NA 15 80 0 0 0.006122 0 0 LRRC43 254050 broad.mit.edu 37 12 122675978 122675978 + Missense_Mutation SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr12:122675978G>A uc009zxm.2 + 6 978 c.953G>A c.(952-954)GGA>GAA p.G318E LRRC43_uc001ubw.3_Missense_Mutation_p.G133E|LRRC43_uc009zxn.2_Missense_Mutation_p.G79E NM_001098519 NP_001091989 Q8N309 LRC43_HUMAN leucine rich repeat containing 43 isoform 1 318 0 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225) AACATCAGAGGAGTCCTGGAC 0.527 NA OREG0022219 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 45 0 0 0.003163 0 0 SBNO1 55206 broad.mit.edu 37 12 123801789 123801789 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr12:123801789C>A uc010tap.1 - 20 2914 c.2914G>T c.(2914-2916)GAT>TAT p.D972Y SBNO1_uc010tao.1_Missense_Mutation_p.D971Y|SBNO1_uc010taq.1_Intron|SBNO1_uc001ues.1_5'Flank NM_018183 NP_060653 A3KN83 SBNO1_HUMAN sno, strawberry notch homolog 1 972 ATP binding|DNA binding|hydrolase activity breast(5)|skin(2)|ovary(1)|kidney(1) 9 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) ATTGCTCTATCAGCGCTCCAA 0.413 NA 11 61 1.08611e-07 1.56675e-07 0.000978 1 0 DNAH10 196385 broad.mit.edu 37 12 124382337 124382337 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr12:124382337G>T uc001uft.3 + 54 8972 c.8947G>T c.(8947-8949)GCA>TCA p.A2983S NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 2983 AAA 4 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) AATGATCCCGGCAGAAAATAT 0.303 NA 17 73 3.45872e-05 4.44929e-05 0.004007 1 0 GLT1D1 144423 broad.mit.edu 37 12 129373192 129373192 + Missense_Mutation SNP A A G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr12:129373192A>G uc010tbh.1 + 3 202 c.193A>G c.(193-195)ATC>GTC p.I65V GLT1D1_uc001uhx.1_Missense_Mutation_p.I76V|GLT1D1_uc001uhy.1_RNA NM_144669 NP_653270 Q96MS3 GL1D1_HUMAN glycosyltransferase 1 domain containing 1 76 biosynthetic process extracellular region transferase activity, transferring glycosyl groups 0 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019) AGGCCACCGAATCCCTTTTGG 0.453 NA 6 31 0 0 0.00308 0 0 FZD10 11211 broad.mit.edu 37 12 130648759 130648759 + Silent SNP G G C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr12:130648759G>C uc001uii.2 + 1 1728 c.1272G>C c.(1270-1272)CGG>CGC p.R424R uc001uig.1_5'Flank|uc001uih.1_5'Flank NM_007197 NP_009128 Q9ULW2 FZD10_HUMAN frizzled 10 precursor 424 Cytoplasmic (Potential). brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development cell projection|cell surface|cytoplasm|integral to plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding lung(3)|breast(1)|central_nervous_system(1) 5 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05) TCCACATCCGGAGGGTGATGA 0.622 NA 12 47 0 0 0.000978 0 0 POLE 5426 broad.mit.edu 37 12 133218360 133218360 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr12:133218360C>A uc001uks.1 - 39 5295 c.5251G>T c.(5251-5253)GCC>TCC p.A1751S POLE_uc001ukq.1_5'Flank|POLE_uc001ukr.1_Missense_Mutation_p.A555S|POLE_uc010tbq.1_RNA NM_006231 NP_006222 Q07864 DPOE1_HUMAN DNA-directed DNA polymerase epsilon 1751 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|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 nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding ovary(3)|skin(3)|lung(1)|central_nervous_system(1) 8 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) ATGCTGTCGGCCCCCTCCATG 0.607 NA DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 8 27 1.12685e-05 1.48953e-05 0.004482 1 0 PXMP2 5827 broad.mit.edu 37 12 133277921 133277921 + Missense_Mutation SNP T T A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr12:133277921T>A uc001ukt.2 + 4 550 c.485T>A c.(484-486)CTA>CAA p.L162Q PGAM5_uc010tbr.1_RNA NM_018663 NP_061133 Q9NR77 PXMP2_HUMAN peroxisomal membrane protein 2, 22kDa 162 Peroxisomal (Potential). integral to membrane|peroxisomal membrane protein binding 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06) TGGACGCCACTACAGTTCATC 0.537 NA 18 50 0 0 0.00499 0 0 KBTBD7 84078 broad.mit.edu 37 13 41768245 41768245 + Missense_Mutation SNP A A G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr13:41768245A>G uc001uxw.1 - 1 458 c.149T>C c.(148-150)CTG>CCG p.L50P uc001uxv.1_Intron NM_032138 NP_115514 Q8WVZ9 KBTB7_HUMAN kelch repeat and BTB (POZ) domain containing 7 50 protein binding ovary(1) 1 Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367) all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669) GAGCTGTGCCAGCAGGGCTGC 0.627 NA 38 55 0 0 0.00623 0 0 ZC3H13 23091 broad.mit.edu 37 13 46549882 46549882 + Silent SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr13:46549882C>A uc010tfw.1 - 11 2010 c.2004G>T c.(2002-2004)GTG>GTT p.V668V ZC3H13_uc001vas.1_Silent_p.V668V|ZC3H13_uc001vat.1_Silent_p.V668V NM_015070 NP_055885 Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 668 Arg/Glu-rich.|Potential. nucleic acid binding|zinc ion binding ovary(1)|lung(1) 2 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) TCCTATCATCCACTCTGTCTA 0.284 Esophageal Squamous(187;747 2077 11056 31291 44172) NA 7 20 3.09899e-07 4.40883e-07 0.004482 1 0 C13orf18 80183 broad.mit.edu 37 13 46935586 46935586 + Missense_Mutation SNP G G C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr13:46935586G>C uc010acl.2 - 8 1714 c.1109C>G c.(1108-1110)GCT>GGT p.A370G C13orf18_uc001vbf.3_Missense_Mutation_p.A303G|C13orf18_uc001vbg.3_Missense_Mutation_p.A98G|C13orf18_uc010tfz.1_Missense_Mutation_p.A213G|C13orf18_uc010acm.2_Missense_Mutation_p.A235G|C13orf18_uc010acn.2_Missense_Mutation_p.A155G|C13orf18_uc001vbe.3_Missense_Mutation_p.A370G|C13orf18_uc001vbh.3_Missense_Mutation_p.A370G|C13orf18_uc001vbi.3_Missense_Mutation_p.A213G|C13orf18_uc010aco.1_Missense_Mutation_p.A370G NM_025113 NP_079389 Q9H714 CM018_HUMAN hypothetical protein LOC80183 370 0 Lung NSC(96;2.31e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;2.19e-05) TATCGAGCCAGCTGCACTCAG 0.418 NA 8 29 0 0 0.004482 0 0 CAB39L 81617 broad.mit.edu 37 13 49951112 49951112 + Missense_Mutation SNP T T C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr13:49951112T>C uc001vcw.2 - 3 765 c.267A>G c.(265-267)ATA>ATG p.I89M CAB39L_uc001vcx.2_Missense_Mutation_p.I89M|CAB39L_uc010adf.2_Missense_Mutation_p.I86M NM_030925 NP_112187 Q9H9S4 CB39L_HUMAN calcium binding protein 39-like 89 cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation cytosol protein binding 0 Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226) CCTCAAAGTCTATCAGCTGCA 0.383 NA 24 39 0 0 0.005443 0 0 SETDB2 83852 broad.mit.edu 37 13 50062476 50062476 + Missense_Mutation SNP G G C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr13:50062476G>C uc001vcz.2 + 13 2569 c.1663G>C c.(1663-1665)GAA>CAA p.E555Q SETDB2_uc010adh.2_3'UTR|SETDB2_uc001vda.2_Missense_Mutation_p.E543Q NM_031915 NP_114121 Q96T68 SETB2_HUMAN SET domain, bifurcated 2 isoform a 555 SET. cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent chromosome|nucleus DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding ovary(1)|central_nervous_system(1) 2 Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;3.1e-09) TCTGCTGATTGAATCAGATGT 0.358 NA 9 71 0 0 0.006214 0 0 CCDC70 83446 broad.mit.edu 37 13 52439669 52439669 + Missense_Mutation SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr13:52439669G>A uc001vfu.3 + 2 451 c.155G>A c.(154-156)CGC>CAC p.R52H uc010tgr.1_RNA NM_031290 NP_112580 Q6NSX1 CCD70_HUMAN coiled-coil domain containing 70 precursor 52 extracellular region|plasma membrane 0 Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;2.4e-08) AAGGCTTTTCGCGAAGAGATG 0.512 NA 5 43 0 0 0.000602 0 0 OLFM4 10562 broad.mit.edu 37 13 53617354 53617354 + Missense_Mutation SNP T T A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr13:53617354T>A uc001vhl.2 + 4 685 c.685T>A c.(685-687)TCT>ACT p.S229T OLFM4_uc001vhk.1_Intron NM_006418 NP_006409 Q6UX06 OLFM4_HUMAN olfactomedin 4 precursor 229 Potential. cell adhesion extracellular space skin(1) 1 Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.13e-08) GTGTGAGGCCTCTAAAGATCA 0.493 NA 22 59 0 0 0.001882 0 0 KLF12 11278 broad.mit.edu 37 13 74420040 74420040 + Silent SNP T T G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr13:74420040T>G uc001vjf.2 - 4 816 c.594A>C c.(592-594)ACA>ACC p.T198T KLF12_uc010aeq.2_Silent_p.T198T|KLF12_uc001vjg.3_Silent_p.T198T NM_007249 NP_009180 Q9Y4X4 KLF12_HUMAN Kruppel-like factor 12 198 negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(1) 1 Prostate(6;0.00217)|Breast(118;0.0838) GBM - Glioblastoma multiforme(99;0.00677) ACCTTACAGCTGTGTAGACAA 0.493 NA 20 109 0 0 0.00333 0 0 LMO7 4008 broad.mit.edu 37 13 76382280 76382280 + Missense_Mutation SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr13:76382280G>A uc001vjv.2 + 7 1922 c.1162G>A c.(1162-1164)GAG>AAG p.E388K LMO7_uc010thv.1_Intron|LMO7_uc001vjt.1_Intron|LMO7_uc010thw.1_Intron|LMO7_uc001vjw.1_Missense_Mutation_p.E294K NM_015842 NP_056667 Q8WWI1 LMO7_HUMAN LIM domain only 7 isoform 2 673 cytoplasm|nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding large_intestine(2)|ovary(1)|prostate(1)|skin(1) 5 Breast(118;0.0992) GBM - Glioblastoma multiforme(99;0.0109) GAAGAGATGGGAGGCCATCCG 0.532 NA 7 52 0 0 0.00308 0 0 GPC5 2262 broad.mit.edu 37 13 92560270 92560270 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr13:92560270G>T uc010tif.1 + 6 1726 c.1360G>T c.(1360-1362)GTG>TTG p.V454L NM_004466 NP_004457 P78333 GPC5_HUMAN glypican 5 precursor 454 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding ovary(2)|skin(2)|upper_aerodigestive_tract(1) 5 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) AATTGATCCTGTGATAAATCA 0.353 NA 10 46 3.07112e-06 4.16617e-06 0.000978 1 0 DCT 1638 broad.mit.edu 37 13 95131399 95131399 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr13:95131399G>T uc001vlv.3 - 1 538 c.111C>A c.(109-111)AAC>AAA p.N37K DCT_uc010afh.2_Missense_Mutation_p.N37K NM_001922 NP_001913 P40126 TYRP2_HUMAN dopachrome tautomerase isoform 1 37 Lumenal, melanosome (Potential). epidermis development|melanin biosynthetic process from tyrosine cytosol|integral to membrane|melanosome membrane|microsome copper ion binding|dopachrome isomerase activity|oxidoreductase activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 5 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988) COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472) AGCACTCCTTGTTCACTAGGC 0.622 NA 13 37 0.00010058 0.000124382 0.001368 1 0 GPR183 1880 broad.mit.edu 37 13 99948198 99948198 + Missense_Mutation SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr13:99948198G>A uc001vog.2 - 2 376 c.202C>T c.(202-204)CTC>TTC p.L68F UBAC2_uc001voa.3_Intron|UBAC2_uc010tiu.1_Intron|UBAC2_uc001vob.3_Intron|UBAC2_uc010tiv.1_Intron|UBAC2_uc001vod.2_Intron|UBAC2_uc001voc.2_Intron|UBAC2_uc010tiw.1_Intron NM_004951 NP_004942 P32249 GP183_HUMAN EBV-induced G protein-coupled receptor 2 68 Cytoplasmic (Potential). humoral immune response|mature B cell differentiation involved in immune response integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled 0 GTTGAATAGAGGGTGGTAGAG 0.433 NA 9 57 0 0 0.006214 0 0 ITGBL1 9358 broad.mit.edu 37 13 102359230 102359230 + Missense_Mutation SNP T T A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr13:102359230T>A uc001vpb.2 + 9 1476 c.1257T>A c.(1255-1257)GAT>GAA p.D419E ITGBL1_uc010agb.2_Missense_Mutation_p.D370E|ITGBL1_uc001vpc.3_Missense_Mutation_p.D278E NM_004791 NP_004782 O95965 ITGBL_HUMAN integrin, beta-like 1 (with EGF-like repeat 419 IX.|Cysteine-rich tandem repeats. cell-matrix adhesion|integrin-mediated signaling pathway extracellular region|integrin complex binding|receptor activity ovary(1)|skin(1) 2 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) AATCAGCAGATGGCATATTGT 0.478 NA 5 138 0 0 0.001168 0 0 SOX1 6656 broad.mit.edu 37 13 112722023 112722023 + Missense_Mutation SNP G G C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr13:112722023G>C uc001vsb.1 + 1 111 c.51G>C c.(49-51)CAG>CAC p.Q17H NM_005986 NP_005977 O00570 SOX1_HUMAN SRY (sex determining region Y)-box 1 17 chromatin organization nucleus core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity 0 all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231) OV - Ovarian serous cystadenocarcinoma(48;0.132) GCGGCGCCCAGGCCCCCACGA 0.562 NA 5 16 0 0 0.001984 0 0 ATP11A 23250 broad.mit.edu 37 13 113481158 113481158 + Nonsense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr13:113481158G>T uc001vsi.3 + 12 1262 c.1174G>T c.(1174-1176)GAG>TAG p.E392* ATP11A_uc001vsj.3_Nonsense_Mutation_p.E392*|ATP11A_uc001vsm.1_Nonsense_Mutation_p.E268* NM_015205 NP_056020 P98196 AT11A_HUMAN ATPase, class VI, type 11A isoform a 392 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity large_intestine(2)|ovary(2) 4 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_lung(25;0.134)|all_epithelial(44;0.141) GGAGACTGGCGAGGGGCCTCT 0.527 NA 12 60 5.50884e-06 7.37624e-06 0.001368 1 0 F7 2155 broad.mit.edu 37 13 113771128 113771128 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr13:113771128G>T uc001vsv.2 + 7 671 c.620G>T c.(619-621)AGC>ATC p.S207I F7_uc010agp.1_Missense_Mutation_p.S200I|F7_uc001vsw.2_Missense_Mutation_p.S185I|F7_uc010tjt.1_Missense_Mutation_p.S138I NM_000131 NP_000122 P08709 FA7_HUMAN coagulation factor VII isoform a precursor 207 anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis endoplasmic reticulum lumen|Golgi lumen|plasma membrane calcium ion binding|glycoprotein binding|serine-type endopeptidase activity 0 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218) Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170) AGAAATGCCAGCAAACCCCAA 0.483 NA 14 110 2.23348e-06 3.05455e-06 0.004007 1 0 F7 2155 broad.mit.edu 37 13 113772915 113772915 + Missense_Mutation SNP A A T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr13:113772915A>T uc001vsv.2 + 9 1045 c.994A>T c.(994-996)ACG>TCG p.T332S F7_uc001vsw.2_Missense_Mutation_p.T310S|F7_uc010tjt.1_Missense_Mutation_p.T263S NM_000131 NP_000122 P08709 FA7_HUMAN coagulation factor VII isoform a precursor 332 Peptidase S1. T -> M (in FA7D). anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis endoplasmic reticulum lumen|Golgi lumen|plasma membrane calcium ion binding|glycoprotein binding|serine-type endopeptidase activity 0 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218) Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170) CTCTGAGAGGACGCTGGCCTT 0.677 NA 5 33 0 0 0.001984 0 0 CUL4A 8451 broad.mit.edu 37 13 113893788 113893788 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr13:113893788G>T uc010tjy.1 + 11 969 c.958G>T c.(958-960)GCA>TCA p.A320S CUL4A_uc010tjx.1_Missense_Mutation_p.A220S|CUL4A_uc010agu.2_Missense_Mutation_p.A181S|CUL4A_uc010tjz.1_5'UTR NM_001008895 NP_001008895 Q13619 CUL4A_HUMAN cullin 4A isoform 1 320 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) GCCGGACCTCGCACAGATGTA 0.582 NA 28 55 7.41945e-09 1.12974e-08 0.005443 1 0 OR11H12 440153 broad.mit.edu 37 14 19378073 19378073 + Silent SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr14:19378073C>A uc010tkp.1 + 1 480 c.480C>A c.(478-480)GTC>GTA p.V160V NM_001013354 NP_001013372 B2RN74 O11HC_HUMAN olfactory receptor, family 11, subfamily H, 160 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CCAAACTGGTCATACTGTGCT 0.473 NA 25 295 2.79863e-10 4.48516e-10 0.004656 1 0 OR4N2 390429 broad.mit.edu 37 14 20295688 20295688 + Silent SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr14:20295688C>A uc010tkv.1 + 1 81 c.81C>A c.(79-81)GTC>GTA p.V27V NM_001004723 NP_001004723 Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, 27 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1)|skin(1) 4 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) AGCTCCTGGTCTTTGTGCTAG 0.438 NA 15 166 4.7546e-09 7.32274e-09 0.004007 1 0 OR4K2 390431 broad.mit.edu 37 14 20344723 20344723 + Silent SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr14:20344723C>A uc001vwh.1 + 1 297 c.297C>A c.(295-297)ACC>ACA p.T99T NM_001005501 NP_001005501 Q8NGD2 OR4K2_HUMAN olfactory receptor, family 4, subfamily K, 99 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(2) 4 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GCTGCCTTACCCAGATATTCT 0.413 NA 19 83 8.00594e-06 1.06985e-05 0.007413 1 0 OR4K14 122740 broad.mit.edu 37 14 20483114 20483114 + Missense_Mutation SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr14:20483114G>A uc010tky.1 - 1 239 c.239C>T c.(238-240)CCC>CTC p.P80L NM_001004712 NP_001004712 Q8NGD5 OR4KE_HUMAN olfactory receptor, family 4, subfamily K, 80 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|large_intestine(1) 3 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2e-06) GBM - Glioblastoma multiforme(265;0.00124) GATCATCTTGGGAGTGGCAAA 0.488 NA 3 26 0 0 0.004672 0 0 RNASE13 440163 broad.mit.edu 37 14 21502328 21502328 + Silent SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr14:21502328G>T uc001vzj.2 - 2 258 c.120C>A c.(118-120)CCC>CCA p.P40P NDRG2_uc010tll.1_Intron NM_001012264 NP_001012264 Q5GAN3 RNS13_HUMAN ribonuclease, RNase A family, 13 precursor 40 extracellular region nucleic acid binding|pancreatic ribonuclease activity upper_aerodigestive_tract(1) 1 all_cancers(95;0.000759) OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08) GBM - Glioblastoma multiforme(265;0.019) AGTTAACCCTGGGATAGTCAA 0.468 NA 12 55 5.50884e-06 7.37624e-06 0.001368 1 0 CMTM5 116173 broad.mit.edu 37 14 23847665 23847665 + Silent SNP C C T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr14:23847665C>T uc010akm.2 + 2 678 c.234C>T c.(232-234)GCC>GCT p.A78A CMTM5_uc001wjs.2_Silent_p.A78A|CMTM5_uc001wjt.2_Silent_p.A78A|CMTM5_uc010akn.2_Intron|CMTM5_uc001wju.2_Intron|CMTM5_uc010ako.2_Intron NM_138460 NP_612469 Q96DZ9 CKLF5_HUMAN chemokine-like factor superfamily 5 isoform a 78 MARVEL. chemotaxis extracellular space|integral to membrane cytokine activity 0 all_cancers(95;2e-05) GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382) TCCTCTATGCCACCCAGTACT 0.562 NA 17 95 0 0 0.007413 0 0 NOVA1 4857 broad.mit.edu 37 14 26917911 26917911 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr14:26917911C>A uc001wpy.2 - 5 1096 c.778G>T c.(778-780)GGT>TGT p.G260C NOVA1_uc001wpz.2_Missense_Mutation_p.G236C|NOVA1_uc001wqa.2_Missense_Mutation_p.G138C NM_002515 NP_002506 P51513 NOVA1_HUMAN neuro-oncological ventral antigen 1 isoform 1 263 locomotory behavior|RNA splicing|synaptic transmission nucleus RNA binding skin(2)|upper_aerodigestive_tract(1)|breast(1)|liver(1) 5 GBM - Glioblastoma multiforme(265;0.0135) GCCACTGGACCTGTCACATTG 0.453 NA 10 109 5.16669e-11 8.46202e-11 0.000978 1 0 STRN3 29966 broad.mit.edu 37 14 31381009 31381009 + Silent SNP C C T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr14:31381009C>T uc001wqu.2 - 12 1788 c.1572G>A c.(1570-1572)GAG>GAA p.E524E STRN3_uc001wqv.2_Silent_p.E440E|STRN3_uc010tpj.1_RNA NM_001083893 NP_001077362 Q13033 STRN3_HUMAN nuclear autoantigen isoform 1 524 negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity 0 Hepatocellular(127;0.0877)|Breast(36;0.148) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805) GBM - Glioblastoma multiforme(265;0.0124) TGTAGATAGGCTCTACATCTA 0.338 NA 12 28 0 0 0.001368 0 0 PNN 5411 broad.mit.edu 37 14 39644500 39644500 + Missense_Mutation SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr14:39644500G>A uc001wuw.3 + 1 114 c.17G>A c.(16-18)AGA>AAA p.R6K NM_002687 NP_002678 Q9H307 PININ_HUMAN pinin, desmosome associated protein 6 Potential.|Necessary for interaction with RNPS1.|Necessary for mediating alternative 5' splicing.|Necessary for interactions with KRT8, KRT18 and KRT19. cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck DNA binding|protein binding|structural molecule activity ovary(1) 1 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0119) GTCGCCGTGAGAACTTTGCAG 0.592 NA 3 9 0 0 0.004672 0 0 MIA2 117153 broad.mit.edu 37 14 39716500 39716500 + Missense_Mutation SNP C C T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr14:39716500C>T uc001wux.2 + 4 916 c.722C>T c.(721-723)TCA>TTA p.S241L MIA2_uc010amy.1_Missense_Mutation_p.S172L NM_054024 NP_473365 Q96PC5 MIA2_HUMAN melanoma inhibitory activity 2 241 extracellular region ovary(1)|breast(1) 2 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0216) GCTTTTGAATCAGTTATTGAA 0.418 NA 13 41 0 0 0.001368 0 0 LRFN5 145581 broad.mit.edu 37 14 42356411 42356411 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr14:42356411C>A uc001wvm.2 + 3 1781 c.583C>A c.(583-585)CAC>AAC p.H195N LRFN5_uc010ana.2_Missense_Mutation_p.H195N NM_152447 NP_689660 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III 195 Extracellular (Potential). integral to membrane ovary(5)|pancreas(2)|central_nervous_system(1) 8 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) CTCCCATTTGCACAAGATGAC 0.438 NA HNSCC(30;0.082) 8 31 0.000157383 0.000191976 0.00308 1 0 RPL10L 140801 broad.mit.edu 37 14 47120508 47120508 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr14:47120508G>T uc001wwg.2 - 1 521 c.432C>A c.(430-432)AAC>AAA p.N144K NM_080746 NP_542784 Q96L21 RL10L_HUMAN ribosomal protein L10-like protein 144 spermatogenesis|translation cytosolic large ribosomal subunit|nucleus structural constituent of ribosome ovary(1) 1 CATGCTCCTCGTTCTGAAGCT 0.522 NA 20 59 6.33239e-15 1.13392e-14 0.001523 1 0 NID2 22795 broad.mit.edu 37 14 52472512 52472512 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr14:52472512G>T uc001wzo.2 - 21 4294 c.4060C>A c.(4060-4062)CCA>ACA p.P1354T NID2_uc010tqs.1_Missense_Mutation_p.P1306T|NID2_uc010tqt.1_Missense_Mutation_p.P1354T NM_007361 NP_031387 Q14112 NID2_HUMAN nidogen 2 precursor 1354 LDL-receptor class B 5. basement membrane calcium ion binding|collagen binding pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1) 7 Breast(41;0.0639)|all_epithelial(31;0.123) CGTTGTTCTGGGAGATACTCA 0.423 NA 11 74 0.000673444 0.000798266 0.008291 1 0 NID2 22795 broad.mit.edu 37 14 52534799 52534799 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr14:52534799G>T uc001wzo.2 - 2 545 c.311C>A c.(310-312)CCG>CAG p.P104Q NID2_uc010tqs.1_Missense_Mutation_p.P104Q|NID2_uc010tqt.1_Missense_Mutation_p.P104Q|NID2_uc001wzp.2_Missense_Mutation_p.P104Q NM_007361 NP_031387 Q14112 NID2_HUMAN nidogen 2 precursor 104 basement membrane calcium ion binding|collagen binding pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1) 7 Breast(41;0.0639)|all_epithelial(31;0.123) GGCGATGGCCGGGAAGTCGGT 0.642 NA 7 25 1.26484e-09 1.98445e-09 0.00308 1 0 TXNDC16 57544 broad.mit.edu 37 14 52936794 52936794 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr14:52936794C>A uc001wzs.2 - 16 2028 c.1579G>T c.(1579-1581)GTG>TTG p.V527L TXNDC16_uc010tqu.1_Missense_Mutation_p.V522L|TXNDC16_uc010aoe.2_RNA NM_020784 NP_065835 Q9P2K2 TXD16_HUMAN thioredoxin domain containing 16 isoform 1 527 cell redox homeostasis extracellular region 0 Breast(41;0.0716) AATACTGACACACTAGAATAC 0.343 NA 7 75 8.12818e-05 0.000101263 0.001984 1 0 EXOC5 10640 broad.mit.edu 37 14 57699436 57699436 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr14:57699436C>A uc001xct.2 - 10 1138 c.887G>T c.(886-888)AGG>ATG p.R296M EXOC5_uc001xcs.2_5'Flank|EXOC5_uc010trg.1_Missense_Mutation_p.R241M|EXOC5_uc010trh.1_Missense_Mutation_p.R231M NM_006544 NP_006535 O00471 EXOC5_HUMAN SEC10 protein 296 exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking cytoplasm ovary(2)|breast(1) 3 ATCGGACTTCCTACATTCTTC 0.254 NA 14 35 2.48551e-13 4.31828e-13 0.00499 1 0 SYNE2 23224 broad.mit.edu 37 14 64537540 64537540 + Missense_Mutation SNP A A T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr14:64537540A>T uc001xgm.2 + 52 10839 c.10609A>T c.(10609-10611)AGT>TGT p.S3537C SYNE2_uc001xgl.2_Missense_Mutation_p.S3537C|SYNE2_uc010apw.1_Missense_Mutation_p.S243C NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 3537 Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) GCGCATCAGAAGTATCCAGAA 0.428 NA 12 39 0 0 0.000978 0 0 SYNE2 23224 broad.mit.edu 37 14 64564793 64564793 + Missense_Mutation SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr14:64564793G>A uc001xgm.2 + 62 12465 c.12235G>A c.(12235-12237)GAA>AAA p.E4079K SYNE2_uc001xgl.2_Missense_Mutation_p.E4079K|SYNE2_uc010apy.2_Missense_Mutation_p.E464K|SYNE2_uc010apx.1_Missense_Mutation_p.E471K|MIR548H-1_hsa-mir-548h-1|MI0006411_5'Flank|SYNE2_uc010apz.1_5'Flank NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 4079 Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) AGAAGGAGTAGAAAGAGATAG 0.483 NA 5 77 0 0 0.001984 0 0 FUT8 2530 broad.mit.edu 37 14 66028258 66028258 + Translation_Start_Site SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr14:66028258G>T uc001xin.2 + 3 1174 c.-23G>T c.(-25--21)CAGGG>CATGG FUT8_uc001xio.2_Translation_Start_Site|FUT8_uc010tsp.1_Intron|FUT8_uc001xir.3_RNA|FUT8_uc001xip.2_Translation_Start_Site|FUT8_uc001xiq.2_Intron NM_178155 NP_835368 Q9BYC5 FUT8_HUMAN fucosyltransferase 8 isoform a in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding ovary(1) 1 all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114) CAGGACTCCAGGGAAGTGAGT 0.428 NA 37 76 9.04072e-19 1.71493e-18 0.003271 1 0 Unknown 0 broad.mit.edu 37 14 66479778 66479778 + Missense_Mutation SNP C C T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr14:66479778C>T uc001xit.2 - 1 855 c.730G>A c.(730-732)GGC>AGC p.G244S SubName: Full=Nuclease sensitive element binding protein-1; NA AGAGGAGGGCCTCTGCGGAAT 0.522 NA 12 49 0 0 0.000978 0 0 ADAM21 8747 broad.mit.edu 37 14 70925550 70925550 + Missense_Mutation SNP C C T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr14:70925550C>T uc001xmd.2 + 1 1334 c.1334C>T c.(1333-1335)GCC>GTC p.A445V NM_003813 NP_003804 Q9UKJ8 ADA21_HUMAN ADAM metallopeptidase domain 21 preproprotein 445 Disintegrin.|Extracellular (Potential). proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding pancreas(1)|skin(1) 2 all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) CCTGGGGCTGCCTGTGCTTTT 0.498 NA 27 46 0 0 0.005443 0 0 SIPA1L1 26037 broad.mit.edu 37 14 72196853 72196853 + Nonsense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr14:72196853G>T uc001xms.2 + 18 5107 c.4759G>T c.(4759-4761)GAG>TAG p.E1587* SIPA1L1_uc001xmt.2_Nonsense_Mutation_p.E1566*|SIPA1L1_uc001xmu.2_Nonsense_Mutation_p.E1566*|SIPA1L1_uc001xmv.2_Nonsense_Mutation_p.E1587*|SIPA1L1_uc010ttm.1_Nonsense_Mutation_p.E1041*|SIPA1L1_uc001xmw.2_Nonsense_Mutation_p.E352* NM_015556 NP_056371 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1587 actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity ovary(3)|breast(1) 4 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) ACTGTCGGACGAGAGCATTTA 0.567 NA 9 58 1.12685e-05 1.48953e-05 0.004482 1 0 ZFYVE1 53349 broad.mit.edu 37 14 73464728 73464728 + Nonsense_Mutation SNP G G C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr14:73464728G>C uc001xnm.2 - 3 1419 c.779C>G c.(778-780)TCA>TGA p.S260* ZFYVE1_uc010arj.2_Nonsense_Mutation_p.S260* NM_021260 NP_067083 Q9HBF4 ZFYV1_HUMAN zinc finger, FYVE domain containing 1 isoform 1 260 endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm 1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding skin(1) 1 all_lung(585;1.33e-09) OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349) GACGAGGTCTGAGATGGCCAG 0.527 NA 3 42 0 0 0.004672 0 0 NGB 58157 broad.mit.edu 37 14 77734877 77734877 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr14:77734877G>T uc001xtg.1 - 3 628 c.253C>A c.(253-255)CTG>ATG p.L85M NM_021257 NP_067080 Q9NPG2 NGB_HUMAN neuroglobin 85 Globin. hemoglobin complex heme binding|oxygen binding|oxygen transporter activity 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0273) TACTCCTCCAGTGAGGACAGG 0.587 NA 15 81 2.23348e-06 3.05455e-06 0.004007 1 0 NRXN3 9369 broad.mit.edu 37 14 79434582 79434582 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr14:79434582G>T uc001xun.2 + 11 2407 c.1916G>T c.(1915-1917)CGA>CTA p.R639L NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.R764L NM_004796 NP_004787 Q9Y4C0 NRX3A_HUMAN neurexin 3 isoform 1 precursor 1012 Extracellular (Potential).|Laminin G-like 5. axon guidance|cell adhesion integral to plasma membrane metal ion binding|receptor activity ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1) 10 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) GTGGCCTCTCGAGATGGCTTT 0.522 NA 15 51 6.31663e-08 9.24099e-08 0.003163 1 0 C14orf145 145508 broad.mit.edu 37 14 81259284 81259284 + Silent SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr14:81259284C>G uc001xux.2 - 13 1551 c.1380G>C c.(1378-1380)CGG>CGC p.R460R C14orf145_uc010asz.1_RNA NM_152446 NP_689659 Q6ZU80 CE128_HUMAN hypothetical protein LOC145508 460 Potential. centriole|spindle pole 0 BRCA - Breast invasive adenocarcinoma(234;0.0586) CACTGAGGTACCGCTCAGCCT 0.537 NA 8 75 0 0 0.004482 0 0 GALC 2581 broad.mit.edu 37 14 88442730 88442730 + Nonsense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr14:88442730C>A uc001xvt.2 - 7 1123 c.724G>T c.(724-726)GAA>TAA p.E242* GALC_uc010tvw.1_RNA|GALC_uc010tvx.1_Nonsense_Mutation_p.E216*|GALC_uc010tvy.1_Nonsense_Mutation_p.E219*|GALC_uc010tvz.1_Nonsense_Mutation_p.E186*|GALC_uc001xvu.1_Nonsense_Mutation_p.E242* NM_000153 NP_000144 P54803 GALC_HUMAN galactosylceramidase isoform a precursor 242 carbohydrate metabolic process|galactosylceramide catabolic process lysosome cation binding|galactosylceramidase activity 0 TTGAAGAGTTCGGCATCAAGG 0.398 NA 5 46 0.00116845 0.00137772 0.001168 1 0 ZC3H14 79882 broad.mit.edu 37 14 89068290 89068290 + Missense_Mutation SNP G G C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr14:89068290G>C uc001xww.2 + 11 1602 c.1377G>C c.(1375-1377)ATG>ATC p.M459I ZC3H14_uc010twd.1_Missense_Mutation_p.M459I|ZC3H14_uc010twe.1_Missense_Mutation_p.M459I|ZC3H14_uc001xwx.2_Intron|ZC3H14_uc010twf.1_Intron|ZC3H14_uc001xwy.2_Intron|ZC3H14_uc010twg.1_Intron|ZC3H14_uc001xxa.2_Missense_Mutation_p.M4I|ZC3H14_uc001xxc.2_Intron|ZC3H14_uc001xxb.2_Intron NM_024824 NP_079100 Q6PJT7 ZC3HE_HUMAN zinc finger CCCH-type containing 14 isoform 1 459 cytoplasm|cytoplasm|nuclear speck protein binding|RNA binding|zinc ion binding ovary(2)|skin(1) 3 TGGAATCCATGGTCCATGCAG 0.388 NA 9 66 0 0 0.004482 0 0 TTC8 123016 broad.mit.edu 37 14 89338020 89338020 + Missense_Mutation SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr14:89338020G>A uc010ath.2 + 12 1359 c.1225G>A c.(1225-1227)GAA>AAA p.E409K TTC8_uc001xxl.2_Missense_Mutation_p.E154K|TTC8_uc010ati.2_Missense_Mutation_p.E195K|TTC8_uc001xxm.2_Missense_Mutation_p.E353K|TTC8_uc010atj.2_Missense_Mutation_p.E128K|TTC8_uc001xxi.2_Missense_Mutation_p.E393K|TTC8_uc001xxj.2_Missense_Mutation_p.E383K|TTC8_uc001xxk.2_Missense_Mutation_p.E353K NM_198309 NP_938051 Q8TAM2 TTC8_HUMAN tetratricopeptide repeat domain 8 isoform B 419 TPR 6. cilium assembly|establishment of anatomical structure orientation|sensory processing BBSome|centrosome|cilium membrane|microtubule basal body protein binding 0 GGCTGAAAATGAAGAAGAGGC 0.413 NA Bardet-Biedl_syndrome 5 101 0 0 0.001168 0 0 KCNK13 56659 broad.mit.edu 37 14 90650636 90650636 + Silent SNP C C T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr14:90650636C>T uc001xye.1 + 2 958 c.516C>T c.(514-516)CCC>CCT p.P172P NM_022054 NP_071337 Q9HB14 KCNKD_HUMAN potassium channel, subfamily K, member 13 172 Cytoplasmic (Potential). integral to membrane potassium channel activity|voltage-gated ion channel activity skin(1) 1 all_cancers(154;0.186) GGGCCCTGCCCCAGGAGAGCC 0.612 NA 21 70 0 0 0.001882 0 0 RPS6KA5 9252 broad.mit.edu 37 14 91338578 91338578 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr14:91338578C>A uc001xys.2 - 17 2464 c.2249G>T c.(2248-2250)AGC>ATC p.S750I RPS6KA5_uc010twi.1_Missense_Mutation_p.S671I NM_004755 NP_004746 O75582 KS6A5_HUMAN ribosomal protein S6 kinase, polypeptide 5 750 axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|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 cytoplasm|nucleoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity ovary(1) 1 all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146) Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201) GGTACTGGTGCTAGTCTTTTT 0.488 NA 9 49 9.70103e-10 1.53276e-09 0.008291 1 0 MOAP1 64112 broad.mit.edu 37 14 93650126 93650126 + Missense_Mutation SNP C C A rs148364724 TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr14:93650126C>A uc001ybj.2 - 3 832 c.462G>T c.(460-462)CAG>CAT p.Q154H C14orf109_uc001ybk.3_5'Flank|C14orf109_uc010auo.2_5'Flank NM_022151 NP_071434 Q96BY2 MOAP1_HUMAN modulator of apoptosis 1 154 activation of caspase activity|apoptotic nuclear change cytoplasm protein homodimerization activity skin(2)|ovary(1) 3 all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13) Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204) gcagggcaggctgaagagcct 0 NA 27 87 3.67414e-24 7.19296e-24 0.002445 1 0 SERPINA10 51156 broad.mit.edu 37 14 94756466 94756466 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr14:94756466G>T uc001yct.2 - 2 931 c.465C>A c.(463-465)AAC>AAA p.N155K SERPINA10_uc001ycu.3_Missense_Mutation_p.N155K NM_016186 NP_057270 Q9UK55 ZPI_HUMAN serine (or cysteine) proteinase inhibitor, clade 155 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity ovary(2)|skin(1) 3 all_cancers(154;0.105) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) CCAGTTCCAGGTTGCGGGAGA 0.522 NA 8 70 0.000442599 0.000529778 0.006214 1 0 C14orf49 161176 broad.mit.edu 37 14 95932342 95932342 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr14:95932342C>A uc001yei.3 - 3 568 c.553G>T c.(553-555)GGG>TGG p.G185W C14orf49_uc010avi.2_Missense_Mutation_p.G185W|C14orf49_uc001yej.1_Missense_Mutation_p.G185W NM_152592 NP_689805 Q6ZMZ3 SYNE3_HUMAN nesprin-3 185 Cytoplasmic (Potential). cytoskeletal anchoring at nuclear membrane integral to membrane|nuclear outer membrane|SUN-KASH complex actin binding central_nervous_system(1) 1 all_cancers(154;0.0937) COAD - Colon adenocarcinoma(157;0.245) CTGGGGTCCCCGATCCTGTTG 0.632 NA 13 39 4.3838e-07 6.19079e-07 0.001855 1 0 DIO3 1735 broad.mit.edu 37 14 102028467 102028467 + Missense_Mutation SNP T T A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr14:102028467T>A uc010txq.1 + 2 780 c.556T>A c.(556-558)TCT>ACT p.S186T DIO3OS_uc001ykd.1_5'Flank|uc001yke.2_5'Flank|uc001ykf.2_5'Flank|uc001ykg.2_5'Flank|uc001ykh.3_5'Flank|MIR1247_hsa-mir-1247|MI0006382_5'Flank NM_001362 NP_001353 P55073 IOD3_HUMAN deiodinase, iodothyronine, type III 186 Extracellular (Potential). cellular nitrogen compound metabolic process|hormone biosynthetic process endosome membrane|integral to membrane|plasma membrane thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_neural(303;0.185) CACCACGGACTCTCCCTACAT 0.647 NA 19 59 0 0 0.001216 0 0 AHNAK2 113146 broad.mit.edu 37 14 105409642 105409642 + Missense_Mutation SNP C C T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr14:105409642C>T uc010axc.1 - 7 12266 c.12146G>A c.(12145-12147)GGG>GAG p.G4049E AHNAK2_uc001ypx.2_Missense_Mutation_p.G3949E NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 4049 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GGGCAGGTGCCCTTTGAGGCT 0.627 NA 5 197 0 0 0.000602 0 0 MTA1 9112 broad.mit.edu 37 14 105911775 105911775 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr14:105911775G>T uc001yqx.2 + 3 304 c.117G>T c.(115-117)GAG>GAT p.E39D MTA1_uc001yqy.2_RNA|MTA1_uc001yqz.1_Translation_Start_Site|MTA1_uc001yra.1_Translation_Start_Site NM_004689 NP_004680 Q13330 MTA1_HUMAN metastasis associated protein 39 BAH. signal transduction cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1) 2 all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026) Epithelial(152;0.19) GGAACGTGGAGGCCAAAGTGG 0.657 NA 7 48 0.00198382 0.00231877 0.001984 1 0 MTA1 9112 broad.mit.edu 37 14 105924709 105924709 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr14:105924709G>T uc001yqx.2 + 8 840 c.653G>T c.(652-654)CGC>CTC p.R218L MTA1_uc001yqy.2_RNA|MTA1_uc001yqz.1_Missense_Mutation_p.R132L|MTA1_uc001yra.1_Missense_Mutation_p.R132L|MTA1_uc001yrb.2_5'UTR NM_004689 NP_004680 Q13330 MTA1_HUMAN metastasis associated protein 218 ELM2. signal transduction cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1) 2 all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026) Epithelial(152;0.19) GTGGTGGCCCGGTGAGTCCTG 0.632 NA 6 23 0.00198382 0.00231877 0.001984 1 0 Unknown 0 broad.mit.edu 37 15 20658886 20658886 + Missense_Mutation SNP C C T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr15:20658886C>T uc001ytg.2 - 14 2000 c.1291G>A c.(1291-1293)GGA>AGA p.G431R uc010tyx.1_Intron|uc001yth.3_Missense_Mutation_p.G431R|uc010tyy.1_Missense_Mutation_p.G431R|uc010tyz.1_Missense_Mutation_p.G279R RecName: Full=Putative HERC2-like protein 3; NA ATATCGATTCCCTCAGGAATA 0.363 NA 7 106 0 0 0.001984 0 0 Unknown 0 broad.mit.edu 37 15 22440467 22440467 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr15:22440467G>T uc001yug.2 - 1 399 c.380C>A c.(379-381)GCC>GAC p.A127D full-length cDNA clone CS0DI014YE21 of Placenta Cot 25-normalized of Homo sapiens (human). NA AGTCAGCTTGGCTCCCTTCTT 0.453 NA 8 29 0.00621372 0.00712032 0.006214 1 0 Unknown 0 broad.mit.edu 37 15 22440669 22440669 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr15:22440669G>T uc001yug.2 - 1 197 c.178C>A c.(178-180)CTG>ATG p.L60M full-length cDNA clone CS0DI014YE21 of Placenta Cot 25-normalized of Homo sapiens (human). NA CTCACGTCCAGCCTCAGGGCA 0.527 NA 4 50 0.00024832 0.000301804 0.000248 1 0 ARHGAP11B 89839 broad.mit.edu 37 15 30938316 30938316 + Splice_Site SNP G G A rs112615235 by1000genomes TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr15:30938316G>A uc010azv.1 + 11 c.1127_splice c.e11-1 ARHGAP11B_uc001zeu.2_Splice_Site Q3KRB8 RHGBB_HUMAN Homo sapiens cDNA, FLJ17072. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity 0 all_lung(180;2.71e-09)|Breast(32;0.00116) all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153) TTCCTTGGCAGTGGATAAGTT 0.393 NA 5 26 0 0 0.000602 0 0 PLA2G4E 123745 broad.mit.edu 37 15 42298308 42298308 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr15:42298308C>A uc001zow.1 - 3 318 c.318G>T c.(316-318)GAG>GAT p.E106D NM_001080490 NP_001073959 Q3MJ16 PA24E_HUMAN phospholipase A2, group 4E 117 C2. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity 0 all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273) OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06) AGACACTCAACTCTAGCACGT 0.512 NA 10 28 4.68919e-08 6.92803e-08 0.008291 1 0 GANC 2595 broad.mit.edu 37 15 42600445 42600445 + Missense_Mutation SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr15:42600445C>G uc001zpi.2 + 8 965 c.651C>G c.(649-651)TTC>TTG p.F217L GANC_uc001zph.2_Missense_Mutation_p.F217L|GANC_uc001zpj.1_5'UTR NM_198141 NP_937784 Q8TET4 GANC_HUMAN glucosidase, alpha; neutral C 217 carbohydrate metabolic process carbohydrate binding|maltose alpha-glucosidase activity central_nervous_system(2) 2 all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153) GBM - Glioblastoma multiforme(94;1.06e-06) GTTTGGATTTCTCCTTGCATG 0.393 NA 27 112 0 0 0.001786 0 0 TP53BP1 7158 broad.mit.edu 37 15 43724817 43724817 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr15:43724817C>A uc001zrs.2 - 17 3383 c.3235G>T c.(3235-3237)GGT>TGT p.G1079C TP53BP1_uc010udp.1_Missense_Mutation_p.G1079C|TP53BP1_uc001zrq.3_Missense_Mutation_p.G1084C|TP53BP1_uc001zrr.3_Missense_Mutation_p.G1084C|TP53BP1_uc010udq.1_Missense_Mutation_p.G1084C NM_005657 NP_005648 Q12888 TP53B_HUMAN tumor protein p53 binding protein 1 isoform 3 1079 double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1) 7 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) GTATGGTCACCCTCCAATTTT 0.453 NA Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes 8 25 0.000274275 0.000331549 0.004482 1 0 B2M 567 broad.mit.edu 37 15 45007761 45007761 + Nonsense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr15:45007761G>T uc001zuc.2 + 2 268 c.208G>T c.(208-210)GAG>TAG p.E70* B2M_uc010uek.1_Nonsense_Mutation_p.E70*|B2M_uc010bdx.1_Intron NM_004048 NP_004039 P61769 B2MG_HUMAN beta-2-microglobulin precursor 70 Ig-like C1-type. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction early endosome membrane|Golgi membrane|MHC class I protein complex protein binding ovary(2)|skin(1) 3 all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122) all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192) TGAAAAAGTGGAGCATTCAGA 0.413 NA 9 46 0.00448238 0.00518058 0.004482 1 0 CEP152 22995 broad.mit.edu 37 15 49044594 49044594 + Nonsense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr15:49044594C>A uc001zwy.2 - 21 3452 c.3418G>T c.(3418-3420)GGA>TGA p.G1140* CEP152_uc001zwz.2_Nonsense_Mutation_p.G1140*|CEP152_uc001zxa.1_Nonsense_Mutation_p.G1047* NM_014985 NP_055800 O94986 CE152_HUMAN centrosomal protein 152kDa 1140 centrosome duplication|G2/M transition of mitotic cell cycle centrosome|cytosol protein kinase binding lung(2) 2 all_lung(180;0.0428) all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06) GCATGGTGTCCAGCAGCAGGT 0.458 NA 25 111 3.28513e-13 5.70016e-13 0.003954 1 0 KIAA1370 56204 broad.mit.edu 37 15 52877008 52877008 + Missense_Mutation SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr15:52877008C>G uc002acg.3 - 12 3164 c.3011G>C c.(3010-3012)AGA>ACA p.R1004T KIAA1370_uc002ach.3_RNA|KIAA1370_uc010bfg.1_Missense_Mutation_p.R916T|KIAA1370_uc002acf.3_Missense_Mutation_p.R34T|KIAA1370_uc010ugf.1_Missense_Mutation_p.R1011T NM_019600 NP_062546 Q32MH5 K1370_HUMAN hypothetical protein LOC56204 1004 0 all cancers(107;0.0803) ATTAACACTTCTCTTCACTTC 0.343 NA 6 28 0 0 0.00308 0 0 UNC13C 440279 broad.mit.edu 37 15 54685257 54685257 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr15:54685257G>T uc002ack.2 + 16 4725 c.4725G>T c.(4723-4725)CAG>CAT p.Q1575H UNC13C_uc002acl.2_Missense_Mutation_p.Q405H NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 1575 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(5)|pancreas(2) 7 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) GTAAGAAACAGGATATTCCTC 0.373 NA 16 75 5.03518e-11 8.26681e-11 0.007413 1 0 HERC1 8925 broad.mit.edu 37 15 63955365 63955365 + Missense_Mutation SNP T T A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr15:63955365T>A uc002amp.2 - 44 8867 c.8719A>T c.(8719-8721)AGT>TGT p.S2907C NM_003922 NP_003913 Q15751 HERC1_HUMAN hect domain and RCC1-like domain 1 2907 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity ovary(6)|breast(6)|lung(5)|central_nervous_system(2) 19 TCTCTCCGACTTTGATTCCTG 0.408 NA 57 140 0 0 0.00361 0 0 SNX1 6642 broad.mit.edu 37 15 64426924 64426924 + Missense_Mutation SNP A A T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr15:64426924A>T uc002amv.2 + 12 1319 c.1283A>T c.(1282-1284)CAG>CTG p.Q428L SNX1_uc010bgv.2_Missense_Mutation_p.Q142L|SNX1_uc010uio.1_Missense_Mutation_p.Q428L|SNX1_uc002amw.2_Intron|SNX1_uc002amx.2_Missense_Mutation_p.Q363L|SNX1_uc002amy.2_Missense_Mutation_p.Q357L|SNX1_uc010bgw.2_Missense_Mutation_p.Q330L NM_003099 NP_003090 Q13596 SNX1_HUMAN sorting nexin 1 isoform a 428 BAR. cell communication|early endosome to Golgi transport|endocytosis|intracellular protein transport early endosome membrane|Golgi apparatus phosphatidylinositol binding|protein binding|protein transporter activity 0 GCCACACTGCAGAAGAAGCGG 0.627 NA 9 32 0 0 0.004482 0 0 RBPMS2 348093 broad.mit.edu 37 15 65041311 65041311 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr15:65041311C>A uc002anq.2 - 5 558 c.306G>T c.(304-306)AGG>AGT p.R102S NM_194272 NP_919248 Q6ZRY4 RBPS2_HUMAN RNA binding protein with multiple splicing 2 102 RRM. nucleic acid binding|nucleotide binding 0 CAAACTCTAGCCTCAGAGTCT 0.517 NA 16 85 3.52763e-06 4.77101e-06 0.00499 1 0 DPP8 54878 broad.mit.edu 37 15 65744362 65744362 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr15:65744362C>A uc002aov.2 - 18 3976 c.2398G>T c.(2398-2400)GAC>TAC p.D800Y DPP8_uc002aow.2_Missense_Mutation_p.D800Y|DPP8_uc010uiv.1_RNA|DPP8_uc002aox.2_Missense_Mutation_p.D784Y|DPP8_uc002aoy.2_Missense_Mutation_p.D749Y|DPP8_uc002aoz.2_Missense_Mutation_p.D684Y|DPP8_uc010bhj.2_Missense_Mutation_p.D800Y|DPP8_uc002apa.2_Missense_Mutation_p.D597Y|DPP8_uc010bhi.2_Missense_Mutation_p.D103Y|DPP8_uc010bhk.1_Missense_Mutation_p.D369Y NM_130434 NP_569118 Q6V1X1 DPP8_HUMAN dipeptidyl peptidase 8 isoform 1 800 PDQNE -> LTRMN (in Ref. 6; AAQ13623). immune response|proteolysis cytoplasm|membrane|nucleus aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity ovary(1) 1 TCATTCTGGTCAGGGTGACCC 0.423 NA 41 128 5.44703e-19 1.0347e-18 0.002222 1 0 UACA 55075 broad.mit.edu 37 15 70991943 70991943 + Silent SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr15:70991943C>A uc002asr.2 - 2 239 c.135G>T c.(133-135)GGG>GGT p.G45G UACA_uc010uke.1_Silent_p.G45G|UACA_uc002asq.2_Silent_p.G32G|UACA_uc010bin.1_Silent_p.G31G NM_018003 NP_060473 Q9BZF9 UACA_HUMAN uveal autoantigen with coiled-coil domains and 45 ANK 1. cytoskeleton|extracellular region ovary(2)|pancreas(1)|skin(1) 4 TTTCTACATCCCCCCTTTCTG 0.373 NA 14 82 1.49906e-05 1.9584e-05 0.00245 1 0 LRRC49 54839 broad.mit.edu 37 15 71329670 71329670 + Missense_Mutation SNP A A G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr15:71329670A>G uc002asw.2 + 15 2103 c.1856A>G c.(1855-1857)GAG>GGG p.E619G LRRC49_uc002asu.2_Missense_Mutation_p.E609G|LRRC49_uc002asx.2_Missense_Mutation_p.E575G|LRRC49_uc010ukf.1_Missense_Mutation_p.E624G|LRRC49_uc002asy.2_Missense_Mutation_p.E325G|LRRC49_uc002asz.2_Missense_Mutation_p.E591G NM_017691 NP_060161 Q8IUZ0 LRC49_HUMAN leucine rich repeat containing 49 619 cytoplasm|microtubule ovary(1) 1 GAAAAGCTAGAGGTAAAACTA 0.333 NA 24 91 0 0 0.003954 0 0 HEXA 3073 broad.mit.edu 37 15 72648940 72648940 + Missense_Mutation SNP T T C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr15:72648940T>C uc002aun.3 - 2 479 c.272A>G c.(271-273)GAG>GGG p.E91G CELF6_uc002auk.3_RNA|HEXA_uc010ukn.1_Missense_Mutation_p.E102G|HEXA_uc002auo.3_5'UTR|HEXA_uc010bix.2_Missense_Mutation_p.E91G|HEXA_uc010biy.2_5'UTR|HEXA_uc010uko.1_5'UTR|HEXA_uc010biz.1_RNA NM_000520 NP_000511 P06865 HEXA_HUMAN hexosaminidase A preproprotein 91 cell death lysosome beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity ovary(3)|upper_aerodigestive_tract(1) 4 CACATTCTTCTCCAGTGTATG 0.493 NA 23 39 0 0 0.00333 0 0 GOLGA6B 55889 broad.mit.edu 37 15 72954782 72954782 + Missense_Mutation SNP T T A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr15:72954782T>A uc010uks.1 + 11 1078 c.1037T>A c.(1036-1038)CTC>CAC p.L346H NM_018652 NP_061122 A6NDN3 GOG6B_HUMAN golgi autoantigen, golgin subfamily a, 6B 346 Potential. 0 GAGGAGATGCTCCGAGAGCAG 0.562 NA 77 359 0 0 0.00361 0 0 SEMA7A 8482 broad.mit.edu 37 15 74703307 74703307 + Missense_Mutation SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr15:74703307C>G uc002axv.2 - 14 1699 c.1659G>C c.(1657-1659)AAG>AAC p.K553N SEMA7A_uc010ulk.1_Missense_Mutation_p.K388N|SEMA7A_uc010ull.1_Missense_Mutation_p.K539N NM_003612 NP_003603 O75326 SEM7A_HUMAN semaphorin 7A isoform 1 preproprotein 553 Ig-like C2-type. axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response anchored to membrane|external side of plasma membrane receptor activity breast(1)|central_nervous_system(1) 2 CCAGGGAAACCTTCTGCAGTG 0.627 NA 10 81 0 0 0.008291 0 0 CSPG4 1464 broad.mit.edu 37 15 75980924 75980924 + Missense_Mutation SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr15:75980924C>G uc002baw.2 - 3 2575 c.2482G>C c.(2482-2484)GCT>CCT p.A828P NM_001897 NP_001888 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 precursor 828 CSPG 4.|Extracellular (Potential).|Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity ovary(2)|pancreas(1) 3 TTCCTGGGAGCCTGAACCACC 0.617 NA 11 69 0 0 0.001368 0 0 ACSBG1 23205 broad.mit.edu 37 15 78486874 78486874 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr15:78486874G>T uc002bdh.2 - 3 483 c.427C>A c.(427-429)CGC>AGC p.R143S ACSBG1_uc010umw.1_Missense_Mutation_p.R143S|ACSBG1_uc010umx.1_Intron|ACSBG1_uc010umy.1_Missense_Mutation_p.R36S NM_015162 NP_055977 Q96GR2 ACBG1_HUMAN lipidosin 143 long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity ovary(1) 1 GCGGCTCTGCGGGCGAGCAGG 0.622 NA 7 32 0.00198382 0.00231877 0.001984 1 0 CHRNA5 1138 broad.mit.edu 37 15 78882859 78882859 + Missense_Mutation SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr15:78882859C>G uc002bdy.2 + 5 1288 c.1126C>G c.(1126-1128)CAG>GAG p.Q376E CHRNA5_uc002bdz.2_Intron NM_000745 NP_000736 P30532 ACHA5_HUMAN cholinergic receptor, nicotinic, alpha 5 376 Cytoplasmic (Potential). behavioral response to nicotine cell junction|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity ovary(1)|central_nervous_system(1)|skin(1) 3 GTACTTCACTCAGAAAGAGGA 0.438 NA 3 88 0 0 0.004672 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79051871 79051871 + Silent SNP T T A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr15:79051871T>A uc002bej.3 - 24 5164 c.4953A>T c.(4951-4953)CTA>CTT p.L1651L NM_014272 NP_055087 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 1651 PLAC. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding 0 AGCGGCCCAGTAGGCGCAGCG 0.706 NA 4 13 0 0 0.000248 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79090375 79090375 + Missense_Mutation SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr15:79090375C>G uc002bej.3 - 3 748 c.537G>C c.(535-537)CAG>CAC p.Q179H ADAMTS7_uc010und.1_Missense_Mutation_p.Q179H|ADAMTS7_uc002bek.1_Missense_Mutation_p.Q179H NM_014272 NP_055087 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 179 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding 0 CCACATGGGGCTGGGCGTGGC 0.627 NA 16 46 0 0 0.004007 0 0 ARNT2 9915 broad.mit.edu 37 15 80767527 80767527 + Silent SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr15:80767527G>T uc002bfr.2 + 5 751 c.585G>T c.(583-585)CTG>CTT p.L195L ARNT2_uc002bfq.2_Silent_p.L195L|ARNT2_uc010unm.1_Silent_p.L184L|ARNT2_uc002bfs.2_Silent_p.L184L NM_014862 NP_055677 Q9HBZ2 ARNT2_HUMAN aryl hydrocarbon receptor nuclear translocator 195 PAS 1. central nervous system development|in utero embryonic development|response to hypoxia aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity central_nervous_system(3)|ovary(1)|pancreas(1) 5 BRCA - Breast invasive adenocarcinoma(143;0.134) TGGAGAAGCTGAGAGAGCAAC 0.463 NA 19 56 2.94398e-08 4.37364e-08 0.007413 1 0 STARD5 80765 broad.mit.edu 37 15 81615245 81615245 + Silent SNP C C T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr15:81615245C>T uc002bgm.2 - 2 228 c.144G>A c.(142-144)GGG>GGA p.G48G STARD5_uc002bgn.2_Intron NM_181900 NP_871629 Q9NSY2 STAR5_HUMAN StAR-related lipid transfer protein 5 48 START. C21-steroid hormone biosynthetic process|lipid transport cytosol lipid binding ovary(1) 1 CTTACAGGTTCCCTGGAAACT 0.378 NA 14 48 0 0 0.003163 0 0 CPEB1 64506 broad.mit.edu 37 15 83226674 83226674 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr15:83226674G>T uc002bit.2 - 4 759 c.622C>A c.(622-624)CCT>ACT p.P208T CPEB1_uc002biq.2_Missense_Mutation_p.P73T|CPEB1_uc002bir.2_Missense_Mutation_p.P73T|CPEB1_uc002bis.2_Missense_Mutation_p.P73T|CPEB1_uc010uod.1_Intron|CPEB1_uc010uoe.1_Missense_Mutation_p.P151T|CPEB1_uc002biu.2_Missense_Mutation_p.P175T|CPEB1_uc010uof.1_Missense_Mutation_p.P73T|CPEB1_uc002biv.2_Missense_Mutation_p.P148T|CPEB1_uc002bip.2_5'Flank NM_001079533 NP_001073001 Q9BZB8 CPEB1_HUMAN cytoplasmic polyadenylation element binding 148 mRNA processing|regulation of translation cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane nucleotide binding|RNA binding ovary(1)|breast(1) 2 BRCA - Breast invasive adenocarcinoma(143;0.229) GGATCCAGAGGCAGGAAGCTC 0.532 NA 10 58 7.48243e-07 1.04676e-06 0.006214 1 0 NTRK3 4916 broad.mit.edu 37 15 88680741 88680741 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr15:88680741C>A uc002bme.1 - 6 678 c.516G>T c.(514-516)CAG>CAT p.Q172H NTRK3_uc002bmh.2_Missense_Mutation_p.Q172H|NTRK3_uc002bmf.1_Missense_Mutation_p.Q172H|NTRK3_uc010upl.1_Missense_Mutation_p.Q74H|NTRK3_uc010bnh.1_Missense_Mutation_p.Q172H|NTRK3_uc002bmg.2_Missense_Mutation_p.Q172H NM_001012338 NP_001012338 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 172 Extracellular (Potential).|LRRCT. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(234) soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1) 281 BRCA - Breast invasive adenocarcinoma(143;0.211) CCTGCCAGAGCTGCATCCAGC 0.567 NA T ETV6 congenital fibrosarcoma|Secretory breast TSP Lung(13;0.10) 9 19 1.12685e-05 1.48953e-05 0.004482 1 0 FURIN 5045 broad.mit.edu 37 15 91423431 91423431 + Missense_Mutation SNP A A G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr15:91423431A>G uc002bpu.1 + 13 1700 c.1484A>G c.(1483-1485)TAT>TGT p.Y495C NM_002569 NP_002560 P09958 FURIN_HUMAN furin preproprotein 495 cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity central_nervous_system(4)|lung(2)|breast(1) 7 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) ACCCTGTCCTATAATCGCCGT 0.692 NA 4 22 0 0 0.000602 0 0 C15orf32 145858 broad.mit.edu 37 15 93015532 93015532 + Missense_Mutation SNP T T A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr15:93015532T>A uc002brc.1 + 1 626 c.154T>A c.(154-156)TGG>AGG p.W52R C15orf32_uc010bod.1_RNA NM_153040 NP_694585 Q32M92 CO032_HUMAN hypothetical protein LOC145858 52 ovary(1) 1 Lung NSC(78;0.0893)|all_lung(78;0.125) BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125) GCCATGTGTCTGGACCCTGTG 0.423 NA 19 96 0 0 0.001216 0 0 FAM169B 283777 broad.mit.edu 37 15 98995109 98995109 + Silent SNP T T A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr15:98995109T>A uc002buk.1 - 5 565 c.315A>T c.(313-315)CCA>CCT p.P105P NM_182562 NP_872368 Q8N8A8 F169B_HUMAN hypothetical protein LOC283777 105 0 CCTCGTCCTCTGGGAATGTCT 0.562 NA 5 14 0 0 0.000602 0 0 IGF1R 3480 broad.mit.edu 37 15 99250831 99250831 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr15:99250831G>T uc002bul.2 + 2 185 c.135G>T c.(133-135)CAG>CAT p.Q45H IGF1R_uc010urq.1_Missense_Mutation_p.Q45H|IGF1R_uc010bon.2_Missense_Mutation_p.Q45H NM_000875 NP_000866 P08069 IGF1R_HUMAN insulin-like growth factor 1 receptor precursor 45 anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization microsome ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding lung(3)|kidney(3)|ovary(1)|central_nervous_system(1) 8 all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277) ACTATCAGCAGCTGAAGCGCC 0.527 NA 7 25 8.12818e-05 0.000101263 0.001984 1 0 LRRC28 123355 broad.mit.edu 37 15 99901651 99901651 + Missense_Mutation SNP A A G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr15:99901651A>G uc002bva.1 + 8 961 c.806A>G c.(805-807)CAC>CGC p.H269R LRRC28_uc010urs.1_RNA|LRRC28_uc002bvb.1_Missense_Mutation_p.H115R|LRRC28_uc010urt.1_Missense_Mutation_p.H83R|LRRC28_uc002bvc.1_Missense_Mutation_p.H269R|LRRC28_uc010uru.1_Missense_Mutation_p.H200R|LRRC28_uc002bvd.1_Intron NM_144598 NP_653199 Q86X40 LRC28_HUMAN leucine rich repeat containing 28 269 0 Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163) OV - Ovarian serous cystadenocarcinoma(32;0.00106) GAGCATGATCACGTCCTCCCT 0.507 NA OREG0023509 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 32 80 0 0 0.002096 0 0 LASS3 204219 broad.mit.edu 37 15 101024836 101024836 + Missense_Mutation SNP G G C rs138661052 byFrequency TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr15:101024836G>C uc002bvz.2 - 6 828 c.326C>G c.(325-327)ACG>AGG p.T109R LASS3_uc002bwa.2_Missense_Mutation_p.T120R|LASS3_uc002bwb.2_Missense_Mutation_p.T109R NM_178842 NP_849164 Q8IU89 CERS3_HUMAN LAG1 longevity assurance homolog 3 109 Homeobox. endoplasmic reticulum membrane|integral to membrane|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity ovary(2)|pancreas(1)|skin(1) 4 Lung NSC(78;0.0018)|all_lung(78;0.00278)|Melanoma(26;0.00852) OV - Ovarian serous cystadenocarcinoma(32;0.000867)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161) CTGGCGCTCCGTCAAGTTACA 0.478 NSCLC(135;1149 2482 10680 49908) NA 9 18 0 0 0.004482 0 0 POLR3K 51728 broad.mit.edu 37 16 101609 101609 + Missense_Mutation SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr16:101609C>G uc002cfi.1 - 2 187 c.148G>C c.(148-150)GAT>CAT p.D50H SNRNP25_uc002cfj.3_5'Flank NM_016310 NP_057394 Q9Y2Y1 RPC10_HUMAN DNA directed RNA polymerase III polypeptide K 50 innate immune response|response to virus|transcription from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity|zinc ion binding 0 all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239) AGCACATCATCCACTTCTTTC 0.443 NA 5 50 0 0 0.000602 0 0 RHBDF1 64285 broad.mit.edu 37 16 111616 111616 + Silent SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr16:111616G>A uc002cfl.3 - 12 1435 c.1287C>T c.(1285-1287)CCC>CCT p.P429P RHBDF1_uc010uty.1_Silent_p.P452P|RHBDF1_uc010utz.1_Silent_p.P429P|RHBDF1_uc010bqo.1_RNA NM_022450 NP_071895 Q96CC6 RHDF1_HUMAN rhomboid family 1 429 Helical; (Potential). cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane growth factor binding|serine-type endopeptidase activity ovary(1)|pancreas(1) 2 all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159) AGAAGCCCACGGGCGCGATGC 0.667 NA 20 37 0 0 0.001523 0 0 MSLNL 401827 broad.mit.edu 37 16 830355 830355 + Missense_Mutation SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr16:830355G>A uc002cjz.1 - 3 646 c.646C>T c.(646-648)CAT>TAT p.H216Y NM_001025190 NP_001020361 Q96KJ4 MSLNL_HUMAN mesothelin-like Error:Variant_position_missing_in_Q96KJ4_after_alignment cell adhesion integral to membrane breast(3)|ovary(1) 4 GGTGGAGCATGCACAGGCGTG 0.602 NA 9 23 0 0 0.004482 0 0 SSTR5 6755 broad.mit.edu 37 16 1129561 1129561 + Silent SNP G G A rs35804776 byFrequency TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr16:1129561G>A uc002ckq.2 + 1 781 c.693G>A c.(691-693)GCG>GCA p.A231A LOC146336_uc002cko.2_5'Flank|LOC146336_uc002ckp.1_5'Flank NM_001053 NP_001044 P35346 SSR5_HUMAN somatostatin receptor 5 231 Cytoplasmic (Potential). negative regulation of cell proliferation integral to plasma membrane somatostatin receptor activity lung(1) 1 Hepatocellular(780;0.00369) Octreotide(DB00104) TGAGGGCGGCGGGCGTGCGCG 0.667 NA 9 20 0 0 0.004482 0 0 C16orf91 283951 broad.mit.edu 37 16 1479269 1479269 + Nonsense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr16:1479269G>T uc010uvd.1 - 1 77 c.77C>A c.(76-78)TCG>TAG p.S26* NM_001010878 NP_001010878 Q4G0I0 CSMT1_HUMAN hypothetical protein LOC283951 Error:Variant_position_missing_in_Q4G0I0_after_alignment integral to membrane 0 TGGCTGTGCCGATGCTGTCCC 0.657 NA 8 113 0.00307968 0.00357786 0.00308 1 0 ZSCAN10 84891 broad.mit.edu 37 16 3142715 3142715 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr16:3142715G>T uc002ctv.1 - 1 147 c.59C>A c.(58-60)CCG>CAG p.P20Q ZSCAN10_uc002cty.1_Intron|ZSCAN10_uc002ctw.1_Silent_p.A27A|ZSCAN10_uc002ctx.1_5'UTR NM_032805 NP_116194 Q96SZ4 ZSC10_HUMAN zinc finger and SCAN domain containing 10 20 SCAN box. negative regulation of transcription, DNA-dependent|viral reproduction nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 GTGCAGAGCCGGCCGCAGCCA 0.672 NA 6 18 0.00198382 0.00231877 0.001984 1 0 BTBD12 84464 broad.mit.edu 37 16 3639743 3639743 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr16:3639743C>A uc002cvp.2 - 12 4523 c.3896G>T c.(3895-3897)AGG>ATG p.R1299M NM_032444 NP_115820 Q8IY92 SLX4_HUMAN BTB (POZ) domain containing 12 1299 Interaction with PLK1 and TERF2-TERF2IP. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding 0 GTTCCCTTCCCTGTTTCCTAC 0.612 NA Direct_reversal_of_damage|Homologous_recombination FanconAnemia 14 103 6.31663e-08 9.24099e-08 0.003163 1 0 GLIS2 84662 broad.mit.edu 37 16 4385127 4385127 + Missense_Mutation SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr16:4385127G>A uc002cwc.1 + 4 646 c.589G>A c.(589-591)GAG>AAG p.E197K NM_032575 NP_115964 Q9BZE0 GLIS2_HUMAN GLIS family zinc finger 2 197 cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development cytoplasm|nuclear speck RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|transcription regulatory region DNA binding|zinc ion binding 0 TGTCAAGCCCGAGAAGGATGC 0.612 NA 9 55 0 0 0.004482 0 0 ANKS3 124401 broad.mit.edu 37 16 4747383 4747383 + Missense_Mutation SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr16:4747383C>G uc002cxj.1 - 16 2140 c.1845G>C c.(1843-1845)ATG>ATC p.M615I ANKS3_uc010uxr.1_Missense_Mutation_p.M138I|ANKS3_uc002cxh.1_RNA|ANKS3_uc002cxi.1_Missense_Mutation_p.M542I|ANKS3_uc002cxk.2_Missense_Mutation_p.M486I|ANKS3_uc002cxl.2_Missense_Mutation_p.M442I|ANKS3_uc010uxs.1_Missense_Mutation_p.M542I NM_133450 NP_597707 Q6ZW76 ANKS3_HUMAN ankyrin repeat and sterile alpha motif domain 615 0 CGGGGAGGCTCATGGCCTGCA 0.642 NA 5 56 0 0 0.001168 0 0 GRIN2A 2903 broad.mit.edu 37 16 9858247 9858247 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr16:9858247G>T uc002czo.3 - 13 3702 c.3154C>A c.(3154-3156)CTT>ATT p.L1052I GRIN2A_uc010uym.1_Missense_Mutation_p.L1052I|GRIN2A_uc010uyn.1_Missense_Mutation_p.L895I|GRIN2A_uc002czr.3_Missense_Mutation_p.L1052I NM_001134407 NP_001127879 Q12879 NMDE1_HUMAN N-methyl-D-aspartate receptor subunit 2A isoform 1052 Cytoplasmic (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1) 45 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TCTTCTGGAAGATACCTAGGG 0.507 NA 50 112 7.05377e-20 1.35332e-19 0.00361 1 0 MKL2 57496 broad.mit.edu 37 16 14355224 14355224 + Missense_Mutation SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr16:14355224C>G uc010uza.1 + 17 3378 c.3223C>G c.(3223-3225)CCT>GCT p.P1075A MKL2_uc002dcg.2_Missense_Mutation_p.P1025A|MKL2_uc002dcj.2_Missense_Mutation_p.P320A NM_014048 NP_054767 Q9ULH7 MKL2_HUMAN megakaryoblastic leukemia 2 protein 1064 cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent identical protein binding|nucleic acid binding|transcription coactivator activity ovary(3)|kidney(1)|pancreas(1) 5 AGGACTCACTCCTCTCAGCAC 0.527 NA 4 41 0 0 0.000248 0 0 GPR139 124274 broad.mit.edu 37 16 20043246 20043247 + Missense_Mutation DNP CC CC AA rs144836581 TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr16:20043246_20043247CC>AA uc002dgu.1 - 2 1034_1035 c.872_873GG>TT c.(871-873)CGG>CTT p.R291L GPR139_uc010vaw.1_Missense_Mutation_p.R198L NM_001002911 NP_001002911 Q6DWJ6 GP139_HUMAN G protein-coupled receptor 139 291 Cytoplasmic (Potential). integral to membrane|plasma membrane ovary(2) 2 TGGTGCGGAACCGCTTGCTGAT 0.505 NA 28 84 0 0 0.004672 0 0 ACSM2B 348158 broad.mit.edu 37 16 20565129 20565129 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr16:20565129C>A uc002dhj.3 - 6 920 c.710G>T c.(709-711)AGC>ATC p.S237I ACSM2B_uc002dhk.3_Missense_Mutation_p.S237I|ACSM2B_uc010bwf.1_Missense_Mutation_p.S237I NM_182617 NP_872423 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 237 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding skin(3)|ovary(1)|central_nervous_system(1) 5 GAGGCCCAGGCTCGAGTAGGA 0.507 NA 6 72 1.12685e-05 1.48953e-05 0.004482 1 0 ANKS4B 257629 broad.mit.edu 37 16 21261469 21261469 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr16:21261469C>A uc010bwp.1 + 2 625 c.582C>A c.(580-582)TTC>TTA p.F194L CRYM_uc010bwq.1_Intron NM_145865 NP_665872 Q8N8V4 ANS4B_HUMAN harmonin-interacting ankyrin-repeat containing 194 ovary(2) 2 GBM - Glioblastoma multiforme(48;0.0565) CTGGCACATTCGGGTCACTAT 0.493 NA 20 55 1.87028e-06 2.58414e-06 0.001882 1 0 OTOA 146183 broad.mit.edu 37 16 21730494 21730494 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr16:21730494G>T uc002djh.2 + 15 1671 c.1670G>T c.(1669-1671)AGG>ATG p.R557M uc002diq.3_Intron|OTOA_uc010vbj.1_Missense_Mutation_p.R478M|OTOA_uc002dji.2_Missense_Mutation_p.R233M|OTOA_uc010vbk.1_Missense_Mutation_p.R205M NM_144672 NP_653273 Q7RTW8 OTOAN_HUMAN otoancorin isoform 1 571 sensory perception of sound anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix ovary(1)|central_nervous_system(1)|skin(1) 3 GBM - Glioblastoma multiforme(48;0.0414) ACCACCAGAAGGCCTGAGGAG 0.527 NA 16 47 1.37522e-17 2.56874e-17 0.007413 1 0 POLR3E 55718 broad.mit.edu 37 16 22326444 22326444 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr16:22326444G>T uc002dkk.2 + 9 713 c.557G>T c.(556-558)CGC>CTC p.R186L POLR3E_uc002dkj.1_Missense_Mutation_p.R186L|POLR3E_uc002dkm.2_Missense_Mutation_p.R150L|POLR3E_uc010vbr.1_Missense_Mutation_p.R186L|POLR3E_uc002dkl.2_Missense_Mutation_p.R186L|POLR3E_uc010vbs.1_Missense_Mutation_p.R150L|POLR3E_uc010vbt.1_Missense_Mutation_p.R130L NM_018119 NP_060589 Q9NVU0 RPC5_HUMAN RNA polymerase III polypeptide E 186 innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA-directed RNA polymerase activity ovary(1)|central_nervous_system(1) 2 GBM - Glioblastoma multiforme(48;0.012) GAGCAGGCCCGCCAGCGCCGT 0.647 NA 5 12 3.59834e-05 4.57629e-05 0.001168 1 0 TAOK2 9344 broad.mit.edu 37 16 29997020 29997020 + Silent SNP C C T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr16:29997020C>T uc002dva.1 + 15 2613 c.1830C>T c.(1828-1830)GCC>GCT p.A610A uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Silent_p.A610A|TAOK2_uc002dvc.1_Silent_p.A610A|TAOK2_uc010bzm.1_Silent_p.A617A|TAOK2_uc002dvd.1_Silent_p.A437A NM_016151 NP_057235 Q9UL54 TAOK2_HUMAN TAO kinase 2 isoform 2 610 actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity ovary(1) 1 GGGAGAAGGCCGAGTGGCTGC 0.682 NA 3 13 0 0 0.000248 0 0 SEPT1 1731 broad.mit.edu 37 16 30389945 30389945 + Missense_Mutation SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr16:30389945C>G uc002dxy.2 - 11 1190 c.1003G>C c.(1003-1005)GAG>CAG p.E335Q SEPT1_uc002dxw.2_RNA|SEPT1_uc002dxx.2_Missense_Mutation_p.E160Q NM_052838 NP_443070 Q8WYJ6 SEPT1_HUMAN septin 1 335 cell cycle|cell division microtubule organizing center|septin complex GTP binding|protein binding ovary(1) 1 Colorectal(24;0.193) TCGTCTTTCTCGCGGATCAGC 0.657 NA 4 17 0 0 0.000602 0 0 ITGAM 3684 broad.mit.edu 37 16 31339510 31339510 + Silent SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr16:31339510G>T uc002ebq.2 + 23 2849 c.2751G>T c.(2749-2751)CTG>CTT p.L917L ITGAM_uc002ebr.2_Silent_p.L918L|ITGAM_uc010can.2_Silent_p.L323L NM_000632 NP_000623 P11215 ITAM_HUMAN integrin alpha M isoform 2 precursor 917 Extracellular (Potential). blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity kidney(1) 1 AATTCCAACTGGAGCTGCCGG 0.488 NA 25 61 8.24728e-16 1.49073e-15 0.004656 1 0 ITGAX 3687 broad.mit.edu 37 16 31391338 31391338 + Silent SNP A A T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr16:31391338A>T uc002ebu.1 + 26 3079 c.3012A>T c.(3010-3012)GCA>GCT p.A1004A ITGAX_uc002ebt.2_Silent_p.A1004A NM_000887 NP_000878 P20702 ITAX_HUMAN integrin alpha X precursor 1004 Extracellular (Potential). blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 AGAAAATCGCACCCCCAGCAT 0.577 NA 4 37 0 0 0.000602 0 0 C16orf78 123970 broad.mit.edu 37 16 49433132 49433132 + Silent SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr16:49433132C>A uc002efr.2 + 5 784 c.741C>A c.(739-741)GTC>GTA p.V247V NM_144602 NP_653203 Q8WTQ4 CP078_HUMAN hypothetical protein LOC123970 247 central_nervous_system(1) 1 CCCACATGGTCGAAGAGGACA 0.498 NA 12 38 2.27111e-07 3.25171e-07 0.001368 1 0 RBL2 5934 broad.mit.edu 37 16 53501044 53501044 + Silent SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr16:53501044G>T uc002ehi.3 + 14 2056 c.1938G>T c.(1936-1938)GTG>GTT p.V646V RBL2_uc010vgv.1_Silent_p.V572V|RBL2_uc002ehj.2_Silent_p.V356V|RBL2_uc010vgw.1_Intron NM_005611 NP_005602 Q08999 RBL2_HUMAN retinoblastoma-like 2 (p130) 646 Spacer.|Pocket; binds E1A. cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding ovary(2)|lung(2)|upper_aerodigestive_tract(1) 5 CCAGAAGGGTGACTGAAGTTC 0.418 NA 9 100 2.17888e-05 2.81911e-05 0.006214 1 0 GPR56 9289 broad.mit.edu 37 16 57689862 57689862 + Silent SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr16:57689862C>G uc002emb.2 + 8 1267 c.975C>G c.(973-975)CTC>CTG p.L325L GPR56_uc002elz.1_Silent_p.L155L|GPR56_uc002ema.1_Silent_p.L150L|GPR56_uc002emc.2_Silent_p.L325L|GPR56_uc002emf.2_Silent_p.L325L|GPR56_uc010vhs.1_Silent_p.L325L|GPR56_uc002emd.2_Silent_p.L325L|GPR56_uc002eme.2_Silent_p.L325L|GPR56_uc010vht.1_Silent_p.L330L|GPR56_uc002emg.3_Silent_p.L325L|GPR56_uc010vhu.1_Silent_p.L150L NM_005682 NP_005673 Q9Y653 GPR56_HUMAN G protein-coupled receptor 56 isoform a 325 Extracellular (Potential). brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway integral to plasma membrane G-protein coupled receptor activity 0 TAGCCAACCTCACGGAGCCCG 0.567 NA 4 108 0 0 0.000248 0 0 MMP15 4324 broad.mit.edu 37 16 58073844 58073844 + Missense_Mutation SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr16:58073844G>A uc002ena.2 + 4 1479 c.506G>A c.(505-507)CGC>CAC p.R169H NM_002428 NP_002419 P51511 MMP15_HUMAN matrix metalloproteinase 15 preproprotein 169 Extracellular (Potential). protein modification process|proteolysis extracellular matrix|integral to plasma membrane calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding central_nervous_system(2)|breast(1) 3 AGGGCCTTCCGCGTGTGGGAG 0.637 NA 10 20 0 0 0.008291 0 0 FHOD1 29109 broad.mit.edu 37 16 67264340 67264340 + Missense_Mutation SNP G G C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr16:67264340G>C uc002esl.2 - 19 3040 c.2928C>G c.(2926-2928)TTC>TTG p.F976L FHOD1_uc002esk.2_Missense_Mutation_p.F35L|FHOD1_uc010ced.2_Missense_Mutation_p.F783L NM_013241 NP_037373 Q9Y613 FHOD1_HUMAN formin homology 2 domain containing 1 976 FH2. actin cytoskeleton organization cytoplasm|cytoskeleton|nucleus actin binding breast(2)|ovary(1) 3 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434) GCGTGTGGCAGAACTGCATGA 0.592 NA 6 51 0 0 0.001168 0 0 NFATC3 4775 broad.mit.edu 37 16 68156673 68156673 + Missense_Mutation SNP C C T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr16:68156673C>T uc002evo.1 + 2 1097 c.887C>T c.(886-888)TCA>TTA p.S296L NFATC3_uc010vkl.1_5'UTR|NFATC3_uc010vkm.1_5'UTR|NFATC3_uc010vkn.1_5'UTR|NFATC3_uc010vko.1_5'UTR|NFATC3_uc010vkp.1_5'UTR|NFATC3_uc010vkq.1_5'UTR|NFATC3_uc002evl.2_Intron|NFATC3_uc002evk.2_Missense_Mutation_p.S296L|NFATC3_uc002evm.1_Missense_Mutation_p.S296L|NFATC3_uc002evn.1_Missense_Mutation_p.S296L|NFATC3_uc010vkr.1_5'UTR|NFATC3_uc010vks.1_5'UTR|NFATC3_uc010vkt.1_5'UTR|NFATC3_uc010vku.1_5'UTR|NFATC3_uc010vkv.1_5'UTR|NFATC3_uc010vkw.1_5'UTR|NFATC3_uc010vkx.1_5'UTR|NFATC3_uc010vky.1_5'UTR|NFATC3_uc010vkz.1_5'UTR|NFATC3_uc010vla.1_5'UTR|NFATC3_uc010vlb.1_5'UTR|NFATC3_uc010vlc.1_5'UTR NM_173165 NP_775188 Q12968 NFAC3_HUMAN nuclear factor of activated T-cells, 296 3 X SP repeats.|3. inflammatory response|transcription from RNA polymerase II promoter nucleolus|plasma membrane DNA binding upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 3 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24) CCTGTTCCTTCACCTGGTCAC 0.557 NA 24 43 0 0 0.005443 0 0 PDPR 55066 broad.mit.edu 37 16 70170214 70170214 + Missense_Mutation SNP C C T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr16:70170214C>T uc002eyf.1 + 10 2072 c.1115C>T c.(1114-1116)TCT>TTT p.S372F CLEC18C_uc002exy.2_Intron|PDPR_uc010vlr.1_Missense_Mutation_p.S272F|PDPR_uc002eyg.1_Missense_Mutation_p.S100F NM_017990 NP_060460 Q8NCN5 PDPR_HUMAN pyruvate dehydrogenase phosphatase regulatory 372 glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix aminomethyltransferase activity|oxidoreductase activity breast(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.124) ATGGGCGAGTCTCCTGCAGTG 0.512 NA 5 39 0 0 0.001984 0 0 WDR59 79726 broad.mit.edu 37 16 74927676 74927676 + Nonsense_Mutation SNP G G C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr16:74927676G>C uc002fdh.1 - 19 2003 c.1901C>G c.(1900-1902)TCA>TGA p.S634* WDR59_uc002fdf.1_Nonsense_Mutation_p.S79*|WDR59_uc002fdg.1_Nonsense_Mutation_p.S226* NM_030581 NP_085058 Q6PJI9 WDR59_HUMAN WD repeat domain 59 634 ovary(1)|breast(1) 2 GCCAGAGTCTGATCCCTCACG 0.478 NA 3 74 0 0 0.000248 0 0 CHST5 23563 broad.mit.edu 37 16 75563281 75563281 + Silent SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr16:75563281G>A uc002fei.2 - 3 2397 c.1002C>T c.(1000-1002)ATC>ATT p.I334I CHST5_uc002fej.1_Silent_p.I340I NM_024533 NP_078809 Q9GZS9 CHST5_HUMAN carbohydrate (N-acetylglucosamine 6-O) 334 Lumenal (Potential). N-acetylglucosamine metabolic process|protein sulfation integral to membrane|intrinsic to Golgi membrane N-acetylglucosamine 6-O-sulfotransferase activity 0 TTGGCTTGCCGATCCCCGACC 0.642 NA 15 50 0 0 0.003163 0 0 SMG6 23293 broad.mit.edu 37 17 2203274 2203274 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr17:2203274C>A uc002fub.1 - 2 828 c.773G>T c.(772-774)AGC>ATC p.S258I SMG6_uc002fud.1_Missense_Mutation_p.S227I NM_017575 NP_060045 Q86US8 EST1A_HUMAN Smg-6 homolog, nonsense mediated mRNA decay 258 Interaction with telomeric DNA. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding central_nervous_system(2)|lung(1)|kidney(1) 4 TGAGCTGGTGCTGCGCGTGCG 0.657 Melanoma(59;28 1088 11621 25887 46638 50814) NA 14 28 9.05144e-12 1.51572e-11 0.001855 1 0 OR1E1 8387 broad.mit.edu 37 17 3300867 3300867 + Missense_Mutation SNP C C T rs144219652 by1000genomes TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr17:3300867C>T uc002fvj.1 - 1 838 c.838G>A c.(838-840)GTG>ATG p.V280M NM_003553 NP_003544 P30953 OR1E1_HUMAN olfactory receptor, family 1, subfamily E, 280 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GGGGTCACCACAGTGTACATC 0.458 NA 18 58 0 0 0.007413 0 0 P2RX1 5023 broad.mit.edu 37 17 3819461 3819461 + Missense_Mutation SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr17:3819461C>G uc002fww.2 - 1 500 c.59G>C c.(58-60)CGC>CCC p.R20P P2RX1_uc010ckm.1_5'UTR NM_002558 NP_002549 P51575 P2RX1_HUMAN purinergic receptor P2X1 20 Cytoplasmic (Potential). platelet activation integral to plasma membrane calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity ovary(1)|skin(1) 2 LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173) CAGCACCATGCGGGGGGTGTC 0.652 NA 38 70 0 0 0.007835 0 0 RPAIN 84268 broad.mit.edu 37 17 5335888 5335888 + Silent SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr17:5335888C>G uc002gbq.2 + 7 1227 c.657C>G c.(655-657)CTC>CTG p.L219L RPAIN_uc010vtb.1_3'UTR|RPAIN_uc002gbs.2_Silent_p.L235L|RPAIN_uc002gbt.2_Silent_p.L172L|RPAIN_uc002gbu.2_Silent_p.L188L|RPAIN_uc002gbv.2_RNA|RPAIN_uc002gbr.2_RNA|RPAIN_uc002gbw.2_3'UTR NM_001033002 NP_001028174 Q86UA6 RIP_HUMAN RPA interacting protein isoform b 219 DNA recombination|DNA repair|DNA-dependent DNA replication|protein import into nucleus|response to UV cytoplasm|cytoplasm|nucleolus|PML body|PML body metal ion binding|protein complex binding 0 CTGTGATCCTCTAGAGCCAGC 0.368 NA 4 58 0 0 0.000248 0 0 AIPL1 23746 broad.mit.edu 37 17 6330023 6330023 + Silent SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr17:6330023C>A uc002gcp.2 - 5 791 c.696G>T c.(694-696)CTG>CTT p.L232L AIPL1_uc002gcq.2_Silent_p.L172L|AIPL1_uc002gcr.2_Silent_p.L169L|AIPL1_uc010clk.2_Silent_p.L210L|AIPL1_uc010cll.2_Intron|AIPL1_uc002gcs.2_Silent_p.L232L NM_014336 NP_055151 Q9NZN9 AIPL1_HUMAN aryl hydrocarbon receptor interacting 232 TPR 2. protein farnesylation|protein folding|visual perception cytoplasm|nucleus farnesylated protein binding|unfolded protein binding 0 COAD - Colon adenocarcinoma(228;0.141) AGTTGAGGATCAGAGTATTGA 0.582 NA 10 20 3.86212e-05 4.87942e-05 0.008291 1 0 PITPNM3 83394 broad.mit.edu 37 17 6358908 6358908 + Missense_Mutation SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr17:6358908G>A uc002gdd.3 - 20 2826 c.2675C>T c.(2674-2676)TCA>TTA p.S892L PITPNM3_uc010cln.2_Missense_Mutation_p.S856L|PITPNM3_uc010clm.2_Missense_Mutation_p.S375L|PITPNM3_uc002gdc.3_Missense_Mutation_p.S483L NM_031220 NP_112497 Q9BZ71 PITM3_HUMAN PITPNM family member 3 isoform 1 892 phosphatidylinositol metabolic process endomembrane system|integral to membrane calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding ovary(2)|central_nervous_system(2) 4 Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185) CTTTGGGCGTGAGCGGTGGCT 0.532 NA 6 27 0 0 0.001168 0 0 TP53 7157 broad.mit.edu 37 17 7577507 7577507 + Missense_Mutation SNP T T A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr17:7577507T>A uc002gim.2 - 7 968 c.774A>T c.(772-774)GAA>GAT p.E258D TP53_uc002gig.1_Missense_Mutation_p.E258D|TP53_uc002gih.2_Missense_Mutation_p.E258D|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.E126D|TP53_uc010cng.1_Missense_Mutation_p.E126D|TP53_uc002gii.1_Missense_Mutation_p.E126D|TP53_uc010cnh.1_Missense_Mutation_p.E258D|TP53_uc010cni.1_Missense_Mutation_p.E258D|TP53_uc002gij.2_Missense_Mutation_p.E258D|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.E165D|TP53_uc002gio.2_Missense_Mutation_p.E126D NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 258 |Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). E -> Q (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> A (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> D (in sporadic cancers; 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.E258K(37)|p.E258*(12)|p.E258Q(8)|p.E258D(8)|p.0?(7)|p.E258G(7)|p.E258V(5)|p.E258A(5)|p.D259fs*5(1)|p.?(1)|p.E258fs*85(1)|p.E258>XX(1)|p.E258fs*71(1)|p.D259fs*86(1)|p.E258fs*2(1)|p.E258_S260delEDS(1)|p.E258del(1)|p.E258L(1)|p.E258fs*87(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) ACCTGGAGTCTTCCAGTGTGA 0.577 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) 18 21 0 0 0.006122 0 0 PER1 5187 broad.mit.edu 37 17 8050243 8050243 + Silent SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr17:8050243G>A uc002gkd.2 - 14 1945 c.1707C>T c.(1705-1707)GCC>GCT p.A569A PER1_uc010vuq.1_RNA|PER1_uc010vur.1_Silent_p.A553A NM_002616 NP_002607 O15534 PER1_HUMAN period 1 569 circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity lung(2)|breast(2)|skin(2)|large_intestine(1)|ovary(1)|kidney(1) 9 ACTGAGGCCGGGCCCGAGACT 0.587 NA T ETV6 AML|CMML Other_conserved_DNA_damage_response_genes 52 95 0 0 0.00361 0 0 MYH13 8735 broad.mit.edu 37 17 10265707 10265707 + Silent SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr17:10265707G>A uc002gmk.1 - 4 408 c.318C>T c.(316-318)CTC>CTT p.L106L NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN myosin, heavy polypeptide 13, skeletal muscle 106 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|skin(2) 6 AGCGCTCTTTGAGGTTGTACA 0.443 NA 10 120 0 0 0.000978 0 0 MYH1 4619 broad.mit.edu 37 17 10419569 10419569 + Nonsense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr17:10419569C>A uc002gmo.2 - 4 389 c.295G>T c.(295-297)GAG>TAG p.E99* uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 99 Myosin head-like. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1) 21 ACAGCAGGCTCGTGTAGATGA 0.473 NA 41 103 3.09479e-21 6.00621e-21 0.006999 1 0 C17orf63 55731 broad.mit.edu 37 17 27085330 27085330 + Silent SNP T T A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr17:27085330T>A uc002hct.1 - 3 1914 c.1647A>T c.(1645-1647)ACA>ACT p.T549T C17orf63_uc010wax.1_Silent_p.T549T|C17orf63_uc010way.1_Silent_p.T549T|C17orf63_uc002hcw.2_Silent_p.T421T NM_018182 NP_060652 Q8WU58 CQ063_HUMAN hypothetical protein LOC55731 549 ovary(1) 1 all_epithelial(6;5.06e-20)|Lung NSC(42;0.01) Epithelial(11;3.38e-06)|all cancers(11;2.46e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.104) TTCGACTCTCTGTGGGATCGG 0.567 NA 11 31 0 0 0.001368 0 0 RAB11FIP4 84440 broad.mit.edu 37 17 29850980 29850980 + Missense_Mutation SNP A A C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr17:29850980A>C uc002hgn.1 + 9 1328 c.1099A>C c.(1099-1101)AAG>CAG p.K367Q RAB11FIP4_uc002hgo.2_Missense_Mutation_p.K265Q NM_032932 NP_116321 Q86YS3 RFIP4_HUMAN RAB11 family interacting protein 4 (class II) 367 Potential.|Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization. cytokinesis|interspecies interaction between organisms|protein transport cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding skin(1) 1 all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066) CCTGAAGAGCAAGCTGAAGCA 0.612 NA 6 21 0 0 0.001168 0 0 UNC45B 146862 broad.mit.edu 37 17 33501326 33501326 + Silent SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr17:33501326G>T uc002hja.2 + 14 1999 c.1902G>T c.(1900-1902)CTG>CTT p.L634L UNC45B_uc002hjb.2_Silent_p.L632L|UNC45B_uc002hjc.2_Silent_p.L632L|UNC45B_uc010cto.2_Silent_p.L553L NM_173167 NP_775259 Q8IWX7 UN45B_HUMAN cardiomyopathy associated 4 isoform 1 634 cell differentiation|muscle organ development cytosol binding ovary(3)|central_nervous_system(2)|breast(1) 6 Ovarian(249;0.17) TCTCTGCCCTGGCTTGCATGG 0.567 NA 33 97 3.11337e-16 5.71211e-16 0.002836 1 0 AATF 26574 broad.mit.edu 37 17 35310239 35310239 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr17:35310239G>T uc002hni.2 + 3 588 c.337G>T c.(337-339)GGT>TGT p.G113C AATF_uc002hnj.2_RNA NM_012138 NP_036270 Q9NY61 AATF_HUMAN apoptosis antagonizing transcription factor 113 Glu-rich. anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus centrosome|focal adhesion|nucleolus leucine zipper domain binding|sequence-specific DNA binding transcription factor activity 0 Breast(25;0.00607) AGAGGGACTGGGTCTGGAGGA 0.483 NSCLC(49;901 1159 19183 41572 46244) NA 16 66 0.000422831 0.000509294 0.004007 1 0 MRPL45 84311 broad.mit.edu 37 17 36478458 36478458 + Nonsense_Mutation SNP C C T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr17:36478458C>T uc002hpy.2 + 8 1053 c.901C>T c.(901-903)CAG>TAG p.Q301* NM_032351 NP_115727 Q9BRJ2 RM45_HUMAN mitochondrial ribosomal protein L45 precursor 301 intracellular protein transport|translation mitochondrial inner membrane presequence translocase complex|ribosome P-P-bond-hydrolysis-driven protein transmembrane transporter activity|structural constituent of ribosome 0 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) AGGAGAGGCCCAGAAGCCTCA 0.527 NA OREG0024353 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 29 0 0 0.000978 0 0 FBXL20 84961 broad.mit.edu 37 17 37453402 37453402 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr17:37453402C>A uc010wed.1 - 6 597 c.376G>T c.(376-378)GGG>TGG p.G126W FBXL20_uc002hrt.2_Missense_Mutation_p.G126W|FBXL20_uc010cvu.2_Missense_Mutation_p.G126W NM_032875 NP_116264 Q96IG2 FXL20_HUMAN F-box and leucine-rich repeat protein 20 126 LRR 2. cytoplasm ovary(1) 1 LUAD - Lung adenocarcinoma(14;0.146) TTTGTACACCCATTTAGATTC 0.368 NA 7 48 0.000274275 0.000331549 0.004482 1 0 KRT20 54474 broad.mit.edu 37 17 39036369 39036369 + Missense_Mutation SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr17:39036369C>G uc002hvl.2 - 4 817 c.775G>C c.(775-777)GAA>CAA p.E259Q NM_019010 NP_061883 P35900 K1C20_HUMAN keratin 20 259 Rod.|Coil 2. apoptosis|intermediate filament organization Golgi apparatus|intermediate filament protein binding|structural constituent of cytoskeleton large_intestine(1)|kidney(1)|skin(1) 3 Breast(137;0.000301)|Ovarian(249;0.15) TCAAACTGTTCTTTGGCCTCT 0.418 NA 4 112 0 0 0.000248 0 0 KRT36 8689 broad.mit.edu 37 17 39645944 39645944 + Missense_Mutation SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr17:39645944C>G uc002hwt.2 - 1 173 c.173G>C c.(172-174)GGC>GCC p.G58A NM_003771 NP_003762 O76013 KRT36_HUMAN keratin 36 58 Head. intermediate filament protein binding|structural constituent of epidermis 0 Breast(137;0.000286) GCTCCCAAGGCCAGAGAGGCC 0.637 NA 17 70 0 0 0.00499 0 0 MPP3 4356 broad.mit.edu 37 17 41895456 41895456 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr17:41895456C>A uc002iei.3 - 12 1070 c.904G>T c.(904-906)GCG>TCG p.A302S MPP3_uc002ieh.2_Missense_Mutation_p.A327S|MPP3_uc002iej.2_RNA|MPP3_uc010czi.1_Missense_Mutation_p.A302S|MPP3_uc010wik.1_Missense_Mutation_p.A327S NM_001932 NP_001923 Q13368 MPP3_HUMAN palmitoylated membrane protein 3 302 signal transduction cell surface|integral to plasma membrane guanylate kinase activity large_intestine(1)|skin(1) 2 Breast(137;0.00394) BRCA - Breast invasive adenocarcinoma(366;0.119) AGGGTGCCCGCGGCTCTCCGG 0.642 NA 3 8 0.00024832 0.000301804 0.000248 1 0 DCAKD 79877 broad.mit.edu 37 17 43111717 43111717 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr17:43111717C>A uc002ihx.2 - 2 410 c.154G>T c.(154-156)GTC>TTC p.V52F DCAKD_uc010daa.1_Missense_Mutation_p.V52F|DCAKD_uc010dab.1_Missense_Mutation_p.V52F|DCAKD_uc002ihy.2_Missense_Mutation_p.V52F NM_024819 NP_079095 Q8WVC6 DCAKD_HUMAN dephospho-CoA kinase domain containing 52 DPCK. coenzyme A biosynthetic process ATP binding|dephospho-CoA kinase activity 0 Prostate(33;0.155) GTGCCGAAGACCTCTACGATG 0.617 NA 6 24 8.12818e-05 0.000101263 0.001984 1 0 NMT1 4836 broad.mit.edu 37 17 43183001 43183001 + Silent SNP A A G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr17:43183001A>G uc002ihz.2 + 12 1503 c.1485A>G c.(1483-1485)CTA>CTG p.L495L NMT1_uc002iia.2_RNA NM_021079 NP_066565 P30419 NMT1_HUMAN N-myristoyltransferase 1 495 activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation actin cytoskeleton|cell junction|cytosol glycylpeptide N-tetradecanoyltransferase activity 0 Prostate(33;0.155) GACTGGTGCTACAATAACCAG 0.512 NA 16 58 0 0 0.00499 0 0 ABCC3 8714 broad.mit.edu 37 17 48734068 48734068 + Silent SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr17:48734068G>T uc002isl.2 + 3 308 c.228G>T c.(226-228)CTG>CTT p.L76L ABCC3_uc002isk.3_Silent_p.L76L NM_003786 NP_003777 O15438 MRP3_HUMAN ATP-binding cassette, sub-family C, member 3 76 Helical; Name=2; (By similarity). bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity skin(3)|central_nervous_system(1) 4 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) CGCAGGTCCTGGGTGTCCTGC 0.597 NA 25 83 8.24728e-16 1.49073e-15 0.004656 1 0 MPO 4353 broad.mit.edu 37 17 56348200 56348200 + Silent SNP C C T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr17:56348200C>T uc002ivu.1 - 12 2232 c.2055G>A c.(2053-2055)GTG>GTA p.V685V NM_000250 NP_000241 P05164 PERM_HUMAN myeloperoxidase 685 anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling extracellular space|lysosome|nucleus|stored secretory granule chromatin binding|heme binding|heparin binding|peroxidase activity ovary(2)|large_intestine(1)|pancreas(1) 4 Cefdinir(DB00535) GCATGCTGAACACACCCTCGT 0.567 NA 6 57 0 0 0.001984 0 0 MARCH10 162333 broad.mit.edu 37 17 60821831 60821831 + Silent SNP T T C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr17:60821831T>C uc010ddr.2 - 5 679 c.441A>G c.(439-441)ACA>ACG p.T147T MARCH10_uc002jag.3_Silent_p.T147T|MARCH10_uc010dds.2_Silent_p.T185T|MARCH10_uc002jah.2_Silent_p.T146T NM_001100875 NP_001094345 Q8NA82 MARHA_HUMAN ring finger protein 190 147 ligase activity|zinc ion binding 0 CTGGGCTGACTGTAAATCTCC 0.478 NA 24 77 0 0 0.00333 0 0 KCNH6 81033 broad.mit.edu 37 17 61607588 61607588 + Silent SNP G G C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr17:61607588G>C uc002jay.2 + 3 524 c.444G>C c.(442-444)CTG>CTC p.L148L KCNH6_uc002jax.1_Silent_p.L148L|KCNH6_uc010wpl.1_Silent_p.L25L|KCNH6_uc010wpm.1_Silent_p.L148L|KCNH6_uc002jaz.1_Silent_p.L148L NM_030779 NP_110406 Q9H252 KCNH6_HUMAN potassium voltage-gated channel, subfamily H, 148 Cytoplasmic (Potential). regulation of transcription, DNA-dependent|signal transduction skin(1) 1 Ibutilide(DB00308) CCCAGCGCCTGTTGTCCCAGA 0.642 NA 6 28 0 0 0.001168 0 0 CSH2 1443 broad.mit.edu 37 17 61949662 61949663 + Missense_Mutation DNP GG GG CT TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr17:61949662_61949663GG>CT uc002jch.2 - 5 592_593 c.477_478CC>AG c.(475-480)CGCCGG>CGAGGG p.R160G CSH2_uc002jcg.2_Missense_Mutation_p.R65G|CSH2_uc002jci.2_3'UTR|GH2_uc002jcj.2_Missense_Mutation_p.A158E|CSH2_uc002jck.2_Missense_Mutation_p.R160G NM_020991 NP_066271 P01243 CSH_HUMAN chorionic somatomammotropin hormone 2 isoform 1 160 female pregnancy|signal transduction extracellular region hormone activity|metal ion binding 0 TGCCCAGTCCGGCGGCTGCCGT 0.55 NA 26 100 0 0 0.004672 0 0 CACNG5 27091 broad.mit.edu 37 17 64873633 64873633 + Silent SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr17:64873633C>A uc010wqi.1 + 2 420 c.183C>A c.(181-183)GTC>GTA p.V61V CACNG5_uc002jfr.2_Silent_p.V61V|CACNG5_uc010wqj.1_Silent_p.V61V NM_145811 NP_665810 Q9UF02 CCG5_HUMAN voltage-dependent calcium channel gamma-5 61 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane voltage-gated calcium channel activity pancreas(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(6;1.61e-08) TCTGGCGGGTCTGCTTCCTTG 0.617 NA 11 23 3.86212e-05 4.87942e-05 0.008291 1 0 ABCA9 10350 broad.mit.edu 37 17 67047243 67047243 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr17:67047243C>A uc002jhu.2 - 2 168 c.25G>T c.(25-27)GGT>TGT p.G9C ABCA9_uc010dez.2_Missense_Mutation_p.G9C|ABCA9_uc002jhv.2_Missense_Mutation_p.G9C NM_080283 NP_525022 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A, member 9 9 transport integral to membrane ATP binding|ATPase activity ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1) 6 Breast(10;1.47e-12) GTTTGCTGACCCACGCTCATG 0.388 NA 8 50 0.000157383 0.000191976 0.00308 1 0 ABCA10 10349 broad.mit.edu 37 17 67190585 67190585 + Missense_Mutation SNP T T G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr17:67190585T>G uc010dfa.1 - 13 2165 c.1286A>C c.(1285-1287)AAT>ACT p.N429T ABCA10_uc010wqt.1_RNA|ABCA10_uc010dfb.1_Missense_Mutation_p.N30T NM_080282 NP_525021 Q8WWZ4 ABCAA_HUMAN ATP-binding cassette, sub-family A, member 10 429 ATP 1 (Potential).|ABC transporter 1. transport integral to membrane ATP binding|ATPase activity ovary(2)|central_nervous_system(1)|skin(1) 4 Breast(10;6.95e-12) ACCAGCTCCATTATGCCCAAG 0.333 NA 17 50 0 0 0.00499 0 0 CD300LB 124599 broad.mit.edu 37 17 72518919 72518919 + Nonsense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr17:72518919G>T uc002jkx.2 - 4 688 c.675C>A c.(673-675)TAC>TAA p.Y225* NM_174892 NP_777552 A8K4G0 CLM7_HUMAN CD300 molecule-like family member b 188 Cytoplasmic (Potential). Y->F: No effect on interaction with TYROBP, but strongly reduces activation properties. integral to membrane|plasma membrane receptor activity ovary(1) 1 AGAAGTTCATGTAGATAGGCT 0.537 NA 15 70 6.72482e-11 1.09472e-10 0.003163 1 0 KCTD2 23510 broad.mit.edu 37 17 73055695 73055695 + Missense_Mutation SNP G G C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr17:73055695G>C uc002jmp.2 + 4 698 c.631G>C c.(631-633)GAA>CAA p.E211Q KCTD2_uc010dfz.2_RNA|KCTD2_uc002jmq.2_RNA NM_015353 NP_056168 Q14681 KCTD2_HUMAN potassium channel tetramerisation domain 211 voltage-gated potassium channel complex voltage-gated potassium channel activity 0 all_lung(278;0.226) CTGGAAATTCGAACAGGTACA 0.537 NA 4 43 0 0 0.000602 0 0 RECQL5 9400 broad.mit.edu 37 17 73662539 73662539 + Silent SNP T T C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr17:73662539T>C uc010dgl.2 - 2 255 c.99A>G c.(97-99)TTA>TTG p.L33L RECQL5_uc010dgk.2_Silent_p.L33L|RECQL5_uc002jpb.1_Silent_p.L33L|RECQL5_uc002joz.3_Silent_p.L33L|RECQL5_uc002jpa.3_Silent_p.L33L|SAP30BP_uc010dgm.1_5'Flank|SAP30BP_uc002jpc.1_5'Flank|SAP30BP_uc010wsf.1_5'Flank|SAP30BP_uc010wsg.1_5'Flank|SAP30BP_uc002jpe.2_5'Flank|SAP30BP_uc002jpf.2_5'Flank NM_004259 NP_004250 O94762 RECQ5_HUMAN RecQ protein-like 5 isoform 1 33 DNA recombination|DNA repair cytoplasm|nuclear membrane|nucleolus|nucleoplasm ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding kidney(3) 3 all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09) all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112) CACTCTCCTGTAAAGGCGTCT 0.483 NA Other_identified_genes_with_known_or_suspected_DNA_repair_function 23 58 0 0 0.00333 0 0 EVPL 2125 broad.mit.edu 37 17 74005011 74005011 + Silent SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr17:74005011G>A uc002jqi.2 - 22 4503 c.4275C>T c.(4273-4275)TTC>TTT p.F1425F EVPL_uc010wss.1_Silent_p.F1447F|EVPL_uc010wst.1_Silent_p.F895F NM_001988 NP_001979 Q92817 EVPL_HUMAN envoplakin 1425 Central fibrous rod domain. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity pancreas(2)|central_nervous_system(1)|skin(1) 4 GGTCCTCCTGGAAGCTGAGCA 0.692 NA 11 61 0 0 0.001855 0 0 DNAH17 8632 broad.mit.edu 37 17 76565498 76565498 + Missense_Mutation SNP T T A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr17:76565498T>A uc002jvv.1 - 4 368 c.262A>T c.(262-264)ACG>TCG p.T88S RecName: Full=Dynein heavy chain 17, axonemal; AltName: Full=Axonemal beta dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain-like protein 1; AltName: Full=Axonemal dynein heavy chain-like protein 1; AltName: Full=Dynein light chain 2, axonemal; ovary(6)|breast(2)|skin(1) 9 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) AAGTCGTACGTCTGGTAGAGC 0.562 NA 4 9 0 0 0.000602 0 0 CCDC137 339230 broad.mit.edu 37 17 79638803 79638803 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr17:79638803G>T uc002kbc.3 + 4 563 c.527G>T c.(526-528)CGA>CTA p.R176L CCDC137_uc002kbd.2_RNA NM_199287 NP_954981 Q6PK04 CC137_HUMAN coiled-coil domain containing 137 176 Potential. central_nervous_system(1) 1 all_neural(118;0.0878)|all_lung(278;0.23)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739) GATAAAGTCCGACGGAAAAAG 0.577 NA 6 73 0.00198382 0.00231877 0.001984 1 0 COLEC12 81035 broad.mit.edu 37 18 321716 321716 + Missense_Mutation SNP C C A rs141957359 TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr18:321716C>A uc002kkm.2 - 9 2370 c.2155G>T c.(2155-2157)GAT>TAT p.D719Y NM_130386 NP_569057 Q5KU26 COL12_HUMAN collectin sub-family member 12 719 Extracellular (Potential).|C-type lectin. Calcium 3.|Carbohydrate; via carbonyl oxygen (By similarity). carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization collagen|integral to membrane galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity ovary(1)|pancreas(1) 2 all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426) CATTGGAAATCGTTCCACTGC 0.483 NA 28 163 5.45727e-16 9.89084e-16 0.008361 1 0 MC2R 4158 broad.mit.edu 37 18 13885436 13885436 + Nonsense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr18:13885436C>A uc002ksp.1 - 2 259 c.82G>T c.(82-84)GAG>TAG p.E28* NM_000529 NP_000520 Q01718 ACTHR_HUMAN melanocortin 2 receptor 28 Helical; Name=1; (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane corticotropin receptor activity|protein binding ovary(4)|skin(1) 5 Corticotropin(DB01285)|Cosyntropin(DB01284) AATATCTCCTCCGGCAAAACC 0.413 Colon(141;1584 1782 35999 48227 48692) NA 9 36 0.00621372 0.00712032 0.006214 1 0 CTAGE1 64693 broad.mit.edu 37 18 19996602 19996602 + Silent SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr18:19996602G>A uc002ktv.1 - 1 1277 c.1173C>T c.(1171-1173)ATC>ATT p.I391I NM_172241 NP_758441 Q96RT6 CTGE2_HUMAN cutaneous T-cell lymphoma-associated antigen 1 391 Potential. integral to membrane ovary(1) 1 all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135) TGGCATGGCTGATCATTTCGT 0.343 NA 16 169 0 0 0.004007 0 0 CTAGE1 64693 broad.mit.edu 37 18 19996730 19996730 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr18:19996730G>T uc002ktv.1 - 1 1149 c.1045C>A c.(1045-1047)CAG>AAG p.Q349K NM_172241 NP_758441 Q96RT6 CTGE2_HUMAN cutaneous T-cell lymphoma-associated antigen 1 349 Potential. integral to membrane ovary(1) 1 all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135) AGTTTCTGCTGAAGCTTCTGA 0.328 NA 18 105 9.16793e-09 1.38968e-08 0.00499 1 0 ZNF521 25925 broad.mit.edu 37 18 22804767 22804767 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr18:22804767C>A uc002kvk.2 - 4 3362 c.3115G>T c.(3115-3117)GGG>TGG p.G1039W ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.G1039W|ZNF521_uc002kvl.2_Missense_Mutation_p.G819W NM_015461 NP_056276 Q96K83 ZN521_HUMAN zinc finger protein 521 1039 C2H2-type 24. cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding ovary(4)|large_intestine(2)|lung(1) 7 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) TGGAACGTCCCATGGATTTTG 0.532 NA T PAX5 ALL 11 28 1.08611e-07 1.56675e-07 0.000978 1 0 ZNF521 25925 broad.mit.edu 37 18 22804769 22804769 + Missense_Mutation SNP T T A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr18:22804769T>A uc002kvk.2 - 4 3360 c.3113A>T c.(3112-3114)CAT>CTT p.H1038L ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.H1038L|ZNF521_uc002kvl.2_Missense_Mutation_p.H818L NM_015461 NP_056276 Q96K83 ZN521_HUMAN zinc finger protein 521 1038 C2H2-type 24. cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding ovary(4)|large_intestine(2)|lung(1) 7 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) GAACGTCCCATGGATTTTGAG 0.537 NA T PAX5 ALL 11 28 0 0 0.000978 0 0 DTNA 1837 broad.mit.edu 37 18 32455254 32455254 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr18:32455254C>A uc010dmn.1 + 17 1715 c.1714C>A c.(1714-1716)CCA>ACA p.P572T DTNA_uc002kxw.2_Missense_Mutation_p.P515T|DTNA_uc010dmj.2_Missense_Mutation_p.P512T|DTNA_uc002kxz.2_Missense_Mutation_p.P519T|DTNA_uc002kxy.2_Missense_Mutation_p.P512T|DTNA_uc010xby.1_Missense_Mutation_p.P262T|DTNA_uc010xbz.1_Missense_Mutation_p.P281T|DTNA_uc010xca.1_Missense_Mutation_p.P224T|DTNA_uc002kye.2_Missense_Mutation_p.P220T NM_001390 NP_001381 Q9Y4J8 DTNA_HUMAN dystrobrevin alpha isoform 1 572 neuromuscular synaptic transmission|signal transduction|striated muscle contraction cell junction|cytoplasm|synapse calcium ion binding|protein binding|zinc ion binding 0 CATCAGCAGGCCAATTCCCAT 0.587 NA 9 34 0.00621372 0.00712032 0.006214 1 0 LIPG 9388 broad.mit.edu 37 18 47101900 47101900 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr18:47101900G>T uc002ldv.2 + 5 985 c.733G>T c.(733-735)GGG>TGG p.G245W LIPG_uc002ldu.1_Missense_Mutation_p.G245W|LIPG_uc010xdh.1_Intron NM_006033 NP_006024 Q9Y5X9 LIPE_HUMAN endothelial lipase precursor 245 cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport extracellular space heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity ovary(1)|skin(1) 2 CTACCCCAATGGGGGTGACTT 0.493 Pancreas(126;280 1778 12814 26243 34948) NA 6 21 0.000157383 0.000191976 0.00308 1 0 MYO5B 4645 broad.mit.edu 37 18 47511162 47511162 + Missense_Mutation SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr18:47511162C>G uc002leb.2 - 8 1160 c.872G>C c.(871-873)GGA>GCA p.G291A MYO5B_uc002lec.1_Missense_Mutation_p.G290A NM_001080467 NP_001073936 Q9ULV0 MYO5B_HUMAN myosin VB 291 Myosin head-like. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity ovary(2)|skin(2)|central_nervous_system(1) 5 READ - Rectum adenocarcinoma(32;0.103) AGTGTCTCCTCCCTGTGATGT 0.522 NA 9 30 0 0 0.004482 0 0 MALT1 10892 broad.mit.edu 37 18 56414758 56414758 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr18:56414758G>T uc002lhm.1 + 17 2417 c.2159G>T c.(2158-2160)GGT>GTT p.G720V MALT1_uc002lhn.1_Missense_Mutation_p.G709V NM_006785 NP_006776 Q9UDY8 MALT1_HUMAN mucosa associated lymphoid tissue lymphoma 720 activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway CBM complex|cytosol|nucleus|perinuclear region of cytoplasm cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity ovary(2)|lung(1)|central_nervous_system(1) 4 ATGCATCGAGGTTTGGGAAGG 0.433 NA T BIRC3 MALT 21 85 2.21704e-12 3.74055e-12 0.00278 1 0 CBLN2 147381 broad.mit.edu 37 18 70209247 70209247 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr18:70209247C>A uc002lku.2 - 2 384 c.149G>T c.(148-150)CGG>CTG p.R50L CBLN2_uc002lkv.2_Missense_Mutation_p.R50L NM_182511 NP_872317 Q8IUK8 CBLN2_HUMAN cerebellin 2 precursor 50 integral to membrane 0 Esophageal squamous(42;0.131) GTTCTGCGCCCGCACGGGGCA 0.602 NA 4 12 3.59834e-05 4.57629e-05 0.001168 1 0 CDC34 997 broad.mit.edu 37 19 537086 537086 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr19:537086G>T uc002lov.2 + 4 635 c.436G>T c.(436-438)GTG>TTG p.V146L NM_004359 NP_004350 P49427 UB2R1_HUMAN ubiquitin-conjugating enzyme Cdc34 146 DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|negative regulation of cAMP-mediated signaling|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination cytoplasm|nucleus ATP binding|protein binding|ubiquitin-protein ligase activity 0 all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGACGCCTCCGTGATGTACAG 0.617 NA 12 53 3.07112e-06 4.16617e-06 0.000978 1 0 POLRMT 5442 broad.mit.edu 37 19 624806 624806 + Silent SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr19:624806C>G uc002lpf.1 - 5 1109 c.1053G>C c.(1051-1053)GTG>GTC p.V351V NM_005035 NP_005026 O00411 RPOM_HUMAN mitochondrial DNA-directed RNA polymerase 351 transcription initiation from mitochondrial promoter mitochondrial nucleoid DNA binding|DNA-directed RNA polymerase activity|protein binding ovary(1)|pancreas(1) 2 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TCACCTTGTGCACGGCCTTCA 0.637 NA 19 42 0 0 0.001882 0 0 TCF3 6929 broad.mit.edu 37 19 1623968 1623968 + Silent SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr19:1623968C>A uc002ltr.2 - 8 598 c.531G>T c.(529-531)CCG>CCT p.P177P TCF3_uc002lto.2_5'Flank|TCF3_uc002ltt.3_Silent_p.P177P|TCF3_uc002ltq.2_Silent_p.P126P|TCF3_uc002lts.1_Silent_p.P93P NM_003200 NP_003191 P15923 TFE2_HUMAN transcription factor 3 isoform E12 177 B cell lineage commitment|B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus|protein complex|transcription factor complex bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding lung(2)|breast(2)|ovary(1)|large_intestine(1)|skin(1) 7 Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GAAGACCCGGCGGGACCTTCC 0.632 NA T PBX1|HLF|TFPT pre B-ALL 7 13 0.00448238 0.00518058 0.004482 1 0 TIMM44 10469 broad.mit.edu 37 19 7997545 7997545 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr19:7997545C>A uc002miz.2 - 9 956 c.954G>T c.(952-954)CAG>CAT p.Q318H TIMM44_uc002mja.2_Missense_Mutation_p.Q58H|TIMM44_uc010dvx.1_RNA NM_006351 NP_006342 O43615 TIM44_HUMAN translocase of inner mitochondrial membrane 44 318 protein targeting to mitochondrion mitochondrial inner membrane presequence translocase complex|mitochondrial matrix ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity ovary(1) 1 CGTTCTCGCACTGTTTCAGAA 0.647 NA 17 30 1.56452e-12 2.64963e-12 0.007413 1 0 FBN3 84467 broad.mit.edu 37 19 8175977 8175977 + Missense_Mutation SNP C C A rs145427911 byFrequency TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr19:8175977C>A uc002mjf.2 - 32 4196 c.4175G>T c.(4174-4176)GGC>GTC p.G1392V NM_032447 NP_115823 Q75N90 FBN3_HUMAN fibrillin 3 precursor 1392 EGF-like 21; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1) 11 GGGGTCAAAGCCCATCTCACA 0.657 NA 7 19 2.0095e-06 2.76512e-06 0.001984 1 0 ZNF823 55552 broad.mit.edu 37 19 11832562 11832562 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr19:11832562C>A uc002msm.2 - 4 1913 c.1787G>T c.(1786-1788)CGT>CTT p.R596L ZNF823_uc010xmd.1_Missense_Mutation_p.R414L|ZNF823_uc010dyi.1_Missense_Mutation_p.R552L NM_001080493 NP_001073962 P16415 ZN823_HUMAN ZFP-36 for a zinc finger protein 596 C2H2-type 16. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 ATGCAAGGAACGGAGAGAACT 0.398 NA HNSCC(68;0.2) 19 51 1.15919e-05 1.52926e-05 0.001216 1 0 PLVAP 83483 broad.mit.edu 37 19 17476209 17476209 + Silent SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr19:17476209C>A uc002ngk.1 - 3 1115 c.1065G>T c.(1063-1065)CGG>CGT p.R355R NM_031310 NP_112600 Q9BX97 PLVAP_HUMAN plasmalemma vesicle associated protein 355 Potential.|Extracellular (Potential). caveola|integral to membrane|perinuclear region of cytoplasm 0 CTCGTTCCTTCCGCAGCACCG 0.617 NA 15 40 6.72482e-11 1.09472e-10 0.003163 1 0 ZNF682 91120 broad.mit.edu 37 19 20117282 20117282 + Silent SNP A A G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr19:20117282A>G uc002noq.2 - 4 1152 c.1029T>C c.(1027-1029)TGT>TGC p.C343C ZNF682_uc002noo.2_Silent_p.C311C|ZNF682_uc002nop.2_Silent_p.C311C|ZNF682_uc010eck.2_Silent_p.C267C NM_033196 NP_149973 O95780 ZN682_HUMAN zinc finger protein 682 isoform 1 343 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 CACATTCTTCACATTTATAGG 0.373 NA 19 37 0 0 0.007413 0 0 CCNE1 898 broad.mit.edu 37 19 30314607 30314607 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr19:30314607G>T uc002nsn.2 + 12 1339 c.1156G>T c.(1156-1158)GCT>TCT p.A386S CCNE1_uc002nso.2_Missense_Mutation_p.A371S|CCNE1_uc002nsp.2_Missense_Mutation_p.A133S NM_001238 NP_001229 P24864 CCNE1_HUMAN cyclin E1 isoform 1 386 androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle cytosol|nucleoplasm androgen receptor binding|protein kinase binding|transcription coactivator activity lung(2) 2 all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195) UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202) ACAAAATAGGGCTTCTCCTCT 0.522 NA 8 53 1.06961e-07 1.55129e-07 0.00308 1 0 ZNF536 9745 broad.mit.edu 37 19 30936469 30936469 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr19:30936469G>T uc002nsu.1 + 2 2138 c.2000G>T c.(1999-2001)GGC>GTC p.G667V ZNF536_uc010edd.1_Missense_Mutation_p.G667V NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 667 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) CTGCACGTGGGCCTGGATGAG 0.697 NA 14 29 1.36491e-13 2.38371e-13 0.001855 1 0 ZNF536 9745 broad.mit.edu 37 19 31039909 31039909 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr19:31039909G>T uc002nsu.1 + 4 3521 c.3383G>T c.(3382-3384)AGT>ATT p.S1128I ZNF536_uc010edd.1_Missense_Mutation_p.S1128I NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 1128 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) GGGGCCTCCAGTTCCTGCCCC 0.547 NA 14 38 3.27435e-08 4.84835e-08 0.00245 1 0 KIRREL2 84063 broad.mit.edu 37 19 36353928 36353928 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr19:36353928G>T uc002ocb.3 + 13 1927 c.1715G>T c.(1714-1716)CGC>CTC p.R572L KIRREL2_uc002obz.3_Missense_Mutation_p.R572L|KIRREL2_uc002oca.3_Missense_Mutation_p.R522L|KIRREL2_uc002occ.3_Missense_Mutation_p.R519L|KIRREL2_uc002ocd.3_Missense_Mutation_p.R534L NM_199180 NP_954649 Q6UWL6 KIRR2_HUMAN kin of IRRE-like 2 isoform c 572 Cytoplasmic (Potential). cell adhesion integral to membrane|plasma membrane ovary(1)|central_nervous_system(1)|skin(1) 3 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) ACAGGCAGCCGCGAGGACCGG 0.577 NA 3 12 6.4e-05 8.03467e-05 0.004672 1 0 ZNF566 84924 broad.mit.edu 37 19 36940320 36940320 + Silent SNP T T C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr19:36940320T>C uc002oea.3 - 5 898 c.816A>G c.(814-816)CGA>CGG p.R272R ZNF566_uc010xte.1_Silent_p.R272R|ZNF566_uc010xtf.1_Silent_p.R273R|ZNF566_uc002oeb.3_Silent_p.R272R|ZNF566_uc002oec.3_Silent_p.R168R|ZNF566_uc010xtg.1_Silent_p.R168R NM_032838 NP_116227 Q969W8 ZN566_HUMAN zinc finger protein 566 isoform 1 272 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(110;0.162) TTCTCTGATGTCGAGTGAAGT 0.423 NA 10 65 0 0 0.008291 0 0 HKR1 284459 broad.mit.edu 37 19 37854289 37854289 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr19:37854289G>T uc002ogb.2 + 6 1861 c.1592G>T c.(1591-1593)GGA>GTA p.G531V HKR1_uc002ofx.2_Missense_Mutation_p.G247V|HKR1_uc002ofy.2_Missense_Mutation_p.G247V|HKR1_uc002oga.2_Missense_Mutation_p.G513V|HKR1_uc010xto.1_Missense_Mutation_p.G513V|HKR1_uc002ogc.2_Missense_Mutation_p.G512V|HKR1_uc010xtp.1_Missense_Mutation_p.G470V|HKR1_uc002ogd.2_Missense_Mutation_p.G470V NM_181786 NP_861451 P10072 HKR1_HUMAN GLI-Kruppel family member HKR1 531 C2H2-type 9. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GCTGAGTGTGGACGAGGCTTT 0.522 NA 20 47 1.9806e-07 2.84182e-07 0.002299 1 0 FAM98C 147965 broad.mit.edu 37 19 38899419 38899419 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr19:38899419G>T uc002oin.1 + 8 966 c.947G>T c.(946-948)GGG>GTG p.G316V FAM98C_uc002oio.1_Missense_Mutation_p.G234V|FAM98C_uc010xtz.1_Silent_p.G182G NM_174905 NP_777565 Q17RN3 FA98C_HUMAN hypothetical protein LOC147965 316 skin(1) 1 all_cancers(60;3.95e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) CCAGACCGGGGGGGCCGCCCA 0.557 NA 10 82 2.17888e-05 2.81911e-05 0.006214 1 0 PAPL 390928 broad.mit.edu 37 19 39591247 39591247 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr19:39591247C>A uc002oki.2 + 6 931 c.657C>A c.(655-657)TTC>TTA p.F219L PAPL_uc010egl.2_Nonsense_Mutation_p.S178* NM_001004318 NP_001004318 Q6ZNF0 PAPL_HUMAN iron/zinc purple acid phosphatase-like protein 219 extracellular region acid phosphatase activity|metal ion binding 0 AGGCTCGCTTCAGCATGCCGG 0.557 NA 29 98 6.19805e-25 1.21696e-24 0.005524 1 0 RPS16 6217 broad.mit.edu 37 19 39924008 39924010 + Missense_Mutation TNP CAT CAT ATA TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 CAT CAT - - CAT CAT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr19:39924008_39924010CAT>ATA uc002olk.2 - 5 427_429 c.344_346ATG>TAT c.(343-348)TATGAC>TTATAC p.115_116YD>LY RPS16_uc002oll.2_Missense_Mutation_p.98_99YD>LY|RPS16_uc002olm.2_Missense_Mutation_p.M147Y NM_001020 NP_001011 P62249 RS16_HUMAN ribosomal protein S16 115_116 endocrine pancreas development|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit protein binding|RNA binding|structural constituent of ribosome skin(1) 1 all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569) Epithelial(26;4.14e-26)|all cancers(26;2.68e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) AGGGTCCGGTCATACTGGATGAG 0.537 NA 10 55 0 0 0.004672 0 0 CYP2B7P1 1556 broad.mit.edu 37 19 41445035 41445035 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr19:41445035G>T uc010ehg.1 + 4 654 c.646G>T c.(646-648)GTC>TTC p.V216F CYP2A7_uc002opo.2_Intron|CYP2B7P1_uc010ehh.1_Splice_Site_p.Q215_splice|CYP2B7P1_uc002opq.2_Splice_Site SubName: Full=Cytochrome P450 2B7 short isoform; SubName: Full=CYP2B protein; ovary(1)|skin(1) 2 ATCCAGCCAGGTCCAGGAGAG 0.507 NA 5 23 3.59834e-05 4.57629e-05 0.001168 1 0 CEACAM4 1089 broad.mit.edu 37 19 42131976 42131976 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr19:42131976G>T uc002orh.1 - 2 534 c.423C>A c.(421-423)CAC>CAA p.H141Q CEACAM4_uc010xwd.1_Missense_Mutation_p.H141Q NM_001817 NP_001808 O75871 CEAM4_HUMAN carcinoembryonic antigen-related cell adhesion 141 Extracellular (Potential). integral to plasma membrane|membrane fraction 0 ATCACTCACGGTGTACGTGGA 0.552 NA 24 108 7.92952e-12 1.32951e-11 0.003954 1 0 ZNF574 64763 broad.mit.edu 37 19 42584394 42584394 + Missense_Mutation SNP A A T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr19:42584394A>T uc002osm.3 + 2 1805 c.1636A>T c.(1636-1638)ACA>TCA p.T546S ZNF574_uc002osk.3_Missense_Mutation_p.T636S NM_022752 NP_073589 Q6ZN55 ZN574_HUMAN zinc finger protein 574 546 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.059) GCTCACACACACAGGAGAGCG 0.652 NA 29 102 0 0 0.00632 0 0 MEGF8 1954 broad.mit.edu 37 19 42855448 42855448 + Silent SNP C C T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr19:42855448C>T uc002otl.3 + 15 3251 c.2616C>T c.(2614-2616)GCC>GCT p.A872A MEGF8_uc002otm.3_Silent_p.A480A NM_001410 NP_001401 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 939 Extracellular (Potential).|PSI 3. integral to membrane calcium ion binding|structural molecule activity ovary(1) 1 Prostate(69;0.00682) GTCGGGGTGCCCTGAAGAGTC 0.677 NA 4 7 0 0 0.000602 0 0 ZNF223 7766 broad.mit.edu 37 19 44570336 44570336 + Missense_Mutation SNP A A G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr19:44570336A>G uc002oyf.1 + 5 608 c.355A>G c.(355-357)ATA>GTA p.I119V ZNF284_uc010ejd.2_RNA NM_013361 NP_037493 Q9UK11 ZN223_HUMAN zinc finger protein 223 119 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Prostate(69;0.0352) AGACTCTACCATAAAGAGCTC 0.473 NA 21 48 0 0 0.001523 0 0 ZNF226 7769 broad.mit.edu 37 19 44679961 44679961 + Missense_Mutation SNP G G C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr19:44679961G>C uc002oyp.2 + 6 690 c.546G>C c.(544-546)CAG>CAC p.Q182H ZNF226_uc002oyq.2_Missense_Mutation_p.Q65H|ZNF226_uc002oyr.2_Missense_Mutation_p.Q65H|ZNF226_uc010ejg.2_3'UTR|ZNF226_uc002oys.2_Missense_Mutation_p.Q182H|ZNF226_uc002oyt.2_Missense_Mutation_p.Q182H NM_001032373 NP_001027545 Q9NYT6 ZN226_HUMAN zinc finger protein 226 isoform a 182 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0352)|all_neural(266;0.202) CTGAGTCACAGAGATTGAACA 0.378 Pancreas(115;581 1665 13228 19278 50070) NA 8 28 0 0 0.004482 0 0 ELSPBP1 64100 broad.mit.edu 37 19 48511980 48511980 + Missense_Mutation SNP A A G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr19:48511980A>G uc002pht.2 + 2 211 c.56A>G c.(55-57)TAT>TGT p.Y19C NM_022142 NP_071425 Q96BH3 ESPB1_HUMAN epididymal sperm binding protein 1 precursor 19 single fertilization extracellular region 0 all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606) CTCTATTCCTATGAGTCAAGT 0.438 NA 8 23 0 0 0.006214 0 0 MED25 81857 broad.mit.edu 37 19 50332242 50332242 + Silent SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr19:50332242G>T uc002ppw.1 + 5 473 c.420G>T c.(418-420)CGG>CGT p.R140R MED25_uc010ybe.1_Intron|MED25_uc002ppx.1_5'Flank NM_030973 NP_112235 Q71SY5 MED25_HUMAN mediator complex subunit 25 140 Interaction with the Mediator complex. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm ovary(1) 1 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122) AGACGCACCGGGTCTGCCTCC 0.562 GBM(51;894 1657 37868) NA 6 25 2.0095e-06 2.76512e-06 0.001984 1 0 CLEC11A 6320 broad.mit.edu 37 19 51228646 51228646 + Silent SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr19:51228646G>T uc002psy.2 + 4 1072 c.894G>T c.(892-894)GCG>GCT p.A298A NM_002975 NP_002966 Q9Y240 CLC11_HUMAN stem cell growth factor precursor 298 C-type lectin. positive regulation of cell proliferation cytoplasm|extracellular region growth factor activity|sugar binding ovary(1) 1 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) ACTGCGTGGCGCAGGCCTCTG 0.721 NA 8 15 0.000673444 0.000798266 0.008291 1 0 SIGLEC10 89790 broad.mit.edu 37 19 51920552 51920552 + Missense_Mutation SNP T T C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr19:51920552T>C uc002pwo.2 - 2 821 c.205A>G c.(205-207)AAG>GAG p.K69E SIGLEC10_uc002pwp.2_Missense_Mutation_p.K69E|SIGLEC10_uc002pwq.2_Missense_Mutation_p.K69E|SIGLEC10_uc002pwr.2_Missense_Mutation_p.K69E|SIGLEC10_uc010ycy.1_Missense_Mutation_p.K69E|SIGLEC10_uc010ycz.1_Missense_Mutation_p.K69E|SIGLEC10_uc010eow.2_Intron|SIGLEC10_uc002pws.1_Missense_Mutation_p.K53E NM_033130 NP_149121 Q96LC7 SIG10_HUMAN sialic acid binding Ig-like lectin 10 precursor 69 Extracellular (Potential).|Ig-like V-type. cell adhesion extracellular region|integral to membrane|plasma membrane sugar binding skin(1) 1 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101) GGAGCACCCTTGGTTGTCTCA 0.592 NA 19 43 0 0 0.007413 0 0 CEACAM18 729767 broad.mit.edu 37 19 51983926 51983926 + Missense_Mutation SNP A A T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr19:51983926A>T uc002pwv.1 + 3 575 c.575A>T c.(574-576)GAG>GTG p.E192V NM_001080405 NP_001073874 A8MTB9 CEA18_HUMAN carcinoembryonic antigen-related cell adhesion 192 integral to membrane skin(1) 1 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) GGCTGGCTGGAGGTTCTAGGT 0.438 NA 8 36 0 0 0.006214 0 0 ZNF480 147657 broad.mit.edu 37 19 52825580 52825580 + Silent SNP A A G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr19:52825580A>G uc010ydl.1 + 5 1147 c.1077A>G c.(1075-1077)GTA>GTG p.V359V ZNF480_uc002pyv.2_Silent_p.V282V|ZNF480_uc010ydm.1_Silent_p.V316V|ZNF480_uc010epn.2_Silent_p.V190V|uc002pyw.1_Intron NM_144684 NP_653285 Q8WV37 ZN480_HUMAN zinc finger protein 480 359 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding large_intestine(1) 1 GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369) CGCTCCTTGTACGACATCAGA 0.378 NA 8 66 0 0 0.00308 0 0 ZNF665 79788 broad.mit.edu 37 19 53668312 53668312 + Silent SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr19:53668312C>A uc010eqm.1 - 4 1531 c.1431G>T c.(1429-1431)CGG>CGT p.R477R NM_024733 NP_079009 Q9H7R5 ZN665_HUMAN zinc finger protein 665 412 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 GBM - Glioblastoma multiforme(134;0.0196) AATGAATTCCCCGATGACTTG 0.428 NA 15 88 4.93089e-13 8.53375e-13 0.00245 1 0 CACNG7 59284 broad.mit.edu 37 19 54444782 54444782 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr19:54444782G>T uc002qcr.1 + 4 498 c.483G>T c.(481-483)ATG>ATT p.M161I CACNG7_uc010era.1_Missense_Mutation_p.M161I NM_031896 NP_114102 P62955 CCG7_HUMAN voltage-dependent calcium channel gamma-7 161 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(1) 1 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0711) ACGAGGTCATGAACAGGCCCA 0.562 NA 12 97 2.68362e-12 4.52208e-12 0.001368 1 0 LILRB2 10288 broad.mit.edu 37 19 54783326 54783326 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr19:54783326G>T uc002qfb.2 - 5 798 c.532C>A c.(532-534)CGC>AGC p.R178S LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Missense_Mutation_p.R178S|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Missense_Mutation_p.R178S|LILRB2_uc010yet.1_Missense_Mutation_p.R62S|LILRB2_uc010yeu.1_RNA NM_005874 NP_005865 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, 178 Extracellular (Potential).|Ig-like C2-type 2. cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity skin(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) AAGATGGCGCGGGACGACCCA 0.577 NA 24 90 7.87624e-14 1.38634e-13 0.00278 1 0 LILRA3 11026 broad.mit.edu 37 19 54803141 54803141 + Missense_Mutation SNP C C T rs147561158 byFrequency TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr19:54803141C>T uc002qfd.2 - 4 601 c.536G>A c.(535-537)CGG>CAG p.R179Q LILRA6_uc002qew.1_Intron|LILRA3_uc010erk.2_Intron NM_006865 NP_006856 Q8N6C8 LIRA3_HUMAN leukocyte immunoglobulin-like receptor, 179 Ig-like C2-type 2. defense response extracellular region|plasma membrane antigen binding|receptor activity ovary(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GAAGATGGCCCGGGATGACCC 0.567 NA 16 101 0 0 0.004007 0 0 LILRA2 11027 broad.mit.edu 37 19 55085572 55085572 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr19:55085572C>A uc002qgg.3 + 2 153 c.64C>A c.(64-66)CAG>AAG p.Q22K LILRA2_uc010ern.2_Missense_Mutation_p.Q22K|LILRA2_uc002qgf.2_Missense_Mutation_p.Q22K|LILRA2_uc010yfe.1_Missense_Mutation_p.Q22K|LILRA2_uc010yff.1_Intron|LILRA2_uc010ero.2_Intron|LILRA2_uc010yfg.1_Missense_Mutation_p.Q22K NM_001130917 NP_001124389 Q8N149 LIRA2_HUMAN leukocyte immunoglobulin-like receptor, 22 defense response integral to membrane antigen binding|receptor activity ovary(1) 1 GBM - Glioblastoma multiforme(193;0.0963) GACCCACGTGCAGGCAGGTGA 0.632 NA 19 68 1.50039e-11 2.49693e-11 0.001882 1 0 KIR2DL4 3805 broad.mit.edu 37 19 55316358 55316358 + Missense_Mutation SNP T T C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr19:55316358T>C uc010yfm.1 + 3 227 c.187T>C c.(187-189)TAC>CAC p.Y63H KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR2DL4_uc010yfl.1_Missense_Mutation_p.Y58H|KIR2DL4_uc002qhg.2_Missense_Mutation_p.Y63H|KIR2DL4_uc002qhi.2_Missense_Mutation_p.Y63H|KIR2DL4_uc002qhh.2_Intron|KIR2DL4_uc002qhj.2_Missense_Mutation_p.Y63H|KIR2DL4_uc002qhf.2_Intron|KIR2DL4_uc010esd.2_Missense_Mutation_p.Y63H|KIR2DL4_uc010ese.2_5'Flank NM_002255 NP_002246 Q99706 KI2L4_HUMAN killer cell immunoglobulin-like receptor, two 63 Ig-like C2-type 1.|Extracellular (Potential). cellular defense response|regulation of immune response integral to plasma membrane protein binding|transmembrane receptor activity ovary(1) 1 GBM - Glioblastoma multiforme(193;0.0192) CTTCACGCTGTACAAGAAAGA 0.547 NA 15 41 0 0 0.006122 0 0 NCR1 9437 broad.mit.edu 37 19 55421391 55421391 + Missense_Mutation SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr19:55421391C>G uc002qib.2 + 5 686 c.648C>G c.(646-648)AAC>AAG p.N216K NCR1_uc002qic.2_Missense_Mutation_p.N216K|NCR1_uc002qie.2_Missense_Mutation_p.N216K|NCR1_uc002qid.2_Missense_Mutation_p.N121K|NCR1_uc002qif.2_Missense_Mutation_p.N121K|NCR1_uc010esj.2_Missense_Mutation_p.N109K NM_004829 NP_004820 O76036 NCTR1_HUMAN natural cytotoxicity triggering receptor 1 216 Extracellular (Potential). cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity integral to plasma membrane|SWI/SNF complex receptor activity|receptor signaling protein activity large_intestine(1)|ovary(1) 2 GBM - Glioblastoma multiforme(193;0.0449) ACATTGAGAACACCAGCCTTG 0.418 NA 32 112 0 0 0.002096 0 0 NLRP13 126204 broad.mit.edu 37 19 56416458 56416458 + Nonsense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr19:56416458G>T uc010ygg.1 - 8 2493 c.2468C>A c.(2467-2469)TCG>TAG p.S823* NM_176810 NP_789780 Q86W25 NAL13_HUMAN NACHT, leucine rich repeat and PYD containing 823 ATP binding skin(4)|ovary(3)|pancreas(1)|lung(1) 9 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) GCTGGCTGCCGACAAGTTGCA 0.527 NA 7 39 0.000157383 0.000191976 0.00308 1 0 NLRP8 126205 broad.mit.edu 37 19 56490764 56490764 + Nonsense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr19:56490764G>T uc002qmh.2 + 9 2952 c.2881G>T c.(2881-2883)GAA>TAA p.E961* NLRP8_uc010etg.2_Nonsense_Mutation_p.E942* NM_176811 NP_789781 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 961 cytoplasm ATP binding ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1) 13 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) TCACAGGCTGGAAAACTGCCT 0.512 NA 11 84 3.86212e-05 4.87942e-05 0.008291 1 0 DUXA 503835 broad.mit.edu 37 19 57666724 57666724 + Missense_Mutation SNP C C T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr19:57666724C>T uc002qoa.1 - 5 500 c.455G>A c.(454-456)CGA>CAA p.R152Q NM_001012729 NP_001012747 A6NLW8 DUXA_HUMAN double homeobox A 152 Homeobox 2. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123) TCTAGATCTTCGATTTTGGAA 0.378 NA 13 39 0 0 0.003163 0 0 DUXA 503835 broad.mit.edu 37 19 57666732 57666732 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr19:57666732G>T uc002qoa.1 - 5 492 c.447C>A c.(445-447)TTC>TTA p.F149L NM_001012729 NP_001012747 A6NLW8 DUXA_HUMAN double homeobox A 149 Homeobox 2. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123) TTCGATTTTGGAACCAAATCT 0.368 NA 12 32 1.5842e-08 2.38251e-08 0.001855 1 0 ZNF417 147687 broad.mit.edu 37 19 58420783 58420783 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr19:58420783C>A uc002qqq.2 - 3 1062 c.863G>T c.(862-864)CGA>CTA p.R288L ZNF417_uc010yhm.1_Missense_Mutation_p.R245L|ZNF417_uc002qqr.2_Missense_Mutation_p.R287L NM_152475 NP_689688 Q8TAU3 ZN417_HUMAN zinc finger protein 417 288 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151) AGTGTGGACTCGCTGATGTTG 0.458 NA 31 107 5.45727e-16 9.89084e-16 0.008361 1 0 ZNF606 80095 broad.mit.edu 37 19 58491351 58491351 + Nonsense_Mutation SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr19:58491351G>A uc002qqw.2 - 7 1315 c.697C>T c.(697-699)CAG>TAG p.Q233* ZNF606_uc010yhp.1_Nonsense_Mutation_p.Q143* NM_025027 NP_079303 Q8WXB4 ZN606_HUMAN zinc finger protein 606 233 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168) TGTTCTATCTGAGAAACTCTC 0.393 NA 9 95 0 0 0.004482 0 0 TPO 7173 broad.mit.edu 37 2 1418272 1418272 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:1418272G>T uc002qww.2 + 2 183 c.92G>T c.(91-93)TGG>TTG p.W31L TPO_uc010ewj.2_Intron|TPO_uc010yin.1_Missense_Mutation_p.W31L|TPO_uc002qwu.2_Missense_Mutation_p.W31L|TPO_uc002qwr.2_Missense_Mutation_p.W31L|TPO_uc002qwx.2_Missense_Mutation_p.W31L|TPO_uc010yio.1_Missense_Mutation_p.W31L|TPO_uc010yip.1_Missense_Mutation_p.W31L NM_000547 NP_000538 P07202 PERT_HUMAN thyroid peroxidase isoform a 31 Extracellular (Potential). cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1) 20 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) GAACTCCTTTGGGGTAAGTAG 0.448 NA 14 24 1.3612e-06 1.8944e-06 0.003163 1 0 MYT1L 23040 broad.mit.edu 37 2 1926164 1926164 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:1926164C>A uc002qxe.2 - 10 2204 c.1377G>T c.(1375-1377)AGG>AGT p.R459S MYT1L_uc002qxd.2_Missense_Mutation_p.R459S|MYT1L_uc010ewl.1_RNA NM_015025 NP_055840 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 459 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|central_nervous_system(1) 6 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) TCATATTGTCCCTCCTCCCAG 0.522 NA 24 111 7.87624e-14 1.38634e-13 0.00278 1 0 COLEC11 78989 broad.mit.edu 37 2 3691331 3691332 + Missense_Mutation DNP CG CG AC TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 CG CG - - CG CG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:3691331_3691332CG>AC uc002qya.2 + 7 587_588 c.439_440CG>AC c.(439-441)CGC>ACC p.R147T COLEC11_uc002qxz.2_Missense_Mutation_p.R144T|COLEC11_uc002qyb.2_Missense_Mutation_p.R123T|COLEC11_uc002qyc.2_Missense_Mutation_p.R123T|COLEC11_uc010ewo.2_Missense_Mutation_p.R99T|COLEC11_uc010ewp.2_Missense_Mutation_p.R121T|COLEC11_uc010ewq.2_Missense_Mutation_p.R97T|COLEC11_uc010ewr.2_Missense_Mutation_p.R97T|COLEC11_uc010ews.2_Missense_Mutation_p.R73T NM_024027 NP_076932 Q9BWP8 COL11_HUMAN collectin sub-family member 11 isoform a 147 Potential. collagen mannose binding 0 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) OV - Ovarian serous cystadenocarcinoma(76;0.127) CGCCGGTGTGCGCGAGACGGAG 0.634 NA 12 43 0 0 0.004672 0 0 ASAP2 8853 broad.mit.edu 37 2 9531320 9531320 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:9531320C>A uc002qzh.2 + 23 2853 c.2513C>A c.(2512-2514)TCT>TAT p.S838Y ASAP2_uc002qzi.2_Intron NM_003887 NP_003878 O43150 ASAP2_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH 838 Pro-rich. regulation of ARF GTPase activity Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|protein binding|zinc ion binding 0 CGCGTGACATCTACCAGTACG 0.567 NA 27 84 9.39395e-14 1.64701e-13 0.00632 1 0 APOB 338 broad.mit.edu 37 2 21251391 21251391 + Missense_Mutation SNP T T A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:21251391T>A uc002red.2 - 13 1765 c.1637A>T c.(1636-1638)CAG>CTG p.Q546L NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 546 Vitellogenin. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) AAGGAAAGTCTGAAGAAGAAC 0.468 NA 16 58 0 0 0.00499 0 0 C2orf84 653140 broad.mit.edu 37 2 24413446 24413446 + Silent SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:24413446C>A uc002rfc.2 + 6 653 c.567C>A c.(565-567)GGC>GGA p.G189G C2orf84_uc010eyc.2_RNA NM_001040710 NP_001035800 Q86W67 CB084_HUMAN hypothetical protein LOC653140 189 0 TGGGGCGGGGCTGGCATGCAG 0.597 NA 17 44 5.35267e-07 7.53525e-07 0.007413 1 0 ITSN2 50618 broad.mit.edu 37 2 24533223 24533223 + Missense_Mutation SNP G G C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:24533223G>C uc002rfe.2 - 7 841 c.583C>G c.(583-585)CTG>GTG p.L195V ITSN2_uc002rff.2_Missense_Mutation_p.L195V|ITSN2_uc002rfg.2_Missense_Mutation_p.L195V|ITSN2_uc010eyd.2_Missense_Mutation_p.L195V NM_006277 NP_006268 Q9NZM3 ITSN2_HUMAN intersectin 2 isoform 1 195 endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity kidney(2)|ovary(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCCATCATCAGACTATAAGAT 0.343 NA 77 199 0 0 0.00361 0 0 NCOA1 8648 broad.mit.edu 37 2 24949555 24949555 + Missense_Mutation SNP A A G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:24949555A>G uc002rfk.2 + 13 2955 c.2697A>G c.(2695-2697)ATA>ATG p.I899M NCOA1_uc010eye.2_Missense_Mutation_p.I899M|NCOA1_uc002rfi.2_Missense_Mutation_p.I748M|NCOA1_uc002rfj.2_Missense_Mutation_p.I899M|NCOA1_uc002rfl.2_Missense_Mutation_p.I899M NM_003743 NP_003734 Q15788 NCOA1_HUMAN nuclear receptor coactivator 1 isoform 1 899 Interaction with CREBBP. PAX3/NCOA1(8) soft_tissue(8)|ovary(1)|lung(1)|skin(1) 11 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGACAGCTATAAATCAGAGTA 0.343 NA T PAX3 alveolar rhadomyosarcoma 7 37 0 0 0.001984 0 0 C2orf18 54978 broad.mit.edu 37 2 27001193 27001193 + Silent SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:27001193G>T uc002rhp.1 + 6 1006 c.930G>T c.(928-930)CTG>CTT p.L310L C2orf18_uc002rhq.1_Silent_p.L227L|C2orf18_uc010eyo.1_Silent_p.L257L|C2orf18_uc010ylc.1_Silent_p.L163L NM_017877 NP_060347 Q8N357 CB018_HUMAN ANT2-binding protein precursor 310 Helical; (Potential). integral to membrane|lysosomal membrane 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCCTGGCACTGGGCTGGGAGG 0.612 NA 12 92 9.31168e-06 1.24063e-05 0.001855 1 0 GALNT14 79623 broad.mit.edu 37 2 31147103 31147103 + Missense_Mutation SNP T T A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:31147103T>A uc002rnr.2 - 13 1881 c.1262A>T c.(1261-1263)AAG>ATG p.K421M GALNT14_uc002rnq.2_Missense_Mutation_p.K401M|GALNT14_uc002rns.2_Missense_Mutation_p.K426M|GALNT14_uc010ymr.1_Missense_Mutation_p.K386M|GALNT14_uc010ezo.1_Missense_Mutation_p.K388M NM_024572 NP_078848 Q96FL9 GLT14_HUMAN N-acetylgalactosaminyltransferase 14 421 Lumenal (Potential).|Ricin B-type lectin. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding upper_aerodigestive_tract(2)|skin(1) 3 Acute lymphoblastic leukemia(172;0.155) GATATTGCCCTTCTGGATGGA 0.532 NA 17 97 0 0 0.006122 0 0 LTBP1 4052 broad.mit.edu 37 2 33412009 33412009 + Missense_Mutation SNP T T A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:33412009T>A uc002ros.2 + 6 1288 c.1288T>A c.(1288-1290)TGT>AGT p.C430S LTBP1_uc002rot.2_Missense_Mutation_p.C104S|LTBP1_uc002rou.2_Missense_Mutation_p.C104S|LTBP1_uc002rov.2_Missense_Mutation_p.C104S|LTBP1_uc010ymz.1_Missense_Mutation_p.C104S|LTBP1_uc010yna.1_Missense_Mutation_p.C104S NM_206943 NP_996826 Q14766 LTBP1_HUMAN latent transforming growth factor beta binding 430 EGF-like 2. negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1) 8 all_hematologic(175;0.115) Medulloblastoma(90;0.215) AGGAAAACTTTGTCAGATCCC 0.478 NA 19 31 0 0 0.006122 0 0 LTBP1 4052 broad.mit.edu 37 2 33488390 33488390 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:33488390C>A uc002ros.2 + 15 2551 c.2551C>A c.(2551-2553)CCT>ACT p.P851T LTBP1_uc002rot.2_Missense_Mutation_p.P525T|LTBP1_uc002rou.2_Missense_Mutation_p.P524T|LTBP1_uc002rov.2_Missense_Mutation_p.P471T|LTBP1_uc010ymz.1_Missense_Mutation_p.P524T|LTBP1_uc010yna.1_Missense_Mutation_p.P471T NM_206943 NP_996826 Q14766 LTBP1_HUMAN latent transforming growth factor beta binding 850 negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1) 8 all_hematologic(175;0.115) Medulloblastoma(90;0.215) ACCTCCTGTGCCTGTTGAAGT 0.398 NA 16 58 1.3612e-06 1.8944e-06 0.003163 1 0 MAP4K3 8491 broad.mit.edu 37 2 39487871 39487871 + Silent SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:39487871C>A uc002rro.2 - 29 2275 c.2184G>T c.(2182-2184)CTG>CTT p.L728L MAP4K3_uc002rrp.2_Silent_p.L707L|MAP4K3_uc010yns.1_Silent_p.L281L NM_003618 NP_003609 Q8IVH8 M4K3_HUMAN mitogen-activated protein kinase kinase kinase 728 CNH. JNK cascade ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity ovary(3)|lung(3)|stomach(1)|pancreas(1) 8 all_hematologic(82;0.211) CAGGAACTACCAGCATTTCAA 0.363 NA 15 27 2.32078e-09 3.60742e-09 0.003163 1 0 SLC8A1 6546 broad.mit.edu 37 2 40405545 40405545 + Missense_Mutation SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:40405545C>G uc002rrx.2 - 2 1921 c.1897G>C c.(1897-1899)GAG>CAG p.E633Q uc002rrw.2_Intron|SLC8A1_uc002rry.2_Missense_Mutation_p.E633Q|SLC8A1_uc002rrz.2_Intron|SLC8A1_uc002rsa.2_Intron|SLC8A1_uc002rsd.3_Intron|SLC8A1_uc002rsb.1_Intron NM_021097 NP_066920 P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium 633 Cytoplasmic (Potential). cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) TCACTCATCTCCACCAGGCGG 0.512 NA 34 215 0 0 0.004289 0 0 EML4 27436 broad.mit.edu 37 2 42488304 42488304 + Missense_Mutation SNP A A G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:42488304A>G uc002rsi.2 + 4 644 c.382A>G c.(382-384)AAA>GAA p.K128E EML4_uc002rsh.3_Missense_Mutation_p.K128E|EML4_uc010fap.2_Intron NM_019063 NP_061936 Q9HC35 EMAL4_HUMAN echinoderm microtubule associated protein like 4 128 microtubule-based process|mitosis cytoplasm|microtubule protein binding EML4/ALK(246) lung(246)|ovary(2)|central_nervous_system(1)|skin(1) 250 acagagagaaaaaaaagagga 0.274 NA T ALK NSCLC 14 13 0 0 0.001855 0 0 SOCS5 9655 broad.mit.edu 37 2 46986566 46986566 + Silent SNP G G C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:46986566G>C uc002rvf.2 + 2 1061 c.897G>C c.(895-897)CTG>CTC p.L299L SOCS5_uc010yoe.1_Silent_p.L268L|SOCS5_uc002rvg.2_Silent_p.L299L NM_014011 NP_054730 O75159 SOCS5_HUMAN suppressor of cytokine signaling 5 299 cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth ovary(1)|lung(1)|central_nervous_system(1) 3 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) LUSC - Lung squamous cell carcinoma(58;0.114) TATATAAACTGGGACCAAAAT 0.433 NA 20 62 0 0 0.001523 0 0 NRXN1 9378 broad.mit.edu 37 2 50463932 50463932 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:50463932G>T uc010fbp.2 - 2 1243 c.436C>A c.(436-438)CAT>AAT p.H146N NRXN1_uc002rxb.3_Missense_Mutation_p.H853N|NRXN1_uc010fbq.2_Missense_Mutation_p.H1221N|NRXN1_uc002rxe.3_Missense_Mutation_p.H1181N|NRXN1_uc002rxc.1_RNA NM_138735 NP_620072 P58400 NRX1B_HUMAN neurexin 1 isoform beta precursor 146 Extracellular (Potential).|Laminin G-like. angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding p.H146L(1) ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) CTTACTATATGCAGTTCTAGG 0.398 NA 10 18 7.48243e-07 1.04676e-06 0.006214 1 0 NRXN1 9378 broad.mit.edu 37 2 50780095 50780095 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:50780095C>A uc010fbq.2 - 9 2986 c.1509G>T c.(1507-1509)ATG>ATT p.M503I NRXN1_uc002rxb.3_Missense_Mutation_p.M135I|NRXN1_uc002rxe.3_Missense_Mutation_p.M463I|NRXN1_uc002rxc.1_RNA NM_001135659 NP_001129131 P58400 NRX1B_HUMAN neurexin 1 isoform alpha2 precursor Error:Variant_position_missing_in_P58400_after_alignment angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) CATGGATCTTCATCTTAGGAT 0.418 NA 22 128 4.7796e-09 7.3444e-09 0.004656 1 0 GPR75 10936 broad.mit.edu 37 2 54080865 54080865 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:54080865C>A uc002rxo.3 - 2 1300 c.1029G>T c.(1027-1029)CAG>CAT p.Q343H ASB3_uc002rxi.3_Intron NM_006794 NP_006785 O95800 GPR75_HUMAN G protein-coupled receptor 75 343 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) AGAGAACCACCTGTACCAAGG 0.433 NA 20 36 6.33239e-15 1.13392e-14 0.001523 1 0 MTIF2 4528 broad.mit.edu 37 2 55471275 55471275 + Missense_Mutation SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:55471275C>G uc002ryn.2 - 12 1938 c.1201G>C c.(1201-1203)GAT>CAT p.D401H MTIF2_uc010yox.1_Missense_Mutation_p.D70H|MTIF2_uc002ryo.2_Missense_Mutation_p.D401H NM_001005369 NP_001005369 P46199 IF2M_HUMAN mitochondrial translational initiation factor 2 401 regulation of translational initiation mitochondrion GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity ovary(1) 1 CCATTTTCATCAAACATTAAG 0.398 NA 4 47 0 0 0.000602 0 0 MDH1 4190 broad.mit.edu 37 2 63832413 63832413 + Splice_Site SNP G G C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:63832413G>C uc002scj.1 + 7 732 c.676_splice c.e7-1 p.T226_splice MDH1_uc010ypv.1_Splice_Site_p.T244_splice|MDH1_uc010ypw.1_Splice_Site_p.T131_splice NM_005917 NP_005908 P40925 MDHC_HUMAN cytosolic malate dehydrogenase gluconeogenesis|tricarboxylic acid cycle centrosome|cytosol L-malate dehydrogenase activity|malic enzyme activity kidney(2) 2 NADH(DB00157) CCCCTTCCCAGACTGTGCAGC 0.512 NA 5 21 0 0 0.000602 0 0 ALMS1 7840 broad.mit.edu 37 2 73650100 73650100 + Silent SNP G G C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:73650100G>C uc002sje.1 + 5 876 c.765G>C c.(763-765)CTG>CTC p.L255L ALMS1_uc002sjf.1_Silent_p.L212L NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 254 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1) 9 TTGCACCTCTGAGGTAGGATG 0.398 NA 5 154 0 0 0.000602 0 0 TET3 200424 broad.mit.edu 37 2 74273589 74273589 + Missense_Mutation SNP G G C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:74273589G>C uc002skb.3 + 1 140 c.140G>C c.(139-141)TGG>TCG p.W47S TET3_uc010fez.1_Missense_Mutation_p.W47S NM_144993 NP_659430 O43151 TET3_HUMAN tet oncogene family member 3 47 metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 AAGCCCGACTGGGAGGCTGCC 0.647 NA 5 32 0 0 0.001168 0 0 DCTN1 1639 broad.mit.edu 37 2 74593378 74593378 + Missense_Mutation SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:74593378G>A uc002skx.2 - 23 3064 c.2753C>T c.(2752-2754)CCC>CTC p.P918L SLC4A5_uc002skl.2_5'Flank|DCTN1_uc002skt.1_5'Flank|DCTN1_uc002skv.2_Missense_Mutation_p.P784L|DCTN1_uc002sku.2_Missense_Mutation_p.P784L|DCTN1_uc002skw.1_Missense_Mutation_p.P894L|DCTN1_uc010ffd.2_Missense_Mutation_p.P898L|DCTN1_uc002sky.2_Missense_Mutation_p.P881L NM_004082 NP_004073 Q14203 DCTN1_HUMAN dynactin 1 isoform 1 918 cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development centrosome|cytosol|kinetochore|microtubule|spindle pole motor activity|protein binding ovary(3)|skin(2) 5 TACCTTGCTGGGGGGCCGCTC 0.562 NA 31 72 0 0 0.003755 0 0 LRRTM4 80059 broad.mit.edu 37 2 76975980 76975980 + Nonsense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:76975980G>T uc002snr.2 - 4 2029 c.1614C>A c.(1612-1614)TGC>TGA p.C538* LRRTM4_uc002snq.2_Nonsense_Mutation_p.C538* NM_001134745 NP_001128217 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 538 Cytoplasmic (Potential). integral to membrane pancreas(3)|ovary(1) 4 Colorectal(11;0.059) GGTGGGCCTGGCAGTACCCGA 0.537 NA 13 31 0.000219431 0.000267177 0.00245 1 0 REG1B 5968 broad.mit.edu 37 2 79313623 79313623 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:79313623C>A uc002sny.2 - 4 303 c.191G>T c.(190-192)TGC>TTC p.C64F REG1B_uc010ffv.1_Missense_Mutation_p.C64F|REG1B_uc010ffw.2_3'UTR NM_006507 NP_006498 P48304 REG1B_HUMAN regenerating islet-derived 1 beta precursor 64 C-type lectin. cell proliferation extracellular region sugar binding central_nervous_system(1)|skin(1) 2 CATGTTCTGGCAATAGAGCTG 0.498 NA 18 80 8.28177e-16 1.49495e-15 0.007413 1 0 CTNNA2 1496 broad.mit.edu 37 2 79878723 79878723 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:79878723C>A uc010ysh.1 + 1 46 c.41C>A c.(40-42)CCC>CAC p.P14H CTNNA2_uc010yse.1_Missense_Mutation_p.P14H|CTNNA2_uc010ysf.1_Missense_Mutation_p.P14H|CTNNA2_uc010ysg.1_Missense_Mutation_p.P14H|hsa-mir-4264|MI0015877_5'Flank NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 14 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton pancreas(4)|lung(3)|breast(1)|skin(1) 9 AAATGGGACCCCAAAAGTTTG 0.398 NA 15 68 1.33834e-09 2.09242e-09 0.007413 1 0 SFTPB 6439 broad.mit.edu 37 2 85893739 85893739 + Splice_Site SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:85893739C>A uc002sqh.2 - 4 399 c.393_splice c.e4+1 p.T131_splice SFTPB_uc002sqi.2_Splice_Site_p.T143_splice|SFTPB_uc002sqj.2_Splice_Site_p.T131_splice NM_198843 NP_942140 P07988 PSPB_HUMAN surfactant, pulmonary-associated protein B organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process extracellular space|lysosome ovary(1)|central_nervous_system(1) 2 GCAGCCCTCACAGTCTGGTTC 0.607 NA 18 35 9.7654e-05 0.000121435 0.007413 1 0 CD8A 925 broad.mit.edu 37 2 87017548 87017548 + Silent SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:87017548C>G uc002srt.2 - 2 1195 c.306G>C c.(304-306)CTG>CTC p.L102L RMND5A_uc002srs.3_Intron|CD8A_uc002srv.2_Silent_p.L102L|CD8A_uc010ytn.1_Silent_p.L143L|CD8A_uc002sru.2_Silent_p.L102L NM_001768 NP_001759 P01732 CD8A_HUMAN CD8 antigen alpha polypeptide isoform 1 102 Ig-like V-type.|Extracellular (Potential). antigen processing and presentation|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway extracellular region|integral to plasma membrane|T cell receptor complex coreceptor activity|MHC class I protein binding ovary(1) 1 GGAAGTCGCTCAGGGTGAGGA 0.607 NA 5 79 0 0 0.000602 0 0 MAL 4118 broad.mit.edu 37 2 95713808 95713808 + Silent SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:95713808C>A uc002stx.1 + 2 257 c.198C>A c.(196-198)ACC>ACA p.T66T MAL_uc002sty.1_Intron|MAL_uc002stz.1_Silent_p.T66T|MAL_uc002sua.1_Intron NM_002371 NP_002362 P21145 MAL_HUMAN T-lymphocyte maturation-associated protein 66 Helical; (Potential).|MARVEL. apical protein localization|cell differentiation|central nervous system development|induction of apoptosis|membrane raft polarization|myelination apical plasma membrane|endoplasmic reticulum|endosome|integral to plasma membrane|membrane raft apoptotic protease activator activity|channel activity|lipid binding|structural constituent of myelin sheath 0 STAD - Stomach adenocarcinoma(1183;0.18) TCGTGGCCACCACCACCTTGA 0.627 NA 8 23 0.00307968 0.00357786 0.00308 1 0 ZNF2 7549 broad.mit.edu 37 2 95847751 95847751 + Missense_Mutation SNP C C T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:95847751C>T uc002suf.2 + 6 1637 c.1175C>T c.(1174-1176)ACG>ATG p.T392M ZNF2_uc002sug.2_Missense_Mutation_p.T350M|ZNF2_uc010yue.1_Missense_Mutation_p.T355M|ZNF2_uc010fhs.2_Missense_Mutation_p.T313M NM_021088 NP_066574 Q9BSG1 ZNF2_HUMAN zinc finger protein 2 isoform a 392 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Ovarian(717;0.00768) READ - Rectum adenocarcinoma(193;0.0222) CGTGTCCACACGGGAGAGAAG 0.507 NA 24 66 0 0 0.002299 0 0 ASTL 431705 broad.mit.edu 37 2 96795583 96795583 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:96795583C>A uc010yui.1 - 8 854 c.854G>T c.(853-855)GGC>GTC p.G285V NM_001002036 NP_001002036 Q6HA08 ASTL_HUMAN astacin-like metalloendopeptidase precursor 285 proteolysis metalloendopeptidase activity|zinc ion binding 0 GGGCCTGGGGCCACTTGGGCT 0.622 NA 12 45 5.50884e-06 7.37624e-06 0.001368 1 0 EIF5B 9669 broad.mit.edu 37 2 99976814 99976814 + Nonsense_Mutation SNP C C T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:99976814C>T uc002tab.2 + 2 335 c.151C>T c.(151-153)CAG>TAG p.Q51* NM_015904 NP_056988 O60841 IF2P_HUMAN eukaryotic translation initiation factor 5B 51 regulation of translational initiation cytosol GTP binding|GTPase activity|protein binding|translation initiation factor activity ovary(2)|pancreas(1) 3 GAAAAAAAAGCAGGACTTTGA 0.323 Colon(162;2388 2567 2705 3444) NA 5 27 0 0 0.000602 0 0 EIF5B 9669 broad.mit.edu 37 2 99988139 99988139 + Missense_Mutation SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:99988139G>A uc002tab.2 + 9 1682 c.1498G>A c.(1498-1500)GAT>AAT p.D500N NM_015904 NP_056988 O60841 IF2P_HUMAN eukaryotic translation initiation factor 5B 500 regulation of translational initiation cytosol GTP binding|GTPase activity|protein binding|translation initiation factor activity ovary(2)|pancreas(1) 3 AGATACTGAGGATGCTGGATT 0.333 Colon(162;2388 2567 2705 3444) NA 4 24 0 0 0.000602 0 0 SLC9A4 389015 broad.mit.edu 37 2 103095483 103095483 + Missense_Mutation SNP A A C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:103095483A>C uc002tbz.3 + 2 899 c.442A>C c.(442-444)ACC>CCC p.T148P NM_001011552 NP_001011552 Q6AI14 SL9A4_HUMAN solute carrier family 9 (sodium/hydrogen 148 Helical; Name=D/M4; (Potential). regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity skin(2)|central_nervous_system(1) 3 CTTCATGCCCACCCGGCCCTT 0.592 NA 16 34 0 0 0.006122 0 0 BUB1 699 broad.mit.edu 37 2 111431931 111431931 + Missense_Mutation SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:111431931G>A uc002tgc.2 - 2 150 c.38C>T c.(37-39)GCC>GTC p.A13V BUB1_uc010yxh.1_Intron|BUB1_uc010fkb.2_Missense_Mutation_p.A13V|BUB1_uc002tgd.2_Missense_Mutation_p.A13V NM_004336 NP_004327 O43683 BUB1_HUMAN budding uninhibited by benzimidazoles 1 13 BUB1 N-terminal.|Necessary for kinetochore localization. apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion condensed chromosome kinetochore|cytosol ATP binding|protein binding|protein serine/threonine kinase activity lung(2)|breast(2)|stomach(1)|ovary(1)|kidney(1) 7 Ovarian(717;0.0822) BRCA - Breast invasive adenocarcinoma(221;0.0556) CTGCATGTGGGCTTCAAGCAT 0.378 NA 14 38 0 0 0.00499 0 0 IL1B 3553 broad.mit.edu 37 2 113588914 113588914 + Nonsense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:113588914G>T uc002tii.1 - 6 639 c.552C>A c.(550-552)TAC>TAA p.Y184* IL1B_uc002tih.1_Nonsense_Mutation_p.Y153* NM_000576 NP_000567 P01584 IL1B_HUMAN interleukin 1, beta proprotein 184 activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation cytosol|extracellular space cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding lung(3)|breast(1) 4 Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366) CGCAGGACAGGTACAGATTCT 0.463 NA 45 129 3.4345e-17 6.36211e-17 0.002852 1 0 IL1F7 27178 broad.mit.edu 37 2 113676314 113676314 + Missense_Mutation SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:113676314C>G uc002tij.2 + 5 627 c.585C>G c.(583-585)AAC>AAG p.N195K IL1F7_uc002tik.2_Missense_Mutation_p.N174K|IL1F7_uc002til.2_Missense_Mutation_p.N155K|IL1F7_uc002tim.2_Missense_Mutation_p.N134K|IL1F7_uc002tin.2_Missense_Mutation_p.N169K NM_014439 NP_055254 Q9NZH6 IL37_HUMAN interleukin 1 family, member 7 isoform 1 195 immune response cytosol|extracellular space|nucleus cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding 0 AATTTGAGAACAGGAAACACA 0.498 NA 8 35 0 0 0.00308 0 0 MKI67IP 84365 broad.mit.edu 37 2 122488549 122488549 + Missense_Mutation SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:122488549C>G uc002tnk.2 - 4 561 c.484G>C c.(484-486)GAG>CAG p.E162Q MKI67IP_uc010fls.2_Missense_Mutation_p.E162Q NM_032390 NP_115766 Q9BYG3 MK67I_HUMAN MKI67 interacting nucleolar phosphoprotein 162 protein complex assembly|rRNA metabolic process|rRNA transcription condensed nuclear chromosome|cytoplasm|nucleolus|nucleoplasm nucleotide binding|protein binding|RNA binding 0 AATCGCTCCTCCATCCGTAGC 0.343 NA 5 130 0 0 0.000602 0 0 TSN 7247 broad.mit.edu 37 2 122519027 122519027 + Missense_Mutation SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:122519027C>G uc002tnl.2 + 4 535 c.300C>G c.(298-300)TTC>TTG p.F100L TSN_uc002tnm.2_Missense_Mutation_p.F53L|TSN_uc010yze.1_Missense_Mutation_p.F100L|TSN_uc010flt.2_Intron NM_004622 NP_004613 Q15631 TSN_HUMAN translin 100 DNA recombination cytoplasm|nucleus sequence-specific DNA binding breast(2)|large_intestine(1) 3 Ovarian(717;0.0563)|Prostate(154;0.116) GCTTGGTCTTCTTGGCAGCAT 0.428 NA 3 126 0 0 0.004672 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125284963 125284963 + Missense_Mutation SNP A A T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:125284963A>T uc002tno.2 + 10 1940 c.1576A>T c.(1576-1578)ATT>TTT p.I526F CNTNAP5_uc010flu.2_Missense_Mutation_p.I527F NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 526 Laminin G-like 2.|Extracellular (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) CAAGGACCTCATTTCAGTTCA 0.438 NA 13 87 0 0 0.001368 0 0 SAP130 79595 broad.mit.edu 37 2 128707786 128707786 + Missense_Mutation SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:128707786C>G uc002tpp.2 - 16 2724 c.2592G>C c.(2590-2592)AAG>AAC p.K864N SAP130_uc002tpn.2_Missense_Mutation_p.K624N|SAP130_uc002tpo.2_Missense_Mutation_p.K644N|SAP130_uc010fmd.2_Missense_Mutation_p.K899N NM_024545 NP_078821 Q9H0E3 SP130_HUMAN Sin3A-associated protein, 130kDa isoform b 864 Interactions with SIN3A and HDAC1. histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity ovary(2)|skin(2) 4 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0771) CCAGAAGACTCTTGGCAGTGG 0.468 NA 11 163 0 0 0.001368 0 0 TUBA3E 112714 broad.mit.edu 37 2 130951770 130951770 + Silent SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:130951770G>T uc002tqv.2 - 4 746 c.645C>A c.(643-645)CGC>CGA p.R215R NM_207312 NP_997195 Q6PEY2 TBA3E_HUMAN tubulin, alpha 3e 215 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity skin(1) 1 Colorectal(110;0.1) TGTCCAGGTTGCGCCGACATA 0.547 NA 15 53 7.93312e-07 1.1075e-06 0.00245 1 0 TUBA3E 112714 broad.mit.edu 37 2 130951938 130951938 + Silent SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:130951938C>A uc002tqv.2 - 4 578 c.477G>T c.(475-477)GTG>GTT p.V159V NM_207312 NP_997195 Q6PEY2 TBA3E_HUMAN tubulin, alpha 3e 159 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity skin(1) 1 Colorectal(110;0.1) TGCTGTAATCCACTGAGAGCC 0.582 NA 23 64 7.88262e-20 1.51018e-19 0.00333 1 0 TUBA3D 113457 broad.mit.edu 37 2 132237911 132237911 + Silent SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:132237911C>A uc002tsu.3 + 4 752 c.645C>A c.(643-645)CGC>CGA p.R215R NM_080386 NP_525125 Q13748 TBA3C_HUMAN tubulin, alpha 3d 215 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity 0 BRCA - Breast invasive adenocarcinoma(221;0.13) TATGTCGGCGCAACCTGGACA 0.547 Ovarian(137;2059 2432 35543 39401) NA 8 175 0.00244969 0.00286082 0.00245 1 0 MGAT5 4249 broad.mit.edu 37 2 135206372 135206372 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:135206372G>T uc002ttv.1 + 16 2325 c.2180G>T c.(2179-2181)CGG>CTG p.R727L LOC151162_uc002ttw.3_5'Flank NM_002410 NP_002401 Q09328 MGT5A_HUMAN N-acetylglucosaminyltransferase V 727 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity ovary(2)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(221;0.0964) TGCCCCTGCCGGGACTTCATC 0.602 NA 12 37 4.3838e-07 6.19079e-07 0.001855 1 0 YSK4 80122 broad.mit.edu 37 2 135744958 135744958 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:135744958G>T uc002tue.1 - 7 1515 c.1484C>A c.(1483-1485)CCC>CAC p.P495H YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.P382H|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.3_Missense_Mutation_p.P223H|YSK4_uc002tui.3_Missense_Mutation_p.P512H NM_025052 NP_079328 Q56UN5 YSK4_HUMAN Yeast Sps1/Ste20-related kinase 4 isoform 1 495 ATP binding|protein serine/threonine kinase activity stomach(2)|urinary_tract(1)|ovary(1)|breast(1) 5 BRCA - Breast invasive adenocarcinoma(221;0.112) TGGTTCCTTGGGGCTTCCATC 0.428 NA 21 55 1.50039e-11 2.49693e-11 0.001882 1 0 THSD7B 80731 broad.mit.edu 37 2 138169276 138169276 + Nonsense_Mutation SNP T T A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:138169276T>A uc002tva.1 + 13 2700 c.2700T>A c.(2698-2700)TAT>TAA p.Y900* THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Nonsense_Mutation_p.Y790* NM_001080427 NP_001073896 thrombospondin, type I, domain containing 7B ovary(4)|central_nervous_system(2)|pancreas(1) 7 BRCA - Breast invasive adenocarcinoma(221;0.19) CCCAACCTTATGGAAACTGGT 0.483 NA 27 104 0 0 0.003954 0 0 LRP1B 53353 broad.mit.edu 37 2 141773396 141773396 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:141773396G>T uc002tvj.1 - 13 3031 c.2059C>A c.(2059-2061)CAG>AAG p.Q687K LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 687 Extracellular (Potential).|LDL-receptor class B 7. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ACAAAAATCTGCCGATTGAAT 0.423 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 12 55 5.16669e-11 8.46202e-11 0.000978 1 0 TNFAIP6 7130 broad.mit.edu 37 2 152220468 152220468 + Missense_Mutation SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:152220468G>A uc002txk.2 + 2 182 c.106G>A c.(106-108)GGT>AGT p.G36S NM_007115 NP_009046 P98066 TSG6_HUMAN tumor necrosis factor, alpha-induced protein 6 36 Link. cell adhesion|cell-cell signaling|inflammatory response|signal transduction hyaluronic acid binding 0 BRCA - Breast invasive adenocarcinoma(221;0.131) ACGAGCAGCCGGTGTGTACCA 0.483 NA 4 55 0 0 0.001168 0 0 PLA2R1 22925 broad.mit.edu 37 2 160806229 160806229 + Missense_Mutation SNP T T A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:160806229T>A uc002ube.1 - 25 3806 c.3599A>T c.(3598-3600)GAT>GTT p.D1200V PLA2R1_uc010zcp.1_Missense_Mutation_p.D1200V|PLA2R1_uc002ubf.2_Missense_Mutation_p.D1200V NM_007366 NP_031392 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1 isoform 1 precursor 1200 Extracellular (Potential).|C-type lectin 7. endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding skin(2)|ovary(1) 3 GGACTCCTCATCTTTCCAAAA 0.493 NA 14 44 0 0 0.004007 0 0 ITGB6 3694 broad.mit.edu 37 2 160964216 160964216 + Missense_Mutation SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:160964216C>G uc002ubh.2 - 14 2258 c.2242G>C c.(2242-2244)GAA>CAA p.E748Q ITGB6_uc010fou.2_Missense_Mutation_p.E748Q|ITGB6_uc010zcq.1_Missense_Mutation_p.E706Q|ITGB6_uc010fov.1_Missense_Mutation_p.E748Q NM_000888 NP_000879 P18564 ITB6_HUMAN integrin, beta 6 precursor 748 Cytoplasmic (Potential).|Interaction with HAX1. cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development integrin complex receptor activity ovary(1)|lung(1)|skin(1) 3 TTTGATCGTTCTGCTTCAAAT 0.478 NA 7 118 0 0 0.00308 0 0 FIGN 55137 broad.mit.edu 37 2 164467883 164467883 + Silent SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:164467883C>A uc002uck.1 - 3 770 c.459G>T c.(457-459)GGG>GGT p.G153G NM_018086 NP_060556 Q5HY92 FIGN_HUMAN fidgetin 153 nuclear matrix ATP binding|nucleoside-triphosphatase activity large_intestine(2)|ovary(1)|skin(1) 4 TGCTGGCTACCCCAGGAGAGC 0.527 NA 10 72 0.000442599 0.000529778 0.006214 1 0 SCN2A 6326 broad.mit.edu 37 2 166229750 166229750 + Missense_Mutation SNP T T A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:166229750T>A uc002udc.2 + 21 4155 c.3865T>A c.(3865-3867)TTA>ATA p.L1289I SCN2A_uc002udd.2_Missense_Mutation_p.L1289I|SCN2A_uc002ude.2_Missense_Mutation_p.L1289I NM_001040142 NP_001035232 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha 1289 III.|Helical; Name=S3 of repeat III; (Potential). myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|breast(1)|pancreas(1) 8 Lamotrigine(DB00555) ACTGGTTAGCTTAACTGCAAA 0.403 NA 27 95 0 0 0.001786 0 0 SCN2A 6326 broad.mit.edu 37 2 166246119 166246119 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:166246119G>T uc002udc.2 + 27 6093 c.5803G>T c.(5803-5805)GAC>TAC p.D1935Y SCN2A_uc002udd.2_Missense_Mutation_p.D1935Y|SCN2A_uc002ude.2_Missense_Mutation_p.D1935Y NM_001040142 NP_001035232 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha 1935 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|breast(1)|pancreas(1) 8 Lamotrigine(DB00555) ATACAAGAAAGACAAAGGCAA 0.388 NA 11 65 4.68919e-08 6.92803e-08 0.008291 1 0 XIRP2 129446 broad.mit.edu 37 2 168103862 168103862 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:168103862C>A uc002udx.2 + 8 5978 c.5960C>A c.(5959-5961)GCG>GAG p.A1987E XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.A1812E|XIRP2_uc010fpq.2_Missense_Mutation_p.A1765E|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 1812 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 TTTGAGCCAGCGGCCAAGTGG 0.463 NA 5 36 0.000602214 0.000715729 0.000602 1 0 XIRP2 129446 broad.mit.edu 37 2 168103880 168103880 + Missense_Mutation SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:168103880G>A uc002udx.2 + 8 5996 c.5978G>A c.(5977-5979)GGA>GAA p.G1993E XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.G1818E|XIRP2_uc010fpq.2_Missense_Mutation_p.G1771E|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 1818 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 TGGCAAGGGGGAGCAGATACT 0.458 NA 12 30 0 0 0.001855 0 0 XIRP2 129446 broad.mit.edu 37 2 168104711 168104711 + Missense_Mutation SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:168104711C>G uc002udx.2 + 8 6827 c.6809C>G c.(6808-6810)TCC>TGC p.S2270C XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.S2095C|XIRP2_uc010fpq.2_Missense_Mutation_p.S2048C|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 2095 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 ATGGAAAGGTCCTTGAATCCA 0.428 NA 10 41 0 0 0.008291 0 0 LRP2 4036 broad.mit.edu 37 2 170058194 170058194 + Missense_Mutation SNP A A T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:170058194A>T uc002ues.2 - 44 8609 c.8396T>A c.(8395-8397)ATC>AAC p.I2799N NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 2799 LDL-receptor class A 18.|Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) ACCATTGCAGATAAACTCACG 0.438 NA 13 43 0 0 0.00245 0 0 LRP2 4036 broad.mit.edu 37 2 170092507 170092507 + Missense_Mutation SNP A A T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:170092507A>T uc002ues.2 - 29 4976 c.4763T>A c.(4762-4764)ATG>AAG p.M1588K NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 1588 LDL-receptor class B 12.|Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) GACAGTGCGCATGCTGCCGTC 0.522 NA 8 31 0 0 0.008291 0 0 KBTBD10 10324 broad.mit.edu 37 2 170367183 170367183 + Missense_Mutation SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:170367183G>A uc002ueu.1 + 1 972 c.895G>A c.(895-897)GGA>AGA p.G299R KBTBD10_uc010zdh.1_Intron NM_006063 NP_006054 O60662 KBTBA_HUMAN kelch repeat and BTB (POZ) domain containing 10 299 striated muscle contraction centrosome|nucleolus|plasma membrane|pseudopodium|ruffle 0 TCCCAGGCATGGAATGTTTGT 0.473 NA 12 62 0 0 0.000978 0 0 FASTKD1 79675 broad.mit.edu 37 2 170403179 170403179 + Missense_Mutation SNP G G C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:170403179G>C uc002uev.3 - 8 1638 c.1250C>G c.(1249-1251)TCT>TGT p.S417C FASTKD1_uc002uew.3_RNA|FASTKD1_uc002uex.3_Missense_Mutation_p.S403C NM_024622 NP_078898 Q53R41 FAKD1_HUMAN FAST kinase domains 1 417 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity ovary(4) 4 GACCAGAACAGACACCTCAGT 0.373 NA 3 64 0 0 0.004672 0 0 FASTKD1 79675 broad.mit.edu 37 2 170417034 170417034 + Silent SNP T T C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:170417034T>C uc002uev.3 - 5 1222 c.834A>G c.(832-834)CTA>CTG p.L278L FASTKD1_uc002uew.3_RNA|FASTKD1_uc002uex.3_Silent_p.L264L|FASTKD1_uc002uey.2_Silent_p.L241L NM_024622 NP_078898 Q53R41 FAKD1_HUMAN FAST kinase domains 1 278 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity ovary(4) 4 TATTAAATTGTAGAAATTTGT 0.284 NA 22 70 0 0 0.00278 0 0 ITGA6 3655 broad.mit.edu 37 2 173352066 173352066 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:173352066C>A uc002uhp.1 + 15 2248 c.2045C>A c.(2044-2046)CCT>CAT p.P682H ITGA6_uc010zdy.1_Missense_Mutation_p.P563H|ITGA6_uc002uho.1_Missense_Mutation_p.P682H|ITGA6_uc010fqm.1_Missense_Mutation_p.P328H NM_001079818 NP_001073286 P23229 ITA6_HUMAN integrin alpha chain, alpha 6 isoform a 721 Extracellular (Potential). blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter integrin complex protein binding|receptor activity ovary(1)|lung(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0979) ACAAACAGCCCTTCCAACCCA 0.378 NA 8 66 0.00307968 0.00357786 0.00308 1 0 ZAK 51776 broad.mit.edu 37 2 174131331 174131332 + Missense_Mutation DNP TG TG CT TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 TG TG - - TG TG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:174131331_174131332TG>CT uc002uhz.2 + 20 2456_2457 c.2256_2257TG>CT c.(2254-2259)ACTGAC>ACCTAC p.D753Y uc002uib.2_Intron NM_016653 NP_057737 Q9NYL2 MLTK_HUMAN MLK-related kinase isoform 1 753 activation of JUN kinase activity|activation of MAPKK activity|cell cycle arrest|cell death|cell differentiation|cell proliferation|DNA damage checkpoint|positive regulation of apoptosis|response to radiation cytoplasm|nucleus ATP binding|identical protein binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding lung(3)|stomach(1)|ovary(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.176) ACCCTGAGACTGACTCAAGAGC 0.554 NA 13 40 0 0 0.004672 0 0 HOXD1 3231 broad.mit.edu 37 2 177054838 177054838 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:177054838G>T uc002ukv.3 + 2 1178 c.955G>T c.(955-957)GGC>TGC p.G319C HOXD1_uc010fqy.2_3'UTR|HOXD1_uc010zez.1_Missense_Mutation_p.G319C NM_024501 NP_078777 Q9GZZ0 HXD1_HUMAN homeobox D1 319 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226) Colorectal(32;0.0226) CAAGAACCCCGGCAGCCCTTC 0.587 NA 10 54 9.70103e-10 1.53276e-09 0.008291 1 0 TTN 7273 broad.mit.edu 37 2 179466465 179466465 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:179466465C>A uc010zfg.1 - 235 47872 c.47648G>T c.(47647-47649)CGA>CTA p.R15883L uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R9578L|TTN_uc010zfi.1_Missense_Mutation_p.R9511L|TTN_uc010zfj.1_Missense_Mutation_p.R9386L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 16810 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) TGTATGAGATCGTTTACACTC 0.363 NA 18 99 1.33834e-09 2.09242e-09 0.007413 1 0 TTN 7273 broad.mit.edu 37 2 179472235 179472235 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:179472235G>T uc010zfg.1 - 226 45700 c.45476C>A c.(45475-45477)TCT>TAT p.S15159Y uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S8854Y|TTN_uc010zfi.1_Missense_Mutation_p.S8787Y|TTN_uc010zfj.1_Missense_Mutation_p.S8662Y NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 16086 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) AATTAGTTCAGATTTGGTTCC 0.448 NA 10 421 1.58986e-06 2.20122e-06 0.008291 1 0 TTN 7273 broad.mit.edu 37 2 179594220 179594220 + Missense_Mutation SNP T T A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:179594220T>A uc010zfg.1 - 61 15155 c.14931A>T c.(14929-14931)GAA>GAT p.E4977D TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E1638D NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 5904 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) TTCCCGTAACTTCACACTCCA 0.443 NA 36 86 0 0 0.005524 0 0 TTN 7273 broad.mit.edu 37 2 179640809 179640809 + Missense_Mutation SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:179640809C>G uc010zfg.1 - 28 6006 c.5782G>C c.(5782-5784)GAG>CAG p.E1928Q TTN_uc010zfh.1_Missense_Mutation_p.E1882Q|TTN_uc010zfi.1_Missense_Mutation_p.E1882Q|TTN_uc010zfj.1_Missense_Mutation_p.E1882Q|TTN_uc002unb.2_Missense_Mutation_p.E1928Q|uc002unc.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 1928 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) TGTTGAATCTCAAGCTTCACT 0.458 NA 5 229 0 0 0.000602 0 0 TTN 7273 broad.mit.edu 37 2 179658174 179658174 + Missense_Mutation SNP A A T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:179658174A>T uc010zfg.1 - 9 1717 c.1493T>A c.(1492-1494)GTA>GAA p.V498E TTN_uc010zfh.1_Missense_Mutation_p.V498E|TTN_uc010zfi.1_Missense_Mutation_p.V498E|TTN_uc010zfj.1_Missense_Mutation_p.V498E|TTN_uc002unb.2_Missense_Mutation_p.V498E|TTN_uc010frg.1_Missense_Mutation_p.V172E NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 498 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) TGTGGTAATTACTTCTTTGGT 0.413 NA 10 99 0 0 0.000978 0 0 SESTD1 91404 broad.mit.edu 37 2 179979965 179979965 + Missense_Mutation SNP T T A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:179979965T>A uc002uni.3 - 16 1816 c.1666A>T c.(1666-1668)AGG>TGG p.R556W SESTD1_uc002unh.3_Missense_Mutation_p.R59W NM_178123 NP_835224 Q86VW0 SESD1_HUMAN SEC14 and spectrin domains 1 556 Spectrin 3. regulation of calcium ion transport via voltage-gated calcium channel activity phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147) AGCAACTGCCTGCCATAGTCA 0.418 NA 6 16 0 0 0.001168 0 0 PDE1A 5136 broad.mit.edu 37 2 183053759 183053759 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:183053759G>T uc002uos.2 - 12 1286 c.1202C>A c.(1201-1203)CCA>CAA p.P401Q PDE1A_uc010zfp.1_Missense_Mutation_p.P297Q|PDE1A_uc002uoq.1_Missense_Mutation_p.P401Q|PDE1A_uc010zfq.1_Missense_Mutation_p.P401Q|PDE1A_uc002uor.2_Missense_Mutation_p.P385Q|PDE1A_uc002uou.2_Missense_Mutation_p.P367Q NM_001003683 NP_001003683 P54750 PDE1A_HUMAN phosphodiesterase 1A isoform 2 401 Catalytic (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding skin(2)|ovary(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.061) TGGGGAAAATGGAAGCCCTAA 0.408 NA 43 117 5.20837e-25 1.02413e-24 0.00874 1 0 ZNF804A 91752 broad.mit.edu 37 2 185731213 185731213 + Missense_Mutation SNP A A G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:185731213A>G uc002uph.2 + 2 823 c.229A>G c.(229-231)AAT>GAT p.N77D NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 77 C2H2-type. intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 CAATCACATTAATTCATATGA 0.358 NA 8 48 0 0 0.004482 0 0 FAM171B 165215 broad.mit.edu 37 2 187627079 187627079 + Silent SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:187627079C>A uc002ups.2 + 8 2122 c.2010C>A c.(2008-2010)CCC>CCA p.P670P FAM171B_uc002upr.1_Silent_p.P637P|FAM171B_uc002upt.2_Silent_p.P139P NM_177454 NP_803237 Q6P995 F171B_HUMAN KIAA1946 670 Cytoplasmic (Potential). integral to membrane DNA binding ovary(6)|breast(3)|central_nervous_system(1) 10 CCCCGCATCCCAGAGCCTGGT 0.483 NA 25 95 7.87624e-14 1.38634e-13 0.00278 1 0 COL5A2 1290 broad.mit.edu 37 2 189917697 189917697 + Silent SNP T T A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:189917697T>A uc002uqk.2 - 39 2876 c.2601A>T c.(2599-2601)GGA>GGT p.G867G COL5A2_uc010frx.2_Silent_p.G443G NM_000393 NP_000384 P05997 CO5A2_HUMAN alpha 2 type V collagen preproprotein 867 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) CTCCCTTCTGTCCTGGCTCTC 0.433 NA 12 38 0 0 0.00245 0 0 STAT4 6775 broad.mit.edu 37 2 191895766 191895766 + Missense_Mutation SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:191895766G>A uc002usm.1 - 23 2406 c.2152C>T c.(2152-2154)CTT>TTT p.L718F STAT4_uc002usn.1_Missense_Mutation_p.L718F NM_003151 NP_003142 Q14765 STAT4_HUMAN signal transducer and activator of transcription 718 JAK-STAT cascade cytoplasm|nucleus calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(3)|skin(2)|lung(1)|ovary(1)|prostate(1)|pancreas(1) 9 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204) GACATGGGAAGAAGGTCTGAT 0.403 NA 7 212 0 0 0.004482 0 0 SATB2 23314 broad.mit.edu 37 2 200136964 200136964 + Silent SNP C C T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:200136964C>T uc002uuy.1 - 11 2989 c.2172G>A c.(2170-2172)AAG>AAA p.K724K SATB2_uc010fsq.1_Silent_p.K606K|SATB2_uc002uuz.1_Silent_p.K724K|SATB2_uc002uva.1_Silent_p.K724K NM_015265 NP_056080 Q9UPW6 SATB2_HUMAN SATB homeobox 2 724 cytoplasm|nuclear matrix sequence-specific DNA binding transcription factor activity ovary(1) 1 CAGGTGCTGCCTTGCTTTTGT 0.468 Colon(30;262 767 11040 24421 36230) NA 19 94 0 0 0.007413 0 0 NRP2 8828 broad.mit.edu 37 2 206659578 206659578 + Silent SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:206659578C>A uc002vaw.2 + 17 3383 c.2592C>A c.(2590-2592)CCC>CCA p.P864P NRP2_uc002vax.2_Silent_p.P859P|NRP2_uc002vay.2_Silent_p.P842P NM_201266 NP_957718 O60462 NRP2_HUMAN neuropilin 2 isoform 1 precursor 864 Extracellular (Potential). angiogenesis|axon guidance|cell adhesion integral to membrane|membrane fraction|plasma membrane heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 CCCTGGATCCCATCCTCATCA 0.587 NA 13 72 1.5842e-08 2.38251e-08 0.001855 1 0 CPS1 1373 broad.mit.edu 37 2 211525226 211525226 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:211525226G>T uc002vee.3 + 32 3906 c.3774G>T c.(3772-3774)TTG>TTT p.L1258F CPS1_uc010fur.2_Missense_Mutation_p.L1264F|CPS1_uc010fus.2_Missense_Mutation_p.L807F NM_001875 NP_001866 P31327 CPSM_HUMAN carbamoyl-phosphate synthetase 1 isoform b 1258 ATP-grasp 2. carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity ovary(8)|central_nervous_system(3)|breast(1)|skin(1) 13 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) AGTGTAACTTGAGAGCTTCTC 0.403 NA 37 149 5.04308e-16 9.18976e-16 0.00623 1 0 RUFY4 285180 broad.mit.edu 37 2 218947967 218947967 + Missense_Mutation SNP T T C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:218947967T>C uc002vgw.2 + 12 2815 c.971T>C c.(970-972)TTG>TCG p.L324S RUFY4_uc002vgy.1_RNA|RUFY4_uc010fvl.1_Missense_Mutation_p.L324S NM_198483 NP_940885 Q6ZNE9 RUFY4_HUMAN RUN and FYVE domain containing 4 497 FYVE-type. metal ion binding pancreas(1) 1 Renal(207;0.0915) Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) AGGCGGGTGTTGGAACTGATC 0.582 NA 8 48 0 0 0.004482 0 0 C2orf24 27013 broad.mit.edu 37 2 220039790 220039790 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:220039790C>A uc002vju.3 - 4 453 c.301G>T c.(301-303)GTG>TTG p.V101L C2orf24_uc002vjv.2_Missense_Mutation_p.V101L NM_015680 NP_056495 Q9BV87 CNPD1_HUMAN hypothetical protein LOC27013 101 regulation of cyclin-dependent protein kinase activity integral to membrane protein kinase binding 0 Renal(207;0.0915) Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TCAATGTACACCAGAGCCAGC 0.517 NA 20 40 1.56452e-12 2.64963e-12 0.007413 1 0 DNAJB2 3300 broad.mit.edu 37 2 220149365 220149365 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:220149365G>T uc002vkx.1 + 9 868 c.631G>T c.(631-633)GAC>TAC p.D211Y DNAJB2_uc002vkw.1_Missense_Mutation_p.D211Y|DNAJB2_uc002vky.2_Missense_Mutation_p.D27Y|DNAJB2_uc010zlb.1_Missense_Mutation_p.D27Y NM_006736 NP_006727 P25686 DNJB2_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 2 211 UIM 1. ER-associated protein catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|negative regulation of protein deubiquitination|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding|response to unfolded protein inclusion body heat shock protein binding|Hsp70 protein binding|polyubiquitin binding|proteasome binding|protein binding|unfolded protein binding 0 Renal(207;0.0474) Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TGTCCCAGATGACCTGGCACT 0.622 NA 11 32 0.00829132 0.00946874 0.008291 1 0 ACCN4 55515 broad.mit.edu 37 2 220401832 220401832 + Missense_Mutation SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:220401832C>G uc002vma.2 + 6 1612 c.1598C>G c.(1597-1599)TCT>TGT p.S533C ACCN4_uc002vlz.2_Missense_Mutation_p.S552C|ACCN4_uc002vmb.2_Missense_Mutation_p.S206C NM_182847 NP_878267 Q96FT7 ACCN4_HUMAN amiloride-sensitive cation channel 4 isoform 2 533 Extracellular (Potential). integral to plasma membrane sodium channel activity|sodium ion transmembrane transporter activity ovary(2) 2 Renal(207;0.0183) Epithelial(149;5.47e-10)|all cancers(144;9e-08)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.0086)|READ - Rectum adenocarcinoma(5;0.156) GCCCTGACCTCTGAAGCCATG 0.627 NA 4 51 0 0 0.000602 0 0 SCG2 7857 broad.mit.edu 37 2 224463909 224463909 + Missense_Mutation SNP T T G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:224463909T>G uc002vnm.2 - 2 225 c.92A>C c.(91-93)CAG>CCG p.Q31P NM_003469 NP_003460 P13521 SCG2_HUMAN secretogranin II precursor 31 angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion extracellular space|stored secretory granule chemoattractant activity|cytokine activity ovary(1) 1 Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271) Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008) CTGGTTTCTCTGAAATGAAGC 0.458 NA 4 103 0 0 0.000248 0 0 SLC19A3 80704 broad.mit.edu 37 2 228560738 228560738 + Missense_Mutation SNP G G C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:228560738G>C uc002vpi.2 - 4 1128 c.1039C>G c.(1039-1041)CTG>GTG p.L347V SLC19A3_uc002vpj.2_RNA|SLC19A3_uc010zlv.1_Missense_Mutation_p.L343V NM_025243 NP_079519 Q9BZV2 S19A3_HUMAN solute carrier family 19, member 3 347 Helical; (Potential). thiamine-containing compound metabolic process integral to membrane|plasma membrane folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity ovary(2) 2 Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236) Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125) L-Cysteine(DB00151) ACCAGAGCCAGCTCTCCCAGA 0.448 NA 23 45 0 0 0.002299 0 0 GPR55 9290 broad.mit.edu 37 2 231775329 231775329 + Missense_Mutation SNP T T G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:231775329T>G uc002vrg.2 - 2 542 c.349A>C c.(349-351)ATG>CTG p.M117L GPR55_uc002vrf.2_RNA|GPR55_uc010fxs.1_Missense_Mutation_p.M117L NM_005683 NP_005674 Q9Y2T6 GPR55_HUMAN G protein-coupled receptor 55 117 Cytoplasmic (Potential). activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction integral to plasma membrane cannabinoid receptor activity ovary(1) 1 Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204) Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145) AACCGGTCCATGCTGATGAAG 0.592 NA 11 28 0 0 0.001368 0 0 UGT1A5 54579 broad.mit.edu 37 2 234677057 234677057 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:234677057G>T uc002vuw.2 + 4 1279 c.1279G>T c.(1279-1281)GCT>TCT p.A427S UGT1A8_uc010zmv.1_Missense_Mutation_p.A423S|UGT1A8_uc002vup.2_Missense_Mutation_p.A423S|UGT1A10_uc002vuq.3_Missense_Mutation_p.A423S|UGT1A10_uc002vur.2_Missense_Mutation_p.A423S|UGT1A9_uc010zmw.1_Missense_Mutation_p.A423S|UGT1A9_uc002vus.2_Missense_Mutation_p.A423S|UGT1A7_uc010zmx.1_Missense_Mutation_p.A423S|UGT1A7_uc002vut.2_Missense_Mutation_p.A423S|UGT1A6_uc002vuu.2_Missense_Mutation_p.A158S|UGT1A6_uc010zmy.1_Missense_Mutation_p.A425S|UGT1A6_uc002vuv.3_Missense_Mutation_p.A425S|UGT1A5_uc010zmz.1_Missense_Mutation_p.A427S|UGT1A4_uc010zna.1_Missense_Mutation_p.A427S|UGT1A4_uc002vux.2_Missense_Mutation_p.A427S|UGT1A3_uc010znb.1_Missense_Mutation_p.A427S|UGT1A3_uc002vuy.2_Missense_Mutation_p.A427S|UGT1A9_uc002vva.2_RNA|UGT1A1_uc010znc.1_Missense_Mutation_p.A426S|UGT1A1_uc002vvb.2_Missense_Mutation_p.A426S NM_019078 NP_061951 P35504 UD15_HUMAN UDP glycosyltransferase 1 family, polypeptide A5 427 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(1) 1 Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128) Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645) TTTAGAAAATGCTCTAAAAGC 0.368 NA 5 19 1.024e-07 1.49157e-07 0.000602 1 0 GBX2 2637 broad.mit.edu 37 2 237076108 237076108 + Silent SNP C C T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:237076108C>T uc002vvw.1 - 1 545 c.507G>A c.(505-507)ACG>ACA p.T169T GBX2_uc010zng.1_Silent_p.T159T NM_001485 NP_001476 P52951 GBX2_HUMAN gastrulation brain homeo box 2 169 LPPAHPHHQIPSLPTGFCSSLAQGMALTSTLMATLPGGFSA SPQHQEAAAARKFAPQPLPGGGNFDKAEALQADAEDGKGFL AKEGSLLAFSAAETVQASLVGAVRGQGKDESKVEDDPKG -> CRPHTLTTRSPACPQASAPAWRRAWRSPLRSWPRSPAA SPRRPSTRRRQRPASSRRSRCPAAVTSTRRRRCRLTRRTAK ASWPKRARCSPSPRPRRCRLRSSGLSEGKGKTSQRWKTTRS (in Ref. 1; AAC03241). nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179) Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471) AAGCCTGCACCGTCTCGGCCG 0.736 NA 6 9 0 0 0.00308 0 0 COL6A3 1293 broad.mit.edu 37 2 238305434 238305434 + Missense_Mutation SNP T T A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:238305434T>A uc002vwl.2 - 2 312 c.27A>T c.(25-27)TTA>TTT p.L9F COL6A3_uc002vwo.2_Missense_Mutation_p.L9F|COL6A3_uc010znj.1_Missense_Mutation_p.L9F|COL6A3_uc002vwq.2_Missense_Mutation_p.L9F|COL6A3_uc002vwr.2_Missense_Mutation_p.L9F|COL6A3_uc010znk.1_Missense_Mutation_p.L9F NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 9 axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) AGACGGCCACTAAGGGCAAGT 0.438 NA 19 46 0 0 0.007413 0 0 RAMP1 10267 broad.mit.edu 37 2 238785925 238785925 + Nonsense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:238785925G>T uc002vxj.2 + 2 244 c.112G>T c.(112-114)GAG>TAG p.E38* NM_005855 NP_005846 O60894 RAMP1_HUMAN receptor activity-modifying protein 1 precursor 38 Extracellular (Potential). intracellular protein transport|regulation of G-protein coupled receptor protein signaling pathway integral to plasma membrane protein transporter activity 0 Breast(86;0.000596)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;9.56e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.49e-11)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.49e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00013)|Lung(119;0.0119)|LUSC - Lung squamous cell carcinoma(224;0.0288) Pramlintide(DB01278) CCTCCTCCGGGAGCTCTGCCT 0.627 NSCLC(177;211 2889 43936 50767) NA 9 61 3.86212e-05 4.87942e-05 0.008291 1 0 TRAF3IP1 26146 broad.mit.edu 37 2 239237914 239237914 + Silent SNP G G C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:239237914G>C uc002vye.2 + 5 965 c.846G>C c.(844-846)GTG>GTC p.V282V TRAF3IP1_uc002vyf.2_Silent_p.V282V NM_015650 NP_056465 Q8TDR0 MIPT3_HUMAN TNF receptor-associated factor 3 interacting 282 Abolishes microtubules-binding when missing.|DISC1-interaction domain. cytoplasm|cytoskeleton protein binding ovary(1) 1 all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182) Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184) gacggagagtgaaaaacgggg 0.219 NA 4 49 0 0 0.000602 0 0 OR6B2 389090 broad.mit.edu 37 2 240969652 240969653 + Nonsense_Mutation DNP GG GG TT TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:240969652_240969653GG>TT uc002vyr.2 - 2 240_241 c.194_195CC>AA c.(193-195)TCC>TAA p.S65* OR6B2_uc010zoc.1_Nonsense_Mutation_p.S65* NM_001005853 NP_001005853 Q6IFH4 OR6B2_HUMAN olfactory receptor, family 6, subfamily B, 65 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238) Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148) GGAAAGACATGGAGCTCAGAAA 0.554 NA 13 84 0 0 0.004672 0 0 HDLBP 3069 broad.mit.edu 37 2 242195624 242195624 + Missense_Mutation SNP C C T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:242195624C>T uc002waz.2 - 7 1076 c.848G>A c.(847-849)CGC>CAC p.R283H HDLBP_uc002wba.2_Missense_Mutation_p.R283H|HDLBP_uc002wbb.2_Missense_Mutation_p.R304H|HDLBP_uc010fzn.1_Missense_Mutation_p.R35H NM_203346 NP_976221 Q00341 VIGLN_HUMAN high density lipoprotein binding protein 283 KH 2. cholesterol metabolic process|lipid transport cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane lipid binding|protein binding|RNA binding breast(3)|skin(1) 4 all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928) CTTCTTGATGCGAGCCACAGC 0.512 NA 7 54 0 0 0.001984 0 0 ING5 84289 broad.mit.edu 37 2 242650848 242650848 + Silent SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:242650848G>A uc002wcd.2 + 4 358 c.333G>A c.(331-333)CTG>CTA p.L111L ING5_uc002wcc.1_Silent_p.L111L NM_032329 NP_115705 Q8WYH8 ING5_HUMAN inhibitor of growth family, member 5 111 DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex protein binding|zinc ion 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;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839) AAGCAGATCTGAAGGACAAGA 0.383 NA 6 188 0 0 0.004482 0 0 D2HGDH 728294 broad.mit.edu 37 2 242690681 242690681 + Missense_Mutation SNP A A G rs149383887 by1000genomes TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:242690681A>G uc002wce.1 + 8 1191 c.1018A>G c.(1018-1020)ATC>GTC p.I340V D2HGDH_uc010zpc.1_RNA|D2HGDH_uc010fzq.1_Missense_Mutation_p.I206V|D2HGDH_uc002wcg.1_Intron|D2HGDH_uc002wch.2_Intron|D2HGDH_uc002wci.2_Missense_Mutation_p.I39V NM_152783 NP_689996 Q8N465 D2HDH_HUMAN D-2-hydroxyglutarate dehydrogenase precursor 340 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) TTACGTCCTCATCGAGACTTC 0.622 NA 15 30 0 0 0.00499 0 0 PRND 23627 broad.mit.edu 37 20 4705237 4705237 + Missense_Mutation SNP T T A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr20:4705237T>A uc002wkz.2 + 2 111 c.40T>A c.(40-42)TGC>AGC p.C14S NM_012409 NP_036541 Q9UKY0 PRND_HUMAN prion-like protein doppel preproprotein 14 protein homooligomerization anchored to membrane|plasma membrane 0 GGCCACTGTCTGCATGCTGCT 0.632 NA 18 39 0 0 0.007413 0 0 NINL 22981 broad.mit.edu 37 20 25472120 25472120 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr20:25472120C>A uc002wux.1 - 11 1426 c.1352G>T c.(1351-1353)CGG>CTG p.R451L NINL_uc010gdn.1_Missense_Mutation_p.R451L|NINL_uc010gdo.1_Missense_Mutation_p.R234L|NINL_uc010ztf.1_Missense_Mutation_p.R467L NM_025176 NP_079452 Q9Y2I6 NINL_HUMAN ninein-like 451 G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 CACCTCAGACCGCAGGAGGCT 0.657 NA 18 79 1.33834e-09 2.09242e-09 0.007413 1 0 NINL 22981 broad.mit.edu 37 20 25491358 25491358 + Missense_Mutation SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr20:25491358C>G uc002wux.1 - 5 543 c.469G>C c.(469-471)GAG>CAG p.E157Q NINL_uc010gdn.1_Missense_Mutation_p.E157Q|NINL_uc010gdo.1_5'UTR|NINL_uc010ztf.1_Missense_Mutation_p.E173Q NM_025176 NP_079452 Q9Y2I6 NINL_HUMAN ninein-like 157 G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 CTCTCGGCCTCTTCATCTGAC 0.512 NA 3 109 0 0 0.004672 0 0 DEFB121 245934 broad.mit.edu 37 20 29992817 29992817 + Missense_Mutation SNP A A G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr20:29992817A>G uc002wvv.1 - 2 166 c.130T>C c.(130-132)TGC>CGC p.C44R NM_001011878 NP_001011878 Q5J5C9 DB121_HUMAN defensin, beta 121 precursor 44 defense response to bacterium extracellular region 0 all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) TCAGTTTTGCATAATATATAG 0.388 NA 10 46 0 0 0.008291 0 0 MYLK2 85366 broad.mit.edu 37 20 30411373 30411373 + Missense_Mutation SNP A A T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr20:30411373A>T uc002wwq.2 + 5 968 c.866A>T c.(865-867)GAG>GTG p.E289V NM_033118 NP_149109 Q9H1R3 MYLK2_HUMAN skeletal myosin light chain kinase 289 Protein kinase. cardiac muscle tissue morphogenesis|regulation of muscle filament sliding ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity lung(2)|skin(2)|ovary(1)|central_nervous_system(1) 6 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) AACTCCAAGGAGGCGCTCGGA 0.617 NA OREG0025856 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 55 0 0 0.003163 0 0 HCK 3055 broad.mit.edu 37 20 30659562 30659562 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr20:30659562G>T uc002wxh.2 + 2 331 c.160G>T c.(160-162)GAT>TAT p.D54Y HCK_uc010gdy.2_Missense_Mutation_p.D33Y|HCK_uc002wxi.2_Missense_Mutation_p.D33Y NM_002110 NP_002101 P08631 HCK_HUMAN hemopoietic cell kinase isoform p61HCK 54 interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction caveola|cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(4)|ovary(2)|central_nervous_system(2)|pancreas(1) 9 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) GTACGTGCCGGATCCCACATC 0.577 NA 5 19 1.23904e-05 1.62503e-05 0.000602 1 0 KIF3B 9371 broad.mit.edu 37 20 30898583 30898583 + Missense_Mutation SNP A A T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr20:30898583A>T uc002wxq.2 + 2 1170 c.1003A>T c.(1003-1005)AAC>TAC p.N335Y KIF3B_uc010ztv.1_Missense_Mutation_p.N335Y|KIF3B_uc010ztw.1_Missense_Mutation_p.N335Y NM_004798 NP_004789 O15066 KIF3B_HUMAN kinesin family member 3B 335 Kinesin-motor. anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding central_nervous_system(3)|ovary(2) 5 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) GCGATATGCCAACCGTGCCAA 0.527 NA 11 49 0 0 0.001368 0 0 PLUNC 51297 broad.mit.edu 37 20 31827694 31827694 + Missense_Mutation SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr20:31827694G>A uc002wyv.2 + 4 476 c.406G>A c.(406-408)GGC>AGC p.G136S PLUNC_uc002wyt.3_Missense_Mutation_p.G136S|PLUNC_uc002wyu.3_Missense_Mutation_p.G136S NM_130852 NP_570913 Q9NP55 PLUNC_HUMAN palate, lung and nasal epithelium associated 136 innate immune response extracellular region lipid binding 0 CATCCCTCTCGGCATAAAGCT 0.458 NA 39 100 0 0 0.00623 0 0 GDF5 8200 broad.mit.edu 37 20 34021970 34021970 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr20:34021970C>A uc002xck.1 - 2 1562 c.1243G>T c.(1243-1245)GAC>TAC p.D415Y GDF5_uc010gfc.1_Missense_Mutation_p.D415Y|uc002xcj.2_Silent_p.V127V|GDF5_uc010zvc.1_Missense_Mutation_p.D415Y NM_000557 NP_000548 P43026 GDF5_HUMAN growth differentiation factor 5 preproprotein 415 cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity 0 Lung NSC(9;0.00642)|all_lung(11;0.0094) BRCA - Breast invasive adenocarcinoma(18;0.00663) ATCCAGTCGTCCCAGCCCATG 0.612 NA 23 54 1.96895e-08 2.93811e-08 0.00278 1 0 NDRG3 57446 broad.mit.edu 37 20 35350115 35350115 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr20:35350115C>A uc002xfw.2 - 2 106 c.24G>T c.(22-24)CAG>CAT p.Q8H NDRG3_uc002xfx.2_Missense_Mutation_p.Q8H|NDRG3_uc010zvq.1_5'UTR|NDRG3_uc010zvr.1_5'UTR NM_032013 NP_114402 Q9UGV2 NDRG3_HUMAN N-myc downstream regulated gene 3 isoform a 8 cell differentiation|negative regulation of cell growth|spermatogenesis cytoplasm ovary(1) 1 Myeloproliferative disorder(115;0.00878) TCTCTGTGAGCTGAACATCCT 0.343 NA 15 39 5.01169e-05 6.31398e-05 0.00499 1 0 HNF4A 3172 broad.mit.edu 37 20 43034763 43034763 + Missense_Mutation SNP G G C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr20:43034763G>C uc002xma.2 + 2 270 c.181G>C c.(181-183)GCC>CCC p.A61P HNF4A_uc010zwo.1_Silent_p.V51V|HNF4A_uc002xlt.2_Missense_Mutation_p.A39P|HNF4A_uc002xlu.2_Missense_Mutation_p.A39P|HNF4A_uc002xlv.2_Missense_Mutation_p.A39P|HNF4A_uc002xly.2_Missense_Mutation_p.A61P|HNF4A_uc002xlz.2_Missense_Mutation_p.A61P|HNF4A_uc010ggq.2_Missense_Mutation_p.A54P NM_000457 NP_000448 P41235 HNF4A_HUMAN hepatocyte nuclear factor 4 alpha isoform b 61 Nuclear receptor.|NR C4-type. blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process cytoplasm activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding ovary(1)|lung(1)|skin(1) 3 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) CGCCCTGTGTGCCATCTGCGG 0.632 Colon(79;2 1269 8820 14841 52347) NA 13 123 0 0 0.001855 0 0 ZSWIM3 140831 broad.mit.edu 37 20 44505942 44505942 + Missense_Mutation SNP G G C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr20:44505942G>C uc002xqd.2 + 2 948 c.745G>C c.(745-747)GTG>CTG p.V249L ZSWIM3_uc010zxg.1_Missense_Mutation_p.V243L NM_080752 NP_542790 Q96MP5 ZSWM3_HUMAN zinc finger, SWIM domain containing 3 249 zinc ion binding ovary(2) 2 Myeloproliferative disorder(115;0.0122) AAGTCGAGTGGTGCACTTTGC 0.542 NA 20 53 0 0 0.001523 0 0 PREX1 57580 broad.mit.edu 37 20 47267939 47267939 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr20:47267939C>A uc002xtw.1 - 22 2673 c.2650G>T c.(2650-2652)GCC>TCC p.A884S PREX1_uc002xtv.1_Missense_Mutation_p.A181S NM_020820 NP_065871 Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4, 884 actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity lung(3)|ovary(2)|pancreas(1) 6 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) GAGACCTTGGCGGTGAGGCCG 0.617 NA 7 29 1.06961e-07 1.55129e-07 0.00308 1 0 PREX1 57580 broad.mit.edu 37 20 47273692 47273692 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr20:47273692G>T uc002xtw.1 - 18 2032 c.2009C>A c.(2008-2010)TCC>TAC p.S670Y PREX1_uc002xtv.1_5'Flank NM_020820 NP_065871 Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4, 670 PDZ. actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity lung(3)|ovary(2)|pancreas(1) 6 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) CTCATTGATGGAGTAGATCTT 0.617 NA OREG0026010 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 23 0.000602214 0.000715729 0.000602 1 0 KCNG1 3755 broad.mit.edu 37 20 49626434 49626434 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr20:49626434G>T uc002xwa.3 - 2 737 c.442C>A c.(442-444)CAG>AAG p.Q148K KCNG1_uc002xwb.2_Missense_Mutation_p.Q148K NM_002237 NP_002228 Q9UIX4 KCNG1_HUMAN potassium voltage-gated channel, subfamily G, 148 Cytoplasmic (Potential). voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(1)|central_nervous_system(1) 2 AGCTCCTCCTGGAAGGACAGC 0.652 NA 16 29 9.16793e-09 1.38968e-08 0.00499 1 0 ATP9A 10079 broad.mit.edu 37 20 50292705 50292705 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr20:50292705C>A uc002xwg.1 - 10 842 c.842G>T c.(841-843)CGG>CTG p.R281L ATP9A_uc010gih.1_Missense_Mutation_p.R145L|ATP9A_uc002xwf.1_5'UTR NM_006045 NP_006036 O75110 ATP9A_HUMAN ATPase, class II, type 9A 281 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(4) 4 CATGACACTCCGGAGTTCTCT 0.428 NA 10 35 2.17888e-05 2.81911e-05 0.006214 1 0 TSHZ2 128553 broad.mit.edu 37 20 51873022 51873022 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr20:51873022G>T uc002xwo.2 + 2 3981 c.3025G>T c.(3025-3027)GTA>TTA p.V1009L NM_173485 NP_775756 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 1009 C2H2-type 5. multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|haematopoietic_and_lymphoid_tissue(1) 6 STAD - Stomach adenocarcinoma(23;0.1) CAAACATGCGGTAAAACTCCA 0.473 NA 23 73 2.89027e-11 4.77445e-11 0.002299 1 0 BCAS1 8537 broad.mit.edu 37 20 52645173 52645173 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr20:52645173C>A uc002xws.2 - 4 819 c.481G>T c.(481-483)GAC>TAC p.D161Y BCAS1_uc010zzb.1_Missense_Mutation_p.D64Y|BCAS1_uc010gim.2_Missense_Mutation_p.D64Y|BCAS1_uc002xwt.2_Missense_Mutation_p.D161Y|BCAS1_uc010gil.1_Missense_Mutation_p.D161Y|BCAS1_uc010zzc.1_Missense_Mutation_p.D64Y NM_003657 NP_003648 O75363 BCAS1_HUMAN breast carcinoma amplified sequence 1 161 cytoplasm protein binding ovary(2)|central_nervous_system(1) 3 Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05) STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198) AGGACCTTGTCTTGGGCCGGG 0.622 NA 8 57 1.12685e-05 1.48953e-05 0.004482 1 0 BCAS1 8537 broad.mit.edu 37 20 52645175 52645175 + Missense_Mutation SNP T T G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr20:52645175T>G uc002xws.2 - 4 817 c.479A>C c.(478-480)CAA>CCA p.Q160P BCAS1_uc010zzb.1_Missense_Mutation_p.Q63P|BCAS1_uc010gim.2_Missense_Mutation_p.Q63P|BCAS1_uc002xwt.2_Missense_Mutation_p.Q160P|BCAS1_uc010gil.1_Missense_Mutation_p.Q160P|BCAS1_uc010zzc.1_Missense_Mutation_p.Q63P NM_003657 NP_003648 O75363 BCAS1_HUMAN breast carcinoma amplified sequence 1 160 cytoplasm protein binding ovary(2)|central_nervous_system(1) 3 Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05) STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198) GACCTTGTCTTGGGCCGGGGC 0.622 NA 8 56 0 0 0.004482 0 0 CTCFL 140690 broad.mit.edu 37 20 56098847 56098847 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr20:56098847G>T uc010gix.1 - 1 1077 c.415C>A c.(415-417)CAG>AAG p.Q139K CTCFL_uc010giw.1_Missense_Mutation_p.Q139K|CTCFL_uc002xym.2_Missense_Mutation_p.Q139K|CTCFL_uc010giz.1_Intron|CTCFL_uc010giy.1_Intron|CTCFL_uc010gja.1_Missense_Mutation_p.Q139K|CTCFL_uc010gjb.1_Missense_Mutation_p.Q139K|CTCFL_uc010gjc.1_Missense_Mutation_p.Q139K|CTCFL_uc010gjd.1_Missense_Mutation_p.Q139K|CTCFL_uc010gje.2_Missense_Mutation_p.Q139K|CTCFL_uc010gjf.2_Intron|CTCFL_uc010gjg.2_Intron|CTCFL_uc010gjh.1_Missense_Mutation_p.Q139K|CTCFL_uc010gji.1_Intron|CTCFL_uc010gjj.1_Missense_Mutation_p.Q139K|CTCFL_uc010gjk.1_Missense_Mutation_p.Q139K|CTCFL_uc010gjl.1_Missense_Mutation_p.Q139K NM_080618 NP_542185 Q8NI51 CTCFL_HUMAN CCCTC-binding factor-like protein 139 cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent cytoplasm|nucleus histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding ovary(2)|large_intestine(1)|skin(1) 4 Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07) AGCTCTTGCTGGATACTAATG 0.582 NA 27 91 3.73988e-18 7.04441e-18 0.00632 1 0 PCK1 5105 broad.mit.edu 37 20 56137200 56137200 + Missense_Mutation SNP A A G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr20:56137200A>G uc002xyn.3 + 3 461 c.298A>G c.(298-300)AGA>GGA p.R100G PCK1_uc010zzm.1_Intron NM_002591 NP_002582 P35558 PCKGC_HUMAN cytosolic phosphoenolpyruvate carboxykinase 1 100 gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus cytosol|nucleus carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity skin(1) 1 Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07) CCAAGAGCAAAGAGACACAGT 0.547 NA 6 50 0 0 0.001984 0 0 PMEPA1 56937 broad.mit.edu 37 20 56227368 56227368 + Missense_Mutation SNP A A C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr20:56227368A>C uc002xyq.2 - 4 998 c.605T>G c.(604-606)CTG>CGG p.L202R PMEPA1_uc002xyr.2_Missense_Mutation_p.L152R|PMEPA1_uc002xys.2_Missense_Mutation_p.L167R|PMEPA1_uc002xyt.2_Missense_Mutation_p.L152R NM_020182 NP_064567 Q969W9 PMEPA_HUMAN transmembrane prostate androgen-induced protein 202 Cytoplasmic (Potential). androgen receptor signaling pathway integral to membrane|plasma membrane WW domain binding pancreas(1) 1 GGGGCCGCCCAGCCTGGCACT 0.687 NA 9 41 0 0 0.008291 0 0 SS18L1 26039 broad.mit.edu 37 20 60737876 60737876 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr20:60737876G>T uc002ycb.2 + 5 500 c.445G>T c.(445-447)GGG>TGG p.G149W SS18L1_uc011aaa.1_Missense_Mutation_p.G149W|SS18L1_uc002ybz.1_RNA|SS18L1_uc002yca.1_RNA|SS18L1_uc002ycc.1_RNA NM_198935 NP_945173 O75177 CREST_HUMAN SS18-like protein 1 149 Methionine-rich intra-molecular domain (By similarity). chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent condensed chromosome kinetochore ovary(2) 2 Breast(26;3.97e-09) BRCA - Breast invasive adenocarcinoma(19;1.92e-08) GAGCATCTCTGGGCCCGGCTA 0.662 NA T SSX1 synovial sarcoma 6 24 3.59834e-05 4.57629e-05 0.001168 1 0 SS18L1 26039 broad.mit.edu 37 20 60737878 60737878 + Silent SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr20:60737878G>T uc002ycb.2 + 5 502 c.447G>T c.(445-447)GGG>GGT p.G149G SS18L1_uc011aaa.1_Silent_p.G149G|SS18L1_uc002ybz.1_RNA|SS18L1_uc002yca.1_RNA|SS18L1_uc002ycc.1_RNA NM_198935 NP_945173 O75177 CREST_HUMAN SS18-like protein 1 149 Methionine-rich intra-molecular domain (By similarity). chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent condensed chromosome kinetochore ovary(2) 2 Breast(26;3.97e-09) BRCA - Breast invasive adenocarcinoma(19;1.92e-08) GCATCTCTGGGCCCGGCTACA 0.662 NA T SSX1 synovial sarcoma 6 24 3.59834e-05 4.57629e-05 0.001168 1 0 COL9A3 1299 broad.mit.edu 37 20 61453473 61453473 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr20:61453473G>T uc002ydm.2 + 9 437 c.434G>T c.(433-435)GGA>GTA p.G145V NM_001853 NP_001844 Q14050 CO9A3_HUMAN alpha 3 type IX collagen precursor 145 Triple-helical region 3 (COL3). axon guidance collagen type IX 0 Breast(26;5.68e-08) GGACCTTCTGGACTCCCCGGC 0.652 NA 12 51 9.31168e-06 1.24063e-05 0.001855 1 0 TPTE 7179 broad.mit.edu 37 21 10934082 10934082 + Missense_Mutation SNP C C A rs139617622 TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr21:10934082C>A uc002yip.1 - 16 1263 c.895G>T c.(895-897)GTC>TTC p.V299F TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.V281F|TPTE_uc002yir.1_Missense_Mutation_p.V261F|TPTE_uc010gkv.1_Missense_Mutation_p.V161F NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 299 Phosphatase tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ATTCTAACGACCCTATTATGG 0.328 NA 31 220 2.42023e-17 4.48946e-17 0.003271 1 0 CXADR 1525 broad.mit.edu 37 21 18924196 18924196 + Missense_Mutation SNP G G C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr21:18924196G>C uc002yki.2 + 3 458 c.340G>C c.(340-342)GAT>CAT p.D114H CXADR_uc002ykh.1_Missense_Mutation_p.D114H|CXADR_uc010gld.1_Missense_Mutation_p.D114H|CXADR_uc010gle.1_Intron|CXADR_uc002ykj.1_Missense_Mutation_p.D87H NM_001338 NP_001329 P78310 CXAR_HUMAN coxsackie virus and adenovirus receptor 114 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) ACAACTGTCAGATATTGGCAC 0.348 NA 3 40 0 0 0.000602 0 0 CCT8 10694 broad.mit.edu 37 21 30441752 30441752 + Missense_Mutation SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr21:30441752C>G uc002ynb.2 - 3 322 c.223G>C c.(223-225)GAA>CAA p.E75Q CCT8_uc011acp.1_Missense_Mutation_p.E56Q|CCT8_uc002yna.2_Missense_Mutation_p.E24Q|CCT8_uc002ync.2_Missense_Mutation_p.E75Q|CCT8_uc010glm.2_Missense_Mutation_p.E75Q|CCT8_uc011acq.1_Intron NM_006585 NP_006576 P50990 TCPQ_HUMAN chaperonin containing TCP1, subunit 8 (theta) 75 'de novo' posttranslational protein folding aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center ATP binding|ATPase activity, coupled|unfolded protein binding 0 ACTTCTAGTTCTCTTAAAATA 0.284 NA 5 52 0 0 0.001984 0 0 TIAM1 7074 broad.mit.edu 37 21 32526583 32526583 + Silent SNP C C T rs147935563 byFrequency TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr21:32526583C>T uc002yow.1 - 18 3625 c.3153G>A c.(3151-3153)ACG>ACA p.T1051T TIAM1_uc011adk.1_Silent_p.T1051T|TIAM1_uc011adl.1_Silent_p.T991T NM_003253 NP_003244 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 1051 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity lung(3)|breast(3)|ovary(2)|large_intestine(2) 10 AGGTGCGCTCCGTCTCCAGGA 0.557 NA 7 43 0 0 0.001984 0 0 WDR4 10785 broad.mit.edu 37 21 44283572 44283572 + Missense_Mutation SNP T T G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr21:44283572T>G uc002zci.2 - 4 504 c.431A>C c.(430-432)CAC>CCC p.H144P WDR4_uc002zck.1_Missense_Mutation_p.H144P|WDR4_uc002zcl.1_5'UTR|WDR4_uc010gpg.1_Missense_Mutation_p.H144P|WDR4_uc011aew.1_5'UTR|WDR4_uc010gph.1_5'UTR NM_033661 NP_387510 P57081 WDR4_HUMAN WD repeat domain 4 protein 144 WD 2. tRNA modification cytoplasm|nucleoplasm protein binding ovary(1) 1 Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244) CATAGACAGGTGCCCCAGCTC 0.607 NA 4 21 0 0 0.000248 0 0 TRPM2 7226 broad.mit.edu 37 21 45861640 45861640 + Silent SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr21:45861640C>G uc002zet.1 + 33 4665 c.4452C>G c.(4450-4452)CTC>CTG p.L1484L TRPM2_uc002zeu.1_Silent_p.L1484L|TRPM2_uc002zew.1_Silent_p.L1484L|TRPM2_uc010gpt.1_Silent_p.L1534L|TRPM2_uc002zex.1_Silent_p.L1270L|TRPM2_uc002zey.1_Silent_p.L963L|TRPM2_uc011aff.1_Silent_p.L165L NM_003307 NP_003298 O94759 TRPM2_HUMAN transient receptor potential cation channel, 1484 Nudix hydrolase.|Cytoplasmic (Potential). integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 GCATCCCACTCTATGCGAACC 0.642 NA 9 18 0 0 0.004482 0 0 POFUT2 23275 broad.mit.edu 37 21 46687515 46687515 + Missense_Mutation SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr21:46687515C>G uc002zhc.2 - 8 1151 c.1126G>C c.(1126-1128)GCA>CCA p.A376P POFUT2_uc002zha.2_RNA|POFUT2_uc002zhb.2_RNA|POFUT2_uc002zhd.2_Missense_Mutation_p.A376P NM_133635 NP_598368 Q9Y2G5 OFUT2_HUMAN protein O-fucosyltransferase 2 isoform C 376 fucose metabolic process endoplasmic reticulum peptide-O-fucosyltransferase activity 0 Colorectal(79;0.243) CTGGCGTGTGCGCAGATCCAC 0.572 NA 16 69 0 0 0.004007 0 0 MICAL3 57553 broad.mit.edu 37 22 18304813 18304813 + Missense_Mutation SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr22:18304813G>A uc002zng.3 - 24 3784 c.3431C>T c.(3430-3432)CCG>CTG p.P1144L MICAL3_uc011agl.1_Missense_Mutation_p.P1060L NM_015241 NP_056056 Q7RTP6 MICA3_HUMAN microtubule associated monoxygenase, calponin 1144 Pro-rich. cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding 0 all_epithelial(15;0.198) Lung(27;0.0427) TTGGTGCTTCGGTGAGGCGGG 0.582 NA 11 85 0 0 0.00245 0 0 CLTCL1 8218 broad.mit.edu 37 22 19175534 19175534 + Missense_Mutation SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr22:19175534C>G uc002zpb.2 - 29 4468 c.4393G>C c.(4393-4395)GAG>CAG p.E1465Q CLTCL1_uc011agv.1_Missense_Mutation_p.E1465Q|CLTCL1_uc011agw.1_Missense_Mutation_p.E1444Q|CLTCL1_uc011agt.1_Missense_Mutation_p.E256Q|CLTCL1_uc011agu.1_Intron NM_007098 NP_009029 P53675 CLH2_HUMAN clathrin, heavy polypeptide-like 1 isoform 1 1465 Involved in binding clathrin light chain (By similarity).|Proximal segment.|Heavy chain arm. anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network protein binding|signal transducer activity|structural molecule activity ovary(4)|central_nervous_system(1) 5 Colorectal(54;0.0993) TTGAGTGCCTCATTCACACTC 0.597 NA T ? ALCL 9 152 0 0 0.006214 0 0 MYO18B 84700 broad.mit.edu 37 22 26423548 26423548 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr22:26423548C>A uc003abz.1 + 43 7858 c.7608C>A c.(7606-7608)GAC>GAA p.D2536E MYO18B_uc003aca.1_Missense_Mutation_p.D2417E|MYO18B_uc010guy.1_Missense_Mutation_p.D2418E|MYO18B_uc010guz.1_Missense_Mutation_p.D2416E|MYO18B_uc011aka.1_Missense_Mutation_p.D1690E|MYO18B_uc011akb.1_Missense_Mutation_p.D2049E|MYO18B_uc010gva.1_Missense_Mutation_p.D519E|MYO18B_uc010gvb.1_RNA NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN myosin XVIIIB 2536 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2) 12 TTGCGGGTGACGGTGGCGAGC 0.567 NA 8 16 2.17888e-05 2.81911e-05 0.006214 1 0 SF3A1 10291 broad.mit.edu 37 22 30736319 30736319 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr22:30736319G>T uc003ahl.2 - 9 1373 c.1241C>A c.(1240-1242)CCC>CAC p.P414H NM_005877 NP_005868 Q15459 SF3A1_HUMAN splicing factor 3a, subunit 1, 120kDa isoform 1 414 nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex protein binding|RNA binding ovary(3)|large_intestine(1)|pancreas(1) 5 CCCAGTAATGGGGGACACAAG 0.562 NA 31 37 1.99505e-19 3.8005e-19 0.002445 1 0 CSNK1E 1454 broad.mit.edu 37 22 38696770 38696770 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr22:38696770C>A uc003avj.2 - 5 785 c.524G>T c.(523-525)GGC>GTC p.G175V CSNK1E_uc003avk.2_Missense_Mutation_p.G175V|CSNK1E_uc003avl.1_RNA|CSNK1E_uc003avm.1_Missense_Mutation_p.G175V|CSNK1E_uc003avo.2_Missense_Mutation_p.G175V|CSNK1E_uc003avp.1_Missense_Mutation_p.G175V|CSNK1E_uc003avq.1_Missense_Mutation_p.G175V NM_152221 NP_689407 P49674 KC1E_HUMAN casein kinase 1 epsilon 175 Protein kinase. DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction cytosol|nucleus ATP binding|protein binding|protein serine/threonine kinase activity ovary(1)|lung(1)|central_nervous_system(1) 3 Melanoma(58;0.045) GCGGGCCGTGCCGGTCAGGTT 0.647 Esophageal Squamous(119;108 755 9651 12170 13692 17603 24932 28315 37982 41601) NA 12 35 4.36969e-10 6.96144e-10 0.001855 1 0 RPL3 6122 broad.mit.edu 37 22 39709261 39709261 + Missense_Mutation SNP T T C rs150061768 TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr22:39709261T>C uc003axi.2 - 9 1170 c.1102A>G c.(1102-1104)ATT>GTT p.I368V RPL3_uc003axh.2_Missense_Mutation_p.I319V|RPL3_uc003axj.2_Missense_Mutation_p.I216V|RPL3_uc010gxx.2_Intron|RPL3_uc003axg.2_Missense_Mutation_p.I316V|RPL3_uc003axk.1_Missense_Mutation_p.I216V NM_000967 NP_000958 P39023 RL3_HUMAN ribosomal protein L3 isoform a 368 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus protein binding|RNA binding|structural constituent of ribosome breast(1)|kidney(1) 2 Melanoma(58;0.04) GTGGTGTCAATGAACTTAAGG 0.572 NA 3 11 0 0 0.004672 0 0 TAB1 10454 broad.mit.edu 37 22 39817853 39817853 + Silent SNP C C T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr22:39817853C>T uc003axt.2 + 8 847 c.798C>T c.(796-798)ATC>ATT p.I266I TAB1_uc003axr.2_Silent_p.I342I|TAB1_uc011aok.1_Silent_p.I100I|TAB1_uc003axu.1_Silent_p.I266I NM_006116 NP_006107 Q15750 TAB1_HUMAN mitogen-activated protein kinase kinase kinase 7 266 PP2C-like. activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor 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 cytosol|endosome membrane catalytic activity|protein binding breast(1) 1 CCAAACCAATCATCGCAGAGC 0.587 NA 13 62 0 0 0.00245 0 0 ENTHD1 150350 broad.mit.edu 37 22 40139765 40139765 + Missense_Mutation SNP C C T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr22:40139765C>T uc003ayg.2 - 7 1994 c.1743G>A c.(1741-1743)ATG>ATA p.M581I NM_152512 NP_689725 Q8IYW4 ENTD1_HUMAN ENTH domain containing 1 581 ovary(2)|skin(1) 3 Melanoma(58;0.0749) GACTCATGCTCATCAAGATGT 0.403 NA 8 47 0 0 0.00308 0 0 EP300 2033 broad.mit.edu 37 22 41489047 41489047 + Silent SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr22:41489047C>G uc003azl.3 + 1 434 c.39C>G c.(37-39)GCC>GCG p.A13A NM_001429 NP_001420 Q09472 EP300_HUMAN E1A binding protein p300 13 Interaction with ALX1.|Nuclear localization signal (Potential). apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1) 64 CGCCTTCAGCCAAGCGGCCTA 0.547 NA T| N|F|Mis|O MLL|RUNXBP2 colorectal|breast|pancreatic|AML|ALL|DLBCL Rubinstein-Taybsyndrome 6 101 0 0 0.001984 0 0 MPPED1 758 broad.mit.edu 37 22 43821208 43821208 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr22:43821208G>T uc011apv.1 + 2 440 c.217G>T c.(217-219)GTG>TTG p.V73L MPPED1_uc011apw.1_Intron|MPPED1_uc011apx.1_Intron|MPPED1_uc011apy.1_Missense_Mutation_p.V73L|MPPED1_uc011apz.1_Missense_Mutation_p.V106L NM_001044370 NP_001037835 O15442 MPPD1_HUMAN metallophosphoesterase domain containing 1 73 hydrolase activity 0 all_neural(38;0.0244)|Ovarian(80;0.0694) GCCACCGCATGTGCAGATGTA 0.657 NA 9 15 0.00448238 0.00518058 0.004482 1 0 C22orf9 23313 broad.mit.edu 37 22 45595905 45595905 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr22:45595905G>T uc003bfx.1 - 8 930 c.864C>A c.(862-864)TTC>TTA p.F288L C22orf9_uc010gzw.1_Missense_Mutation_p.F140L|C22orf9_uc003bfv.1_Missense_Mutation_p.F297L|C22orf9_uc003bfw.1_Missense_Mutation_p.F293L|C22orf9_uc010gzx.2_Missense_Mutation_p.F270L NM_001009880 NP_001009880 Q6ICG6 K0930_HUMAN hypothetical protein LOC23313 isoform b 288 protein binding 0 Ovarian(80;0.00965)|all_neural(38;0.0244) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|READ - Rectum adenocarcinoma(1;0.000617)|Colorectal(1;0.0024) GGGGTGTGCTGAAGGAGGTCA 0.612 NA 7 25 0.000442599 0.000529778 0.006214 1 0 FBLN1 2192 broad.mit.edu 37 22 45923784 45923784 + Missense_Mutation SNP G G C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr22:45923784G>C uc003bgj.1 + 4 526 c.379G>C c.(379-381)GAG>CAG p.E127Q FBLN1_uc003bgg.1_Missense_Mutation_p.E127Q|FBLN1_uc003bgh.2_Missense_Mutation_p.E127Q|FBLN1_uc010gzz.2_Missense_Mutation_p.E165Q|FBLN1_uc003bgi.1_Missense_Mutation_p.E127Q NM_006486 NP_006477 P23142 FBLN1_HUMAN fibulin 1 isoform D 127 Anaphylatoxin-like 3. interspecies interaction between organisms extracellular space|soluble fraction calcium ion binding|extracellular matrix structural constituent|protein binding ovary(1)|central_nervous_system(1) 2 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) CCAGAGCTGCGAGTACAGCCT 0.622 NA 16 48 0 0 0.004007 0 0 ZBED4 9889 broad.mit.edu 37 22 50280622 50280622 + Nonsense_Mutation SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr22:50280622G>A uc003bix.2 + 2 3782 c.3312G>A c.(3310-3312)TGG>TGA p.W1104* NM_014838 NP_055653 O75132 ZBED4_HUMAN zinc finger, BED-type containing 4 1104 cytoplasm|nucleus DNA binding|metal ion binding|protein dimerization activity ovary(2) 2 all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247) TCACCTACTGGAACCTGAAGA 0.567 NA 7 16 0 0 0.001984 0 0 GRM7 2917 broad.mit.edu 37 3 7340513 7340513 + Splice_Site SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr3:7340513G>T uc003bqm.2 + 3 1152 c.878_splice c.e3+1 p.K293_splice GRM7_uc011ata.1_Splice_Site|GRM7_uc011atb.1_Splice_Site|GRM7_uc010hcf.2_Splice_Site|GRM7_uc011atc.1_Splice_Site|GRM7_uc010hcg.2_Splice_Site_p.K293_splice|GRM7_uc003bql.2_Splice_Site_p.K293_splice|GRM7_uc003bqn.1_Splice_Site NM_000844 NP_000835 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 isoform a negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding ovary(4)|lung(3) 7 L-Glutamic Acid(DB00142) AGGATATAAAGTAAGAATAAC 0.413 NA 10 29 3.07112e-06 4.16617e-06 0.000978 1 0 SRGAP3 9901 broad.mit.edu 37 3 9055201 9055201 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr3:9055201G>T uc003brf.1 - 17 2614 c.1938C>A c.(1936-1938)GAC>GAA p.D646E SRGAP3_uc003brg.1_Missense_Mutation_p.D622E NM_014850 NP_055665 O43295 SRGP2_HUMAN SLIT-ROBO Rho GTPase activating protein 3 646 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding SRGAP3/RAF1(4) central_nervous_system(4)|skin(3)|urinary_tract(1)|breast(1) 9 OV - Ovarian serous cystadenocarcinoma(96;0.0563) TCATGTTCTCGTCGCTATACT 0.542 NA T RAF1 pilocytic astrocytoma 11 32 0.000978159 0.00115742 0.000978 1 0 SRGAP3 9901 broad.mit.edu 37 3 9074378 9074378 + Missense_Mutation SNP A A T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr3:9074378A>T uc003brf.1 - 12 2171 c.1495T>A c.(1495-1497)TAT>AAT p.Y499N SRGAP3_uc003brg.1_Intron|SRGAP3_uc003bri.1_RNA NM_014850 NP_055665 O43295 SRGP2_HUMAN SLIT-ROBO Rho GTPase activating protein 3 499 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding SRGAP3/RAF1(4) central_nervous_system(4)|skin(3)|urinary_tract(1)|breast(1) 9 OV - Ovarian serous cystadenocarcinoma(96;0.0563) TTATGGCTATACACTGAGAGA 0.493 NA T RAF1 pilocytic astrocytoma 16 60 0 0 0.00499 0 0 SETD5 55209 broad.mit.edu 37 3 9515147 9515147 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr3:9515147G>T uc003brt.2 + 20 3858 c.3423G>T c.(3421-3423)GAG>GAT p.E1141D SETD5_uc003bru.2_Missense_Mutation_p.E1043D|SETD5_uc003brv.2_Missense_Mutation_p.E1030D|SETD5_uc010hck.2_Missense_Mutation_p.E623D|SETD5_uc003brx.2_Missense_Mutation_p.E810D NM_001080517 NP_001073986 Q9C0A6 SETD5_HUMAN SET domain containing 5 1141 Ser-rich. ovary(2) 2 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.112) CCCATTTGGAGGCGGTAAGCC 0.478 NA 5 12 3.59834e-05 4.57629e-05 0.001168 1 0 C3orf24 115795 broad.mit.edu 37 3 10146187 10146187 + Missense_Mutation SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr3:10146187G>A uc003buz.2 - 2 497 c.272C>T c.(271-273)CCC>CTC p.P91L C3orf24_uc003bva.1_Missense_Mutation_p.P91L NM_173472 NP_775743 Q96PS1 CC024_HUMAN hypothetical protein LOC115795 91 0 OV - Ovarian serous cystadenocarcinoma(96;0.196) GATGGGCTGGGGCTTCCTGAC 0.532 NA 19 53 0 0 0.001216 0 0 SLC6A1 6529 broad.mit.edu 37 3 11072886 11072886 + Silent SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr3:11072886C>G uc010hdq.2 + 13 1758 c.1347C>G c.(1345-1347)CTC>CTG p.L449L NM_003042 NP_003033 P30531 SC6A1_HUMAN solute carrier family 6 (neurotransmitter 449 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity ovary(1)|skin(1) 2 Ovarian(110;0.0392) OV - Ovarian serous cystadenocarcinoma(96;0.00099) Cocaine(DB00907)|Tiagabine(DB00906) TCTTCAAACTCTTTGACTACT 0.498 NA 6 159 0 0 0.001984 0 0 CAND2 23066 broad.mit.edu 37 3 12845083 12845083 + Silent SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr3:12845083G>T uc003bxk.2 + 2 214 c.165G>T c.(163-165)CGG>CGT p.R55R CAND2_uc003bxj.2_Silent_p.R55R NM_001162499 NP_001155971 O75155 CAND2_HUMAN TBP-interacting protein isoform 1 55 HEAT 2. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding skin(3)|pancreas(1) 4 TGCTGCTCCGGCTCCTGGAGG 0.617 GBM(43;676 868 1633 6395 37496) NA 12 14 0.00010058 0.000124382 0.001368 1 0 KCNH8 131096 broad.mit.edu 37 3 19295220 19295220 + Nonsense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr3:19295220G>T uc003cbk.1 + 2 346 c.151G>T c.(151-153)GAG>TAG p.E51* KCNH8_uc011awe.1_Nonsense_Mutation_p.E51*|KCNH8_uc010hex.1_5'UTR NM_144633 NP_653234 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H, 51 Cytoplasmic (Potential).|PAS. integral to membrane two-component sensor activity lung(4)|ovary(1) 5 TGGCTTCTGCGAGCTTGCTGG 0.448 NSCLC(124;1625 1765 8018 24930 42026) NA 46 103 6.08268e-21 1.1754e-20 0.00361 1 0 SUSD5 26032 broad.mit.edu 37 3 33195367 33195367 + Missense_Mutation SNP T T A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr3:33195367T>A uc003cfo.1 - 5 1175 c.757A>T c.(757-759)ATT>TTT p.I253F NM_015551 NP_056366 O60279 SUSD5_HUMAN sushi domain containing 5 precursor 253 Extracellular (Potential). cell adhesion integral to membrane hyaluronic acid binding ovary(1)|central_nervous_system(1) 2 CCCACAGAAATGGAGACCAGA 0.562 NA 11 33 0 0 0.000978 0 0 GOLGA4 2803 broad.mit.edu 37 3 37360566 37360566 + Missense_Mutation SNP G G C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr3:37360566G>C uc003cgv.2 + 12 1730 c.1426G>C c.(1426-1428)GAA>CAA p.E476Q GOLGA4_uc010hgr.1_Intron|GOLGA4_uc003cgw.2_Missense_Mutation_p.E498Q|GOLGA4_uc010hgs.2_Intron|GOLGA4_uc003cgx.2_Missense_Mutation_p.E357Q NM_002078 NP_002069 Q13439 GOGA4_HUMAN golgi autoantigen, golgin subfamily a, 4 476 Potential.|Glu-rich. Golgi to plasma membrane protein transport Golgi membrane|trans-Golgi network protein binding ovary(2)|breast(1)|central_nervous_system(1) 4 ATCCTCAGAAGAACAAATTGC 0.363 NA 4 95 0 0 0.000248 0 0 SCN10A 6336 broad.mit.edu 37 3 38797302 38797302 + Missense_Mutation SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr3:38797302C>G uc003ciq.2 - 10 1438 c.1438G>C c.(1438-1440)GAT>CAT p.D480H NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha 480 sensory perception voltage-gated sodium channel complex ovary(5)|skin(3)|large_intestine(1)|kidney(1) 10 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) TTGTAAGGATCAGAGCGGGGT 0.264 NA 6 154 0 0 0.004482 0 0 MYRIP 25924 broad.mit.edu 37 3 40211460 40211460 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr3:40211460G>T uc003cka.2 + 8 884 c.749G>T c.(748-750)AGC>ATC p.S250I MYRIP_uc010hhu.2_RNA|MYRIP_uc010hhv.2_Missense_Mutation_p.S250I|MYRIP_uc010hhw.2_Missense_Mutation_p.S161I|MYRIP_uc011ayz.1_Missense_Mutation_p.S63I NM_015460 NP_056275 Q8NFW9 MYRIP_HUMAN myosin VIIA and Rab interacting protein 250 Myosin-binding. intracellular protein transport actin binding|zinc ion binding ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206) AAACAGAAGAGCAAAAGTGAG 0.532 NA 15 19 2.31682e-05 2.98321e-05 0.003163 1 0 ZNF502 91392 broad.mit.edu 37 3 44763714 44763714 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr3:44763714G>T uc011baa.1 + 4 1660 c.1405G>T c.(1405-1407)GGG>TGG p.G469W ZNF502_uc003cns.2_Missense_Mutation_p.G469W|ZNF502_uc011bab.1_Missense_Mutation_p.G469W|ZNF502_uc003cnt.2_Missense_Mutation_p.G469W NM_001134440 NP_001127912 Q8TBZ5 ZN502_HUMAN zinc finger protein 502 469 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589) TAAAGAATGTGGGAAAGCCTT 0.403 NA 15 20 1.49906e-05 1.9584e-05 0.00245 1 0 LIMD1 8994 broad.mit.edu 37 3 45714995 45714995 + Nonsense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr3:45714995G>T uc003coq.2 + 6 1871 c.1822G>T c.(1822-1824)GAG>TAG p.E608* NM_014240 NP_055055 Q9UGP4 LIMD1_HUMAN LIM domains containing 1 608 LIM zinc-binding 3.|Necessary for nuclear localization. cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex protein binding|zinc ion binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315) CCTTCCACCTGAGGTAAGATG 0.512 NA 23 69 0.00278032 0.00324411 0.00278 1 0 NISCH 11188 broad.mit.edu 37 3 52524743 52524743 + Silent SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr3:52524743C>A uc011beg.1 + 20 3708 c.3636C>A c.(3634-3636)ACC>ACA p.T1212T NISCH_uc003ded.3_Silent_p.T1212T|NISCH_uc003dee.3_Silent_p.T701T|NISCH_uc003deg.1_RNA|NISCH_uc003deh.3_5'Flank NM_007184 NP_009115 Q9Y2I1 NISCH_HUMAN nischarin 1212 apoptosis|cell communication cytosol|early endosome|plasma membrane|recycling endosome phosphatidylinositol binding|receptor activity ovary(3)|central_nervous_system(1) 4 BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577) AGAAAAACACCGACTACAACA 0.532 NA 23 76 1.55469e-16 2.86413e-16 0.00333 1 0 PBRM1 55193 broad.mit.edu 37 3 52649423 52649423 + Missense_Mutation SNP T T C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr3:52649423T>C uc003des.2 - 15 1880 c.1868A>G c.(1867-1869)AAA>AGA p.K623R PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Missense_Mutation_p.K623R|PBRM1_uc003der.2_Missense_Mutation_p.K591R|PBRM1_uc003det.2_Missense_Mutation_p.K638R|PBRM1_uc003deu.2_Missense_Mutation_p.K638R|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Missense_Mutation_p.K623R|PBRM1_uc010hmk.1_Missense_Mutation_p.K623R|PBRM1_uc003dey.2_Missense_Mutation_p.K623R|PBRM1_uc003dez.1_Missense_Mutation_p.K623R|PBRM1_uc003dfb.1_Missense_Mutation_p.K536R|PBRM1_uc003dfc.2_5'UTR NM_181042 NP_060635 Q86U86 PB1_HUMAN polybromo 1 isoform 4 623 chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding kidney(136)|breast(4) 140 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) GCCCAGCTCTTTCCTTTTCTC 0.373 NA Mis|N|F|S|D|O clear cell renal carcinoma|breast 16 46 0 0 0.006122 0 0 PTPRG 5793 broad.mit.edu 37 3 62118337 62118337 + Missense_Mutation SNP A A G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr3:62118337A>G uc003dlb.2 + 6 1396 c.677A>G c.(676-678)CAT>CGT p.H226R PTPRG_uc003dlc.2_Missense_Mutation_p.H226R NM_002841 NP_002832 P23470 PTPRG_HUMAN protein tyrosine phosphatase, receptor type, G 226 Extracellular (Potential).|Alpha-carbonic anhydrase. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane identical protein binding|transmembrane receptor protein tyrosine phosphatase activity ovary(5)|lung(2) 7 BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065) GGTGTCGTACATCATGGTAAG 0.438 NA 35 53 0 0 0.006999 0 0 MAGI1 9223 broad.mit.edu 37 3 65456114 65456115 + Missense_Mutation DNP AA AA TG TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 AA AA - - AA AA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr3:65456114_65456115AA>TG uc003dmn.2 - 5 1328_1329 c.802_803TT>CA c.(802-804)TTA>CAA p.L268Q MAGI1_uc003dmm.2_Missense_Mutation_p.L268Q|MAGI1_uc003dmo.2_Missense_Mutation_p.L268Q|MAGI1_uc003dmp.2_Missense_Mutation_p.L268Q|MAGI1_uc010hny.2_Missense_Mutation_p.L153Q|MAGI1_uc003dmr.2_Missense_Mutation_p.L269Q NM_001033057 NP_001028229 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ 268 Guanylate kinase-like. cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1) 6 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) CACAGGTGGTAATGCTGTTTCT 0.446 NA 20 51 0 0 0.004672 0 0 PROS1 5627 broad.mit.edu 37 3 93603635 93603635 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr3:93603635C>A uc003drb.3 - 12 1770 c.1429G>T c.(1429-1431)GTT>TTT p.V477F PROS1_uc010hoo.2_Missense_Mutation_p.V346F|PROS1_uc003dqz.3_Missense_Mutation_p.V346F NM_000313 NP_000304 P07225 PROS_HUMAN protein S, alpha preproprotein 477 leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen calcium ion binding|endopeptidase inhibitor activity large_intestine(1) 1 Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170) TCCACAGTAACCAGGCAATGC 0.363 NA 16 41 1.5739e-10 2.54668e-10 0.004007 1 0 EPHA6 285220 broad.mit.edu 37 3 97454805 97454805 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr3:97454805G>T uc010how.1 + 16 3014 c.2971G>T c.(2971-2973)GCT>TCT p.A991S EPHA6_uc003drt.2_Missense_Mutation_p.A383S|EPHA6_uc010hox.1_RNA NM_001080448 NP_001073917 Q9UF33 EPHA6_HUMAN EPH receptor A6 isoform a 896 Protein kinase.|Cytoplasmic (Potential). integral to plasma membrane ATP binding|ephrin receptor activity stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1) 16 CAGACTTCCAGCTCCCATGGG 0.418 NA 8 37 3.86212e-05 4.87942e-05 0.008291 1 0 OR5K3 403277 broad.mit.edu 37 3 98109831 98109831 + Missense_Mutation SNP G G C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr3:98109831G>C uc011bgw.1 + 1 322 c.322G>C c.(322-324)GAA>CAA p.E108Q NM_001005516 NP_001005516 A6NET4 OR5K3_HUMAN olfactory receptor, family 5, subfamily K, 108 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CTGTCTTGCTGAAACTACAGA 0.438 NA 44 154 0 0 0.002852 0 0 GPR128 84873 broad.mit.edu 37 3 100356151 100356151 + Silent SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr3:100356151G>A uc003duc.2 + 6 871 c.603G>A c.(601-603)AAG>AAA p.K201K GPR128_uc011bhc.1_5'UTR NM_032787 NP_116176 Q96K78 GP128_HUMAN G protein-coupled receptor 128 precursor 201 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3)|skin(1) 4 GGCAGGCAAAGAAAGTTGCCA 0.348 Pancreas(87;185 1975 7223 18722) NA 3 37 0 0 0.000602 0 0 GPR128 84873 broad.mit.edu 37 3 100374023 100374023 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr3:100374023G>T uc003duc.2 + 12 1992 c.1724G>T c.(1723-1725)TGG>TTG p.W575L GPR128_uc011bhc.1_Missense_Mutation_p.W276L|GPR128_uc003dud.2_Missense_Mutation_p.W98L NM_032787 NP_116176 Q96K78 GP128_HUMAN G protein-coupled receptor 128 precursor 575 Helical; Name=4; (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3)|skin(1) 4 TTAATTGGATGGGGTAAGTGT 0.318 Pancreas(87;185 1975 7223 18722) NA 15 61 3.35478e-16 6.13823e-16 0.003163 1 0 TRAT1 50852 broad.mit.edu 37 3 108568088 108568088 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr3:108568088C>A uc003dxi.1 + 5 434 c.290C>A c.(289-291)ACC>AAC p.T97N TRAT1_uc010hpx.1_Missense_Mutation_p.T60N NM_016388 NP_057472 Q6PIZ9 TRAT1_HUMAN T-cell receptor interacting molecule 97 Cytoplasmic (Potential). cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway integral to plasma membrane|T cell receptor complex phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity skin(1) 1 CAGGAAGCCACCCCATCTGCA 0.373 NA 14 48 0.000308642 0.000372422 0.003163 1 0 MORC1 27136 broad.mit.edu 37 3 108723721 108723721 + Silent SNP A A T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr3:108723721A>T uc003dxl.2 - 20 2115 c.2028T>A c.(2026-2028)GCT>GCA p.A676A MORC1_uc011bhn.1_Silent_p.A655A NM_014429 NP_055244 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 676 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding ovary(3)|skin(3)|breast(2) 8 TGGTAATATTAGCAATCTGAC 0.353 NA 51 149 0 0 0.00361 0 0 CCDC80 151887 broad.mit.edu 37 3 112358068 112358068 + Nonsense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr3:112358068C>A uc003dzf.2 - 2 903 c.685G>T c.(685-687)GAG>TAG p.E229* CCDC80_uc011bhv.1_Nonsense_Mutation_p.E229*|CCDC80_uc003dzg.2_Nonsense_Mutation_p.E229*|CCDC80_uc003dzh.1_Nonsense_Mutation_p.E229* NM_199512 NP_955806 Q76M96 CCD80_HUMAN steroid-sensitive protein 1 precursor 229 ovary(2) 2 TTGCCCTTCTCCAGCTTCAGG 0.577 NA 38 107 3.93418e-24 7.69084e-24 0.004289 1 0 HCLS1 3059 broad.mit.edu 37 3 121376180 121376180 + Missense_Mutation SNP T T C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr3:121376180T>C uc003eeh.3 - 3 229 c.104A>G c.(103-105)GAG>GGG p.E35G HCLS1_uc011bjj.1_Missense_Mutation_p.E35G|HCLS1_uc011bjk.1_RNA|HCLS1_uc011bjl.1_Missense_Mutation_p.E35G NM_005335 NP_005326 P14317 HCLS1_HUMAN hematopoietic cell-specific Lyn substrate 1 35 Involved in HAX-1 binding. erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus mitochondrion|nucleus|plasma membrane DNA binding|sequence-specific DNA binding transcription factor activity 0 GBM - Glioblastoma multiforme(114;0.0912) CCATCGTTGCTCCTTTTCAGA 0.517 NA 36 135 0 0 0.004878 0 0 GOLGB1 2804 broad.mit.edu 37 3 121433816 121433816 + Silent SNP G G C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr3:121433816G>C uc003eei.3 - 10 1407 c.1281C>G c.(1279-1281)CTC>CTG p.L427L GOLGB1_uc010hrc.2_Silent_p.L432L|GOLGB1_uc003eej.3_Silent_p.L393L|GOLGB1_uc011bjm.1_Silent_p.L313L|GOLGB1_uc010hrd.1_Silent_p.L391L NM_004487 NP_004478 Q14789 GOGB1_HUMAN golgi autoantigen, golgin subfamily b, 427 Potential.|Cytoplasmic (Potential). Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding ovary(6)|breast(2)|skin(2) 10 GBM - Glioblastoma multiforme(114;0.0989) ATTTTTGCTGGAGCTGATCTA 0.318 NA 12 72 0 0 0.000978 0 0 DIRC2 84925 broad.mit.edu 37 3 122591347 122591347 + Silent SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr3:122591347C>G uc003efw.3 + 8 1363 c.1224C>G c.(1222-1224)GTC>GTG p.V408V DIRC2_uc010hrl.2_RNA|DIRC2_uc010hrm.2_Silent_p.V246V NM_032839 NP_116228 Q96SL1 DIRC2_HUMAN disrupted in renal carcinoma 2 408 transport integral to membrane 0 GBM - Glioblastoma multiforme(114;0.0614) TGGAAACTGTCTACCCAGTTC 0.348 NA 33 136 0 0 0.002445 0 0 PDIA5 10954 broad.mit.edu 37 3 122873846 122873846 + Silent SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr3:122873846G>T uc003egc.1 + 15 1358 c.1302G>T c.(1300-1302)CCG>CCT p.P434P PDIA5_uc003egd.1_RNA NM_006810 NP_006801 Q14554 PDIA5_HUMAN protein disulfide isomerase A5 precursor 434 Thioredoxin 3. cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress endoplasmic reticulum lumen electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity ovary(1) 1 GBM - Glioblastoma multiforme(114;0.0427) AGGTCATTCCGCACTTTACTG 0.532 NA 31 83 1.74807e-11 2.90552e-11 0.002096 1 0 COL29A1 256076 broad.mit.edu 37 3 130095164 130095164 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr3:130095164C>A uc010htj.1 + 3 646 c.152C>A c.(151-153)ACG>AAG p.T51K COL29A1_uc010hti.1_RNA NM_153264 NP_694996 A8TX70 CO6A5_HUMAN collagen, type XXIX, alpha 1 51 Nonhelical region.|VWFA 1. axon guidance|cell adhesion collagen 0 TTCGTGAAAACGTTCATCAAC 0.478 NA 21 67 1.00905e-13 1.76682e-13 0.001216 1 0 C3orf36 80111 broad.mit.edu 37 3 133647523 133647523 + Missense_Mutation SNP C C T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr3:133647523C>T uc003epz.1 - 1 1134 c.125G>A c.(124-126)GGA>GAA p.G42E NM_025041 NP_079317 Q3SXR2 CC036_HUMAN hypothetical protein LOC80111 42 ovary(1) 1 GGCCATTCCTCCAGGCCCTGA 0.622 NA 15 38 0 0 0.003163 0 0 EPHB1 2047 broad.mit.edu 37 3 134851709 134851709 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr3:134851709G>T uc003eqt.2 + 5 1335 c.1115G>T c.(1114-1116)CGC>CTC p.R372L EPHB1_uc010htz.1_RNA|EPHB1_uc011bly.1_3'UTR|EPHB1_uc003equ.2_5'UTR NM_004441 NP_004432 P54762 EPHB1_HUMAN ephrin receptor EphB1 precursor 372 Extracellular (Potential).|Fibronectin type-III 1. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1) 30 AGCTGCTCCCGCTGTGACGAC 0.617 NA 7 22 0.00448238 0.00518058 0.004482 1 0 EPHB1 2047 broad.mit.edu 37 3 134885845 134885845 + Silent SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr3:134885845C>A uc003eqt.2 + 9 1976 c.1756C>A c.(1756-1758)CGA>AGA p.R586R EPHB1_uc003equ.2_Silent_p.R147R NM_004441 NP_004432 P54762 EPHB1_HUMAN ephrin receptor EphB1 precursor 586 Cytoplasmic (Potential). integral to plasma membrane ATP binding|ephrin receptor activity|protein binding lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1) 30 CAGCACAGGCCGAGGTAAGTA 0.547 NA 22 179 4.16121e-05 5.25236e-05 0.00278 1 0 SLC25A36 55186 broad.mit.edu 37 3 140689777 140689777 + Missense_Mutation SNP G G C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr3:140689777G>C uc003etr.2 + 5 629 c.394G>C c.(394-396)GCA>CCA p.A132P SLC25A36_uc003ets.2_Missense_Mutation_p.A132P|SLC25A36_uc003etq.2_5'UTR|SLC25A36_uc011bmz.1_Missense_Mutation_p.A106P NM_001104647 NP_001098117 Q96CQ1 S2536_HUMAN solute carrier family 25, member 36 isoform a 132 Solcar 2. response to estradiol stimulus|transmembrane transport integral to membrane|mitochondrial inner membrane binding 0 AGGTTTTACTGCAATCACAGC 0.294 NA 11 37 0 0 0.001368 0 0 ACPL2 92370 broad.mit.edu 37 3 140997196 140997196 + Missense_Mutation SNP C C T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr3:140997196C>T uc003etu.2 + 5 391 c.92C>T c.(91-93)CCG>CTG p.P31L ACPL2_uc003etv.2_Missense_Mutation_p.P31L|ACPL2_uc011bna.1_5'UTR|ACPL2_uc011bnb.1_Missense_Mutation_p.P14L NM_152282 NP_689495 Q8TE99 ACPL2_HUMAN acid phosphatase-like 2 precursor 31 extracellular region acid phosphatase activity skin(1) 1 CACCTGATCCCGGTGTCGACT 0.567 NA 10 36 0 0 0.006214 0 0 ZBTB38 253461 broad.mit.edu 37 3 141164114 141164114 + Missense_Mutation SNP G G T rs75545796 by1000genomes TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr3:141164114G>T uc003etw.2 + 8 3866 c.2884G>T c.(2884-2886)GTG>TTG p.V962L ZBTB38_uc010hun.2_Missense_Mutation_p.V959L|ZBTB38_uc010huo.2_Missense_Mutation_p.V962L|ZBTB38_uc003ety.2_Missense_Mutation_p.V962L|ZBTB38_uc010hup.2_Missense_Mutation_p.V963L NM_001080412 NP_001073881 Q8NAP3 ZBT38_HUMAN zinc finger and BTB domain containing 38 962 positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 GGATTGCGCCGTGGGGAAGGC 0.498 NA 8 27 3.09899e-07 4.40883e-07 0.004482 1 0 XRN1 54464 broad.mit.edu 37 3 142139947 142139947 + Missense_Mutation SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr3:142139947C>G uc003eus.2 - 10 1151 c.1084G>C c.(1084-1086)GAA>CAA p.E362Q XRN1_uc003eut.2_Missense_Mutation_p.E362Q|XRN1_uc003euu.2_Missense_Mutation_p.E362Q|XRN1_uc003euv.1_Missense_Mutation_p.E223Q|XRN1_uc003euw.2_Missense_Mutation_p.E362Q|XRN1_uc011bnh.1_Missense_Mutation_p.E152Q NM_019001 NP_061874 Q8IZH2 XRN1_HUMAN 5'-3' exoribonuclease 1 isoform a 362 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 ACTTTGCTTTCAAACCATTTT 0.338 NA 5 131 0 0 0.001168 0 0 CHST2 9435 broad.mit.edu 37 3 142841199 142841199 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr3:142841199C>A uc003evm.2 + 2 2430 c.1541C>A c.(1540-1542)CCT>CAT p.P514H NM_004267 NP_004258 Q9Y4C5 CHST2_HUMAN carbohydrate (N-acetylglucosamine-6-O) 514 Lumenal (Potential). inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process integral to membrane|intrinsic to Golgi membrane|trans-Golgi network N-acetylglucosamine 6-O-sulfotransferase activity ovary(3) 3 GTCAACAGCCCTGAGGAGGTC 0.572 NA 10 32 0.000442599 0.000529778 0.006214 1 0 SLC9A9 285195 broad.mit.edu 37 3 142985603 142985603 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr3:142985603C>A uc003evn.2 - 16 2061 c.1879G>T c.(1879-1881)GGC>TGC p.G627C NM_173653 NP_775924 Q8IVB4 SL9A9_HUMAN solute carrier family 9 (sodium/hydrogen 627 regulation of pH integral to membrane|late endosome membrane|recycling endosome sodium:hydrogen antiporter activity ovary(2)|skin(1) 3 CCTCCCAGGCCGAGGTCTCCC 0.498 NA 23 82 9.95505e-16 1.79458e-15 0.002299 1 0 FAM194A 131831 broad.mit.edu 37 3 150384672 150384672 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr3:150384672G>T uc003eyg.2 - 13 1687 c.1630C>A c.(1630-1632)CGT>AGT p.R544S FAM194A_uc003eyh.2_Missense_Mutation_p.R398S NM_152394 NP_689607 Q7L0X2 F194A_HUMAN hypothetical protein LOC131831 544 skin(2)|ovary(1) 3 CCAATATAACGGTTCAAAGCC 0.413 NA 23 64 5.35356e-11 8.74675e-11 0.00278 1 0 P2RY14 9934 broad.mit.edu 37 3 150931206 150931206 + Missense_Mutation SNP T T A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr3:150931206T>A uc003eyr.1 - 3 1377 c.899A>T c.(898-900)CAG>CTG p.Q300L MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron|P2RY14_uc003eys.1_Missense_Mutation_p.Q300L NM_001081455 NP_001074924 Q15391 P2Y14_HUMAN P2Y14 receptor 300 Cytoplasmic (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled|UDP-activated nucleotide receptor activity large_intestine(2)|ovary(1)|lung(1) 4 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) CCTAAACGGCTGGCATAGAAA 0.358 NA 27 81 0 0 0.007291 0 0 SHOX2 6474 broad.mit.edu 37 3 157823666 157823666 + Missense_Mutation SNP C C T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr3:157823666C>T uc003fbr.2 - 1 287 c.148G>A c.(148-150)GAC>AAC p.D50N SHOX2_uc003fbs.2_Missense_Mutation_p.D50N|SHOX2_uc010hvw.2_Missense_Mutation_p.D50N NM_006884 NP_006875 O60902 SHOX2_HUMAN short stature homeobox 2 isoform a 50 nervous system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043) CTGCTGCGGTCGTCGCGGCCC 0.453 NA 3 7 0 0 0.004672 0 0 SI 6476 broad.mit.edu 37 3 164724727 164724727 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr3:164724727G>T uc003fei.2 - 37 4345 c.4283C>A c.(4282-4284)ACT>AAT p.T1428N NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 1428 Sucrase.|Lumenal. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TAATCCATCAGTTCTTTTTGT 0.333 NA HNSCC(35;0.089) 11 18 5.50884e-06 7.37624e-06 0.001368 1 0 SI 6476 broad.mit.edu 37 3 164737505 164737505 + Nonsense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr3:164737505G>T uc003fei.2 - 28 3370 c.3308C>A c.(3307-3309)TCG>TAG p.S1103* NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 1103 Sucrase.|Lumenal. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) CAGGCGAGTCGATATTTGAAT 0.378 NA HNSCC(35;0.089) 9 73 0.00621372 0.00712032 0.006214 1 0 SI 6476 broad.mit.edu 37 3 164786549 164786549 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr3:164786549G>T uc003fei.2 - 5 506 c.444C>A c.(442-444)TTC>TTA p.F148L NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 148 Lumenal.|Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TTTGAGTTGTGAAGAGAACAC 0.333 NA HNSCC(35;0.089) 22 78 6.44725e-10 1.02469e-09 0.002299 1 0 SLITRK3 22865 broad.mit.edu 37 3 164906813 164906813 + Silent SNP C C T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr3:164906813C>T uc003fej.3 - 2 2250 c.1806G>A c.(1804-1806)GTG>GTA p.V602V SLITRK3_uc003fek.2_Silent_p.V602V NM_014926 NP_055741 O94933 SLIK3_HUMAN slit and trk like 3 protein precursor 602 LRRCT 2.|Extracellular (Potential). integral to membrane ovary(6)|skin(3)|pancreas(1) 10 CAATAGTGCGCACATCACGGT 0.547 NA HNSCC(40;0.11) 13 34 0 0 0.001368 0 0 SLITRK3 22865 broad.mit.edu 37 3 164906974 164906974 + Missense_Mutation SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr3:164906974C>G uc003fej.3 - 2 2089 c.1645G>C c.(1645-1647)GAA>CAA p.E549Q SLITRK3_uc003fek.2_Missense_Mutation_p.E549Q NM_014926 NP_055741 O94933 SLIK3_HUMAN slit and trk like 3 protein precursor 549 Extracellular (Potential).|LRR 12. integral to membrane ovary(6)|skin(3)|pancreas(1) 10 TTCAAGTGTTCCAGGACACCA 0.532 NA HNSCC(40;0.11) 13 41 0 0 0.00245 0 0 LRRC31 79782 broad.mit.edu 37 3 169587549 169587549 + Missense_Mutation SNP G G C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr3:169587549G>C uc003fgc.1 - 1 124 c.47C>G c.(46-48)CCC>CGC p.P16R LRRC31_uc010hwp.1_Missense_Mutation_p.P16R NM_024727 NP_079003 Q6UY01 LRC31_HUMAN leucine rich repeat containing 31 16 ovary(2)|skin(1) 3 all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943) TGAAGTCTGGGGCTTAGTTTC 0.443 NA 9 69 0 0 0.006214 0 0 SLC7A14 57709 broad.mit.edu 37 3 170216537 170216537 + Silent SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr3:170216537C>A uc003fgz.2 - 4 994 c.678G>T c.(676-678)GTG>GTT p.V226V CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron NM_020949 NP_066000 Q8TBB6 S7A14_HUMAN solute carrier family 7 (cationic amino acid 226 Helical; (Potential). integral to membrane amino acid transmembrane transporter activity ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1) 5 all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137) Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12) TCATGATGAACACCCATACTG 0.507 NA 17 70 3.41278e-10 5.4499e-10 0.00499 1 0 FNDC3B 64778 broad.mit.edu 37 3 171830326 171830326 + Silent SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr3:171830326G>T uc003fhy.2 + 2 229 c.57G>T c.(55-57)CTG>CTT p.L19L FNDC3B_uc003fhz.3_Silent_p.L19L|FNDC3B_uc003fhx.2_RNA NM_022763 NP_073600 Q53EP0 FND3B_HUMAN fibronectin type III domain containing 3B 19 endoplasmic reticulum|integral to membrane ovary(2)|breast(1) 3 all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GBM - Glioblastoma multiforme(1;0.0494) CACCATTGCTGAACGGAGAGG 0.498 NA 20 73 8.10497e-08 1.18444e-07 0.001523 1 0 FNDC3B 64778 broad.mit.edu 37 3 171965348 171965348 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr3:171965348G>T uc003fhy.2 + 5 462 c.290G>T c.(289-291)CGC>CTC p.R97L FNDC3B_uc003fhz.3_Missense_Mutation_p.R97L|FNDC3B_uc003fia.2_Missense_Mutation_p.R28L NM_022763 NP_073600 Q53EP0 FND3B_HUMAN fibronectin type III domain containing 3B 97 endoplasmic reticulum|integral to membrane ovary(2)|breast(1) 3 all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GBM - Glioblastoma multiforme(1;0.0494) ACTGGAGTCCGCCGGGTGGTG 0.458 NA 32 120 5.6714e-07 7.96725e-07 0.002096 1 0 ECT2 1894 broad.mit.edu 37 3 172474909 172474909 + Missense_Mutation SNP G G C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr3:172474909G>C uc003fii.2 + 4 485 c.347G>C c.(346-348)AGA>ACA p.R116T ECT2_uc010hwv.1_Missense_Mutation_p.R147T|ECT2_uc003fih.2_Missense_Mutation_p.R115T|ECT2_uc003fij.1_Missense_Mutation_p.R116T|ECT2_uc003fik.1_Missense_Mutation_p.R116T|ECT2_uc003fil.1_Missense_Mutation_p.R147T NM_018098 NP_060568 Q9H8V3 ECT2_HUMAN epithelial cell transforming sequence 2 oncogene 116 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity|signal transducer activity breast(2)|ovary(1)|skin(1) 4 Ovarian(172;0.00197)|Breast(254;0.158) Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14) GCTGATTGTAGAGTTATTGGA 0.308 NA 6 96 0 0 0.001984 0 0 PEX5L 51555 broad.mit.edu 37 3 179605484 179605484 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr3:179605484C>A uc003fki.1 - 4 417 c.287G>T c.(286-288)AGG>ATG p.R96M PEX5L_uc011bqd.1_Missense_Mutation_p.R53M|PEX5L_uc011bqe.1_Translation_Start_Site|PEX5L_uc011bqf.1_Missense_Mutation_p.R53M|PEX5L_uc003fkj.1_Missense_Mutation_p.R61M|PEX5L_uc010hxd.1_Missense_Mutation_p.R94M|PEX5L_uc011bqg.1_Missense_Mutation_p.R72M|PEX5L_uc011bqh.1_Missense_Mutation_p.R37M NM_016559 NP_057643 Q8IYB4 PEX5R_HUMAN peroxisomal biogenesis factor 5-like 96 protein import into peroxisome matrix|regulation of cAMP-mediated signaling cytosol|peroxisomal membrane peroxisome matrix targeting signal-1 binding ovary(3)|large_intestine(1) 4 all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183) OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518) TGTTACTGGCCTTGCTATTGC 0.388 NA 36 158 5.43694e-19 1.03425e-18 0.005524 1 0 ECE2 9718 broad.mit.edu 37 3 184001646 184001646 + Missense_Mutation SNP A A T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr3:184001646A>T uc003fni.3 + 8 1282 c.1244A>T c.(1243-1245)GAG>GTG p.E415V ECE2_uc011brh.1_Missense_Mutation_p.E268V|ECE2_uc003fnl.3_Missense_Mutation_p.E343V|ECE2_uc003fnm.3_Missense_Mutation_p.E297V|ECE2_uc003fnk.3_Missense_Mutation_p.E268V|ECE2_uc011bri.1_Missense_Mutation_p.E330V|ECE2_uc010hxv.2_Missense_Mutation_p.E59V NM_014693 NP_055508 O60344 ECE2_HUMAN endothelin converting enzyme 2 isoform A 415 Lumenal (Potential).|Endothelin-converting enzyme 2 region. brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing cytoplasmic vesicle membrane|Golgi membrane|integral to membrane metal ion binding|metalloendopeptidase activity|methyltransferase activity ovary(2)|skin(2) 4 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) TCCACGAGGGAGCAGATGCAG 0.607 NA 7 44 0 0 0.001984 0 0 LIPH 200879 broad.mit.edu 37 3 185252583 185252583 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr3:185252583C>A uc003fpm.2 - 2 497 c.387G>T c.(385-387)ATG>ATT p.M129I LIPH_uc010hyh.2_Missense_Mutation_p.M129I NM_139248 NP_640341 Q8WWY8 LIPH_HUMAN lipase, member H precursor 129 lipid catabolic process extracellular space|plasma membrane heparin binding|phospholipase activity ovary(1)|pancreas(1) 2 all_cancers(143;8.87e-11)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;1.31e-21) CCTTCAAGACCATGGCTACTT 0.393 NA 20 41 2.94398e-08 4.37364e-08 0.007413 1 0 SENP2 59343 broad.mit.edu 37 3 185307917 185307917 + Silent SNP A A G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr3:185307917A>G uc003fpn.2 + 2 288 c.117A>G c.(115-117)ACA>ACG p.T39T SENP2_uc011brv.1_Silent_p.T29T|SENP2_uc011brw.1_5'UTR NM_021627 NP_067640 Q9HC62 SENP2_HUMAN SUMO1/sentrin/SMT3 specific protease 2 39 T -> TA (in Ref. 1; AAG15309). mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway cytoplasm|nuclear membrane|nuclear pore protein binding|SUMO-specific protease activity 0 all_cancers(143;1.28e-10)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;1.31e-21) TGTTTTCTACAGTGGACACTG 0.254 NA 13 26 0 0 0.00245 0 0 AHSG 197 broad.mit.edu 37 3 186335114 186335114 + Missense_Mutation SNP A A T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr3:186335114A>T uc003fqk.3 + 4 629 c.548A>T c.(547-549)GAG>GTG p.E183V AHSG_uc003fqj.2_Missense_Mutation_p.E183V|AHSG_uc003fql.3_Missense_Mutation_p.E184V|AHSG_uc003fqm.3_Missense_Mutation_p.E182V|AHSG_uc010hyp.2_Missense_Mutation_p.E146V NM_001622 NP_001613 P02765 FETUA_HUMAN alpha-2-HS-glycoprotein 183 Cystatin fetuin-A-type 2. acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development extracellular space cysteine-type endopeptidase inhibitor activity|protein binding 0 all_cancers(143;3.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.27e-20) GBM - Glioblastoma multiforme(93;0.0463) TTTCAGCTGGAGGAAATTTCC 0.587 NA OREG0015968 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 22 77 0 0 0.002299 0 0 C3orf59 151963 broad.mit.edu 37 3 192517414 192517414 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr3:192517414C>A uc011bsp.1 - 2 558 c.237G>T c.(235-237)AAG>AAT p.K79N NM_178496 NP_848591 Q8IYB1 M21D2_HUMAN hypothetical protein LOC151963 79 0 all_cancers(143;1.56e-08)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.8e-18)|LUSC - Lung squamous cell carcinoma(58;8.04e-06)|Lung(62;8.62e-06) GBM - Glioblastoma multiforme(46;3.86e-05) CCACTGGAAGCTTTTGGTCCA 0.448 NA 13 29 2.31682e-05 2.98321e-05 0.003163 1 0 ATP13A4 84239 broad.mit.edu 37 3 193201780 193201780 + Silent SNP G G C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr3:193201780G>C uc003ftd.2 - 8 861 c.753C>G c.(751-753)CTC>CTG p.L251L ATP13A4_uc003fte.1_Silent_p.L251L|ATP13A4_uc011bsr.1_5'UTR NM_032279 NP_115655 Q4VNC1 AT134_HUMAN ATPase type 13A4 251 Extracellular (Potential). ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(2) 2 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) CGAGATGGTGGAGTTTTACAG 0.343 NA 13 127 0 0 0.00245 0 0 MUC4 4585 broad.mit.edu 37 3 195517450 195517450 + Missense_Mutation SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr3:195517450C>G uc011bto.1 - 2 1461 c.1001G>C c.(1000-1002)AGA>ACA p.R334T MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Missense_Mutation_p.R216T NM_018406 NP_060876 Q99102 MUC4_HUMAN mucin 4 isoform a 339 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity 0 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) TTGAGATACTCTGGTGGTCTC 0.463 NA 4 208 0 0 0.000248 0 0 LRRC33 375387 broad.mit.edu 37 3 196386747 196386747 + Missense_Mutation SNP A A T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr3:196386747A>T uc003fwv.2 + 3 337 c.233A>T c.(232-234)CAG>CTG p.Q78L NM_198565 NP_940967 Q86YC3 LRC33_HUMAN leucine rich repeat containing 33 precursor 78 Extracellular (Potential).|LRR 1. integral to membrane ovary(2)|central_nervous_system(1) 3 all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00326) CACTCCCTCCAGCCTTACCCT 0.677 NA 10 20 0 0 0.008291 0 0 PSAPL1 768239 broad.mit.edu 37 4 7435511 7435511 + Missense_Mutation SNP A A T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr4:7435511A>T uc011bwj.1 - 1 1190 c.1096T>A c.(1096-1098)TGT>AGT p.C366S SORCS2_uc003gkb.3_Intron|SORCS2_uc011bwi.1_Intron NM_001085382 NP_001078851 Q6NUJ1 SAPL1_HUMAN prosaposin-like protein 1 366 Saposin B-type 3. sphingolipid metabolic process extracellular region|lysosome 0 CGGTTGCCACACAGACGGATG 0.607 NA 12 89 0 0 0.001368 0 0 PSAPL1 768239 broad.mit.edu 37 4 7435731 7435731 + Silent SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr4:7435731C>G uc011bwj.1 - 1 970 c.876G>C c.(874-876)GTG>GTC p.V292V SORCS2_uc003gkb.3_Intron|SORCS2_uc011bwi.1_Intron NM_001085382 NP_001078851 Q6NUJ1 SAPL1_HUMAN prosaposin-like protein 1 292 Saposin B-type 3. sphingolipid metabolic process extracellular region|lysosome 0 CCTCACAGGTCACACCGGCCT 0.597 NA 6 23 0 0 0.001168 0 0 SLC2A9 56606 broad.mit.edu 37 4 9828093 9828093 + Silent SNP C C T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr4:9828093C>T uc003gmc.2 - 12 1612 c.1551G>A c.(1549-1551)AGG>AGA p.R517R SLC2A9_uc003gmd.2_Silent_p.R488R NM_020041 NP_064425 Q9NRM0 GTR9_HUMAN solute carrier family 2, member 9 protein 517 Cytoplasmic (Potential). glucose transport|urate metabolic process integral to membrane|plasma membrane sugar:hydrogen symporter activity ovary(3) 3 ATGCTTTGTTCCTTTTGGAAA 0.423 NA 31 129 0 0 0.002445 0 0 BOD1L 259282 broad.mit.edu 37 4 13604345 13604345 + Silent SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr4:13604345C>A uc003gmz.1 - 10 4296 c.4179G>T c.(4177-4179)GTG>GTT p.V1393V BOD1L_uc010idr.1_Silent_p.V730V NM_148894 NP_683692 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1393 DNA binding ovary(5)|breast(1) 6 TTTCCACAATCACGCCCGTTA 0.398 NA 29 99 1.88708e-17 3.50533e-17 0.008361 1 0 SLIT2 9353 broad.mit.edu 37 4 20525666 20525666 + Missense_Mutation SNP A A T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr4:20525666A>T uc003gpr.1 + 14 1508 c.1304A>T c.(1303-1305)GAC>GTC p.D435V SLIT2_uc003gps.1_Missense_Mutation_p.D435V NM_004787 NP_004778 O94813 SLIT2_HUMAN slit homolog 2 precursor 435 LRRCT 2. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding central_nervous_system(4)|skin(4)|ovary(3) 11 TTTATTTGTGACTGCCATCTC 0.483 NA 31 138 0 0 0.008361 0 0 SLIT2 9353 broad.mit.edu 37 4 20541151 20541151 + Silent SNP T T C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr4:20541151T>C uc003gpr.1 + 19 2124 c.1920T>C c.(1918-1920)AAT>AAC p.N640N SLIT2_uc003gps.1_Silent_p.N632N NM_004787 NP_004778 O94813 SLIT2_HUMAN slit homolog 2 precursor 640 LRR 16. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding central_nervous_system(4)|skin(4)|ovary(3) 11 TGTATGATAATCAAATTACTA 0.378 NA 9 42 0 0 0.004482 0 0 PCDH7 5099 broad.mit.edu 37 4 30724559 30724559 + Missense_Mutation SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr4:30724559C>G uc003gsk.1 + 1 2523 c.1515C>G c.(1513-1515)ATC>ATG p.I505M PCDH7_uc011bxw.1_Missense_Mutation_p.I458M|PCDH7_uc011bxx.1_Missense_Mutation_p.I505M NM_002589 NP_002580 O60245 PCDH7_HUMAN protocadherin 7 isoform a precursor 505 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion integral to plasma membrane calcium ion binding upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1) 4 ACGTGGTCATCGTGGCGGTGG 0.602 NA 12 25 0 0 0.000978 0 0 WDR19 57728 broad.mit.edu 37 4 39255635 39255635 + Missense_Mutation SNP T T C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr4:39255635T>C uc003gtv.2 + 26 3140 c.2986T>C c.(2986-2988)TAT>CAT p.Y996H WDR19_uc011byi.1_Missense_Mutation_p.Y836H|WDR19_uc003gtw.1_Missense_Mutation_p.Y593H NM_025132 NP_079408 Q8NEZ3 WDR19_HUMAN WD repeat domain 19 996 cell projection organization microtubule basal body|motile cilium|photoreceptor connecting cilium binding large_intestine(1) 1 AATGGAAATCTATGCAGATAT 0.358 NA 5 72 0 0 0.000602 0 0 SHISA3 152573 broad.mit.edu 37 4 42403163 42403163 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr4:42403163C>A uc003gwp.2 + 2 630 c.412C>A c.(412-414)CTC>ATC p.L138I NM_001080505 NP_001073974 A0PJX4 SHSA3_HUMAN shisa homolog 3 precursor 138 Cytoplasmic (Potential). multicellular organismal development endoplasmic reticulum membrane|integral to membrane ovary(1)|skin(1) 2 CCGCTTCTCACTCCGCAGCTA 0.587 NA 28 234 5.60225e-13 9.65831e-13 0.001786 1 0 ATP8A1 10396 broad.mit.edu 37 4 42487601 42487601 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr4:42487601C>A uc003gwr.2 - 25 2468 c.2236G>T c.(2236-2238)GGG>TGG p.G746W ATP8A1_uc003gwq.2_Intron|ATP8A1_uc003gws.2_Missense_Mutation_p.G731W NM_006095 NP_006086 Q9Y2Q0 AT8A1_HUMAN ATPase, aminophospholipid transporter (APLT), 746 Cytoplasmic (Potential).|ATP (Potential). ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity skin(2)|central_nervous_system(1) 3 Phosphatidylserine(DB00144) AGGGTTTTCCCATCAATTATA 0.418 NA 11 38 6.40141e-05 8.03467e-05 0.000978 1 0 GABRG1 2565 broad.mit.edu 37 4 46053441 46053441 + Silent SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr4:46053441C>A uc003gxb.2 - 8 1283 c.1131G>T c.(1129-1131)TCG>TCT p.S377S NM_173536 NP_775807 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid A receptor, gamma 1 377 Cytoplasmic (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) TTTAACATACCGAGGCTTTAT 0.313 NA 5 12 1.024e-07 1.49157e-07 0.000602 1 0 GABRB1 2560 broad.mit.edu 37 4 47427936 47427936 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr4:47427936C>A uc003gxh.2 + 9 1700 c.1326C>A c.(1324-1326)GAC>GAA p.D442E GABRB1_uc011bze.1_Missense_Mutation_p.D372E NM_000812 NP_000803 P18505 GBRB1_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 442 Cytoplasmic (Probable). synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2) 2 Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) AGATCCCCGACTTGACTGATG 0.557 NA 16 72 2.23348e-06 3.05455e-06 0.004007 1 0 LRRC66 339977 broad.mit.edu 37 4 52860965 52860965 + Silent SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr4:52860965C>A uc003gzi.2 - 4 2236 c.2223G>T c.(2221-2223)GGG>GGT p.G741G NM_001024611 NP_001019782 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 741 integral to membrane ovary(1)|central_nervous_system(1)|skin(1) 3 CCTTGCTTGCCCCTGAGCTCT 0.488 NA 39 81 9.73076e-26 1.919e-25 0.006999 1 0 AASDH 132949 broad.mit.edu 37 4 57221417 57221417 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr4:57221417C>A uc003hbn.2 - 6 1187 c.1034G>T c.(1033-1035)GGT>GTT p.G345V AASDH_uc010ihb.2_5'UTR|AASDH_uc011caa.1_Missense_Mutation_p.G192V|AASDH_uc003hbo.2_Missense_Mutation_p.G245V|AASDH_uc011cab.1_5'UTR|AASDH_uc010ihc.2_Missense_Mutation_p.G345V|AASDH_uc003hbp.2_Missense_Mutation_p.G345V NM_181806 NP_861522 Q4L235 ACSF4_HUMAN aminoadipate-semialdehyde dehydrogenase 345 fatty acid metabolic process acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding ovary(4) 4 Glioma(25;0.08)|all_neural(26;0.101) all_hematologic(202;0.0017) CTCTGTGATACCATAAACATT 0.393 NA 25 43 5.35356e-11 8.74675e-11 0.00278 1 0 AASDH 132949 broad.mit.edu 37 4 57221579 57221579 + Missense_Mutation SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr4:57221579G>A uc003hbn.2 - 6 1025 c.872C>T c.(871-873)ACA>ATA p.T291I AASDH_uc010ihb.2_5'UTR|AASDH_uc011caa.1_Missense_Mutation_p.T138I|AASDH_uc003hbo.2_Missense_Mutation_p.T191I|AASDH_uc011cab.1_5'UTR|AASDH_uc010ihc.2_Missense_Mutation_p.T291I|AASDH_uc003hbp.2_Missense_Mutation_p.T291I NM_181806 NP_861522 Q4L235 ACSF4_HUMAN aminoadipate-semialdehyde dehydrogenase 291 fatty acid metabolic process acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding ovary(4) 4 Glioma(25;0.08)|all_neural(26;0.101) all_hematologic(202;0.0017) TCTAAGCAATGTTGGTGTTGC 0.343 NA 20 28 0 0 0.002299 0 0 LPHN3 23284 broad.mit.edu 37 4 62599255 62599255 + Missense_Mutation SNP C C T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr4:62599255C>T uc010ihh.2 + 5 1351 c.1178C>T c.(1177-1179)CCT>CTT p.P393L LPHN3_uc003hcq.3_Missense_Mutation_p.P393L|LPHN3_uc010ihg.1_Missense_Mutation_p.P461L|LPHN3_uc003hcs.1_Missense_Mutation_p.P222L NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN latrophilin 3 precursor 393 Extracellular (Potential).|Olfactomedin-like. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1) 18 GATTTTGGACCTCTGGATAGT 0.363 NA 6 19 0 0 0.001984 0 0 UBA6 55236 broad.mit.edu 37 4 68566807 68566807 + Nonsense_Mutation SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr4:68566807G>A uc003hdg.3 - 1 83 c.31C>T c.(31-33)CAG>TAG p.Q11* UBA6_uc003hdi.2_Nonsense_Mutation_p.Q11*|UBA6_uc003hdj.2_Nonsense_Mutation_p.Q11*|LOC550112_uc003hdl.3_5'Flank|LOC550112_uc003hdk.2_5'Flank NM_018227 NP_060697 A0AVT1 UBA6_HUMAN ubiquitin-activating enzyme E1-like 2 11 protein ubiquitination|ubiquitin-dependent protein catabolic process cytoplasm ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding 0 TCTTCCCCCTGATGGGCGGCC 0.687 NA OREG0016213 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 44 0 0 0.006122 0 0 TMPRSS11B 132724 broad.mit.edu 37 4 69107514 69107514 + Missense_Mutation SNP A A G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr4:69107514A>G uc003hdw.3 - 2 153 c.17T>C c.(16-18)ATA>ACA p.I6T NM_182502 NP_872308 Q86T26 TM11B_HUMAN transmembrane protease, serine 11B 6 Cytoplasmic (Potential). proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity ovary(1) 1 TTGGGAAGATATGCCGTGCCT 0.383 NA 7 66 0 0 0.001984 0 0 UGT2B28 54490 broad.mit.edu 37 4 70146396 70146396 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr4:70146396G>T uc003hej.2 + 1 180 c.178G>T c.(178-180)GCT>TCT p.A60S UGT2B28_uc010ihr.2_Missense_Mutation_p.A60S NM_053039 NP_444267 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, 60 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(1) 1 Flunitrazepam(DB01544) GGCATCTTCAGCTTCCATTCT 0.403 NA 88 134 1.16018e-38 2.33953e-38 0.00361 1 0 AFM 173 broad.mit.edu 37 4 74367545 74367545 + Missense_Mutation SNP A A T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr4:74367545A>T uc003hhb.2 + 13 1719 c.1688A>T c.(1687-1689)GAT>GTT p.D563V NM_001133 NP_001124 P43652 AFAM_HUMAN afamin precursor 563 Albumin 3. vitamin transport vitamin E binding ovary(2)|central_nervous_system(1) 3 Breast(15;0.00102) Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) GAACTCACAGATGAAGAGCTG 0.383 NA 11 14 0 0 0.000978 0 0 CCDC158 339965 broad.mit.edu 37 4 77288729 77288729 + Silent SNP A A G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr4:77288729A>G uc003hkb.3 - 11 1701 c.1548T>C c.(1546-1548)AAT>AAC p.N516N NM_001042784 NP_001036249 Q5M9N0 CD158_HUMAN coiled-coil domain containing 158 516 Potential. skin(3)|ovary(2)|pancreas(1) 6 TGATCTCTGCATTGGTAGCCT 0.478 NA 5 69 0 0 0.000602 0 0 SHROOM3 57619 broad.mit.edu 37 4 77691881 77691881 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr4:77691881G>T uc011cbx.1 + 10 6405 c.5452G>T c.(5452-5454)GTG>TTG p.V1818L SHROOM3_uc003hkg.2_Missense_Mutation_p.V1596L NM_020859 NP_065910 Q8TF72 SHRM3_HUMAN shroom family member 3 protein 1818 ASD2. apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding skin(2)|ovary(1) 3 Lung(101;0.0903) GGGAGAAGAGGTGGAGGCTCT 0.552 NA 30 83 1.88708e-17 3.50533e-17 0.008361 1 0 HPSE 10855 broad.mit.edu 37 4 84227453 84227453 + Missense_Mutation SNP C C A rs138882001 byFrequency TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr4:84227453C>A uc003hoj.3 - 9 1208 c.1109G>T c.(1108-1110)GGC>GTC p.G370V HPSE_uc010ika.2_Missense_Mutation_p.G312V|HPSE_uc011ccq.1_RNA|HPSE_uc011ccr.1_Intron|HPSE_uc011ccs.1_Missense_Mutation_p.G113V|HPSE_uc011cct.1_Intron|HPSE_uc003hok.3_Missense_Mutation_p.G370V NM_001098540 NP_001092010 Q9Y251 HPSE_HUMAN heparanase precursor 370 carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process extracellular region|lysosomal membrane|nucleus beta-glucuronidase activity|cation binding ovary(1) 1 Hepatocellular(203;0.114) COAD - Colon adenocarcinoma(81;0.141) Heparin(DB01109) GGCTGACAGGCCCAATTTATC 0.423 NA 15 52 2.23348e-06 3.05455e-06 0.004007 1 0 WDFY3 23001 broad.mit.edu 37 4 85731345 85731345 + Silent SNP T T C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr4:85731345T>C uc003hpd.2 - 14 2448 c.2040A>G c.(2038-2040)CAA>CAG p.Q680Q WDFY3_uc003hpf.2_Silent_p.Q680Q NM_014991 NP_055806 Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 isoform 680 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding ovary(2)|central_nervous_system(1) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) GTTCAAACACTTGATTCTGGT 0.438 NA 4 98 0 0 0.000602 0 0 FAM190A 401145 broad.mit.edu 37 4 91229571 91229571 + Missense_Mutation SNP C C T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr4:91229571C>T uc003hsv.3 + 2 476 c.136C>T c.(136-138)CCT>TCT p.P46S FAM190A_uc003hsu.3_Missense_Mutation_p.P46S|FAM190A_uc010ikv.2_RNA|FAM190A_uc003hsw.2_Missense_Mutation_p.P46S NM_001145065 NP_001138537 Q9C0I3 F190A_HUMAN KIAA1680 protein isoform 1 46 Ser-rich. large_intestine(1)|ovary(1) 2 CAGTTCCTCTCCTTCCAGCAC 0.458 NA 5 56 0 0 0.000602 0 0 DKK2 27123 broad.mit.edu 37 4 107845822 107845822 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr4:107845822G>T uc003hyi.2 - 3 1114 c.409C>A c.(409-411)CCT>ACT p.P137T DKK2_uc010ilw.1_RNA|DKK2_uc003hyj.1_Missense_Mutation_p.P137T NM_014421 NP_055236 Q9UBU2 DKK2_HUMAN dickkopf homolog 2 precursor 137 multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway extracellular space ovary(3)|lung(1)|skin(1) 5 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;6.34e-06) GGGATGTGAGGGGTTAAGATG 0.433 NA 5 93 8.12818e-05 0.000101263 0.001984 1 0 SEC24B 10427 broad.mit.edu 37 4 110384497 110384497 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr4:110384497G>T uc003hzk.2 + 2 629 c.574G>T c.(574-576)GCG>TCG p.A192S SEC24B_uc003hzl.2_Missense_Mutation_p.A192S|SEC24B_uc011cfp.1_Missense_Mutation_p.A223S|SEC24B_uc011cfq.1_Missense_Mutation_p.A192S|SEC24B_uc011cfr.1_Missense_Mutation_p.A192S NM_006323 NP_006314 O95487 SC24B_HUMAN SEC24 (S. cerevisiae) homolog B isoform a 192 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 protein binding|transporter activity|zinc ion binding ovary(2)|large_intestine(1) 3 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;3.03e-05) TTCTAATGCCGCGTATCCTAG 0.453 NA 6 188 0.00116845 0.00137772 0.001168 1 0 SEC24B 10427 broad.mit.edu 37 4 110434907 110434907 + Silent SNP T T C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr4:110434907T>C uc003hzk.2 + 10 1963 c.1908T>C c.(1906-1908)CCT>CCC p.P636P SEC24B_uc003hzl.2_Silent_p.P601P|SEC24B_uc011cfp.1_Silent_p.P666P|SEC24B_uc011cfq.1_Silent_p.P635P|SEC24B_uc011cfr.1_Silent_p.P600P NM_006323 NP_006314 O95487 SC24B_HUMAN SEC24 (S. cerevisiae) homolog B isoform a 636 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 protein binding|transporter activity|zinc ion binding ovary(2)|large_intestine(1) 3 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;3.03e-05) ATCTAGTTCCTGAAGAATTTA 0.333 NA 3 85 0 0 0.000248 0 0 C4orf31 79625 broad.mit.edu 37 4 121966809 121966809 + Missense_Mutation SNP T T C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr4:121966809T>C uc003idq.1 - 2 711 c.184A>G c.(184-186)AAG>GAG p.K62E NM_024574 NP_078850 Q8TB73 CD031_HUMAN hypothetical protein LOC79625 precursor 62 0 GAATACCTCTTAGGTGTATCT 0.358 NA 24 20 0 0 0.004656 0 0 PCDH10 57575 broad.mit.edu 37 4 134084345 134084345 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr4:134084345G>T uc003iha.2 + 4 3837 c.3011G>T c.(3010-3012)GGC>GTC p.G1004V NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 1004 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) TCCACCTTTGGCAAAGAGAAG 0.517 NA 50 90 2.12129e-23 4.14082e-23 0.00361 1 0 LRBA 987 broad.mit.edu 37 4 151827516 151827516 + Missense_Mutation SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr4:151827516G>A uc010ipj.2 - 12 2009 c.1535C>T c.(1534-1536)TCA>TTA p.S512L LRBA_uc003ilu.3_Missense_Mutation_p.S512L|LRBA_uc010ipk.1_Missense_Mutation_p.S431L NM_006726 NP_006717 P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and 512 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding ovary(3)|breast(3)|skin(1) 7 all_hematologic(180;0.151) CATAGCAATTGAGTTCTTCAA 0.308 NA 5 118 0 0 0.001984 0 0 DCHS2 54798 broad.mit.edu 37 4 155156222 155156222 + Missense_Mutation SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr4:155156222C>G uc003inw.2 - 25 8217 c.8217G>C c.(8215-8217)GAG>GAC p.E2739D NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 2739 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|pancreas(1) 4 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) CCAGGATGCTCTCTTTTGCCT 0.473 NA 6 33 0 0 0.001168 0 0 GUCY1B3 2983 broad.mit.edu 37 4 156696161 156696161 + Missense_Mutation SNP G G C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr4:156696161G>C uc003ipc.2 + 3 286 c.119G>C c.(118-120)AGA>ACA p.R40T GUCY1B3_uc011cio.1_Missense_Mutation_p.R40T|GUCY1B3_uc011cip.1_Missense_Mutation_p.R20T|GUCY1B3_uc003ipd.2_5'UTR|GUCY1B3_uc010iqf.2_Missense_Mutation_p.R40T|GUCY1B3_uc010iqg.2_5'UTR|GUCY1B3_uc011ciq.1_5'UTR NM_000857 NP_000848 Q02153 GCYB1_HUMAN guanylate cyclase 1, soluble, beta 3 40 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble|intracellular membrane-bounded organelle GTP binding|guanylate cyclase activity|receptor activity 0 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.148) TTTCTTGTCAGAATAATATAT 0.358 NA 3 107 0 0 0.004672 0 0 ACCN5 51802 broad.mit.edu 37 4 156763423 156763423 + Nonsense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr4:156763423G>T uc003ipe.1 - 6 992 c.945C>A c.(943-945)TGC>TGA p.C315* NM_017419 NP_059115 Q9NY37 ACCN5_HUMAN amiloride-sensitive cation channel 5, 315 Extracellular (Potential). integral to membrane|plasma membrane ovary(2)|skin(1) 3 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.0464)|Kidney(143;0.058)|COAD - Colon adenocarcinoma(41;0.141) ATTCCTTCAAGCAACCAGAAG 0.398 NA 21 43 3.62473e-10 5.78149e-10 0.001882 1 0 FNIP2 57600 broad.mit.edu 37 4 159753234 159753234 + Silent SNP G G C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr4:159753234G>C uc003iqe.3 + 5 681 c.498G>C c.(496-498)CTG>CTC p.L166L FNIP2_uc003iqd.2_Silent_p.L166L NM_020840 NP_065891 Q9P278 FNIP2_HUMAN folliculin interacting protein 2 166 DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation cytoplasm protein binding 0 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.00936) CTCCACAACTGATGATTAGTA 0.403 NA 6 36 0 0 0.001168 0 0 AADAT 51166 broad.mit.edu 37 4 171010812 171010812 + Silent SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr4:171010812C>G uc003isr.2 - 1 372 c.30G>C c.(28-30)GCG>GCC p.A10A AADAT_uc003iss.2_Silent_p.A10A|AADAT_uc003ist.2_Silent_p.A10A NM_016228 NP_057312 Q8N5Z0 AADAT_HUMAN kynurenine aminotransferase II 10 2-oxoglutarate metabolic process|biosynthetic process|glutamate metabolic process|lysine catabolic process mitochondrial matrix 2-aminoadipate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity 0 Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17) GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118) L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) TGGCTGCGCTCGCTGCCGTGA 0.537 NA OREG0016403 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 37 110 0 0 0.007835 0 0 KIAA1712 80817 broad.mit.edu 37 4 175223237 175223237 + Missense_Mutation SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr4:175223237C>G uc003itr.2 + 4 551 c.137C>G c.(136-138)TCT>TGT p.S46C KIAA1712_uc010iro.2_Missense_Mutation_p.S46C|KIAA1712_uc003its.2_RNA NM_001040157 NP_001035247 Q9C0F1 CEP44_HUMAN HBV PreS1-transactivated protein 3 isoform a 46 centrosome|midbody|spindle pole 0 Prostate(90;0.00276)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196) all cancers(43;4.06e-18)|Epithelial(43;1.18e-15)|OV - Ovarian serous cystadenocarcinoma(60;4.65e-09)|GBM - Glioblastoma multiforme(59;0.00098)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0949) ATCAGCTATTCTTTTACCTCA 0.328 NA 7 55 0 0 0.004482 0 0 NEIL3 55247 broad.mit.edu 37 4 178274629 178274629 + Nonsense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr4:178274629G>T uc003iut.2 + 8 1324 c.1207G>T c.(1207-1209)GAA>TAA p.E403* NEIL3_uc010irs.2_3'UTR NM_018248 NP_060718 Q8TAT5 NEIL3_HUMAN nei endonuclease VIII-like 3 403 base-excision repair|nucleotide-excision repair nucleus bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding lung(2)|ovary(1)|central_nervous_system(1) 4 Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164) all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191) CAGTACTTTGGAAAGAAAAAC 0.368 NA BER_DNA_glycosylases 16 18 6.31663e-08 9.24099e-08 0.003163 1 0 TLR3 7098 broad.mit.edu 37 4 187003533 187003533 + Silent SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr4:187003533C>G uc003iyq.2 + 4 794 c.693C>G c.(691-693)GTC>GTG p.V231V TLR3_uc011ckz.1_5'UTR|TLR3_uc003iyr.2_5'UTR NM_003265 NP_003256 O15455 TLR3_HUMAN toll-like receptor 3 precursor 231 Lumenal (Potential).|LRR 8. activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane double-stranded RNA binding|transmembrane receptor activity ovary(2)|prostate(1)|lung(1)|breast(1) 5 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16) TGAACAATGTCCAGCTGGGTC 0.428 NA 17 98 0 0 0.006122 0 0 AHRR 57491 broad.mit.edu 37 5 376812 376812 + Missense_Mutation SNP A A G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr5:376812A>G uc003jav.2 + 4 388 c.344A>G c.(343-345)GAG>GGG p.E115G AHRR_uc003jaw.2_Missense_Mutation_p.E111G|AHRR_uc010isy.2_Intron|AHRR_uc010isz.2_Missense_Mutation_p.E111G NM_020731 NP_065782 A9YTQ3 AHRR_HUMAN arylhydrocarbon receptor repressor 115 PAS. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(2) 2 Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863) GCCGTGCTGGAGGGAAGGCTG 0.627 NA 16 7 0 0 0.004007 0 0 SLC6A19 340024 broad.mit.edu 37 5 1221362 1221362 + Silent SNP C C T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr5:1221362C>T uc003jbw.3 + 11 1691 c.1635C>T c.(1633-1635)ATC>ATT p.I545I NM_001003841 NP_001003841 Q695T7 S6A19_HUMAN solute carrier family 6, member 19 545 Helical; Name=11; (Potential). cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity 0 all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10) Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) TGCTGATCATCTTCCTCTTCT 0.567 NA 10 30 0 0 0.006214 0 0 ADCY2 108 broad.mit.edu 37 5 7396557 7396557 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr5:7396557C>A uc003jdz.1 + 1 215 c.148C>A c.(148-150)CTG>ATG p.L50M NM_020546 NP_065433 Q08462 ADCY2_HUMAN adenylate cyclase 2 50 Helical; (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding ovary(5)|pancreas(1)|skin(1) 7 CATCGTCTTCCTGCTGCTCAT 0.711 NA 46 26 1.38658e-30 2.75877e-30 0.00361 1 0 SEMA5A 9037 broad.mit.edu 37 5 9043077 9043077 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr5:9043077G>T uc003jek.2 - 23 3869 c.3157C>A c.(3157-3159)CCA>ACA p.P1053T NM_003966 NP_003957 Q13591 SEM5A_HUMAN semaphorin 5A precursor 1053 Cytoplasmic (Potential). cell adhesion|cell-cell signaling integral to membrane|plasma membrane ovary(1)|central_nervous_system(1) 2 GTGAGATGTGGGTTGAAGTAT 0.328 NA 7 53 8.12818e-05 0.000101263 0.001984 1 0 SEMA5A 9037 broad.mit.edu 37 5 9063218 9063218 + Splice_Site SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr5:9063218C>A uc003jek.2 - 18 3012 c.2300_splice c.e18-1 p.G767_splice NM_003966 NP_003957 Q13591 SEM5A_HUMAN semaphorin 5A precursor cell adhesion|cell-cell signaling integral to membrane|plasma membrane ovary(1)|central_nervous_system(1) 2 CCAGAAAGCCCTGCCAAGGAA 0.522 NA 5 22 0.000602214 0.000715729 0.000602 1 0 SEMA5A 9037 broad.mit.edu 37 5 9122858 9122858 + Missense_Mutation SNP A A T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr5:9122858A>T uc003jek.2 - 14 2403 c.1691T>A c.(1690-1692)CTC>CAC p.L564H NM_003966 NP_003957 Q13591 SEM5A_HUMAN semaphorin 5A precursor 564 Extracellular (Potential).|TSP type-1 1. cell adhesion|cell-cell signaling integral to membrane|plasma membrane ovary(1)|central_nervous_system(1) 2 GGTTCGACAGAGGCAGGATCC 0.652 NA 7 127 0 0 0.00308 0 0 MARCH6 10299 broad.mit.edu 37 5 10417481 10417481 + Missense_Mutation SNP C C T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr5:10417481C>T uc003jet.1 + 22 2431 c.2248C>T c.(2248-2250)CCC>TCC p.P750S MARCH6_uc011cmu.1_Missense_Mutation_p.P702S|MARCH6_uc003jeu.1_Missense_Mutation_p.P448S|MARCH6_uc011cmv.1_Missense_Mutation_p.P645S NM_005885 NP_005876 O60337 MARH6_HUMAN membrane-associated ring finger (C3HC4) 6 750 Extracellular (Potential). protein K48-linked ubiquitination integral to endoplasmic reticulum membrane ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|breast(1) 2 CCTGAGGGTTCCCTTGGATCA 0.438 NA 6 195 0 0 0.00308 0 0 DNAH5 1767 broad.mit.edu 37 5 13766226 13766226 + Missense_Mutation SNP C C T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr5:13766226C>T uc003jfd.2 - 59 10002 c.9960G>A c.(9958-9960)ATG>ATA p.M3320I DNAH5_uc003jfc.2_5'UTR NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3320 Stalk (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) CCATGATCCGCATGATGAGGT 0.537 NA Kartagener_syndrome 125 97 0 0 0.00361 0 0 DNAH5 1767 broad.mit.edu 37 5 13876872 13876872 + Missense_Mutation SNP T T C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr5:13876872T>C uc003jfd.2 - 22 3359 c.3317A>G c.(3316-3318)TAT>TGT p.Y1106C NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1106 Stem (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) ATTCTTATAATAGTTCTTGGT 0.343 NA Kartagener_syndrome 15 91 0 0 0.003163 0 0 MARCH11 441061 broad.mit.edu 37 5 16067773 16067773 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr5:16067773G>T uc003jfo.2 - 4 1229 c.1016C>A c.(1015-1017)TCC>TAC p.S339Y MARCH11_uc010itw.1_Missense_Mutation_p.S95Y NM_001102562 NP_001096032 A6NNE9 MARHB_HUMAN membrane-associated ring finger (C3HC4) 11 339 cytoplasmic vesicle membrane|integral to membrane ligase activity|zinc ion binding 0 CCTACTTGTGGAAGACTCTCC 0.483 NA 15 70 1.05317e-09 1.65622e-09 0.00245 1 0 CDH12 1010 broad.mit.edu 37 5 22078722 22078722 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr5:22078722G>T uc010iuc.2 - 2 522 c.64C>A c.(64-66)CCA>ACA p.P22T CDH12_uc011cno.1_Missense_Mutation_p.P22T|CDH12_uc003jgk.2_Missense_Mutation_p.P22T NM_004061 NP_004052 P55289 CAD12_HUMAN cadherin 12, type 2 preproprotein 22 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 GGTTGTAGTGGTGTTAGGAGA 0.458 NA HNSCC(59;0.17) 61 241 2.40885e-21 4.68174e-21 0.00361 1 0 PRDM9 56979 broad.mit.edu 37 5 23509638 23509638 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr5:23509638G>T uc003jgo.2 + 3 311 c.129G>T c.(127-129)ATG>ATT p.M43I NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 43 KRAB-related. 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 GGGCAGAGATGGGAGACTGGG 0.433 NA HNSCC(3;0.000094) 30 196 5.45727e-16 9.89084e-16 0.008361 1 0 TARS 6897 broad.mit.edu 37 5 33453497 33453497 + Missense_Mutation SNP G G C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr5:33453497G>C uc003jhy.2 + 4 728 c.433G>C c.(433-435)GAG>CAG p.E145Q TARS_uc011cob.1_Missense_Mutation_p.E133Q|TARS_uc010iup.1_Missense_Mutation_p.E86Q|TARS_uc011coc.1_Missense_Mutation_p.E166Q|TARS_uc003jhz.2_Missense_Mutation_p.E41Q|TARS_uc011cod.1_Intron NM_152295 NP_689508 P26639 SYTC_HUMAN threonyl-tRNA synthetase 145 threonyl-tRNA aminoacylation cytosol ATP binding|protein homodimerization activity|threonine-tRNA ligase activity ovary(2) 2 L-Threonine(DB00156) TCTCAAGTTTGAGGATGAGGA 0.453 NA 12 125 0 0 0.001368 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33561252 33561253 + Missense_Mutation DNP CC CC AA TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr5:33561252_33561253CC>AA uc003jia.1 - 20 4167_4168 c.4004_4005GG>TT c.(4003-4005)TGG>TTT p.W1335F ADAMTS12_uc010iuq.1_Missense_Mutation_p.W1250F NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 1335 TSP type-1 5. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 CCACCCTTCTCCAGTAGGCCCC 0.589 NA HNSCC(64;0.19) 11 74 0 0 0.004672 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33576225 33576225 + Silent SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr5:33576225G>T uc003jia.1 - 19 4069 c.3906C>A c.(3904-3906)GCC>GCA p.A1302A ADAMTS12_uc010iuq.1_Silent_p.A1217A NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 1302 Spacer 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 TGTAATTGGAGGCATTTAGCA 0.473 NA HNSCC(64;0.19) 46 252 6.61955e-31 1.319e-30 0.00361 1 0 ADAMTS12 81792 broad.mit.edu 37 5 33683200 33683200 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr5:33683200C>A uc003jia.1 - 5 1001 c.838G>T c.(838-840)GGG>TGG p.G280W ADAMTS12_uc010iuq.1_Missense_Mutation_p.G280W NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 280 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 TGGAACAACCCAGTGACCTAG 0.373 NA HNSCC(64;0.19) 12 36 1.49906e-05 1.9584e-05 0.00245 1 0 SLC45A2 51151 broad.mit.edu 37 5 33947441 33947441 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr5:33947441C>A uc003jid.2 - 6 1287 c.1195G>T c.(1195-1197)GGT>TGT p.G399C SLC45A2_uc003jie.2_Missense_Mutation_p.G399C NM_016180 NP_057264 Q9UMX9 S45A2_HUMAN membrane-associated transporter protein isoform 399 Helical; Name=9; (Potential). melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception integral to membrane|melanosome membrane ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 AAGTAAAGACCCTTTAATCCA 0.453 Ovarian(31;380 859 8490 22203 49048) NA 86 66 3.3814e-41 6.84951e-41 0.00361 1 0 TTC23L 153657 broad.mit.edu 37 5 34845617 34845617 + Missense_Mutation SNP C C T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr5:34845617C>T uc003jiu.2 + 3 197 c.94C>T c.(94-96)CAC>TAC p.H32Y NM_144725 NP_653326 Q6PF05 TT23L_HUMAN tetratricopeptide repeat domain 23-like 32 binding central_nervous_system(1) 1 GATCCCAGCTCACCAGCAAAC 0.458 NA 5 91 0 0 0.000602 0 0 UGT3A2 167127 broad.mit.edu 37 5 36049077 36049077 + Missense_Mutation SNP A A T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr5:36049077A>T uc003jjz.1 - 4 850 c.757T>A c.(757-759)TTT>ATT p.F253I UGT3A2_uc011cos.1_Missense_Mutation_p.F219I|UGT3A2_uc011cot.1_Intron NM_174914 NP_777574 Q3SY77 UD3A2_HUMAN UDP glycosyltransferase 3 family, polypeptide A2 253 Extracellular (Potential). integral to membrane glucuronosyltransferase activity ovary(2)|skin(2)|large_intestine(1)|pancreas(1) 6 all_lung(31;0.000179) Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TCAAAGGCAAAGTCAGAGTTA 0.418 NA 22 106 0 0 0.00278 0 0 C5orf42 65250 broad.mit.edu 37 5 37169174 37169174 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr5:37169174C>A uc011cpa.1 - 34 7183 c.6952G>T c.(6952-6954)GAT>TAT p.D2318Y C5orf42_uc011coy.1_Missense_Mutation_p.D818Y|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Missense_Mutation_p.D1393Y|C5orf42_uc003jkr.1_Missense_Mutation_p.D351Y NM_023073 NP_075561 E9PH94 E9PH94_HUMAN hypothetical protein LOC65250 2318 ovary(4)|breast(2)|skin(1) 7 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) ACATATTGATCCAAGTTCACA 0.373 NA 26 172 2.79863e-10 4.48516e-10 0.004656 1 0 HEATR7B2 133558 broad.mit.edu 37 5 41052593 41052593 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr5:41052593G>T uc003jmj.3 - 12 1694 c.1204C>A c.(1204-1206)CAG>AAG p.Q402K HEATR7B2_uc003jmi.3_Intron NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 402 binding ovary(6)|central_nervous_system(2) 8 GTTGCAAACTGGGAGAAGACA 0.388 NA 17 122 3.32936e-07 4.72157e-07 0.006122 1 0 HCN1 348980 broad.mit.edu 37 5 45262343 45262343 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr5:45262343G>T uc003jok.2 - 8 2378 c.2353C>A c.(2353-2355)CCA>ACA p.P785T NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 785 Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 GCGGAGAGTGGCCTGACTTCC 0.627 NA 11 72 0.00010058 0.000124382 0.001368 1 0 GZMA 3001 broad.mit.edu 37 5 54403630 54403630 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr5:54403630G>T uc003jpm.2 + 3 261 c.224G>T c.(223-225)AGG>ATG p.R75M NM_006144 NP_006135 P12544 GRAA_HUMAN granzyme A precursor 75 Peptidase S1. cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis extracellular region|immunological synapse|nucleus protein homodimerization activity|serine-type endopeptidase activity ovary(2)|pancreas(1)|skin(1) 4 Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183) AGGAACAAAAGGTCCCAGGTC 0.388 NA 9 21 1.08611e-07 1.56675e-07 0.000978 1 0 VCAN 1462 broad.mit.edu 37 5 82816151 82816151 + Missense_Mutation SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr5:82816151C>G uc003kii.3 + 7 2382 c.2026C>G c.(2026-2028)CTA>GTA p.L676V VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.L676V|VCAN_uc003kik.3_Intron NM_004385 NP_004376 P13611 CSPG2_HUMAN versican isoform 1 precursor 676 GAG-alpha (glucosaminoglycan attachment domain). cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding ovary(7)|skin(6)|lung(2)|central_nervous_system(1) 16 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) TTATCCTTCTCTACAAACAGA 0.328 NA 21 35 0 0 0.001216 0 0 GPR98 84059 broad.mit.edu 37 5 89949444 89949444 + Silent SNP A A G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr5:89949444A>G uc003kju.2 + 20 4149 c.4053A>G c.(4051-4053)ACA>ACG p.T1351T GPR98_uc003kjt.2_5'UTR NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 1351 Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) GGAATAATACAATTGCCAACT 0.458 NA 4 14 0 0 0.000602 0 0 ERAP2 64167 broad.mit.edu 37 5 96232566 96232566 + Missense_Mutation SNP A A T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr5:96232566A>T uc003kmq.2 + 9 2212 c.1502A>T c.(1501-1503)AAT>ATT p.N501I uc003kmo.1_Intron|ERAP2_uc003kmt.2_Missense_Mutation_p.N501I|ERAP2_uc003kmr.2_RNA|ERAP2_uc003kms.2_Missense_Mutation_p.N450I|ERAP2_uc003kmu.2_RNA NM_022350 NP_071745 Q6P179 ERAP2_HUMAN endoplasmic reticulum aminopeptidase 2 501 Lumenal (Potential). antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding 0 all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105) COAD - Colon adenocarcinoma(37;0.0703) AGTCTGTCAAATGTAAGTCAT 0.323 NA 9 118 0 0 0.001368 0 0 FER 2241 broad.mit.edu 37 5 108134001 108134001 + Nonsense_Mutation SNP A A T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr5:108134001A>T uc003kop.1 + 3 502 c.118A>T c.(118-120)AAA>TAA p.K40* FER_uc011cve.1_Intron|FER_uc011cvf.1_RNA|FER_uc003koq.2_Nonsense_Mutation_p.K40*|FER_uc011cvg.1_5'UTR NM_005246 NP_005237 P16591 FER_HUMAN fer (fps/fes related) tyrosine kinase 40 Important for interaction with membranes containing phosphoinositides.|FCH. intracellular signal transduction|peptidyl-tyrosine phosphorylation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity lung(2)|stomach(1)|ovary(1)|kidney(1) 5 all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152) OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174) AAAAAGTGATAAAGAATATGC 0.343 Colon(146;1051 1799 9836 27344 47401) NA 8 18 0 0 0.004482 0 0 TSLP 85480 broad.mit.edu 37 5 110407649 110407649 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr5:110407649C>A uc003kpb.2 + 1 260 c.61C>A c.(61-63)CAA>AAA p.Q21K TSLP_uc003kpa.2_RNA|TSLP_uc010jbt.1_5'Flank NM_033035 NP_149024 Q969D9 TSLP_HUMAN thymic stromal lymphopoietin isoform 1 21 extracellular space cytokine activity 0 all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109) CTTCATCTTACAACTTGTAGG 0.388 NA 32 45 1.30897e-18 2.47948e-18 0.001786 1 0 SEMA6A 57556 broad.mit.edu 37 5 115783231 115783231 + Missense_Mutation SNP G G C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr5:115783231G>C uc010jck.2 - 19 2880 c.2171C>G c.(2170-2172)ACG>AGG p.T724R SEMA6A_uc003krx.3_Missense_Mutation_p.T741R|SEMA6A_uc011cwe.1_Missense_Mutation_p.T103R|SEMA6A_uc003krv.3_Missense_Mutation_p.T151R|SEMA6A_uc003krw.3_Missense_Mutation_p.T201R|SEMA6A_uc010jcj.2_Missense_Mutation_p.T268R NM_020796 NP_065847 Q9H2E6 SEM6A_HUMAN sema domain, transmembrane domain (TM), and 724 Cytoplasmic (Potential). apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis axon|integral to membrane|plasma membrane receptor activity ovary(2) 2 all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203) OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151) CATGAGTGGCGTGAGGATGGC 0.632 NA 5 201 0 0 0.000602 0 0 DMXL1 1657 broad.mit.edu 37 5 118580152 118580152 + Missense_Mutation SNP G G C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr5:118580152G>C uc003ksd.2 + 42 8921 c.8740G>C c.(8740-8742)GAC>CAC p.D2914H DMXL1_uc010jcl.1_Missense_Mutation_p.D2935H|DMXL1_uc010jcm.1_RNA|DMXL1_uc003kse.1_Missense_Mutation_p.D88H NM_005509 NP_005500 Q9Y485 DMXL1_HUMAN Dmx-like 1 2914 WD 14. ovary(2) 2 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) ATATGTATTTGACCTTTGTCA 0.423 NA 8 37 0 0 0.00308 0 0 FTMT 94033 broad.mit.edu 37 5 121188138 121188138 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr5:121188138G>T uc003kss.2 + 1 489 c.480G>T c.(478-480)ATG>ATT p.M160I NM_177478 NP_803431 Q8N4E7 FTMT_HUMAN ferritin mitochondrial precursor 160 Ferritin-like diiron. cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity mitochondrion ferric iron binding|ferroxidase activity ovary(1) 1 all_cancers(142;0.0124)|Prostate(80;0.0322) KIRC - Kidney renal clear cell carcinoma(527;0.206) Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027) TGCATGCCATGGAGTGTGCTC 0.557 NA 36 77 1.90571e-15 3.42161e-15 0.004289 1 0 FBN2 2201 broad.mit.edu 37 5 127611777 127611777 + Missense_Mutation SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr5:127611777G>A uc003kuu.2 - 59 7986 c.7547C>T c.(7546-7548)TCA>TTA p.S2516L NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 2516 EGF-like 42; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) CCTCGGACATGAACACTGATA 0.448 NA 7 50 0 0 0.001984 0 0 ADAMTS19 171019 broad.mit.edu 37 5 129037099 129037099 + Missense_Mutation SNP G G C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr5:129037099G>C uc003kvb.1 + 20 2955 c.2955G>C c.(2953-2955)TGG>TGC p.W985C ADAMTS19_uc010jdh.1_RNA NM_133638 NP_598377 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 985 TSP type-1 3. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(5)|breast(2)|lung(1)|skin(1) 9 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) TGACAGAATGGACCCCTTGTT 0.388 NA 22 51 0 0 0.00333 0 0 IL9 3578 broad.mit.edu 37 5 135229727 135229727 + Silent SNP T T C rs144819897 byFrequency TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr5:135229727T>C uc003lbb.1 - 4 308 c.297A>G c.(295-297)CTA>CTG p.L99L NM_000590 NP_000581 P15248 IL9_HUMAN interleukin 9 precursor 99 immune response|inflammatory response|positive regulation of cell proliferation|positive regulation of interleukin-5 biosynthetic process extracellular space cytokine activity|cytokine receptor binding|growth factor activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TGTTGTTCTTTAGTACTTCAA 0.398 NA 16 7 0 0 0.004007 0 0 KDM3B 51780 broad.mit.edu 37 5 137727287 137727287 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr5:137727287G>T uc003lcy.1 + 8 2166 c.1966G>T c.(1966-1968)GCA>TCA p.A656S KDM3B_uc010jew.1_Missense_Mutation_p.A312S|KDM3B_uc011cys.1_Intron NM_016604 NP_057688 Q7LBC6 KDM3B_HUMAN jumonji domain containing 1B 656 Ser-rich. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1) 11 TGCATCTCAGGCATCAGGTAG 0.507 NA 28 33 4.22769e-11 6.95808e-11 0.00632 1 0 PCDHA3 56145 broad.mit.edu 37 5 140182981 140182981 + Silent SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr5:140182981G>T uc003lhf.2 + 1 2199 c.2199G>T c.(2197-2199)GGG>GGT p.G733G PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Silent_p.G733G NM_018906 NP_061729 Q9Y5H8 PCDA3_HUMAN protocadherin alpha 3 isoform 1 precursor 733 Cytoplasmic (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(6)|skin(2) 8 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGACTGTGGGCCGGGCAAGC 0.647 NA 40 65 9.73076e-26 1.919e-25 0.006999 1 0 PCDHA11 56138 broad.mit.edu 37 5 140249457 140249457 + Missense_Mutation SNP A A G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr5:140249457A>G uc003lia.2 + 1 1627 c.769A>G c.(769-771)AAA>GAA p.K257E 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_uc011dae.1_Missense_Mutation_p.K257E NM_018902 NP_061725 Q9Y5I1 PCDAB_HUMAN protocadherin alpha 11 isoform 1 precursor 257 Extracellular (Potential).|Cadherin 3. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAATGCTGCTAAAGAAACTCT 0.428 NA 6 5 0 0 0.001168 0 0 PCDHB2 56133 broad.mit.edu 37 5 140475034 140475034 + Silent SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr5:140475034G>T uc003lil.2 + 1 798 c.660G>T c.(658-660)GGG>GGT p.G220G PCDHB2_uc003lim.1_5'UTR NM_018936 NP_061759 Q9Y5E7 PCDB2_HUMAN protocadherin beta 2 precursor 220 Extracellular (Potential).|Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding ovary(3)|upper_aerodigestive_tract(2)|pancreas(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TAGATGGCGGGAGTCCACCCA 0.557 NA 7 22 0.00198382 0.00231877 0.001984 1 0 PCDHB17 54661 broad.mit.edu 37 5 140536781 140536781 + Missense_Mutation SNP A A T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr5:140536781A>T uc003lis.2 + 1 1202 c.1202A>T c.(1201-1203)TAC>TTC p.Y401F NR_001280 SubName: Full=Protocadherin-psi1; 0 GAAAATTTCTACACTTTGTTA 0.468 NA 7 22 0 0 0.001984 0 0 PCDHB9 56127 broad.mit.edu 37 5 140568367 140568367 + Silent SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr5:140568367G>T uc003liw.1 + 3 1476 c.1476G>T c.(1474-1476)CCG>CCT p.P492P NM_019119 NP_061992 Q9Y5E1 PCDB9_HUMAN protocadherin beta 9 precursor 492 Extracellular (Potential).|Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGCTGCTGCCGCCCCAGGACC 0.662 NA 75 112 3.54697e-40 7.16328e-40 0.00361 1 0 PCDHB14 56122 broad.mit.edu 37 5 140604284 140604284 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr5:140604284C>A uc003ljb.2 + 1 1207 c.1207C>A c.(1207-1209)CTA>ATA p.L403I PCDHB14_uc011dal.1_Missense_Mutation_p.L250I NM_018934 NP_061757 Q9Y5E9 PCDBE_HUMAN protocadherin beta 14 precursor 403 Cadherin 4.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTTTTTCACTCTAGTTTCTGA 0.458 Ovarian(141;50 1831 27899 33809 37648) NA 54 81 2.76378e-25 5.44247e-25 0.00361 1 0 SH3TC2 79628 broad.mit.edu 37 5 148392151 148392151 + Missense_Mutation SNP A A T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr5:148392151A>T uc003lpu.2 - 13 3352 c.3200T>A c.(3199-3201)CTG>CAG p.L1067Q SH3TC2_uc003lpp.1_RNA|SH3TC2_uc010jgw.2_Missense_Mutation_p.L711Q|SH3TC2_uc003lps.2_RNA|SH3TC2_uc003lpt.2_Missense_Mutation_p.L614Q|SH3TC2_uc010jgx.2_Missense_Mutation_p.L1060Q NM_024577 NP_078853 Q8TF17 S3TC2_HUMAN SH3 domain and tetratricopeptide repeats 2 1067 binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCTACCTGCAGGCACAGCTC 0.597 NA 7 34 0 0 0.00308 0 0 CDX1 1044 broad.mit.edu 37 5 149563122 149563122 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr5:149563122C>A uc003lrq.2 + 3 773 c.677C>A c.(676-678)CCG>CAG p.P226Q NM_001804 NP_001795 P47902 CDX1_HUMAN caudal type homeobox 1 226 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1) 2 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCACAGCCGCCGATGGCCCAC 0.637 NA 15 17 6.31663e-08 9.24099e-08 0.003163 1 0 NDST1 3340 broad.mit.edu 37 5 149907801 149907801 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr5:149907801G>T uc003lsk.3 + 3 1451 c.949G>T c.(949-951)GAC>TAC p.D317Y NDST1_uc011dcj.1_Missense_Mutation_p.D317Y|NDST1_uc003lsl.2_Missense_Mutation_p.D317Y NM_001543 NP_001534 P52848 NDST1_HUMAN N-deacetylase/N-sulfotransferase (heparan 317 Heparan sulfate N-deacetylase 1.|Lumenal (Potential). heparan sulfate proteoglycan biosynthetic process|inflammatory response Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity breast(1)|skin(1) 2 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CATCCTGGTGGACATTGATGA 0.612 NA 14 37 2.31682e-05 2.98321e-05 0.003163 1 0 ANXA6 309 broad.mit.edu 37 5 150483222 150483222 + Missense_Mutation SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr5:150483222C>G uc003ltl.1 - 25 2023 c.1871G>C c.(1870-1872)AGG>ACG p.R624T ANXA6_uc011dcp.1_Missense_Mutation_p.R592T|ANXA6_uc003ltm.1_Missense_Mutation_p.R618T|ANXA6_uc003ltn.1_Missense_Mutation_p.R411T|ANXA6_uc003lto.1_Missense_Mutation_p.R211T NM_001155 NP_001146 P08133 ANXA6_HUMAN annexin VI isoform 1 624 Annexin 8. melanosome calcium ion binding|calcium-dependent phospholipid binding|protein binding 0 Medulloblastoma(196;0.0912)|all_hematologic(541;0.208) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TACCATGATCCTGGTCAGAGT 0.532 NA 6 8 0 0 0.001984 0 0 ADAM19 8728 broad.mit.edu 37 5 156926626 156926626 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr5:156926626C>A uc003lwz.2 - 13 1417 c.1353G>T c.(1351-1353)AGG>AGT p.R451S ADAM19_uc003lww.1_Missense_Mutation_p.R184S|ADAM19_uc003lwy.2_Missense_Mutation_p.R50S|ADAM19_uc011ddr.1_Missense_Mutation_p.R382S NM_033274 NP_150377 Q9H013 ADA19_HUMAN ADAM metallopeptidase domain 19 preproprotein 451 Disintegrin.|Extracellular (Potential). proteolysis integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding ovary(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 8 Renal(175;0.00488) Medulloblastoma(196;0.0359)|all_neural(177;0.14) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CCGCCCCCGGCCTCAGGGTAC 0.627 NA 6 15 3.59834e-05 4.57629e-05 0.001168 1 0 ADRA1B 147 broad.mit.edu 37 5 159344430 159344430 + Missense_Mutation SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr5:159344430C>G uc003lxt.1 + 1 691 c.518C>G c.(517-519)TCC>TGC p.S173C NM_000679 NP_000670 P35368 ADA1B_HUMAN alpha-1B-adrenergic receptor 173 Helical; Name=4; (By similarity). cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade integral to plasma membrane alpha1-adrenergic receptor activity lung(1) 1 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656) TGGGTCTTGTCCACCGTCATC 0.607 NA 17 27 0 0 0.004007 0 0 RASGEF1C 255426 broad.mit.edu 37 5 179564598 179564598 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr5:179564598G>T uc003mlq.2 - 2 589 c.292C>A c.(292-294)CTG>ATG p.L98M RASGEF1C_uc003mlr.2_Missense_Mutation_p.L98M|RASGEF1C_uc003mlp.3_5'Flank NM_175062 NP_778232 Q8N431 RGF1C_HUMAN RasGEF domain family, member 1C 98 N-terminal Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity ovary(1) 1 all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ACCTTGTCCAGCACCGGCTTG 0.592 NA 8 7 2.17888e-05 2.81911e-05 0.006214 1 0 CDYL 9425 broad.mit.edu 37 6 4943946 4943946 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr6:4943946G>T uc003mwi.2 + 7 1581 c.1450G>T c.(1450-1452)GGC>TGC p.G484C CDYL_uc003mwj.2_Missense_Mutation_p.G430C|CDYL_uc003mwk.2_Missense_Mutation_p.G195C|CDYL_uc011dhx.1_Missense_Mutation_p.G298C|CDYL_uc011dhy.1_Missense_Mutation_p.G298C NM_001143971 NP_001137443 Q9Y232 CDYL1_HUMAN chromodomain protein, Y chromosome-like isoform 484 regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus histone acetyltransferase activity 0 Ovarian(93;0.11) all_hematologic(90;0.0901)|Lung NSC(90;0.244) OV - Ovarian serous cystadenocarcinoma(45;0.182) GAGTCCAGATGGCTGTTCTAC 0.408 NA 37 135 5.04308e-16 9.18976e-16 0.00623 1 0 F13A1 2162 broad.mit.edu 37 6 6167690 6167690 + Splice_Site SNP C C T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr6:6167690C>T uc003mwv.2 - 13 2031 c.1908_splice c.e13+1 p.K636_splice F13A1_uc011dib.1_Splice_Site_p.K573_splice NM_000129 NP_000120 P00488 F13A_HUMAN coagulation factor XIII A1 subunit precursor peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1) 6 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) CTAAGACTGACCTTGATGATG 0.398 NA 11 57 0 0 0.004007 0 0 GCNT2 2651 broad.mit.edu 37 6 10529193 10529193 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr6:10529193G>T uc010joo.2 + 3 600 c.49G>T c.(49-51)GCC>TCC p.A17S GCNT2_uc010jol.2_Intron|GCNT2_uc010jom.2_Intron|GCNT2_uc010jop.2_Intron|GCNT2_uc003mza.2_Intron|GCNT2_uc003mzc.3_Missense_Mutation_p.A16S|GCNT2_uc010jon.2_Missense_Mutation_p.A16S NM_145649 NP_663624 Q8N0V5 GNT2A_HUMAN glucosaminyl (N-acetyl) transferase 2, 17 Helical; Signal-anchor for type II membrane protein; (Potential). Golgi membrane|integral to membrane N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity ovary(2) 2 Ovarian(93;0.107)|Breast(50;0.148) all_hematologic(90;0.107) KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119) TCTTATCTCTGCCCTGATTTT 0.418 NA 21 88 1.64113e-05 2.14193e-05 0.001523 1 0 JARID2 3720 broad.mit.edu 37 6 15487586 15487586 + Missense_Mutation SNP A A T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr6:15487586A>T uc003nbj.2 + 6 963 c.719A>T c.(718-720)AAA>ATA p.K240I JARID2_uc011diu.1_Missense_Mutation_p.K104I|JARID2_uc011div.1_Missense_Mutation_p.K68I|JARID2_uc011diw.1_Missense_Mutation_p.K202I NM_004973 NP_004964 Q92833 JARD2_HUMAN jumonji, AT rich interactive domain 2 protein 240 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) CCTGTTCAAAAACACAAAAGC 0.532 NA 18 52 0 0 0.001523 0 0 KIF13A 63971 broad.mit.edu 37 6 17837114 17837114 + Missense_Mutation SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr6:17837114C>G uc003ncg.3 - 11 1255 c.1150G>C c.(1150-1152)GCA>CCA p.A384P KIF13A_uc003ncf.2_Missense_Mutation_p.A384P|KIF13A_uc003nch.3_Missense_Mutation_p.A384P|KIF13A_uc003nci.3_Missense_Mutation_p.A384P|KIF13A_uc003ncj.2_Missense_Mutation_p.A60P NM_022113 NP_071396 Q9H1H9 KI13A_HUMAN kinesin family member 13A isoform a 384 Potential. cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding large_intestine(2)|ovary(2) 4 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) TTTACCTCTGCCTGAGAGAGC 0.507 NA 57 161 0 0 0.00361 0 0 SLC17A2 10246 broad.mit.edu 37 6 25921632 25921632 + Silent SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr6:25921632C>A uc011dkb.1 - 3 332 c.249G>T c.(247-249)GTG>GTT p.V83V SLC17A2_uc011dkc.1_Silent_p.V83V|SLC17A2_uc003nfl.2_Silent_p.V83V O00624 NPT3_HUMAN SubName: Full=Solute carrier family 17 (Sodium phosphate), member 2, isoform CRA_b; SubName: Full=Putative uncharacterized protein SLC17A2; 83 phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity ovary(1) 1 TCCATTGATACACAGAGGCCT 0.413 NA 6 26 3.59834e-05 4.57629e-05 0.001168 1 0 HIST1H3B 8358 broad.mit.edu 37 6 26031973 26031973 + Missense_Mutation SNP C C T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr6:26031973C>T uc003nfs.1 - 1 316 c.316G>A c.(316-318)GAG>AAG p.E106K NM_003537 NP_003528 P68431 H31_HUMAN histone cluster 1, H3b 106 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding ovary(2) 2 TTTGTGTCCTCAAAGAGCCCT 0.542 NA 21 51 0 0 0.001882 0 0 HIST1H2AB 8335 broad.mit.edu 37 6 26033604 26033604 + Missense_Mutation SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr6:26033604C>G uc003nft.1 - 1 193 c.193G>C c.(193-195)GAG>CAG p.E65Q HIST1H3B_uc003nfs.1_5'Flank NM_003513 NP_003504 P04908 H2A1B_HUMAN histone cluster 1, H2ab 65 nucleosome assembly nucleosome|nucleus DNA binding 0 CCCGCCAGCTCCAGGATCTCG 0.637 NA 4 70 0 0 0.001168 0 0 HIST1H3E 8353 broad.mit.edu 37 6 26225539 26225539 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr6:26225539C>A uc003nhb.2 + 2 517 c.157C>A c.(157-159)CGT>AGT p.R53S HIST1H3E_uc003nhc.3_Missense_Mutation_p.R53S NM_021018 NP_066298 P68431 H31_HUMAN histone cluster 1, H3f 53 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding 0 all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351) GCGCGAGATCCGTCGCTACCA 0.627 NA 11 45 7.03913e-09 1.07427e-08 0.001368 1 0 HIST1H4F 8361 broad.mit.edu 37 6 26240950 26240950 + Nonsense_Mutation SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr6:26240950C>G uc003nhe.1 + 1 297 c.297C>G c.(295-297)TAC>TAG p.Y99* NM_003540 NP_003531 P62805 H4_HUMAN histone cluster 1, H4f 99 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding 0 all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167) GCACTCTGTACGGCTTTGGTG 0.557 NA 4 42 0 0 0.000248 0 0 HIST1H1B 3009 broad.mit.edu 37 6 27835138 27835138 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr6:27835138C>A uc003njx.2 - 1 222 c.170G>T c.(169-171)CGC>CTC p.R57L NM_005322 NP_005313 P16401 H15_HUMAN histone cluster 1, H1b 57 H15. nucleosome assembly nucleosome|nucleus DNA binding large_intestine(2)|lung(1) 3 AAGGCCATTGCGCTCCTTAGA 0.597 NA 25 94 6.32553e-13 1.08773e-12 0.004656 1 0 ZNF192 7745 broad.mit.edu 37 6 28120089 28120089 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr6:28120089G>T uc003nkn.1 + 5 886 c.702G>T c.(700-702)TGG>TGT p.W234C ZNF192_uc010jqx.1_Missense_Mutation_p.W234C|ZNF192_uc010jqy.1_Missense_Mutation_p.W47C|ZNF192_uc011dkz.1_Missense_Mutation_p.W47C NM_006298 NP_006289 Q15776 ZN192_HUMAN zinc finger protein 192 234 KRAB. viral reproduction cytoplasm|nucleolus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 GAGAGGAGTGGCTTCTTGATC 0.453 NA 22 98 1.10513e-12 1.89069e-12 0.002299 1 0 ZNF187 7741 broad.mit.edu 37 6 28244355 28244355 + Nonsense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr6:28244355G>T uc011dld.1 + 5 1189 c.919G>T c.(919-921)GAG>TAG p.E307* ZNF187_uc011dlc.1_Nonsense_Mutation_p.E308*|ZNF187_uc003nku.3_Nonsense_Mutation_p.E173*|ZNF187_uc003nkw.3_Nonsense_Mutation_p.E154*|ZNF187_uc011dle.1_Nonsense_Mutation_p.E154*|ZNF187_uc011dlf.1_Nonsense_Mutation_p.E99*|ZNF187_uc011dlg.1_Nonsense_Mutation_p.E154* NM_001111039 NP_001104509 Q16670 ZN187_HUMAN zinc finger protein 187 isoform b 307 viral reproduction nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 CCATCTTGGTGAGAAGCCTTA 0.443 NA 7 19 8.12818e-05 0.000101263 0.001984 1 0 ZNF323 64288 broad.mit.edu 37 6 28294030 28294030 + Silent SNP G G C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr6:28294030G>C uc003nla.2 - 4 1534 c.1134C>G c.(1132-1134)CCC>CCG p.P378P ZNF323_uc003nld.2_Silent_p.P378P|ZNF323_uc010jra.2_Silent_p.P378P|ZNF323_uc003nlb.2_Silent_p.P219P|ZNF323_uc010jrb.2_Silent_p.P219P|ZNF323_uc003nlc.2_Silent_p.P378P NM_001135216 NP_001128688 Q96LW9 ZN323_HUMAN zinc finger protein 323 378 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 TGCACTGATAGGGTTTCTCAC 0.468 Colon(115;1052 1587 16954 47314 53012) NA 10 245 0 0 0.008291 0 0 GABBR1 2550 broad.mit.edu 37 6 29591181 29591181 + Silent SNP T T C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr6:29591181T>C uc003nmt.3 - 8 1200 c.864A>G c.(862-864)CCA>CCG p.P288P GABBR1_uc003nmp.3_Silent_p.P171P|GABBR1_uc003nms.3_Silent_p.P171P|GABBR1_uc003nmu.3_Silent_p.P226P|GABBR1_uc011dlr.1_Silent_p.P111P|GABBR1_uc011dls.1_Silent_p.P288P NM_001470 NP_001461 Q9UBS5 GABR1_HUMAN gamma-aminobutyric acid (GABA) B receptor 1 288 Extracellular (Potential). gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity ovary(5)|liver(1)|skin(1) 7 Baclofen(DB00181)|Progabide(DB00837) GTGTGGCTGATGGGTGCGTTC 0.562 NA 16 26 0 0 0.004007 0 0 ZFP57 346171 broad.mit.edu 37 6 29641187 29641187 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr6:29641187G>T uc011dlw.1 - 4 852 c.701C>A c.(700-702)ACG>AAG p.T234K ZFP57_uc003nnl.3_Missense_Mutation_p.T214K NM_001109809 NP_001103279 Q9NU63 ZFP57_HUMAN zinc finger protein 57 homolog 150 C2H2-type 3. DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent DNA binding|zinc ion binding ovary(3)|skin(2) 5 GTCACAGAGCGTGCAACAGAA 0.562 NA 15 59 2.32078e-09 3.60742e-09 0.003163 1 0 TRIM40 135644 broad.mit.edu 37 6 30104992 30104992 + Missense_Mutation SNP G G C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr6:30104992G>C uc003npk.2 + 2 565 c.179G>C c.(178-180)TGT>TCT p.C60S TRIM40_uc003npl.1_RNA|TRIM40_uc003npm.2_Missense_Mutation_p.C60S NM_138700 NP_619645 Q6P9F5 TRI40_HUMAN tripartite motif-containing 40 60 intracellular zinc ion binding ovary(1) 1 CGGAAGCCCTGTTCTGAGGAG 0.572 NA 11 34 0 0 0.008291 0 0 MUC21 394263 broad.mit.edu 37 6 30955887 30955887 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr6:30955887G>T uc003nsh.2 + 3 1868 c.1617G>T c.(1615-1617)AGG>AGT p.R539S MUC21_uc003nsi.1_RNA NM_001010909 NP_001010909 Q5SSG8 MUC21_HUMAN mucin 21 precursor 539 Cytoplasmic (Potential).|Cytoplasmic tail. integral to membrane|plasma membrane ovary(1)|skin(1) 2 CCCCCCACAGGCCCAGGTGGA 0.597 NA 11 28 1.58986e-06 2.20122e-06 0.008291 1 0 CDSN 1041 broad.mit.edu 37 6 31083934 31083934 + Nonsense_Mutation SNP A A T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr6:31083934A>T uc003nsm.1 - 2 1485 c.1458T>A c.(1456-1458)TGT>TGA p.C486* PSORS1C1_uc003nsl.1_Intron|PSORS1C1_uc010jsj.1_Intron NM_001264 NP_001255 Q15517 CDSN_HUMAN corneodesmosin precursor 486 cell-cell adhesion|keratinocyte differentiation|skin morphogenesis cornified envelope|desmosome|extracellular region protein homodimerization activity ovary(1)|pancreas(1) 2 TGCTGGAGCCACAGGGCTTGG 0.617 NA 11 41 0 0 0.001368 0 0 BAT5 7920 broad.mit.edu 37 6 31655057 31655057 + Missense_Mutation SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr6:31655057G>A uc003nvy.1 - 20 1639 c.1609C>T c.(1609-1611)CAC>TAC p.H537Y BAT5_uc003nvx.1_Missense_Mutation_p.H318Y|BAT5_uc011dny.1_Missense_Mutation_p.H504Y|BAT5_uc003nvz.1_Missense_Mutation_p.H318Y|BAT5_uc011dnz.1_Missense_Mutation_p.H318Y NM_021160 NP_066983 O95870 ABHGA_HUMAN HLA-B associated transcript 5 537 integral to membrane hydrolase activity|protein binding 0 TCAAAGTTGTGCAGATGCTTC 0.602 NA 6 22 0 0 0.001984 0 0 NOTCH4 4855 broad.mit.edu 37 6 32180910 32180910 + Splice_Site SNP A A T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr6:32180910A>T uc003obb.2 - 15 2577 c.2438_splice c.e15+1 p.S813_splice NOTCH4_uc011dpu.1_Splice_Site|NOTCH4_uc011dpv.1_Splice_Site NM_004557 NP_004548 Q99466 NOTC4_HUMAN notch4 preproprotein cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1) 22 GGCCCTGCTCACCTGTCTGCA 0.647 NA 5 37 0 0 0.000602 0 0 C6orf10 10665 broad.mit.edu 37 6 32323447 32323447 + Splice_Site SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr6:32323447C>G uc011dpy.1 - 7 391 c.218_splice c.e7-1 p.E73_splice C6orf10_uc011dpz.1_Splice_Site_p.E73_splice NM_006781 NP_006772 Q5SRN2 CF010_HUMAN chromosome 6 open reading frame 10 integral to membrane skin(1) 1 TTGGATCTCTCTGAAAACATA 0.308 NA 3 61 0 0 0.000248 0 0 BTNL2 56244 broad.mit.edu 37 6 32362737 32362737 + Missense_Mutation SNP A A G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr6:32362737A>G uc003obg.1 - 6 1144 c.1144T>C c.(1144-1146)TCT>CCT p.S382P BTNL2_uc010jty.1_Missense_Mutation_p.S105P|BTNL2_uc010jtz.1_RNA|BTNL2_uc010jua.1_Missense_Mutation_p.S172P NM_019602 NP_062548 Q9UIR0 BTNL2_HUMAN butyrophilin-like 2 382 Extracellular (Potential). integral to membrane central_nervous_system(1) 1 CCATCTGAAGAGCACATCGGC 0.577 NA 33 112 0 0 0.002096 0 0 PIM1 5292 broad.mit.edu 37 6 37139014 37139014 + Silent SNP G G C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr6:37139014G>C uc003onk.2 + 4 784 c.354G>C c.(352-354)CTG>CTC p.L118L PIM1_uc011dtw.1_5'Flank NM_002648 NP_002639 P11309 PIM1_HUMAN non-specific serine/threonine protein kinase 209 Protein kinase. cell cycle|cell proliferation|multicellular organismal development|negative regulation of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|protein autophosphorylation cytoplasm|nucleus|plasma membrane ATP binding|manganese ion binding|protein binding|protein binding|protein serine/threonine kinase activity|transcription factor binding large_intestine(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(102;0.241) Adenosine monophosphate(DB00131) GTTTCGTCCTGATCCTGGAGA 0.607 NA T BCL6 NHL 7 125 0 0 0.001984 0 0 KCNK17 89822 broad.mit.edu 37 6 39267446 39267446 + Silent SNP C C T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr6:39267446C>T uc003ooo.2 - 5 896 c.756G>A c.(754-756)GGG>GGA p.G252G KCNK17_uc003oop.2_3'UTR NM_031460 NP_113648 Q96T54 KCNKH_HUMAN potassium channel, subfamily K, member 17 252 Helical; (Potential). integral to membrane potassium channel activity|voltage-gated ion channel activity skin(2) 2 GCCATGCCATCCCAAAGAGGA 0.562 NA 19 92 0 0 0.001216 0 0 TREML2 79865 broad.mit.edu 37 6 41162309 41162309 + Silent SNP C C T rs143539514 TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr6:41162309C>T uc010jxm.1 - 3 818 c.639G>A c.(637-639)GCG>GCA p.A213A NM_024807 NP_079083 Q5T2D2 TRML2_HUMAN triggering receptor expressed on myeloid 213 Extracellular (Potential). T cell activation cell surface|integral to membrane|plasma membrane protein binding|receptor activity ovary(1)|central_nervous_system(1) 2 Ovarian(28;0.0418)|Colorectal(47;0.196) TGCTGGGAGACGCGGTCACTG 0.627 NA 5 30 0 0 0.000602 0 0 FOXP4 116113 broad.mit.edu 37 6 41533600 41533600 + Silent SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr6:41533600C>A uc003oql.2 + 2 560 c.102C>A c.(100-102)GCC>GCA p.A34A FOXP4_uc003oqm.2_Silent_p.A34A|FOXP4_uc003oqn.2_Silent_p.A34A NM_001012426 NP_001012426 Q8IVH2 FOXP4_HUMAN forkhead box P4 isoform 1 34 embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding breast(1) 1 Ovarian(28;0.0327)|Colorectal(47;0.196) GCGGCGGGGCCACAGGGACAA 0.622 NA 25 69 4.02929e-09 6.24144e-09 0.002096 1 0 SLC22A7 10864 broad.mit.edu 37 6 43271888 43271888 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr6:43271888G>T uc003out.2 + 10 1597 c.1498G>T c.(1498-1500)GGG>TGG p.G500W SLC22A7_uc003ous.2_Missense_Mutation_p.G498W NM_153320 NP_696961 Q9Y694 S22A7_HUMAN solute carrier family 22 member 7 isoform b 500 Helical; (Potential). basolateral plasma membrane|integral to plasma membrane|membrane fraction anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity 0 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305) TACTTATGGGGGGATCGCCCT 0.662 NA 32 87 8.16721e-17 1.50874e-16 0.002096 1 0 CAPN11 11131 broad.mit.edu 37 6 44144372 44144372 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr6:44144372G>T uc003owt.1 + 10 1094 c.1056G>T c.(1054-1056)AAG>AAT p.K352N CAPN11_uc011dvn.1_Missense_Mutation_p.K6N NM_007058 NP_008989 Q9UMQ6 CAN11_HUMAN calpain 11 352 Calpain catalytic. proteolysis acrosomal vesicle calcium ion binding|calcium-dependent cysteine-type endopeptidase activity ovary(1)|breast(1) 2 all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) TGCTGCACAAGACGGAGGACG 0.627 NA 11 45 3.07112e-06 4.16617e-06 0.000978 1 0 TCTE1 202500 broad.mit.edu 37 6 44254012 44254012 + Missense_Mutation SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr6:44254012C>G uc003oxi.2 - 3 691 c.535G>C c.(535-537)GAC>CAC p.D179H SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron NM_182539 NP_872345 Q5JU00 TCTE1_HUMAN t-complex-associated testis expressed 1 179 ovary(2)|skin(2) 4 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) GGCAGCAGGTCGAGGATCACC 0.647 NA 5 30 0 0 0.000602 0 0 GPR111 222611 broad.mit.edu 37 6 47646726 47646726 + Silent SNP C C T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr6:47646726C>T uc010jzj.1 + 4 328 c.327C>T c.(325-327)TGC>TGT p.C109C GPR111_uc010jzk.1_Silent_p.C41C|GPR111_uc003oyy.2_RNA NM_153839 NP_722581 Q8IZF7 GP111_HUMAN G-protein coupled receptor 111 109 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity skin(1) 1 CAGGTGTATGCGATGGTGTCT 0.517 NA 12 55 0 0 0.001855 0 0 C6orf138 442213 broad.mit.edu 37 6 47847488 47847488 + Silent SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr6:47847488C>A uc011dwm.1 - 3 1126 c.1041G>T c.(1039-1041)GTG>GTT p.V347V C6orf138_uc011dwn.1_Silent_p.V111V NM_001013732 NP_001013754 Q6ZW05 CF138_HUMAN hypothetical protein LOC442213 364 SSD. integral to membrane hedgehog receptor activity central_nervous_system(1) 1 AGAAGACCTTCACAGCCTCTA 0.458 NA 6 37 2.0095e-06 2.76512e-06 0.001984 1 0 DEFB110 245913 broad.mit.edu 37 6 49986727 49986727 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr6:49986727C>A uc003pac.2 - 2 213 c.167G>T c.(166-168)TGC>TTC p.C56F DEFB110_uc011dwr.1_Intron NM_001037497 NP_001032586 Q30KQ9 DB110_HUMAN beta-defensin 110 isoform a 56 defense response to bacterium extracellular region ovary(1) 1 Lung NSC(77;0.042) AGGTCTTATGCAGTAAGCAAT 0.408 NA 10 45 1.76689e-08 2.64247e-08 0.006214 1 0 TFAP2D 83741 broad.mit.edu 37 6 50686838 50686838 + Missense_Mutation SNP T T A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr6:50686838T>A uc003paf.2 + 3 1085 c.573T>A c.(571-573)AAT>AAA p.N191K TFAP2D_uc011dwt.1_RNA NM_172238 NP_758438 Q7Z6R9 AP2D_HUMAN transcription factor AP-2 beta-like 1 191 DNA binding|sequence-specific DNA binding transcription factor activity ovary(6)|breast(1) 7 Lung NSC(77;0.0334) TTGTTCTCAATGGCCAAGGTG 0.388 NA 10 17 0 0 0.001855 0 0 TFAP2B 7021 broad.mit.edu 37 6 50791195 50791195 + Missense_Mutation SNP A A T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr6:50791195A>T uc003pag.2 + 2 323 c.157A>T c.(157-159)AGC>TGC p.S53C NM_003221 NP_003212 Q92481 AP2B_HUMAN transcription factor AP-2 beta 53 Gln/Pro-rich (transactivation domain). nervous system development|positive regulation of transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity 0 Lung NSC(77;0.156) ACCCTACTCGAGCGCCCCGCC 0.652 Pancreas(116;1373 2332 5475 10752) NA 5 19 0 0 0.000602 0 0 PKHD1 5314 broad.mit.edu 37 6 51777291 51777292 + Missense_Mutation DNP CC CC AA TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr6:51777291_51777292CC>AA uc003pah.1 - 38 6480_6481 c.6204_6205GG>TT c.(6202-6207)GTGGAC>GTTTAC p.D2069Y PKHD1_uc010jzn.1_Missense_Mutation_p.D94Y|PKHD1_uc003pai.2_Missense_Mutation_p.D2069Y NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 2069 Extracellular (Potential). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) GGGTTCCAGTCCACAGCATCTT 0.49 NA 22 102 0 0 0.004672 0 0 PKHD1 5314 broad.mit.edu 37 6 51935236 51935236 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr6:51935236C>A uc003pah.1 - 10 951 c.675G>T c.(673-675)CAG>CAT p.Q225H PKHD1_uc003pai.2_Missense_Mutation_p.Q225H NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 225 IPT/TIG 2.|Extracellular (Potential). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) AGCTAACATTCTGGGAGCCTG 0.388 NA 15 27 4.7546e-09 7.32274e-09 0.004007 1 0 C6orf142 90523 broad.mit.edu 37 6 53986316 53986316 + Silent SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr6:53986316C>A uc003pcg.3 + 2 248 c.135C>A c.(133-135)ACC>ACA p.T45T C6orf142_uc003pcf.2_Silent_p.T45T|C6orf142_uc003pch.3_Intron|C6orf142_uc011dwz.1_Intron|C6orf142_uc011dxa.1_Silent_p.T56T NM_138569 NP_612636 Q5VWP3 MLIP_HUMAN hypothetical protein LOC90523 45 nuclear envelope|PML body protein binding 0 Lung NSC(77;0.0317) GACTACCAACCCATACTCAGT 0.393 NA 27 82 5.45727e-16 9.89084e-16 0.008361 1 0 FAM83B 222584 broad.mit.edu 37 6 54806636 54806636 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr6:54806636C>A uc003pck.2 + 5 2983 c.2867C>A c.(2866-2868)ACC>AAC p.T956N NM_001010872 NP_001010872 Q5T0W9 FA83B_HUMAN hypothetical protein LOC222584 956 ovary(6) 6 Lung NSC(77;0.0178)|Renal(3;0.122) ATGCCAAATACCAGTATAAAT 0.413 NA 17 56 9.16793e-09 1.38968e-08 0.00499 1 0 HCRTR2 3062 broad.mit.edu 37 6 55142304 55142304 + Missense_Mutation SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr6:55142304C>G uc003pcl.2 + 5 1204 c.889C>G c.(889-891)CGA>GGA p.R297G HCRTR2_uc010jzv.2_RNA NM_001526 NP_001517 O43614 OX2R_HUMAN orexin receptor 2 297 Cytoplasmic (Potential). feeding behavior integral to plasma membrane neuropeptide receptor activity ovary(2)|lung(2)|upper_aerodigestive_tract(1)|breast(1) 6 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) AAAGCAGATCCGAGCCAGAAG 0.493 NA 6 29 0 0 0.001168 0 0 DST 667 broad.mit.edu 37 6 56504830 56504830 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr6:56504830C>A uc003pdf.2 - 18 2445 c.2417G>T c.(2416-2418)GGC>GTC p.G806V DST_uc003pcz.3_Missense_Mutation_p.G628V|DST_uc011dxj.1_Missense_Mutation_p.G657V|DST_uc011dxk.1_Missense_Mutation_p.G668V|DST_uc011dxl.1_Missense_Mutation_p.G657V|DST_uc003pcy.3_Missense_Mutation_p.G302V|DST_uc003pdb.2_Missense_Mutation_p.G302V|DST_uc003pdc.3_Missense_Mutation_p.G302V|DST_uc003pdd.3_Missense_Mutation_p.G302V|DST_uc003pde.2_Missense_Mutation_p.G744V NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 628 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) CAAATCTGAGCCCCACTCAGT 0.333 NA 20 55 1.50039e-11 2.49693e-11 0.001882 1 0 EYS 346007 broad.mit.edu 37 6 66205175 66205175 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr6:66205175C>A uc011dxu.1 - 4 667 c.129G>T c.(127-129)TGG>TGT p.W43C EYS_uc003peq.2_Missense_Mutation_p.W43C|EYS_uc003per.1_Missense_Mutation_p.W43C|EYS_uc010kaj.1_RNA NM_001142800 NP_001136272 Q5T1H1 EYS_HUMAN eyes shut homolog isoform 1 43 response to stimulus|visual perception extracellular region calcium ion binding lung(4)|ovary(1)|skin(1) 6 CTGTTAGTGTCCAATTTACCA 0.408 NA 33 110 4.62619e-21 8.95241e-21 0.004289 1 0 BAI3 577 broad.mit.edu 37 6 70049390 70049390 + Silent SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr6:70049390G>T uc003pev.3 + 26 3901 c.3453G>T c.(3451-3453)CGG>CGT p.R1151R BAI3_uc010kak.2_Silent_p.R1151R|BAI3_uc011dxx.1_Silent_p.R357R|BAI3_uc003pex.1_Silent_p.R281R NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1151 Cytoplasmic (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1) 50 all_lung(197;0.212) GCATTCTTCGGAGAGAGGTGA 0.368 NA 37 116 1.60099e-16 2.94537e-16 0.004878 1 0 COL19A1 1310 broad.mit.edu 37 6 70639516 70639516 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr6:70639516C>A uc003pfc.1 + 6 707 c.590C>A c.(589-591)ACT>AAT p.T197N COL19A1_uc010kam.1_Missense_Mutation_p.T93N NM_001858 NP_001849 Q14993 COJA1_HUMAN alpha 1 type XIX collagen precursor 197 TSP N-terminal. cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging ovary(2)|breast(2) 4 AGGAGGCAGACTGATGAAAAG 0.428 NA 20 62 1.01871e-10 1.65433e-10 0.001216 1 0 SNX14 57231 broad.mit.edu 37 6 86243356 86243356 + Missense_Mutation SNP C C T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr6:86243356C>T uc003pkr.2 - 18 1964 c.1771G>A c.(1771-1773)GTG>ATG p.V591M SNX14_uc003pkp.2_Missense_Mutation_p.V454M|SNX14_uc003pkq.2_Missense_Mutation_p.V197M|SNX14_uc011dzg.1_Missense_Mutation_p.V539M|SNX14_uc003pks.2_Missense_Mutation_p.V538M|SNX14_uc003pkt.2_Missense_Mutation_p.V582M NM_153816 NP_722523 Q9Y5W7 SNX14_HUMAN sorting nexin 14 isoform a 591 PX. cell communication|protein transport integral to membrane phosphatidylinositol binding|signal transducer activity 0 all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24) BRCA - Breast invasive adenocarcinoma(108;0.0423) ATACAAAACACAGGAATTCTT 0.388 NA 11 58 0 0 0.008291 0 0 HTR1E 3354 broad.mit.edu 37 6 87726017 87726017 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr6:87726017C>A uc003pli.2 + 2 1668 c.965C>A c.(964-966)TCC>TAC p.S322Y NM_000865 NP_000856 P28566 5HT1E_HUMAN 5-hydroxytryptamine (serotonin) receptor 1E 322 Extracellular (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane protein binding|serotonin binding|serotonin receptor activity ovary(2)|skin(1) 3 all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819) BRCA - Breast invasive adenocarcinoma(108;0.055) Eletriptan(DB00216) TACACCGTGTCCTCGGAAGTG 0.473 NA 34 187 3.76114e-14 6.67266e-14 0.004289 1 0 HTR1E 3354 broad.mit.edu 37 6 87726077 87726077 + Missense_Mutation SNP T T A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr6:87726077T>A uc003pli.2 + 2 1728 c.1025T>A c.(1024-1026)CTG>CAG p.L342Q NM_000865 NP_000856 P28566 5HT1E_HUMAN 5-hydroxytryptamine (serotonin) receptor 1E 342 Helical; Name=7; (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane protein binding|serotonin binding|serotonin receptor activity ovary(2)|skin(1) 3 all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819) BRCA - Breast invasive adenocarcinoma(108;0.055) Eletriptan(DB00216) ATCAACCCTCTGCTCTATACG 0.433 NA 48 120 0 0 0.003214 0 0 GABRR1 2569 broad.mit.edu 37 6 89909117 89909117 + Missense_Mutation SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr6:89909117C>G uc003pna.2 - 4 767 c.312G>C c.(310-312)CAG>CAC p.Q104H GABRR1_uc011dzv.1_Missense_Mutation_p.Q81H NM_002042 NP_002033 P24046 GBRR1_HUMAN gamma-aminobutyric acid (GABA) receptor, rho 1 104 Extracellular (Probable). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity pancreas(1) 1 all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114) BRCA - Breast invasive adenocarcinoma(108;0.00917) Picrotoxin(DB00466) AACTCTCCACCTGCACATCCA 0.488 NA 10 38 0 0 0.001368 0 0 FHL5 9457 broad.mit.edu 37 6 97063629 97063629 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr6:97063629G>T uc003pos.1 + 7 1241 c.836G>T c.(835-837)GGA>GTA p.G279V FHL5_uc003pot.1_Missense_Mutation_p.G279V NM_020482 NP_065228 Q5TD97 FHL5_HUMAN activator of cAMP-responsive element modulator 279 LIM zinc-binding 4. nucleus zinc ion binding ovary(2) 2 all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204) BRCA - Breast invasive adenocarcinoma(108;0.0948) TGTGGCTCCGGAATGGACACT 0.468 NA 8 39 1.06961e-07 1.55129e-07 0.00308 1 0 C6orf168 84553 broad.mit.edu 37 6 99729269 99729269 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr6:99729269C>A uc003ppj.3 - 6 1284 c.1001G>T c.(1000-1002)TGG>TTG p.W334L C6orf168_uc003ppi.3_Missense_Mutation_p.W54L NM_032511 NP_115900 Q5TGI0 CF168_HUMAN hypothetical protein LOC84553 334 ovary(2)|central_nervous_system(1) 3 all_cancers(76;1.63e-06)|Acute lymphoblastic leukemia(125;5.12e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00898)|Colorectal(196;0.0699)|Lung NSC(302;0.198) BRCA - Breast invasive adenocarcinoma(108;0.073) ATCGTGGTGCCACTCTGGCCA 0.483 NA 25 81 4.59853e-10 7.31733e-10 0.005443 1 0 ASCC3 10973 broad.mit.edu 37 6 100960595 100960596 + Missense_Mutation DNP CC CC AA TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr6:100960595_100960596CC>AA uc003pqk.2 - 40 6603_6604 c.6274_6275GG>TT c.(6274-6276)GGG>TTG p.G2092L NM_006828 NP_006819 Q8N3C0 HELC1_HUMAN activating signal cointegrator 1 complex subunit 2092 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(5)|skin(1) 6 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) CTTGTGGAACCCAAAGTGGACT 0.431 NA 17 52 0 0 0.004672 0 0 ASCC3 10973 broad.mit.edu 37 6 100965956 100965956 + Silent SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr6:100965956C>G uc003pqk.2 - 38 6167 c.5838G>C c.(5836-5838)CTG>CTC p.L1946L NM_006828 NP_006819 Q8N3C0 HELC1_HUMAN activating signal cointegrator 1 complex subunit 1946 SEC63 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(5)|skin(1) 6 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) CCATCTGAATCAGGTTGGTGA 0.433 NA 20 58 0 0 0.001216 0 0 HACE1 57531 broad.mit.edu 37 6 105300216 105300216 + Missense_Mutation SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr6:105300216G>A uc003pqu.1 - 2 384 c.107C>T c.(106-108)CCA>CTA p.P36L HACE1_uc010kcy.1_5'UTR|HACE1_uc010kcz.1_Missense_Mutation_p.P36L NM_020771 NP_065822 Q8IYU2 HACE1_HUMAN HECT domain and ankyrin repeat containing, E3 36 protein ubiquitination involved in ubiquitin-dependent protein catabolic process endoplasmic reticulum ubiquitin-protein ligase activity ovary(5)|lung(2) 7 all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202) BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204) CATAACCATTGGCATTAATGT 0.343 NA 10 32 0 0 0.008291 0 0 BVES 11149 broad.mit.edu 37 6 105564715 105564715 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr6:105564715C>A uc003pqw.2 - 6 834 c.677G>T c.(676-678)AGA>ATA p.R226I BVES_uc003pqx.2_Missense_Mutation_p.R226I|BVES_uc003pqy.2_Missense_Mutation_p.R226I NM_147147 NP_671488 Q8NE79 POPD1_HUMAN blood vessel epicardial substance isoform 5 226 Cytoplasmic (Potential). epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport integral to membrane|lateral plasma membrane|tight junction structural molecule activity 0 all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238) GCATAAAAATCTGCAGTTATC 0.313 NA 8 39 0.000274275 0.000331549 0.004482 1 0 BEND3 57673 broad.mit.edu 37 6 107390010 107390010 + Silent SNP C C T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr6:107390010C>T uc003prs.2 - 5 3035 c.2385G>A c.(2383-2385)GAG>GAA p.E795E NM_001080450 NP_001073919 Q5T5X7 BEND3_HUMAN BEN domain containing 3 795 BEN 4. ovary(3) 3 AGTGCCACACCTCCTCCATCT 0.567 NA 24 76 0 0 0.00278 0 0 ZBTB24 9841 broad.mit.edu 37 6 109802996 109802996 + Missense_Mutation SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr6:109802996C>G uc003ptl.1 - 2 402 c.234G>C c.(232-234)ATG>ATC p.M78I ZBTB24_uc011ear.1_RNA|ZBTB24_uc010kds.1_Missense_Mutation_p.M78I|ZBTB24_uc010kdt.1_RNA|ZBTB24_uc003ptm.2_Missense_Mutation_p.M78I NM_014797 NP_055612 O43167 ZBT24_HUMAN zinc finger and BTB domain containing 24 isoform 78 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059) TGCCTTCCAGCATATAAATGG 0.448 NA 11 57 0 0 0.001368 0 0 FIG4 9896 broad.mit.edu 37 6 110112626 110112626 + Missense_Mutation SNP C C T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr6:110112626C>T uc003ptt.2 + 20 2443 c.2228C>T c.(2227-2229)GCC>GTC p.A743V FIG4_uc011eau.1_Missense_Mutation_p.A466V NM_014845 NP_055660 Q92562 FIG4_HUMAN Sac domain-containing inositol phosphatase 3 743 cell death endosome membrane protein binding ovary(1) 1 all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548) OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079) AAAACGGCAGCCAGCGCCCCG 0.517 NA 16 152 0 0 0.001523 0 0 ZUFSP 221302 broad.mit.edu 37 6 116956996 116956996 + Silent SNP C C T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr6:116956996C>T uc003pxf.1 - 10 1982 c.1736G>A c.(1735-1737)TGA>TAA p.*579* NM_145062 NP_659499 Q96AP4 ZUFSP_HUMAN zinc finger with UFM1-specific peptidase domain 579 intracellular zinc ion binding skin(1) 1 GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186) CTTGATTCTTCAAGGAATCTT 0.294 NA 12 67 0 0 0.001855 0 0 ROS1 6098 broad.mit.edu 37 6 117677813 117677813 + Missense_Mutation SNP T T A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr6:117677813T>A uc003pxp.1 - 25 4319 c.4120A>T c.(4120-4122)ATC>TTC p.I1374F ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron NM_002944 NP_002935 P08922 ROS_HUMAN proto-oncogene c-ros-1 protein precursor 1374 Extracellular (Potential). transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1) 25 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) GGTACTGTGATAACTCTCCAA 0.433 NA T GOPC|ROS1 glioblastoma|NSCLC 13 42 0 0 0.001855 0 0 CLVS2 134829 broad.mit.edu 37 6 123319180 123319180 + Missense_Mutation SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr6:123319180C>G uc003pzi.1 + 2 1127 c.258C>G c.(256-258)TTC>TTG p.F86L NM_001010852 NP_001010852 Q5SYC1 CLVS2_HUMAN retinaldehyde binding protein 1-like 2 86 lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 5 TGGACATGTTCAAAAGCTTTA 0.547 NA 27 84 0 0 0.007291 0 0 ENPP1 5167 broad.mit.edu 37 6 132173372 132173372 + Missense_Mutation SNP C C T rs145868241 byFrequency TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr6:132173372C>T uc011ecf.1 + 5 634 c.614C>T c.(613-615)GCA>GTA p.A205V NM_006208 NP_006199 P22413 ENPP1_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 205 Phosphodiesterase.|Extracellular (Potential). 3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process basolateral plasma membrane|cell surface|extracellular space|integral to membrane ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity upper_aerodigestive_tract(2)|ovary(2) 4 Breast(56;0.0505) GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022) Amifostine(DB01143)|Ribavirin(DB00811) CAGTGCCCAGCAGGGTAAGAT 0.294 Colon(104;336 1535 5856 11019 33782) NA 17 58 0 0 0.00499 0 0 TAAR9 134860 broad.mit.edu 37 6 132860367 132860367 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr6:132860367C>A uc011eci.1 + 2 941 c.939C>A c.(937-939)TTC>TTA p.F313L NM_175057 NP_778227 Q96RI9 TAAR9_HUMAN trace amine associated receptor 9 313 Helical; Name=7; (Potential). plasma membrane G-protein coupled receptor activity 0 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816) TTTATGCTTTCTTTTACCAAT 0.318 Colon(10;433 445 15992 45047 47213) NA 8 25 0.000157383 0.000191976 0.00308 1 0 TAAR8 83551 broad.mit.edu 37 6 132873990 132873990 + Missense_Mutation SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr6:132873990G>A uc011ecj.1 + 1 159 c.159G>A c.(157-159)ATG>ATA p.M53I NM_053278 NP_444508 Q969N4 TAAR8_HUMAN trace amine associated receptor 8 53 Cytoplasmic (Potential). plasma membrane G-protein coupled receptor activity ovary(1) 1 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792) TCTTAGTAATGACTTCTGTTC 0.448 NA 48 184 0 0 0.00361 0 0 TAAR8 83551 broad.mit.edu 37 6 132874129 132874129 + Nonsense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr6:132874129G>T uc011ecj.1 + 1 298 c.298G>T c.(298-300)GGA>TGA p.G100* NM_053278 NP_444508 Q969N4 TAAR8_HUMAN trace amine associated receptor 8 100 Extracellular (Potential). plasma membrane G-protein coupled receptor activity ovary(1) 1 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792) CTGGTATTTTGGAGCCAAATT 0.468 NA 18 138 5.01169e-05 6.31398e-05 0.00499 1 0 HIVEP2 3097 broad.mit.edu 37 6 143092296 143092296 + Missense_Mutation SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr6:143092296C>G uc003qjd.2 - 5 4323 c.3580G>C c.(3580-3582)GAG>CAG p.E1194Q NM_006734 NP_006725 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer 1194 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(2)|central_nervous_system(1) 6 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) GGAATTGTCTCTTGATGTGGA 0.433 Esophageal Squamous(107;843 1510 13293 16805 42198) NA 22 132 0 0 0.00333 0 0 HIVEP2 3097 broad.mit.edu 37 6 143093208 143093208 + Missense_Mutation SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr6:143093208C>G uc003qjd.2 - 5 3411 c.2668G>C c.(2668-2670)GAG>CAG p.E890Q NM_006734 NP_006725 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer 890 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(2)|central_nervous_system(1) 6 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) ACTCGAATCTCAGGAACCTGG 0.547 Esophageal Squamous(107;843 1510 13293 16805 42198) NA 8 56 0 0 0.006214 0 0 GRM1 2911 broad.mit.edu 37 6 146719922 146719922 + Missense_Mutation SNP G G C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr6:146719922G>C uc010khw.1 + 8 2217 c.1747G>C c.(1747-1749)GTG>CTG p.V583L GRM1_uc010khv.1_Missense_Mutation_p.V583L|GRM1_uc003qll.2_Missense_Mutation_p.V583L|GRM1_uc011edz.1_Missense_Mutation_p.V583L|GRM1_uc011eea.1_Missense_Mutation_p.V583L NM_000838 NP_000829 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 isoform alpha 583 Extracellular (Potential). synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2) 19 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) GCCCATTCCTGTGCGCTATCT 0.428 NA 43 192 0 0 0.003214 0 0 AKAP12 9590 broad.mit.edu 37 6 151673998 151673998 + Missense_Mutation SNP C C T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr6:151673998C>T uc011eep.1 + 4 4712 c.4472C>T c.(4471-4473)ACT>ATT p.T1491I AKAP12_uc003qoe.2_Missense_Mutation_p.T1491I|AKAP12_uc003qof.2_Missense_Mutation_p.T1393I|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Missense_Mutation_p.T1386I NM_005100 NP_005091 Q02952 AKA12_HUMAN A kinase (PRKA) anchor protein 12 isoform 1 1491 G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting cell cortex|cytoskeleton|plasma membrane adenylate cyclase binding|protein kinase A binding large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1) 8 Ovarian(120;0.125) BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.98e-11) GTATCTGCTACTACCAAGAAA 0.498 Melanoma(141;1616 1805 10049 24534 51979) NA 10 67 0 0 0.008291 0 0 C6orf97 80129 broad.mit.edu 37 6 151936691 151936691 + Silent SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr6:151936691G>A uc003qol.2 + 10 1913 c.1824G>A c.(1822-1824)CTG>CTA p.L608L NM_025059 NP_079335 Q8IYT3 CF097_HUMAN hypothetical protein LOC80129 608 Potential. 0 Ovarian(120;0.126) BRCA - Breast invasive adenocarcinoma(37;0.111) OV - Ovarian serous cystadenocarcinoma(155;1.48e-10) AGTCAGAACTGGATACCACAG 0.398 NA 36 93 0 0 0.005524 0 0 SYNE1 23345 broad.mit.edu 37 6 152754989 152754989 + Nonsense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr6:152754989C>A uc010kiw.2 - 34 5004 c.4402G>T c.(4402-4404)GAA>TAA p.E1468* SYNE1_uc003qot.3_Nonsense_Mutation_p.E1475*|SYNE1_uc003qou.3_Nonsense_Mutation_p.E1468*|SYNE1_uc010kjb.1_Nonsense_Mutation_p.E1451*|SYNE1_uc003qow.2_Nonsense_Mutation_p.E763* NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 1468 Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GCATTGAGTTCTTTTTCTTTC 0.373 NA HNSCC(10;0.0054) 13 50 4.3838e-07 6.19079e-07 0.001855 1 0 MYCT1 80177 broad.mit.edu 37 6 153042943 153042943 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr6:153042943C>A uc003qpd.3 + 2 271 c.263C>A c.(262-264)GCT>GAT p.A88D MYCT1_uc010kjc.1_Missense_Mutation_p.A88D|MYCT1_uc003qpc.3_Missense_Mutation_p.A88D NM_025107 NP_079383 Q8N699 MYCT1_HUMAN myc target 1 88 nucleus ovary(1) 1 Ovarian(120;0.0654) OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143) TTTATTTGGGCTGTGTTCATT 0.448 NA 22 84 1.37878e-21 2.68363e-21 0.00333 1 0 OPRM1 4988 broad.mit.edu 37 6 154412483 154412483 + Missense_Mutation SNP G G C rs77013544 TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr6:154412483G>C uc003qpr.2 + 3 1277 c.1040G>C c.(1039-1041)CGA>CCA p.R347P OPRM1_uc011efc.1_Missense_Mutation_p.R266P|OPRM1_uc011efd.1_Missense_Mutation_p.R247P|OPRM1_uc011efe.1_Missense_Mutation_p.R440P|OPRM1_uc003qpn.2_Missense_Mutation_p.R347P|OPRM1_uc003qpo.1_Missense_Mutation_p.R347P|OPRM1_uc011eff.1_Missense_Mutation_p.R347P|OPRM1_uc011efg.1_Missense_Mutation_p.R347P|OPRM1_uc011efh.1_Missense_Mutation_p.R347P|OPRM1_uc003qpq.1_Missense_Mutation_p.R347P|OPRM1_uc003qpt.1_Missense_Mutation_p.R347P|OPRM1_uc011efi.1_Missense_Mutation_p.R347P|OPRM1_uc003qpp.2_RNA|OPRM1_uc003qps.2_RNA|OPRM1_uc010kjg.2_Missense_Mutation_p.R247P|OPRM1_uc003qpu.2_Missense_Mutation_p.R247P NM_000914 NP_000905 P35372 OPRM_HUMAN opioid receptor, mu 1 isoform MOR-1 347 Cytoplasmic (Potential). behavior|negative regulation of cell proliferation|sensory perception endoplasmic reticulum|Golgi apparatus|integral to plasma membrane mu-opioid receptor activity|protein binding ovary(1) 1 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154) Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193) AACTTCAAACGATGCTTCAGA 0.463 NA 5 80 0 0 0.000602 0 0 TAGAP 117289 broad.mit.edu 37 6 159457615 159457615 + Silent SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr6:159457615G>A uc003qrz.2 - 10 1772 c.1440C>T c.(1438-1440)CCC>CCT p.P480P TAGAP_uc011eft.1_Silent_p.P417P|TAGAP_uc003qsa.2_Silent_p.P302P NM_054114 NP_473455 Q8N103 TAGAP_HUMAN T-cell activation Rho GTPase-activating protein 480 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|guanyl-nucleotide exchange factor activity ovary(1) 1 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) AATTTCTTTTGGGACTGGAAG 0.537 NA 32 172 0 0 0.002836 0 0 SLC22A2 6582 broad.mit.edu 37 6 160666574 160666574 + Silent SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr6:160666574G>A uc003qtf.2 - 6 1131 c.961C>T c.(961-963)CTG>TTG p.L321L SLC22A2_uc003qte.1_Silent_p.L321L NM_003058 NP_003049 O15244 S22A2_HUMAN solute carrier family 22 member 2 321 Cytoplasmic (Potential). body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion integral to plasma membrane|membrane fraction neurotransmitter transporter activity|organic cation transmembrane transporter activity breast(1)|skin(1) 2 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06) TCAAGTCTCAGGCGCTAAGAA 0.403 NA 6 24 0 0 0.001984 0 0 PLG 5340 broad.mit.edu 37 6 161160109 161160109 + Missense_Mutation SNP G G C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr6:161160109G>C uc003qtm.3 + 16 1950 c.1887G>C c.(1885-1887)AGG>AGC p.R629S NM_000301 NP_000292 P00747 PLMN_HUMAN plasminogen 629 Peptidase S1. extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity skin(3)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) GGTCCCCAAGGCCTTCATCCT 0.507 NA 24 89 0 0 0.003954 0 0 PLG 5340 broad.mit.edu 37 6 161160215 161160215 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr6:161160215G>T uc003qtm.3 + 16 2056 c.1993G>T c.(1993-1995)GAT>TAT p.D665Y NM_000301 NP_000292 P00747 PLMN_HUMAN plasminogen 665 Peptidase S1. Charge relay system. extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity skin(3)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) CACACGAAAAGATATTGCCTT 0.478 NA 21 78 2.52088e-20 4.85034e-20 0.00278 1 0 THBS2 7058 broad.mit.edu 37 6 169648580 169648580 + Missense_Mutation SNP C C T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr6:169648580C>T uc003qwt.2 - 4 789 c.541G>A c.(541-543)GAG>AAG p.E181K NM_003247 NP_003238 P35442 TSP2_HUMAN thrombospondin 2 precursor 181 TSP N-terminal.|Heparin-binding (Potential). 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) TGCAGGTGCTCGTAGAAGGGC 0.622 Esophageal Squamous(91;219 1934 18562 44706) NA 17 58 0 0 0.006122 0 0 SDK1 221935 broad.mit.edu 37 7 4089047 4089047 + Missense_Mutation SNP G G C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr7:4089047G>C uc003smx.2 + 18 2809 c.2670G>C c.(2668-2670)TGG>TGC p.W890C SDK1_uc010kso.2_Missense_Mutation_p.W166C NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN sidekick 1 precursor 890 Fibronectin type-III 3. cell adhesion integral to membrane large_intestine(3)|ovary(2)|skin(1) 6 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) AGTTCCTGTGGAACCCTCCGC 0.592 NA 9 33 0 0 0.008291 0 0 SLC29A4 222962 broad.mit.edu 37 7 5327577 5327577 + Missense_Mutation SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr7:5327577G>A uc003sod.2 + 2 291 c.130G>A c.(130-132)GGC>AGC p.G44S SLC29A4_uc011jwg.1_RNA|SLC29A4_uc003soc.2_Missense_Mutation_p.G44S|SLC29A4_uc003soe.2_Missense_Mutation_p.G44S NM_153247 NP_694979 Q7RTT9 S29A4_HUMAN solute carrier family 29 (nucleoside 44 Extracellular (Potential). nucleobase, nucleoside and nucleotide metabolic process apical plasma membrane|integral to membrane nucleoside transmembrane transporter activity liver(1) 1 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15) TCAGGGCCAGGGCCTTAGGGC 0.667 NA 6 30 0 0 0.00308 0 0 ACTB 60 broad.mit.edu 37 7 5567507 5567507 + Missense_Mutation SNP C C T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr7:5567507C>T uc003sos.3 - 5 1036 c.1000G>A c.(1000-1002)GAG>AAG p.E334K ACTB_uc003sor.3_Missense_Mutation_p.E212K|ACTB_uc003sot.3_Missense_Mutation_p.E334K|ACTB_uc003soq.3_Missense_Mutation_p.E212K|ACTB_uc010ksy.2_Missense_Mutation_p.E212K NM_001101 NP_001092 P60709 ACTB_HUMAN beta actin 334 'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton 0 Ovarian(82;0.0606) UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37) TACTTGCGCTCAGGAGGAGCA 0.627 NA 10 81 0 0 0.008291 0 0 PHF14 9678 broad.mit.edu 37 7 11068443 11068443 + Missense_Mutation SNP G G C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr7:11068443G>C uc003sry.1 + 7 1888 c.1453G>C c.(1453-1455)GAG>CAG p.E485Q PHF14_uc011jxi.1_Missense_Mutation_p.E200Q|PHF14_uc003srz.2_Missense_Mutation_p.E485Q|PHF14_uc011jxj.1_Missense_Mutation_p.E200Q NM_014660 NP_055475 O94880 PHF14_HUMAN PHD finger protein 14 isoform 2 485 zinc ion binding kidney(2)|skin(1) 3 UCEC - Uterine corpus endometrioid carcinoma (126;0.205) AGCGGCGGAAGAGGTAGGTTT 0.398 NA 4 54 0 0 0.001168 0 0 BZW2 28969 broad.mit.edu 37 7 16714111 16714111 + Missense_Mutation SNP C C T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr7:16714111C>T uc003stl.2 + 3 311 c.133C>T c.(133-135)CTT>TTT p.L45F BZW2_uc011jxx.1_5'UTR|BZW2_uc003stm.2_5'UTR|BZW2_uc003stj.2_Missense_Mutation_p.L45F|BZW2_uc003stk.2_5'UTR|BZW2_uc003stn.1_Missense_Mutation_p.L45F|BZW2_uc003sto.1_5'UTR|BZW2_uc003stp.2_5'UTR|BZW2_uc010kua.2_Missense_Mutation_p.L45F NM_001159767 NP_001153239 Q9Y6E2 BZW2_HUMAN basic leucine zipper and W2 domains 2 45 cell differentiation|nervous system development|RNA metabolic process protein binding ovary(2) 2 Lung NSC(10;0.0367)|all_lung(11;0.0837) UCEC - Uterine corpus endometrioid carcinoma (126;0.199) TGGTGATGACCTTGAAGCTGT 0.423 NA 22 85 0 0 0.00278 0 0 ITGB8 3696 broad.mit.edu 37 7 20441723 20441723 + Missense_Mutation SNP C C T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr7:20441723C>T uc003suu.2 + 10 2366 c.1661C>T c.(1660-1662)CCA>CTA p.P554L ITGB8_uc011jyh.1_Missense_Mutation_p.P419L NM_002214 NP_002205 P26012 ITB8_HUMAN integrin, beta 8 precursor 554 III.|Cysteine-rich tandem repeats.|Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development integrin complex protein binding|receptor activity skin(3) 3 TTTTCTTGTCCATATCACCAT 0.358 NA 8 74 0 0 0.006214 0 0 DNAH11 8701 broad.mit.edu 37 7 21723472 21723472 + Missense_Mutation SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr7:21723472G>A uc003svc.2 + 33 5583 c.5552G>A c.(5551-5553)TGC>TAC p.C1851Y NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 1851 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 CAGAAACACTGCTTTGTTAAT 0.438 NA Kartagener_syndrome 18 152 0 0 0.001216 0 0 GPNMB 10457 broad.mit.edu 37 7 23313811 23313811 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr7:23313811C>A uc003swc.2 + 11 1848 c.1687C>A c.(1687-1689)CTC>ATC p.L563I GPNMB_uc003swb.2_Missense_Mutation_p.L551I|GPNMB_uc011jyy.1_Missense_Mutation_p.L505I|GPNMB_uc011jyz.1_Missense_Mutation_p.L452I NM_001005340 NP_001005340 Q14956 GPNMB_HUMAN glycoprotein (transmembrane) nmb isoform a 563 Cytoplasmic (Potential). negative regulation of cell proliferation melanosome ovary(3)|breast(2) 5 GBM - Glioblastoma multiforme(13;0.154) GGATCCGCTACTCAAAAACCA 0.438 NA 10 82 2.17888e-05 2.81911e-05 0.006214 1 0 STK31 56164 broad.mit.edu 37 7 23808719 23808719 + Nonsense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr7:23808719G>T uc003sws.3 + 12 1589 c.1522G>T c.(1522-1524)GAG>TAG p.E508* STK31_uc003swt.3_Nonsense_Mutation_p.E485*|STK31_uc011jze.1_Nonsense_Mutation_p.E508*|STK31_uc010kuq.2_Nonsense_Mutation_p.E485* NM_031414 NP_113602 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 isoform a 508 ATP binding|nucleic acid binding|protein serine/threonine kinase activity skin(3)|lung(2)|ovary(2)|stomach(2) 9 TAAAAGAGAGGAGTTCACCAG 0.408 NA 33 58 1.71298e-08 2.5733e-08 0.003755 1 0 HOXA5 3202 broad.mit.edu 37 7 27182767 27182767 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr7:27182767G>T uc003syn.1 - 1 521 c.460C>A c.(460-462)CCT>ACT p.P154T NM_019102 NP_061975 P20719 HXA5_HUMAN homeobox A5 154 negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 CTGCTGGCAGGGGCGTCCTCC 0.706 Colon(119;75 2200 7557 42868) NA 13 65 1.5842e-08 2.38251e-08 0.001855 1 0 CHN2 1124 broad.mit.edu 37 7 29535575 29535575 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr7:29535575C>A uc003szz.2 + 8 1099 c.662C>A c.(661-663)ACG>AAG p.T221K CHN2_uc011jzs.1_Missense_Mutation_p.T296K|CHN2_uc010kva.2_Intron|CHN2_uc010kvb.2_Intron|CHN2_uc010kvc.2_Missense_Mutation_p.T186K|CHN2_uc011jzt.1_Missense_Mutation_p.T234K|CHN2_uc010kvd.2_Missense_Mutation_p.T77K|CHN2_uc011jzu.1_Missense_Mutation_p.T206K|CHN2_uc010kvg.2_Missense_Mutation_p.T85K|CHN2_uc010kvh.2_Missense_Mutation_p.T85K|CHN2_uc010kvi.2_Missense_Mutation_p.T85K|CHN2_uc010kve.2_Missense_Mutation_p.T85K|CHN2_uc003taa.2_Missense_Mutation_p.T85K|CHN2_uc010kvf.2_Missense_Mutation_p.T85K|CHN2_uc010kvj.2_Missense_Mutation_p.T40K|CHN2_uc010kvk.2_Intron|CHN2_uc010kvl.2_Intron|CHN2_uc010kvm.2_Missense_Mutation_p.T40K|CHN2_uc011jzv.1_Missense_Mutation_p.T14K NM_004067 NP_004058 P52757 CHIO_HUMAN beta chimerin isoform 2 221 Phorbol-ester/DAG-type. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|membrane GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity ovary(2) 2 CAGGTCCACACGTTCCGAGGC 0.483 Ovarian(1;44 48 13232 18918 31480) NA 12 21 0.00010058 0.000124382 0.001368 1 0 SCRN1 9805 broad.mit.edu 37 7 29980355 29980355 + Missense_Mutation SNP G G C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr7:29980355G>C uc010kvp.2 - 4 886 c.682C>G c.(682-684)CCA>GCA p.P228A SCRN1_uc011jzy.1_Missense_Mutation_p.P160A|SCRN1_uc003tak.2_Missense_Mutation_p.P228A|SCRN1_uc011jzz.1_Missense_Mutation_p.P228A|SCRN1_uc011kaa.1_Missense_Mutation_p.P248A|SCRN1_uc011jzw.1_Intron|SCRN1_uc011jzx.1_Missense_Mutation_p.P51A NM_001145515 NP_001138987 Q12765 SCRN1_HUMAN secernin 1 isoform c 228 exocytosis|proteolysis cytoplasm|nuclear membrane dipeptidase activity ovary(2) 2 TCCTCAACTGGAGAAAAGACT 0.488 NA 4 100 0 0 0.000602 0 0 SCRN1 9805 broad.mit.edu 37 7 29980412 29980412 + Missense_Mutation SNP G G C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr7:29980412G>C uc010kvp.2 - 4 829 c.625C>G c.(625-627)CAG>GAG p.Q209E SCRN1_uc011jzy.1_Missense_Mutation_p.Q141E|SCRN1_uc003tak.2_Missense_Mutation_p.Q209E|SCRN1_uc011jzz.1_Missense_Mutation_p.Q209E|SCRN1_uc011kaa.1_Missense_Mutation_p.Q229E|SCRN1_uc011jzw.1_Intron|SCRN1_uc011jzx.1_Missense_Mutation_p.Q32E NM_001145515 NP_001138987 Q12765 SCRN1_HUMAN secernin 1 isoform c 209 exocytosis|proteolysis cytoplasm|nuclear membrane dipeptidase activity ovary(2) 2 CCTTGGCTCTGAGCGTAACTC 0.527 NA 3 131 0 0 0.000602 0 0 AQP1 358 broad.mit.edu 37 7 30951831 30951831 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr7:30951831G>T uc003tbv.1 + 1 364 c.307G>T c.(307-309)GTG>TTG p.V103L AQP1_uc011kac.1_Missense_Mutation_p.V163L NM_198098 NP_932766 P29972 AQP1_HUMAN aquaporin 1 103 Helical; Name=Helix 3. ammonium transport|cell volume homeostasis|cellular hyperosmotic response|cellular response to cAMP|cellular response to copper ion|cellular response to dexamethasone stimulus|cellular response to hydrogen peroxide|cellular response to hypoxia|cellular response to mechanical stimulus|cellular response to mercury ion|cellular response to nitric oxide|cellular response to retinoic acid|cellular response to salt stress|cellular response to UV|cerebrospinal fluid secretion|cGMP biosynthetic process|establishment or maintenance of actin cytoskeleton polarity|lateral ventricle development|maintenance of symbiont-containing vacuole via substance secreted by host|negative regulation of apoptosis|odontogenesis|pancreatic juice secretion|positive regulation of angiogenesis|positive regulation of fibroblast proliferation|positive regulation of saliva secretion|renal water transport|response to drug|transepithelial water transport apical plasma membrane|basal plasma membrane|brush border membrane|cytoplasm|integral to plasma membrane|nuclear membrane|sarcolemma|symbiont-containing vacuole ammonia transmembrane transporter activity|carbon dioxide transmembrane transporter activity|glycerol transmembrane transporter activity|intracellular cGMP activated cation channel activity|nitric oxide transmembrane transporter activity|potassium channel activity|potassium ion transmembrane transporter activity|protein binding|water channel activity 0 Melanoma(862;0.16) Acetazolamide(DB00819) CGCCCAGTGCGTGGGGGCCAT 0.642 NA 22 78 3.5997e-14 6.3947e-14 0.002299 1 0 BBS9 27241 broad.mit.edu 37 7 33545098 33545098 + Silent SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr7:33545098G>A uc003tdn.1 + 20 2652 c.2139G>A c.(2137-2139)GTG>GTA p.V713V BBS9_uc003tdo.1_Silent_p.V678V|BBS9_uc003tdp.1_Silent_p.V708V|BBS9_uc003tdq.1_Silent_p.V673V|BBS9_uc010kwn.1_RNA|BBS9_uc003tdr.1_Silent_p.V237V|BBS9_uc003tds.1_Silent_p.V136V|BBS9_uc003tdt.2_RNA NM_198428 NP_940820 Q3SYG4 PTHB1_HUMAN parathyroid hormone-responsive B1 isoform 2 713 fat cell differentiation|response to stimulus|visual perception BBSome|cilium membrane|microtubule organizing center|nucleus protein binding ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 GBM - Glioblastoma multiforme(11;0.0894) CAGATGCAGTGGAGGAAAACC 0.453 NA Bardet-Biedl_syndrome 21 141 0 0 0.001882 0 0 BMPER 168667 broad.mit.edu 37 7 34118542 34118542 + Silent SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr7:34118542G>T uc011kap.1 + 12 1266 c.1152G>T c.(1150-1152)GGG>GGT p.G384G NM_133468 NP_597725 Q8N8U9 BMPER_HUMAN BMP-binding endothelial regulator precursor 384 VWFD. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space ovary(2)|central_nervous_system(1) 3 ACTTTCAGGGGACGTGTCAGT 0.572 NA 18 98 9.16793e-09 1.38968e-08 0.00499 1 0 INHBA 3624 broad.mit.edu 37 7 41739731 41739731 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr7:41739731G>T uc003thq.2 - 1 477 c.242C>A c.(241-243)GCG>GAG p.A81E LOC285954_uc003tht.3_Intron|INHBA_uc003thr.2_Missense_Mutation_p.A81E|LOC285954_uc003ths.2_Intron NM_002192 NP_002183 P08476 INHBA_HUMAN inhibin beta A precursor 81 cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway activin A complex|inhibin A complex cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity lung(5)|ovary(1) 6 CAGAAGCGCCGCCTTGGGTAC 0.527 NA TSP Lung(11;0.080) 117 315 3.3835e-51 6.8745e-51 0.00361 1 0 GLI3 2737 broad.mit.edu 37 7 42012087 42012087 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr7:42012087G>T uc011kbh.1 - 13 2043 c.1952C>A c.(1951-1953)CCA>CAA p.P651Q GLI3_uc011kbg.1_Missense_Mutation_p.P592Q NM_000168 NP_000159 P10071 GLI3_HUMAN GLI-Kruppel family member GLI3 651 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1) 19 TCTCGGGGGTGGCGGCCGAGG 0.612 NA Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome 15 83 3.52763e-06 4.77101e-06 0.00499 1 0 ADCY1 107 broad.mit.edu 37 7 45688397 45688397 + Splice_Site SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr7:45688397G>T uc003tne.3 + 5 1166 c.1148_splice c.e5+1 p.T383_splice ADCY1_uc003tnd.2_Splice_Site_p.T158_splice NM_021116 NP_066939 Q08828 ADCY1_HUMAN adenylate cyclase 1 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) ATACCATCACGTAAGTACCCC 0.587 NA 18 25 5.03518e-11 8.26681e-11 0.007413 1 0 IGFBP3 3486 broad.mit.edu 37 7 45956825 45956825 + Missense_Mutation SNP C C T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr7:45956825C>T uc003tns.2 - 2 749 c.617G>A c.(616-618)CGG>CAG p.R206Q IGFBP3_uc003tnq.2_RNA|IGFBP3_uc003tnr.2_Missense_Mutation_p.R212Q|IGFBP3_uc003tnt.2_Missense_Mutation_p.R109Q NM_000598 NP_000589 P17936 IBP3_HUMAN insulin-like growth factor binding protein 3 206 Ser/Thr-rich. negative regulation of protein phosphorylation|negative regulation of signal transduction|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of apoptosis|positive regulation of myoblast differentiation|protein phosphorylation|regulation of cell growth nucleus insulin-like growth factor I binding|metal ion binding|protein tyrosine phosphatase activator activity large_intestine(2)|lung(1) 3 Mecasermin(DB01277) TTCTGTCTCCCGCTTGGACTC 0.493 NA OREG0018049 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 97 0 0 0.001368 0 0 PKD1L1 168507 broad.mit.edu 37 7 47866973 47866973 + Missense_Mutation SNP C C T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr7:47866973C>T uc003tny.1 - 45 6829 c.6829G>A c.(6829-6831)GAG>AAG p.E2277K C7orf69_uc003toa.1_Intron|PKD1L1_uc003tob.2_Missense_Mutation_p.E4K NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN polycystin-1L1 2277 Cytoplasmic (Potential). cell-cell adhesion integral to membrane ovary(8)|upper_aerodigestive_tract(2)|breast(1) 11 GTGCGACTCTCTCTCCTCATC 0.662 NA 13 35 0 0 0.00245 0 0 ABCA13 154664 broad.mit.edu 37 7 48315431 48315431 + Silent SNP A A G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr7:48315431A>G uc003toq.2 + 17 6193 c.6168A>G c.(6166-6168)GAA>GAG p.E2056E ABCA13_uc010kyr.2_Silent_p.E1559E NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 2056 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 ACAACTTTGAAGAACTATGGC 0.338 NA 9 30 0 0 0.004482 0 0 TRIM50 135892 broad.mit.edu 37 7 72727283 72727283 + Silent SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr7:72727283G>A uc010lbd.1 - 7 1223 c.1098C>T c.(1096-1098)ATC>ATT p.I366I FKBP6_uc003twz.2_Intron|TRIM50_uc003txy.1_Silent_p.I366I|TRIM50_uc003txz.1_Silent_p.I365I NM_178125 NP_835226 Q86XT4 TRI50_HUMAN tripartite motif protein 50A 366 B30.2/SPRY. cytoplasm|intracellular membrane-bounded organelle ligase activity|zinc ion binding skin(1) 1 CTGTGCCCTTGATGACCCCCA 0.672 NA 3 8 0 0 0.004672 0 0 CLIP2 7461 broad.mit.edu 37 7 73790803 73790803 + Missense_Mutation SNP A A T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr7:73790803A>T uc003uam.2 + 10 2399 c.2072A>T c.(2071-2073)GAG>GTG p.E691V CLIP2_uc003uan.2_Missense_Mutation_p.E656V|CLIP2_uc003uao.2_Missense_Mutation_p.E85V NM_003388 NP_003379 Q9UDT6 CLIP2_HUMAN CAP-GLY domain containing linker protein 2 691 Potential. microtubule associated complex skin(3) 3 AAGCTGCAGGAGGCCCAGGAG 0.672 NA 5 18 0 0 0.000602 0 0 GTF2I 2969 broad.mit.edu 37 7 74114663 74114663 + Missense_Mutation SNP C C T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr7:74114663C>T uc003uau.2 + 5 830 c.460C>T c.(460-462)CCG>TCG p.P154S GTF2I_uc003uat.2_Missense_Mutation_p.P154S|GTF2I_uc003uav.2_Missense_Mutation_p.P154S|GTF2I_uc003uaw.2_Missense_Mutation_p.P154S|GTF2I_uc003uay.2_Missense_Mutation_p.P154S|GTF2I_uc003uax.2_Missense_Mutation_p.P154S|uc003uaz.2_RNA NM_032999 NP_127492 P78347 GTF2I_HUMAN general transcription factor IIi isoform 1 154 GTF2I-like 1. negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity 0 GCAGGGGCTTCCGGAAGGTGT 0.483 NA 9 162 0 0 0.000978 0 0 HGF 3082 broad.mit.edu 37 7 81381508 81381508 + Missense_Mutation SNP C C T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr7:81381508C>T uc003uhl.2 - 5 718 c.553G>A c.(553-555)GGG>AGG p.G185R HGF_uc003uhm.2_Missense_Mutation_p.G180R|HGF_uc003uhn.1_Missense_Mutation_p.G185R|HGF_uc003uho.1_Missense_Mutation_p.G180R|HGF_uc003uhp.2_Missense_Mutation_p.G185R NM_000601 NP_000592 P14210 HGF_HUMAN hepatocyte growth factor isoform 1 185 Kringle 1. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity ovary(2)|central_nervous_system(2) 4 CAGGGTCCCCCTTCTTCCCCT 0.448 NA 18 55 0 0 0.001216 0 0 CACNA2D1 781 broad.mit.edu 37 7 81593551 81593551 + Missense_Mutation SNP T T C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr7:81593551T>C uc003uhr.1 - 33 2955 c.2699A>G c.(2698-2700)CAA>CGA p.Q900R CACNA2D1_uc011kgy.1_Missense_Mutation_p.Q112R NM_000722 NP_000713 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 912 Extracellular (Potential). voltage-gated calcium channel complex metal ion binding ovary(5)|pancreas(1) 6 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) TCCTGCTCCTTGTTTTGGTGC 0.423 NA 4 103 0 0 0.000248 0 0 PCLO 27445 broad.mit.edu 37 7 82544135 82544136 + Missense_Mutation DNP CC CC AA TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr7:82544135_82544136CC>AA uc003uhx.2 - 7 13455_13456 c.13166_13167GG>TT c.(13165-13167)AGG>ATT p.R4389I PCLO_uc003uhv.2_Missense_Mutation_p.R4389I|PCLO_uc010lec.2_Missense_Mutation_p.R1354I NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 4320 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 CAAACTGATCCCTGGTGTCTGC 0.525 NA 9 29 0 0 0.004672 0 0 PCLO 27445 broad.mit.edu 37 7 82585859 82585859 + Missense_Mutation SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr7:82585859C>G uc003uhx.2 - 5 4699 c.4410G>C c.(4408-4410)GAG>GAC p.E1470D PCLO_uc003uhv.2_Missense_Mutation_p.E1470D NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 1401 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 CTTCTTGACTCTCTTTGATCT 0.368 NA 11 100 0 0 0.001368 0 0 SAMD9 54809 broad.mit.edu 37 7 92731170 92731170 + Missense_Mutation SNP T T A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr7:92731170T>A uc003umf.2 - 3 4497 c.4241A>T c.(4240-4242)CAG>CTG p.Q1414L SAMD9_uc003umg.2_Missense_Mutation_p.Q1414L NM_017654 NP_060124 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 1414 cytoplasm ovary(3)|skin(2)|breast(1)|central_nervous_system(1) 7 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) TTCTCGAAGCTGATCTTTTAG 0.378 NA 26 102 0 0 0.005443 0 0 SAMD9 54809 broad.mit.edu 37 7 92734837 92734837 + Missense_Mutation SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr7:92734837C>G uc003umf.2 - 3 830 c.574G>C c.(574-576)GAT>CAT p.D192H SAMD9_uc003umg.2_Missense_Mutation_p.D192H NM_017654 NP_060124 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 192 cytoplasm ovary(3)|skin(2)|breast(1)|central_nervous_system(1) 7 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) TGTATCGGATCAATGAGATTG 0.393 NA 21 87 0 0 0.001523 0 0 COL1A2 1278 broad.mit.edu 37 7 94049556 94049556 + Silent SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr7:94049556G>T uc003ung.1 + 35 2562 c.2091G>T c.(2089-2091)GGG>GGT p.G697G COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_Intron NM_000089 NP_000080 P08123 CO1A2_HUMAN alpha 2 type I collagen precursor 697 Missing (in OI2A). axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1) 9 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) GCGAAGCTGGGGctgctggtc 0.398 NA HNSCC(75;0.22) 33 86 1.414e-09 2.20814e-09 0.003755 1 0 TAC1 6863 broad.mit.edu 37 7 97361970 97361970 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr7:97361970C>A uc003uop.3 + 2 292 c.46C>A c.(46-48)CAG>AAG p.Q16K TAC1_uc003uoq.3_Missense_Mutation_p.Q16K|TAC1_uc003uor.3_Missense_Mutation_p.Q16K|TAC1_uc003uos.3_Missense_Mutation_p.Q16K NM_003182 NP_003173 P20366 TKN1_HUMAN tachykinin 1 isoform beta precursor 16 detection of abiotic stimulus|elevation of cytosolic calcium ion concentration|insemination|neuropeptide signaling pathway|synaptic transmission|tachykinin receptor signaling pathway extracellular space 0 all_cancers(62;3.95e-09)|all_epithelial(64;1.1e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0358)|all_lung(186;0.0384) Bacitracin(DB00626) TGTCTCCACTCAGCTGTTTGC 0.488 NA 32 107 2.85442e-18 5.3841e-18 0.002096 1 0 LMTK2 22853 broad.mit.edu 37 7 97780744 97780744 + Missense_Mutation SNP A A T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr7:97780744A>T uc003upd.1 + 4 720 c.427A>T c.(427-429)ATT>TTT p.I143F NM_014916 NP_055731 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 precursor 143 ATP (By similarity).|Protein kinase. early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1) 16 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) CATACAGGAAATTGGAAATGG 0.338 NA 17 40 0 0 0.007413 0 0 TRRAP 8295 broad.mit.edu 37 7 98546278 98546278 + Silent SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr7:98546278G>A uc003upp.2 + 34 4946 c.4737G>A c.(4735-4737)CTG>CTA p.L1579L TRRAP_uc011kis.1_Silent_p.L1561L|TRRAP_uc003upr.2_Silent_p.L1278L NM_003496 NP_003487 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated 1579 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1) 37 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) AAGCCACACTGAACGATCCCC 0.527 NA 8 56 0 0 0.004482 0 0 ATP5J2 9551 broad.mit.edu 37 7 99063748 99063748 + Missense_Mutation SNP T T A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr7:99063748T>A uc003uqm.2 - 1 61 c.17A>T c.(16-18)GAG>GTG p.E6V PTCD1_uc011kiw.1_Intron|ATP5J2_uc003uql.2_Intron|ATP5J2_uc003uqn.2_Intron|ATP5J2_uc003uqo.2_Missense_Mutation_p.E6V NM_004889 NP_004880 P56134 ATPK_HUMAN ATP synthase, H+ transporting, mitochondrial F0 6 ATP catabolic process|respiratory electron transport chain mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o) ovary(1) 1 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) GGCCGGACACTCACCAACTGA 0.647 NA 9 45 0 0 0.004482 0 0 AP4M1 9179 broad.mit.edu 37 7 99701314 99701314 + Missense_Mutation SNP A A T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr7:99701314A>T uc003utb.3 + 6 750 c.542A>T c.(541-543)CAG>CTG p.Q181L MCM7_uc003usv.1_5'Flank|MCM7_uc003usw.1_5'Flank|MCM7_uc003usx.1_5'Flank|AP4M1_uc011kjg.1_Missense_Mutation_p.Q135L|AP4M1_uc010lgl.1_Missense_Mutation_p.Q181L|AP4M1_uc003utc.3_Missense_Mutation_p.Q188L|AP4M1_uc010lgm.2_Missense_Mutation_p.Q53L|AP4M1_uc003utd.2_Missense_Mutation_p.Q181L|AP4M1_uc011kjh.1_Missense_Mutation_p.Q133L|AP4M1_uc003ute.3_5'UTR|AP4M1_uc003utf.3_Missense_Mutation_p.Q53L NM_004722 NP_004713 O00189 AP4M1_HUMAN adaptor-related protein complex 4, mu 1 subunit 181 MHD. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|coated pit|Golgi trans cisterna transporter activity 0 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CGCTCTGACCAGGTGAGGGAA 0.483 Pancreas(174;1182 2812 29595 49511) NA 39 110 0 0 0.004289 0 0 C7orf51 222950 broad.mit.edu 37 7 100091411 100091411 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr7:100091411G>T uc003uvd.1 + 7 2570 c.2411G>T c.(2410-2412)TGC>TTC p.C804F C7orf51_uc003uve.1_Missense_Mutation_p.C587F NM_173564 NP_775835 Q6ZVC0 CG051_HUMAN hypothetical protein FLJ37538 804 skin(1) 1 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CGAGGCCTCTGCAAGCAGGAG 0.731 NA 5 23 0.000602214 0.000715729 0.000602 1 0 ZAN 7455 broad.mit.edu 37 7 100349983 100349983 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr7:100349983C>A uc003uwj.2 + 14 2420 c.2255C>A c.(2254-2256)CCC>CAC p.P752H ZAN_uc003uwk.2_Missense_Mutation_p.P752H|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA NM_003386 NP_003377 Q9Y493 ZAN_HUMAN zonadhesin isoform 3 752 66 X heptapeptide repeats (approximate) (mucin-like domain).|Extracellular (Potential). 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) ACAGAAAAACCCACCATCTCC 0.522 NA 19 65 8.00594e-06 1.06985e-05 0.007413 1 0 SLC12A9 56996 broad.mit.edu 37 7 100458871 100458871 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr7:100458871G>T uc003uwp.2 + 10 1472 c.1330G>T c.(1330-1332)GCC>TCC p.A444S SLC12A9_uc003uwq.2_Missense_Mutation_p.A355S|SLC12A9_uc011kki.1_5'UTR|SLC12A9_uc003uwr.2_Missense_Mutation_p.A180S|SLC12A9_uc003uws.2_5'UTR|SLC12A9_uc003uwt.2_Missense_Mutation_p.A180S|SLC12A9_uc003uwv.2_5'UTR NM_020246 NP_064631 Q9BXP2 S12A9_HUMAN solute carrier family 12 (potassium/chloride 444 Cytoplasmic (Potential). integral to membrane|plasma membrane cation:chloride symporter activity 0 Lung NSC(181;0.041)|all_lung(186;0.0581) GTGGGCCTCGGCCCCCAACTT 0.642 NA 16 89 1.15088e-07 1.6584e-07 0.004007 1 0 MUC17 140453 broad.mit.edu 37 7 100685526 100685526 + Missense_Mutation SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr7:100685526C>G uc003uxp.1 + 3 10882 c.10829C>G c.(10828-10830)TCT>TGT p.S3610C MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 3610 Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|58. 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) GTGACCACTTCTACTCAGAGC 0.468 NA 6 173 0 0 0.001984 0 0 ORAI2 80228 broad.mit.edu 37 7 102079459 102079459 + Missense_Mutation SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr7:102079459C>G uc010lhz.1 + 3 291 c.56C>G c.(55-57)CCC>CGC p.P19R ORAI2_uc003uzj.2_Missense_Mutation_p.P19R|ORAI2_uc003uzk.2_Missense_Mutation_p.P19R|ORAI2_uc011kks.1_Intron NM_001126340 NP_001119812 Q96SN7 ORAI2_HUMAN ORAI calcium release-activated calcium modulator 19 integral to membrane protein binding ovary(1)|kidney(1) 2 TGCCCTGAGCCCGGCCATAAG 0.617 NA 22 77 0 0 0.004656 0 0 SLC26A5 375611 broad.mit.edu 37 7 103061306 103061306 + Silent SNP T T A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr7:103061306T>A uc003vbz.2 - 4 407 c.171A>T c.(169-171)ATA>ATT p.I57I SLC26A5_uc003vbt.1_Silent_p.I57I|SLC26A5_uc003vbu.1_Silent_p.I57I|SLC26A5_uc003vbv.1_Silent_p.I57I|SLC26A5_uc003vbw.2_RNA|SLC26A5_uc003vbx.2_Silent_p.I57I|SLC26A5_uc003vby.2_RNA|SLC26A5_uc010liy.2_RNA NM_198999 NP_945350 P58743 S26A5_HUMAN prestin isoform a 57 Cytoplasmic (Potential). regulation of cell shape|sensory perception of sound integral to membrane secondary active sulfate transmembrane transporter activity ovary(1) 1 TGATATTTCTTATTTTTTTAG 0.358 NA 16 53 0 0 0.004007 0 0 MLL5 55904 broad.mit.edu 37 7 104747098 104747098 + Missense_Mutation SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr7:104747098C>G uc003vcm.2 + 20 3260 c.2726C>G c.(2725-2727)TCT>TGT p.S909C MLL5_uc010ljc.2_Missense_Mutation_p.S909C|MLL5_uc010lje.1_Intron|MLL5_uc010ljf.1_5'Flank|MLL5_uc010ljg.2_5'Flank|MLL5_uc010ljh.1_5'Flank NM_182931 NP_891847 Q8IZD2 MLL5_HUMAN myeloid/lymphoid or mixed-lineage leukemia 5 909 cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent MLL5-L complex|nuclear speck enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding ovary(2)|pancreas(1) 3 ATGGACCCATCTTTTGCCACG 0.433 NA 7 166 0 0 0.001984 0 0 PUS7 54517 broad.mit.edu 37 7 105146454 105146454 + Missense_Mutation SNP C C A rs141658791 by1000genomes TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr7:105146454C>A uc003vcx.2 - 4 752 c.533G>T c.(532-534)CGA>CTA p.R178L PUS7_uc010lji.2_Missense_Mutation_p.R178L|PUS7_uc003vcy.2_Missense_Mutation_p.R178L|PUS7_uc003vcz.1_Missense_Mutation_p.R178L NM_019042 NP_061915 Q96PZ0 PUS7_HUMAN pseudouridylate synthase 7 homolog 178 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding breast(1) 1 CTCTTCCAATCGCTGCTTTTC 0.338 Colon(138;2387 3051 17860) NA 38 154 1.96642e-18 3.71435e-18 0.006999 1 0 CBLL1 79872 broad.mit.edu 37 7 107399464 107399464 + Silent SNP G G C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr7:107399464G>C uc003veq.2 + 6 1647 c.1317G>C c.(1315-1317)CTG>CTC p.L439L CBLL1_uc011kme.1_Silent_p.L318L|CBLL1_uc011kmf.1_Silent_p.L438L NM_024814 NP_079090 Q75N03 HAKAI_HUMAN Cas-Br-M (murine) ecotropic retroviral 439 Pro-rich. L -> P (in Ref. 1; BAB15544). cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(2)|skin(2)|lung(1) 5 AAGGAACTCTGAGCCCTCCAT 0.537 NA 6 101 0 0 0.001168 0 0 LAMB4 22798 broad.mit.edu 37 7 107688526 107688526 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr7:107688526C>A uc010ljo.1 - 28 4237 c.4153G>T c.(4153-4155)GTG>TTG p.V1385L LAMB4_uc003vey.2_Missense_Mutation_p.V1385L|LAMB4_uc010ljp.1_Missense_Mutation_p.V354L NM_007356 NP_031382 A4D0S4 LAMB4_HUMAN laminin, beta 4 precursor 1385 Domain alpha. cell adhesion basement membrane ovary(4)|breast(2)|large_intestine(1)|skin(1) 8 GGCAAGGGCACACATGGCACA 0.502 NA 26 130 1.17739e-12 2.00665e-12 0.005443 1 0 NRCAM 4897 broad.mit.edu 37 7 107823167 107823167 + Silent SNP A A T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr7:107823167A>T uc003vfb.2 - 23 2973 c.2502T>A c.(2500-2502)GCT>GCA p.A834A NRCAM_uc003vfc.2_Silent_p.A818A|NRCAM_uc011kmk.1_Silent_p.A829A|NRCAM_uc003vfd.2_Silent_p.A810A|NRCAM_uc003vfe.2_Silent_p.A810A NM_001037132 NP_001032209 Q92823 NRCAM_HUMAN neuronal cell adhesion molecule isoform A 834 Fibronectin type-III 2.|Extracellular (Potential). angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly external side of plasma membrane|integral to plasma membrane ankyrin binding ovary(3)|breast(2) 5 CCATGACTACAGCTGGCTCGG 0.483 NA 10 46 0 0 0.008291 0 0 LRRN3 54674 broad.mit.edu 37 7 110763749 110763750 + Missense_Mutation DNP CC CC AA TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr7:110763749_110763750CC>AA uc003vft.3 + 4 1967_1968 c.921_922CC>AA c.(919-924)AACCTG>AAAATG p.307_308NL>KM IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Missense_Mutation_p.307_308NL>KM|LRRN3_uc003vfs.3_Missense_Mutation_p.307_308NL>KM NM_001099660 NP_001093130 Q9H3W5 LRRN3_HUMAN leucine rich repeat neuronal 3 precursor 307_308 Extracellular (Potential). integral to membrane skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1) 8 UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125) CTGTGGATAACCTGCCAGATTT 0.396 NA 8 69 0 0 0.004672 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113519495 113519495 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr7:113519495C>A uc010ljy.1 - 4 1683 c.1652G>T c.(1651-1653)AGT>ATT p.S551I NM_002711 NP_002702 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory (inhibitor) 551 glycogen metabolic process integral to membrane lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1) 34 CCCTGCCACACTTATTTTAGG 0.413 NA 14 63 3.35478e-16 6.13823e-16 0.003163 1 0 KCND2 3751 broad.mit.edu 37 7 119915331 119915331 + Silent SNP C C T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr7:119915331C>T uc003vjj.1 + 1 1610 c.645C>T c.(643-645)CAC>CAT p.H215H NM_012281 NP_036413 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related 215 regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding ovary(2)|central_nervous_system(2)|skin(1) 5 all_neural(327;0.117) GCCCAGGTCACATTAAAGAAC 0.537 NA 6 36 0 0 0.001168 0 0 C7orf58 79974 broad.mit.edu 37 7 120655759 120655759 + Missense_Mutation SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr7:120655759G>A uc003vjq.3 + 3 737 c.290G>A c.(289-291)CGA>CAA p.R97Q C7orf58_uc003vjr.1_Missense_Mutation_p.R97Q|C7orf58_uc003vjs.3_Missense_Mutation_p.R97Q NM_024913 NP_079189 A4D0V7 CG058_HUMAN hypothetical protein LOC79974 isoform 1 97 endoplasmic reticulum ovary(4)|large_intestine(2)|skin(2)|pancreas(1) 9 all_neural(327;0.117) AGCCATGGCCGAAGGGCCATA 0.428 NA 5 63 0 0 0.000602 0 0 CADPS2 93664 broad.mit.edu 37 7 121985728 121985728 + Missense_Mutation SNP C C T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr7:121985728C>T uc010lkp.2 - 27 3675 c.3512G>A c.(3511-3513)GGA>GAA p.G1171E CADPS2_uc011knx.1_Missense_Mutation_p.G546E|CADPS2_uc003vkg.3_Missense_Mutation_p.G825E|CADPS2_uc010lkq.2_Missense_Mutation_p.G1130E NM_017954 NP_060424 Q86UW7 CAPS2_HUMAN Ca2+-dependent activator protein for secretion 2 1171 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|synapse lipid binding|metal ion binding ovary(1)|central_nervous_system(1) 2 CAGATCCATTCCTGGTTTCTG 0.318 NA 11 85 0 0 0.008291 0 0 ASB15 142685 broad.mit.edu 37 7 123257734 123257734 + Nonsense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr7:123257734G>T uc003vku.1 + 7 686 c.394G>T c.(394-396)GAA>TAA p.E132* ASB15_uc003vkv.1_Nonsense_Mutation_p.E132*|ASB15_uc003vkw.1_Nonsense_Mutation_p.E132* NM_080928 NP_563616 Q8WXK1 ASB15_HUMAN ankyrin repeat and SOCS box-containing 15 132 ANK 1. intracellular signal transduction skin(2)|lung(1) 3 AACTTTATTAGAAAAGGGAGT 0.388 NA 10 45 2.80697e-09 4.35308e-09 0.000978 1 0 GPR37 2861 broad.mit.edu 37 7 124404327 124404327 + Missense_Mutation SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr7:124404327G>A uc003vli.2 - 1 1355 c.704C>T c.(703-705)CCC>CTC p.P235L NM_005302 NP_005293 O15354 GPR37_HUMAN G protein-coupled receptor 37 precursor 235 Extracellular (Potential). endoplasmic reticulum membrane|integral to plasma membrane G-protein coupled receptor activity ovary(1)|lung(1)|central_nervous_system(1) 3 TCCCCGGCGGGGACCCCCAGG 0.632 NA 6 41 0 0 0.001168 0 0 GRM8 2918 broad.mit.edu 37 7 126883160 126883160 + Silent SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr7:126883160G>A uc003vlr.2 - 1 410 c.99C>T c.(97-99)AGC>AGT p.S33S GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Silent_p.S33S|GRM8_uc010lkz.1_RNA NM_000845 NP_000836 O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 isoform a 33 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) CATACTCCTGGCTGTGAGTTC 0.532 NA HNSCC(24;0.065) 21 79 0 0 0.001882 0 0 PAX4 5078 broad.mit.edu 37 7 127255572 127255572 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr7:127255572C>A uc010lld.1 - 1 209 c.3G>T c.(1-3)ATG>ATT p.M1I PAX4_uc003vmf.2_5'UTR|PAX4_uc003vmg.1_Missense_Mutation_p.M1I|PAX4_uc003vmh.2_5'UTR NM_006193 NP_006184 O43316 PAX4_HUMAN paired box 4 9 Paired. cell differentiation|endocrine pancreas development|organ morphogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 CAAGCTGGTTCATGCTGCTGA 0.637 Ovarian(113;737 1605 7858 27720 34092) NA 16 45 2.35188e-11 3.89948e-11 0.006122 1 0 IMPDH1 3614 broad.mit.edu 37 7 128034338 128034338 + Missense_Mutation SNP A A C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr7:128034338A>C uc011kol.1 - 13 1623 c.1517T>G c.(1516-1518)CTG>CGG p.L506R IMPDH1_uc011kom.1_Missense_Mutation_p.L501R|IMPDH1_uc003vmt.2_Missense_Mutation_p.L481R|IMPDH1_uc003vmu.2_Missense_Mutation_p.L591R|IMPDH1_uc003vmw.2_Missense_Mutation_p.L581R|IMPDH1_uc011kon.1_Missense_Mutation_p.L558R|IMPDH1_uc003vmv.2_Missense_Mutation_p.L555R|IMPDH1_uc003vmx.2_Missense_Mutation_p.L514R|IMPDH1_uc003vmy.2_Missense_Mutation_p.L522R|uc011koo.1_5'Flank NM_001142573 NP_001136045 P20839 IMDH1_HUMAN inosine monophosphate dehydrogenase 1 isoform e 506 GMP biosynthetic process|purine base metabolic process cytosol|nucleus DNA binding|IMP dehydrogenase activity|metal ion binding skin(2)|lung(1)|central_nervous_system(1) 4 Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352) TTACGAGTGCAGGCCATGGAC 0.592 NA 4 28 0 0 0.000602 0 0 CALU 813 broad.mit.edu 37 7 128398927 128398927 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr7:128398927G>T uc003vns.2 + 4 570 c.418G>T c.(418-420)GAT>TAT p.D140Y CALU_uc003vnq.2_Missense_Mutation_p.D140Y|CALU_uc003vnr.2_Missense_Mutation_p.D140Y NM_001130674 NP_001124146 O43852 CALU_HUMAN calumenin isoform b precursor 140 platelet activation|platelet degranulation extracellular region|Golgi apparatus|melanosome|sarcoplasmic reticulum lumen calcium ion binding|protein binding 0 TTTTCTAGATGATCCAGATCC 0.363 NA 25 83 9.86323e-18 1.84489e-17 0.003954 1 0 TNPO3 23534 broad.mit.edu 37 7 128612603 128612604 + Missense_Mutation DNP CC CC AA TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr7:128612603_128612604CC>AA uc003vol.1 - 19 2680_2681 c.2306_2307GG>TT c.(2305-2307)CGG>CTT p.R769L TNPO3_uc010llx.1_Missense_Mutation_p.R180L|TNPO3_uc003vom.1_Missense_Mutation_p.R703L|TNPO3_uc010lly.1_Missense_Mutation_p.R803L|TNPO3_uc010llz.1_Missense_Mutation_p.R705L NM_012470 NP_036602 Q9Y5L0 TNPO3_HUMAN transportin 3 769 splicing factor protein import into nucleus cytoplasm|nucleus protein binding|receptor activity ovary(2)|skin(2)|lung(1) 5 CCACTTGGCTCCGCAGCAAGGT 0.48 Pancreas(147;583 2585 39696 52331) NA 7 36 0 0 0.004672 0 0 FAM40B 57464 broad.mit.edu 37 7 129096289 129096289 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr7:129096289G>T uc011koy.1 + 9 884 c.844G>T c.(844-846)GGT>TGT p.G282C FAM40B_uc003vow.2_Missense_Mutation_p.G282C|FAM40B_uc011koz.1_5'Flank NM_020704 NP_065755 Q9ULQ0 FA40B_HUMAN hypothetical protein LOC57464 isoform a 282 0 GTTTACCCTCGGTGGATTTGA 0.512 NA 4 70 1.23904e-05 1.62503e-05 0.000602 1 0 PLXNA4 91584 broad.mit.edu 37 7 132192749 132192749 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr7:132192749G>T uc003vra.3 - 2 933 c.704C>A c.(703-705)ACC>AAC p.T235N PLXNA4_uc003vrc.2_Missense_Mutation_p.T235N|PLXNA4_uc003vrb.2_Missense_Mutation_p.T235N NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN plexin A4 isoform 1 235 Extracellular (Potential).|Sema. integral to membrane|intracellular|plasma membrane ovary(1) 1 AGGGATGATGGTGAAGGTGTC 0.488 NA 22 58 2.52088e-20 4.85034e-20 0.00278 1 0 AKR1B1 231 broad.mit.edu 37 7 134136493 134136493 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr7:134136493G>T uc003vrp.1 - 2 153 c.79C>A c.(79-81)CAG>AAG p.Q27K AKR1B1_uc003vrq.1_RNA NM_001628 NP_001619 P15121 ALDR_HUMAN aldo-keto reductase family 1, member B1 27 C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress cytosol|extracellular space|nucleus alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding ovary(3) 3 NADH(DB00157)|Sulindac(DB00605) TCAGTCACCTGCCCTGGAGGG 0.597 NA 5 21 0.000602214 0.000715729 0.000602 1 0 SVOPL 136306 broad.mit.edu 37 7 138329521 138329521 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr7:138329521G>T uc011kqh.1 - 8 730 c.730C>A c.(730-732)CGC>AGC p.R244S SVOPL_uc003vue.2_Missense_Mutation_p.R92S NM_001139456 NP_001132928 Q8N434 SVOPL_HUMAN SVOP-like isoform 1 244 integral to membrane transmembrane transporter activity 0 TTGGCAACGCGCTCCAGAGTG 0.587 NA 16 73 2.23348e-06 3.05455e-06 0.004007 1 0 PARP12 64761 broad.mit.edu 37 7 139756937 139756937 + Missense_Mutation SNP T T A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr7:139756937T>A uc003vvl.1 - 3 1353 c.479A>T c.(478-480)AAC>ATC p.N160I PARP12_uc003vvk.1_5'UTR|PARP12_uc010lnf.1_RNA NM_022750 NP_073587 Q9H0J9 PAR12_HUMAN poly ADP-ribose polymerase 12 160 C3H1-type 2. nucleus NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding ovary(3) 3 Melanoma(164;0.0142) ATCTCCTTTGTTGTAATGTTG 0.493 NA 33 97 0 0 0.002096 0 0 PRSS1 5644 broad.mit.edu 37 7 142459706 142459706 + Missense_Mutation SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr7:142459706C>G uc003wak.2 + 3 299 c.282C>G c.(280-282)ATC>ATG p.I94M uc011krr.1_Intron|uc003vzp.2_Intron|uc011ksh.1_Intron|uc011ksi.1_Intron|uc003vzw.1_Intron|uc010loj.1_Intron|uc003wad.2_Intron|uc003wag.1_Intron|TRY6_uc011ksn.1_Intron|PRSS1_uc011ksm.1_3'UTR|PRSS1_uc003wam.2_Missense_Mutation_p.I34M NM_002769 NP_002760 P07477 TRY1_HUMAN protease, serine, 1 preproprotein 94 Peptidase S1. digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity large_intestine(1)|central_nervous_system(1) 2 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) CCAAGATCATCCGCCACCCCC 0.542 NA Hereditary_Pancreatitis 32 110 0 0 0.003271 0 0 TAS2R41 259287 broad.mit.edu 37 7 143175208 143175208 + Silent SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr7:143175208C>A uc003wdc.1 + 1 243 c.243C>A c.(241-243)GGC>GGA p.G81G uc003wda.2_Intron NM_176883 NP_795364 P59536 T2R41_HUMAN taste receptor, type 2, member 41 81 Extracellular (Potential). sensory perception of taste integral to membrane G-protein coupled receptor activity pancreas(1)|skin(1) 2 Melanoma(164;0.15) GGGGTCTCGGCCGACAGTTCT 0.537 NA 27 91 1.17739e-12 2.00665e-12 0.005443 1 0 OR2A7 401427 broad.mit.edu 37 7 143973470 143973470 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr7:143973470C>A uc003wef.2 - 4 423 c.272G>T c.(271-273)AGC>ATC p.S91I OR2A9P_uc003wec.1_Intron Q96R45 OR2A7_HUMAN SubName: Full=LOC728377 protein; Flags: Fragment; Error:Variant_position_missing_in_Q96R45_after_alignment sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Melanoma(164;0.14) AATCTTCTGGCTCAGGTAGAT 0.542 NA 8 202 3.07112e-06 4.16617e-06 0.000978 1 0 OR2A7 401427 broad.mit.edu 37 7 143973472 143973472 + Silent SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr7:143973472C>A uc003wef.2 - 4 421 c.270G>T c.(268-270)CTG>CTT p.L90L OR2A9P_uc003wec.1_Intron Q96R45 OR2A7_HUMAN SubName: Full=LOC728377 protein; Flags: Fragment; Error:Variant_position_missing_in_Q96R45_after_alignment sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Melanoma(164;0.14) TCTTCTGGCTCAGGTAGATTA 0.537 NA 10 205 5.50884e-06 7.37624e-06 0.001368 1 0 TPK1 27010 broad.mit.edu 37 7 144245632 144245632 + Nonsense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr7:144245632C>A uc003weq.2 - 8 668 c.565G>T c.(565-567)GGA>TGA p.G189* TPK1_uc003weo.2_Nonsense_Mutation_p.G135*|TPK1_uc003wep.2_RNA|TPK1_uc003wer.2_Nonsense_Mutation_p.G140*|TPK1_uc003wes.2_RNA NM_022445 NP_071890 Q9H3S4 TPK1_HUMAN thiamin pyrophosphokinase 1 isoform a 189 thiamine diphosphate biosynthetic process cytosol ATP binding|kinase activity|thiamine diphosphokinase activity ovary(2) 2 Thiamine(DB00152) CAAGGCTGTCCAACAGGAATA 0.403 Ovarian(45;88 1034 2073 5829 28455) NA 15 88 2.35188e-11 3.89948e-11 0.006122 1 0 CUL1 8454 broad.mit.edu 37 7 148427288 148427288 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr7:148427288G>T uc010lpg.2 + 2 600 c.74G>T c.(73-75)AGA>ATA p.R25I CUL1_uc003wey.2_Missense_Mutation_p.R25I|CUL1_uc003wez.2_5'UTR NM_003592 NP_003583 Q13616 CUL1_HUMAN cullin 1 25 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytosol|nucleoplasm|SCF ubiquitin ligase complex ubiquitin protein ligase binding lung(1) 1 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00291) GACGACCTCAGAGCCGGCATC 0.567 NA 13 67 6.81908e-15 1.21944e-14 0.00245 1 0 CUL1 8454 broad.mit.edu 37 7 148486887 148486887 + Missense_Mutation SNP A A C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr7:148486887A>C uc010lpg.2 + 15 2169 c.1643A>C c.(1642-1644)CAG>CCG p.Q548P CUL1_uc003wey.2_Missense_Mutation_p.Q548P|CUL1_uc003wez.2_Missense_Mutation_p.Q438P|CUL1_uc003wfa.2_Missense_Mutation_p.Q209P NM_003592 NP_003583 Q13616 CUL1_HUMAN cullin 1 548 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytosol|nucleoplasm|SCF ubiquitin ligase complex ubiquitin protein ligase binding lung(1) 1 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00291) TGGCCCTTCCAGCAGTCTTGT 0.517 NA 41 130 0 0 0.00361 0 0 MLL3 58508 broad.mit.edu 37 7 151871221 151871221 + Missense_Mutation SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr7:151871221C>G uc003wla.2 - 39 9588 c.9369G>C c.(9367-9369)ATG>ATC p.M3123I MLL3_uc003wkz.2_Missense_Mutation_p.M2184I|MLL3_uc003wky.2_Missense_Mutation_p.M632I NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 3123 Gln-rich. intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) CCTACCTGCTCATCACCATTG 0.393 Colon(68;14 1149 1884 27689 34759) NA N medulloblastoma 3 74 0 0 0.004672 0 0 MLL3 58508 broad.mit.edu 37 7 151879291 151879291 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr7:151879291C>A uc003wla.2 - 36 5873 c.5654G>T c.(5653-5655)GGG>GTG p.G1885V MLL3_uc003wkz.2_Missense_Mutation_p.G946V NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 1885 Pro-rich. intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) GTTAGAGGACCCAGGTGAAAA 0.532 Colon(68;14 1149 1884 27689 34759) NA N medulloblastoma 21 95 2.37509e-13 4.13716e-13 0.001523 1 0 VIPR2 7434 broad.mit.edu 37 7 158835763 158835763 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr7:158835763G>T uc003woh.2 - 6 746 c.560C>A c.(559-561)TCT>TAT p.S187Y VIPR2_uc010lqx.2_RNA|VIPR2_uc010lqy.2_RNA NM_003382 NP_003373 P41587 VIPR2_HUMAN vasoactive intestinal peptide receptor 2 187 Extracellular (Potential). cell-cell signaling integral to plasma membrane p.S187Y(1) lung(1)|central_nervous_system(1) 2 Ovarian(565;0.152) all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00231) UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18) CAACGTGCCAGAGCTGGAGTA 0.557 Pancreas(154;1876 1931 2329 17914 20079) NA 6 31 1.26484e-09 1.98445e-09 0.00308 1 0 RP1L1 94137 broad.mit.edu 37 8 10468763 10468763 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr8:10468763G>T uc003wtc.2 - 4 3074 c.2845C>A c.(2845-2847)CCC>ACC p.P949T NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 949 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) GACGAGCGGGGCAGAGAGCTG 0.642 NA 7 43 5.4927e-09 8.40171e-09 0.004482 1 0 MSR1 4481 broad.mit.edu 37 8 16032707 16032707 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr8:16032707C>A uc003wwz.2 - 3 404 c.206G>T c.(205-207)GGA>GTA p.G69V MSR1_uc010lsu.2_Missense_Mutation_p.G87V|MSR1_uc003wxa.2_Missense_Mutation_p.G69V|MSR1_uc003wxb.2_Missense_Mutation_p.G69V|MSR1_uc011kxz.1_Intron NM_138715 NP_619729 P21757 MSRE_HUMAN macrophage scavenger receptor 1 isoform type 1 69 Helical; Signal-anchor for type II membrane protein; (Potential). cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis collagen|integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|protein binding|scavenger receptor activity ovary(1) 1 Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164) TGCCACTATTCCAATGAGAGG 0.418 NA 8 27 1.12685e-05 1.48953e-05 0.004482 1 0 RAB11FIP1 80223 broad.mit.edu 37 8 37729733 37729733 + Nonsense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr8:37729733C>A uc003xkm.1 - 4 2631 c.2587G>T c.(2587-2589)GAA>TAA p.E863* RAB11FIP1_uc010lvz.1_Intron|RAB11FIP1_uc003xkn.1_Intron|RAB11FIP1_uc003xkl.1_Nonsense_Mutation_p.E192*|RAB11FIP1_uc003xko.1_Nonsense_Mutation_p.E192*|RAB11FIP1_uc003xkp.1_Intron NM_001002814 NP_001002814 Q6WKZ4 RFIP1_HUMAN RAB11 family interacting protein 1 isoform 3 863 protein transport centrosome|phagocytic vesicle membrane|recycling endosome protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;3.62e-11) GATTCCCTTTCTGAGTCCTCT 0.627 NA 15 66 2.32078e-09 3.60742e-09 0.003163 1 0 IKBKB 3551 broad.mit.edu 37 8 42179669 42179669 + Silent SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr8:42179669C>G uc003xow.1 + 18 2013 c.1836C>G c.(1834-1836)CTC>CTG p.L612L IKBKB_uc011lco.1_RNA|IKBKB_uc010lxj.1_Silent_p.L389L|IKBKB_uc003xox.1_Silent_p.L333L|IKBKB_uc011lcp.1_RNA|IKBKB_uc011lcq.1_Silent_p.L610L|IKBKB_uc010lxi.1_RNA|IKBKB_uc011lcr.1_Silent_p.L553L NM_001556 NP_001547 O14920 IKKB_HUMAN inhibitor of nuclear factor kappa B kinase beta 612 anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|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 CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft ATP binding|identical protein binding|IkappaB kinase activity breast(3)|ovary(2)|lung(1)|skin(1) 7 all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211) all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264) Arsenic trioxide(DB01169)|Auranofin(DB00995) ATACGCAGCTCAGGTATGAGC 0.547 NA 7 52 0 0 0.001984 0 0 CHRNB3 1142 broad.mit.edu 37 8 42591710 42591711 + Missense_Mutation DNP GG GG TT TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr8:42591710_42591711GG>TT uc003xpi.1 + 6 1454_1455 c.1326_1327GG>TT c.(1324-1329)TCGGTT>TCTTTT p.V443F NM_000749 NP_000740 Q05901 ACHB3_HUMAN cholinergic receptor, nicotinic, beta 443 Helical; (Potential). synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity ovary(1) 1 all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869) TAACAGGCTCGGTTCTGATTTT 0.396 NA 37 111 0 0 0.004672 0 0 ST18 9705 broad.mit.edu 37 8 53084452 53084452 + Silent SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr8:53084452G>T uc003xqz.2 - 5 1125 c.969C>A c.(967-969)ACC>ACA p.T323T ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Silent_p.T288T|ST18_uc011lds.1_Silent_p.T228T|ST18_uc003xra.2_Silent_p.T323T|ST18_uc003xrb.2_Silent_p.T323T NM_014682 NP_055497 O60284 ST18_HUMAN suppression of tumorigenicity 18 323 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(1) 5 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) GCTCTTTGTAGGTGTTATGGA 0.483 NA 19 66 2.4624e-09 3.82312e-09 0.001216 1 0 RGS20 8601 broad.mit.edu 37 8 54764607 54764607 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr8:54764607G>T uc003xrp.2 + 1 240 c.148G>T c.(148-150)GCT>TCT p.A50S RGS20_uc003xrq.2_Missense_Mutation_p.A50S|RGS20_uc010lye.2_Silent_p.G6G|RGS20_uc010lyf.2_Silent_p.G6G NM_170587 NP_733466 O76081 RGS20_HUMAN regulator of G-protein signaling 20 isoform a 50 negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|nucleus|plasma membrane GTPase activator activity|protein binding|signal transducer activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009) AGACCTCAGGGCTGTTCCTGA 0.433 NA 15 28 6.72482e-11 1.09472e-10 0.003163 1 0 NSMAF 8439 broad.mit.edu 37 8 59515919 59515919 + Missense_Mutation SNP C C T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr8:59515919C>T uc003xtt.2 - 13 1109 c.895G>A c.(895-897)GAG>AAG p.E299K NSMAF_uc011lee.1_Missense_Mutation_p.E330K|NSMAF_uc003xtu.2_Missense_Mutation_p.E299K NM_003580 NP_003571 Q92636 FAN_HUMAN neutral sphingomyelinase (N-SMase) activation 299 BEACH. ceramide metabolic process cytoplasm|soluble fraction protein binding|receptor signaling protein activity ovary(1) 1 all_lung(136;0.174)|Lung NSC(129;0.2) ATGTAGCTCTCAGCAGTGTGC 0.557 NA 15 43 0 0 0.00245 0 0 NCOA2 10499 broad.mit.edu 37 8 71068584 71068584 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr8:71068584C>A uc003xyn.1 - 11 2178 c.2016G>T c.(2014-2016)TTG>TTT p.L672F NM_006540 NP_006531 Q15596 NCOA2_HUMAN nuclear receptor coactivator 2 672 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity PAX3/NCOA2(4) lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1) 16 Breast(64;0.201) Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606) CAGAACCAGGCAAGCTACCTG 0.517 NA T RUNXBP2 AML 62 71 1.72039e-30 3.41787e-30 0.00361 1 0 KCNB2 9312 broad.mit.edu 37 8 73480145 73480145 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr8:73480145C>A uc003xzb.2 + 2 764 c.176C>A c.(175-177)ACG>AAG p.T59K NM_004770 NP_004761 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related 59 Cytoplasmic (Potential). regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1) 7 Breast(64;0.137) Epithelial(68;0.105) CTGCCCAGGACGCGCCTGGGG 0.537 NA 30 82 5.6714e-07 7.96725e-07 0.002096 1 0 STAU2 27067 broad.mit.edu 37 8 74515961 74515961 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr8:74515961C>A uc003xzm.2 - 10 1265 c.1029G>T c.(1027-1029)CAG>CAT p.Q343H STAU2_uc011lfg.1_Missense_Mutation_p.Q171H|STAU2_uc003xzn.2_Missense_Mutation_p.Q311H|STAU2_uc011lfh.1_Missense_Mutation_p.Q239H|STAU2_uc003xzo.2_Missense_Mutation_p.Q343H|STAU2_uc003xzp.2_Missense_Mutation_p.Q311H|STAU2_uc011lfi.1_Missense_Mutation_p.Q305H|STAU2_uc003xzq.2_Missense_Mutation_p.Q123H|STAU2_uc010lzk.2_Missense_Mutation_p.Q311H|STAU2_uc010lzl.1_Missense_Mutation_p.Q171H NM_014393 NP_055208 Q9NUL3 STAU2_HUMAN staufen homolog 2 isoform e 343 DRBM 4. transport endoplasmic reticulum|microtubule|nucleolus double-stranded RNA binding 0 Breast(64;0.0138) Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972) TTAGAAATACCTGCATCACAA 0.423 NA 17 27 9.7654e-05 0.000121435 0.007413 1 0 Unknown 0 broad.mit.edu 37 8 86567355 86567355 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr8:86567355G>T uc003ydl.1 - 1 551 c.464C>A c.(463-465)ACG>AAG p.T155K NM_172239 NP_758439 exonuclease GOR NA CAGGCCATGCGTGGTGTAGCA 0.567 NA 13 138 0.00010058 0.000124382 0.001368 1 0 DCAF4L2 138009 broad.mit.edu 37 8 88885094 88885094 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr8:88885094G>T uc003ydz.2 - 1 1203 c.1106C>A c.(1105-1107)TCT>TAT p.S369Y NM_152418 NP_689631 Q8NA75 DC4L2_HUMAN WD repeat domain 21C 369 ovary(1) 1 GAGGCGAGAAGAGAAGGCCAC 0.587 NA 13 53 1.36491e-13 2.38371e-13 0.001855 1 0 DCAF4L2 138009 broad.mit.edu 37 8 88885822 88885822 + Silent SNP C C T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr8:88885822C>T uc003ydz.2 - 1 475 c.378G>A c.(376-378)AAG>AAA p.K126K NM_152418 NP_689631 Q8NA75 DC4L2_HUMAN WD repeat domain 21C 126 ovary(1) 1 TAGAATTCACCTTCCGATTAG 0.562 NA 25 61 0 0 0.003954 0 0 NECAB1 64168 broad.mit.edu 37 8 91929850 91929850 + Missense_Mutation SNP A A G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr8:91929850A>G uc011lgg.1 + 6 682 c.488A>G c.(487-489)CAA>CGA p.Q163R NM_022351 NP_071746 Q8N987 NECA1_HUMAN N-terminal EF-hand calcium binding protein 1 163 Potential. antibiotic biosynthetic process cytoplasm calcium ion binding|oxidoreductase activity central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(11;0.0499) CAAACCCGTCAAGAAAGGCAA 0.378 NA 3 56 0 0 0.004672 0 0 CDH17 1015 broad.mit.edu 37 8 95183141 95183141 + Missense_Mutation SNP T T C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr8:95183141T>C uc003ygh.2 - 8 981 c.856A>G c.(856-858)ATT>GTT p.I286V CDH17_uc011lgo.1_Intron|CDH17_uc011lgp.1_Missense_Mutation_p.I286V NM_004063 NP_004054 Q12864 CAD17_HUMAN cadherin 17 precursor 286 Extracellular (Potential).|Cadherin 3. integral to membrane calcium ion binding ovary(5)|skin(1) 6 Breast(36;4.65e-06) BRCA - Breast invasive adenocarcinoma(8;0.00691) TCCTGGTCAATTGAAAATGGG 0.463 NA 25 104 0 0 0.005443 0 0 ESRP1 54845 broad.mit.edu 37 8 95690472 95690472 + Missense_Mutation SNP G G C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr8:95690472G>C uc003ygq.3 + 13 1876 c.1693G>C c.(1693-1695)GTT>CTT p.V565L ESRP1_uc003ygr.3_Missense_Mutation_p.V561L|ESRP1_uc003ygs.3_Missense_Mutation_p.V561L|ESRP1_uc003ygt.3_Missense_Mutation_p.V565L|ESRP1_uc003ygu.3_Missense_Mutation_p.V561L|ESRP1_uc003ygv.2_Missense_Mutation_p.V405L|ESRP1_uc003ygw.2_Missense_Mutation_p.V405L NM_017697 NP_060167 Q6NXG1 ESRP1_HUMAN RNA binding motif protein 35A isoform 1 565 mRNA processing|regulation of RNA splicing|RNA splicing nucleus|plasma membrane mRNA binding|nucleotide binding ESRP1/RAF1(4) prostate(4) 4 TCCTGCTGCAGTTATTCCTAC 0.498 NA 21 40 0 0 0.002299 0 0 DPY19L4 286148 broad.mit.edu 37 8 95800281 95800281 + Splice_Site SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr8:95800281G>T uc003ygx.2 + 18 2131 c.2007_splice c.e18+1 p.H669_splice NM_181787 NP_861452 Q7Z388 D19L4_HUMAN dpy-19-like 4 integral to membrane ovary(2) 2 Breast(36;3.85e-06) AAATGGCCACGTAAGTAACCA 0.284 NA 7 51 5.18039e-06 6.99223e-06 0.00308 1 0 PGCP 10404 broad.mit.edu 37 8 97978195 97978195 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr8:97978195G>T uc003yhw.2 + 5 1048 c.882G>T c.(880-882)TGG>TGT p.W294C PGCP_uc010mbe.2_Missense_Mutation_p.W294C NM_016134 NP_057218 Q9Y646 PGCP_HUMAN plasma glutamate carboxypeptidase precursor 294 peptide metabolic process|proteolysis cytoplasm|extracellular space metal ion binding|metallocarboxypeptidase activity upper_aerodigestive_tract(1) 1 Breast(36;1.86e-05) TGGACAGCTGGGATGTTGGGC 0.358 NA 8 48 0.000157383 0.000191976 0.00308 1 0 MATN2 4147 broad.mit.edu 37 8 98943360 98943360 + Nonsense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr8:98943360G>T uc003yic.2 + 3 553 c.322G>T c.(322-324)GAG>TAG p.E108* MATN2_uc003yib.1_Nonsense_Mutation_p.E108*|MATN2_uc010mbh.1_Nonsense_Mutation_p.E108*|MATN2_uc003yid.2_Nonsense_Mutation_p.E108*|MATN2_uc003yie.1_Nonsense_Mutation_p.E108*|MATN2_uc010mbi.1_5'UTR NM_002380 NP_002371 O00339 MATN2_HUMAN matrilin 2 isoform a precursor 108 VWFA 1. proteinaceous extracellular matrix calcium ion binding ovary(2) 2 Breast(36;1.43e-06) OV - Ovarian serous cystadenocarcinoma(57;0.244) TGTCAAGAATGAGTTCTCCCT 0.542 NA 7 41 0.00198382 0.00231877 0.001984 1 0 RGS22 26166 broad.mit.edu 37 8 101065078 101065078 + Silent SNP G G C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr8:101065078G>C uc003yjb.1 - 10 1836 c.1641C>G c.(1639-1641)CTC>CTG p.L547L RGS22_uc003yja.1_Silent_p.L366L|RGS22_uc003yjc.1_Silent_p.L535L|RGS22_uc011lgz.1_RNA|RGS22_uc010mbo.1_RNA NM_015668 NP_056483 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 547 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity ovary(3)|skin(2)|breast(1)|central_nervous_system(1) 7 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) TTAATGGCAAGAGGGTTGCCA 0.423 NA 4 165 0 0 0.000602 0 0 UBR5 51366 broad.mit.edu 37 8 103277397 103277397 + Missense_Mutation SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr8:103277397C>G uc003ykr.1 - 53 7565 c.7532G>C c.(7531-7533)AGA>ACA p.R2511T UBR5_uc003yks.1_Missense_Mutation_p.R2510T|UBR5_uc003ykq.2_Missense_Mutation_p.R22T NM_015902 NP_056986 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 2511 HECT. cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1) 28 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) ATAAAATCCTCTTTTCCCAGG 0.403 Ovarian(131;96 1741 5634 7352 27489) NA 4 99 0 0 0.000248 0 0 RIMS2 9699 broad.mit.edu 37 8 104948909 104948909 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr8:104948909C>A uc003yls.2 + 11 2081 c.1840C>A c.(1840-1842)CAA>AAA p.Q614K RIMS2_uc003ylp.2_Missense_Mutation_p.Q836K|RIMS2_uc003ylw.2_Missense_Mutation_p.Q628K|RIMS2_uc003ylq.2_Missense_Mutation_p.Q628K|RIMS2_uc003ylr.2_Missense_Mutation_p.Q675K|RIMS2_uc003ylt.2_Missense_Mutation_p.Q221K NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 898 C2 1. intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) CCTTTGGGATCAAGCTCGTGT 0.373 NA HNSCC(12;0.0054) 22 69 1.96895e-08 2.93811e-08 0.00278 1 0 TM7SF4 81501 broad.mit.edu 37 8 105361740 105361740 + Silent SNP C C A rs144377739 byFrequency TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr8:105361740C>A uc003ylx.1 + 2 1009 c.960C>A c.(958-960)CTC>CTA p.L320L NM_030788 NP_110415 Q9H295 TM7S4_HUMAN dendritic cell-specific transmembrane protein 320 osteoclast differentiation cell surface|integral to membrane|plasma membrane pancreas(2)|large_intestine(1)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) TGTATCGGCTCATTTTCTCAG 0.458 NA 73 176 1.54081e-58 3.13531e-58 0.00361 1 0 ZFPM2 23414 broad.mit.edu 37 8 106813863 106813863 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr8:106813863C>A uc003ymd.2 + 8 1576 c.1553C>A c.(1552-1554)GCT>GAT p.A518D ZFPM2_uc011lhs.1_Missense_Mutation_p.A249D NM_012082 NP_036214 Q8WW38 FOG2_HUMAN zinc finger protein, multitype 2 518 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding ovary(4)|large_intestine(1) 5 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) GAGATCTTAGCTAAGATGTCT 0.502 NA 60 132 5.47352e-35 1.09716e-34 0.00361 1 0 CSMD3 114788 broad.mit.edu 37 8 113529330 113529330 + Missense_Mutation SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr8:113529330C>G uc003ynu.2 - 28 4848 c.4689G>C c.(4687-4689)GAG>GAC p.E1563D CSMD3_uc003yns.2_Missense_Mutation_p.E835D|CSMD3_uc003ynt.2_Missense_Mutation_p.E1523D|CSMD3_uc011lhx.1_Missense_Mutation_p.E1459D NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1563 Extracellular (Potential).|Sushi 8. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 TTATTCTTTCCTCTCCTTGAA 0.433 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 24 70 0 0 0.004656 0 0 CSMD3 114788 broad.mit.edu 37 8 113694742 113694742 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr8:113694742C>A uc003ynu.2 - 16 2765 c.2606G>T c.(2605-2607)GGA>GTA p.G869V CSMD3_uc003yns.2_Missense_Mutation_p.G141V|CSMD3_uc003ynt.2_Missense_Mutation_p.G829V|CSMD3_uc011lhx.1_Missense_Mutation_p.G765V NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 869 Sushi 4.|Extracellular (Potential). integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 TGTTTCTGTTCCCTGGGTTTT 0.373 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 20 63 5.35267e-07 7.53525e-07 0.007413 1 0 CSMD3 114788 broad.mit.edu 37 8 113694744 113694744 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr8:113694744C>A uc003ynu.2 - 16 2763 c.2604G>T c.(2602-2604)CAG>CAT p.Q868H CSMD3_uc003yns.2_Missense_Mutation_p.Q140H|CSMD3_uc003ynt.2_Missense_Mutation_p.Q828H|CSMD3_uc011lhx.1_Missense_Mutation_p.Q764H NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 868 Sushi 4.|Extracellular (Potential). integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 TTTCTGTTCCCTGGGTTTTAA 0.378 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 18 67 1.99824e-07 2.86407e-07 0.00499 1 0 TRPS1 7227 broad.mit.edu 37 8 116631637 116631637 + Missense_Mutation SNP G G C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr8:116631637G>C uc003ynz.2 - 2 1108 c.649C>G c.(649-651)CCA>GCA p.P217A TRPS1_uc011lhy.1_Missense_Mutation_p.P221A|TRPS1_uc003yny.2_Missense_Mutation_p.P230A|TRPS1_uc010mcy.2_Missense_Mutation_p.P217A NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN zinc finger transcription factor TRPS1 217 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1) 7 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) TGAAGCTCTGGAGACAGAGGT 0.453 NA Langer-Giedion_syndrome 5 159 0 0 0.000602 0 0 COL14A1 7373 broad.mit.edu 37 8 121357730 121357730 + Missense_Mutation SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr8:121357730G>A uc003yox.2 + 45 5270 c.5005G>A c.(5005-5007)GGT>AGT p.G1669S COL14A1_uc003yoz.2_Missense_Mutation_p.G634S NM_021110 NP_066933 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 precursor 1669 Triple-helical region 2 (COL1). cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1) 12 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) TGGAGCCCCTGGTGAACAAGG 0.642 NA 8 39 0 0 0.004482 0 0 ATAD2 29028 broad.mit.edu 37 8 124333375 124333375 + Silent SNP C C T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr8:124333375C>T uc003yqh.3 - 28 4280 c.4172G>A c.(4171-4173)TGA>TAA p.*1391* ATAD2_uc011lii.1_Silent_p.*1182*|ATAD2_uc003yqi.3_RNA NM_014109 NP_054828 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 1391 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity ovary(2) 2 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) ATGACATCATCATCTGGAACA 0.343 NA 7 84 0 0 0.004482 0 0 FAM91A1 157769 broad.mit.edu 37 8 124801879 124801879 + Silent SNP A A T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr8:124801879A>T uc003yqv.2 + 15 1366 c.1305A>T c.(1303-1305)GCA>GCT p.A435A FAM91A1_uc011lik.1_Silent_p.A435A|FAM91A1_uc011lil.1_Silent_p.A193A NM_144963 NP_659400 Q658Y4 F91A1_HUMAN hypothetical protein LOC157769 435 ovary(1)|central_nervous_system(1) 2 Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00192) AAGGAGAAGCACAGAGATATT 0.378 NA 18 68 0 0 0.001523 0 0 FER1L6 654463 broad.mit.edu 37 8 124988193 124988193 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr8:124988193G>T uc003yqw.2 + 9 945 c.739G>T c.(739-741)GTG>TTG p.V247L NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 247 C2 2.|Cytoplasmic (Potential). integral to membrane ovary(5)|skin(5)|central_nervous_system(1) 11 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) CAGATTCTATGTGAGACTCTA 0.468 NA 21 158 1.9806e-07 2.84182e-07 0.002299 1 0 FER1L6 654463 broad.mit.edu 37 8 125074120 125074120 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr8:125074120C>A uc003yqw.2 + 25 3381 c.3175C>A c.(3175-3177)CCG>ACG p.P1059T uc003yqy.1_Intron NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 1059 Cytoplasmic (Potential).|C2 4. integral to membrane ovary(5)|skin(5)|central_nervous_system(1) 11 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) GCTTCTGCACCCGCCACTGAG 0.547 NA 17 69 1.02788e-11 1.71911e-11 0.00499 1 0 ASAP1 50807 broad.mit.edu 37 8 131073179 131073179 + Silent SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr8:131073179C>A uc003yta.1 - 27 2866 c.2838G>T c.(2836-2838)CTG>CTT p.L946L ASAP1_uc003ysz.1_Silent_p.L757L|ASAP1_uc011liw.1_Silent_p.L939L NM_018482 NP_060952 Q9ULH1 ASAP1_HUMAN development and differentiation enhancing factor 946 Pro-rich. 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 GCTTGGGGGCCAGTTCTGTGG 0.577 NA 61 177 9.04393e-38 1.81826e-37 0.00361 1 0 ADCY8 114 broad.mit.edu 37 8 131964203 131964203 + Silent SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr8:131964203C>A uc003ytd.3 - 3 1408 c.1152G>T c.(1150-1152)CTG>CTT p.L384L ADCY8_uc010mds.2_Silent_p.L384L NM_001115 NP_001106 P40145 ADCY8_HUMAN adenylate cyclase 8 384 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding skin(4)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) TGATCATTTCCAGGACAACAA 0.532 NA HNSCC(32;0.087) 17 65 1.5739e-10 2.54668e-10 0.004007 1 0 ADCY8 114 broad.mit.edu 37 8 132002674 132002674 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr8:132002674C>A uc003ytd.3 - 2 1331 c.1075G>T c.(1075-1077)GCC>TCC p.A359S ADCY8_uc010mds.2_Missense_Mutation_p.A359S NM_001115 NP_001106 P40145 ADCY8_HUMAN adenylate cyclase 8 359 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding skin(4)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) CGCAGCCTGGCCTCCACACAC 0.502 NA HNSCC(32;0.087) 34 130 4.34311e-12 7.30926e-12 0.003271 1 0 FAM135B 51059 broad.mit.edu 37 8 139155268 139155268 + Missense_Mutation SNP T T A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr8:139155268T>A uc003yuy.2 - 16 3796 c.3625A>T c.(3625-3627)ATA>TTA p.I1209L FAM135B_uc003yux.2_Missense_Mutation_p.I1110L|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.I771L|FAM135B_uc003yvb.2_3'UTR NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 1209 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) ATTCGGGATATGGAGAGGTTG 0.403 NA HNSCC(54;0.14) 14 28 0 0 0.001855 0 0 TSNARE1 203062 broad.mit.edu 37 8 143436085 143436085 + Missense_Mutation SNP T T G rs147546908 TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr8:143436085T>G uc003ywk.2 - 2 119 c.1A>C c.(1-3)ATG>CTG p.M1L TSNARE1_uc011lju.1_Missense_Mutation_p.M1L|TSNARE1_uc003ywj.2_Missense_Mutation_p.M1L|TSNARE1_uc003ywl.3_Missense_Mutation_p.M1L NM_145003 NP_659440 Q96NA8 TSNA1_HUMAN t-SNARE domain containing 1 1 vesicle-mediated transport integral to membrane 0 all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) CCGTATGACATCTTCTTACAG 0.572 NA 15 25 0 0 0.00499 0 0 KIAA2026 158358 broad.mit.edu 37 9 5922478 5922478 + Missense_Mutation SNP A A G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr9:5922478A>G uc003zjq.3 - 8 3734 c.3518T>C c.(3517-3519)ATT>ACT p.I1173T KIAA2026_uc010mht.2_Missense_Mutation_p.I348T NM_001017969 NP_001017969 Q5HYC2 K2026_HUMAN hypothetical protein LOC158358 1173 ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124) TAAAGGTGTAATTGTTTTGTT 0.368 NA 4 91 0 0 0.001168 0 0 ADAMTSL1 92949 broad.mit.edu 37 9 18635992 18635992 + Missense_Mutation SNP T T C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr9:18635992T>C uc003zne.3 + 6 780 c.653T>C c.(652-654)GTC>GCC p.V218A ADAMTSL1_uc003znb.2_Missense_Mutation_p.V218A|ADAMTSL1_uc003znc.3_Missense_Mutation_p.V218A NM_001040272 NP_001035362 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 isoform 4 precursor 218 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(3)|upper_aerodigestive_tract(1)|lung(1) 5 GBM - Glioblastoma multiforme(50;1.29e-17) ATTCGCCTTGTCTTAAAAGGT 0.353 NA 20 55 0 0 0.001882 0 0 TAF1L 138474 broad.mit.edu 37 9 32633404 32633404 + Missense_Mutation SNP C C T rs145899352 TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr9:32633404C>T uc003zrg.1 - 1 2264 c.2174G>A c.(2173-2175)CGG>CAG p.R725Q uc003zrh.1_5'Flank NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN TBP-associated factor RNA polymerase 1-like 725 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1) 26 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) GCCAGGTTTCCGTTTATAATA 0.423 NA 53 112 0 0 0.00361 0 0 AQP7 364 broad.mit.edu 37 9 33395131 33395131 + Missense_Mutation SNP T T A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr9:33395131T>A uc003zst.2 - 3 261 c.89A>T c.(88-90)CAG>CTG p.Q30L SUGT1P1_uc010mjq.1_Intron|AQP7_uc003zsu.1_Intron|AQP7_uc010mjs.2_5'Flank|AQP7_uc010mjt.2_5'UTR|AQP7_uc011lnx.1_Missense_Mutation_p.Q30L|AQP7_uc011lny.1_Missense_Mutation_p.Q29L|AQP7_uc003zss.3_5'UTR|AQP7_uc011lnz.1_5'UTR|AQP7_uc011loa.1_5'UTR NM_001170 NP_001161 O14520 AQP7_HUMAN aquaporin 7 30 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) CATCTTCCTCTGCAGTATTTC 0.577 NA 16 32 0 0 0.003163 0 0 TLN1 7094 broad.mit.edu 37 9 35711289 35711289 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr9:35711289C>A uc003zxt.2 - 30 4336 c.3982G>T c.(3982-3984)GCC>TCC p.A1328S NM_006289 NP_006280 Q9Y490 TLN1_HUMAN talin 1 1328 Interaction with SYNM. axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding lung(7)|breast(3)|ovary(2)|central_nervous_system(1) 13 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) AGGTTAGGGGCAGCAGGGTCC 0.582 NA 4 53 1.23904e-05 1.62503e-05 0.000602 1 0 ALDH1B1 219 broad.mit.edu 37 9 38395746 38395746 + Missense_Mutation SNP A A T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr9:38395746A>T uc004aay.2 + 2 113 c.1A>T c.(1-3)ATG>TTG p.M1L NM_000692 NP_000683 P30837 AL1B1_HUMAN aldehyde dehydrogenase 1B1 precursor 1 carbohydrate metabolic process mitochondrial matrix|nucleus aldehyde dehydrogenase (NAD) activity skin(1) 1 GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115) NADH(DB00157) GAGTGTCAGCATGCTGCGCTT 0.607 NA 6 39 0 0 0.001168 0 0 C9orf71 169693 broad.mit.edu 37 9 71152289 71152289 + Silent SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr9:71152289G>A uc004agt.2 - 2 452 c.399C>T c.(397-399)TTC>TTT p.F133F uc004ags.1_RNA NM_153237 NP_694969 Q8N6L7 CI071_HUMAN hypothetical protein LOC169693 133 integral to membrane 0 TTCCATCCTGGAATTCCAGGC 0.557 NA 4 41 0 0 0.000248 0 0 PRUNE2 158471 broad.mit.edu 37 9 79318740 79318740 + Missense_Mutation SNP T T A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr9:79318740T>A uc010mpk.2 - 9 7913 c.7789A>T c.(7789-7791)ACA>TCA p.T2597S PRUNE2_uc004akj.3_Missense_Mutation_p.T50S|PRUNE2_uc010mpl.1_Missense_Mutation_p.T50S NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN prune homolog 2 2597 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity 0 GGCTGACATGTGTCTGGGAAG 0.428 NA 21 81 0 0 0.001882 0 0 PRUNE2 158471 broad.mit.edu 37 9 79323683 79323683 + Silent SNP C C T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr9:79323683C>T uc010mpk.2 - 8 3631 c.3507G>A c.(3505-3507)GTG>GTA p.V1169V NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN prune homolog 2 1169 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity 0 CCAGCTGTCTCACTGTAAATC 0.552 NA 34 69 0 0 0.004289 0 0 PRUNE2 158471 broad.mit.edu 37 9 79325100 79325100 + Missense_Mutation SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr9:79325100C>G uc010mpk.2 - 8 2214 c.2090G>C c.(2089-2091)AGA>ACA p.R697T NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN prune homolog 2 697 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity 0 ATCTGAGGCTCTCCTATCAAT 0.443 NA 11 23 0 0 0.001368 0 0 VPS13A 23230 broad.mit.edu 37 9 79933397 79933397 + Missense_Mutation SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr9:79933397G>A uc004akr.2 + 41 5463 c.5203G>A c.(5203-5205)GCT>ACT p.A1735T VPS13A_uc004akp.3_Missense_Mutation_p.A1735T|VPS13A_uc004akq.3_Missense_Mutation_p.A1735T|VPS13A_uc004aks.2_Missense_Mutation_p.A1696T|VPS13A_uc004akt.2_Missense_Mutation_p.A75T|VPS13A_uc010mpo.1_Missense_Mutation_p.A331T NM_033305 NP_150648 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13A isoform A 1735 Golgi to endosome transport|protein transport intracellular protein binding pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1) 10 AGTTCTTGAGGCTGGAATTGG 0.383 NA 17 69 0 0 0.00499 0 0 FLJ46321 389763 broad.mit.edu 37 9 84609893 84609893 + Missense_Mutation SNP A A T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr9:84609893A>T uc004amn.2 + 4 4555 c.4508A>T c.(4507-4509)GAG>GTG p.E1503V NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN hypothetical protein LOC389763 1503 integral to membrane 0 CAGAAAGTTGAGGCATTTAAG 0.502 NA 5 37 0 0 0.000602 0 0 RASEF 158158 broad.mit.edu 37 9 85615413 85615413 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr9:85615413C>A uc004amo.1 - 11 1771 c.1510G>T c.(1510-1512)GGG>TGG p.G504W NM_152573 NP_689786 Q8IZ41 RASEF_HUMAN RAS and EF-hand domain containing 504 protein transport|small GTPase mediated signal transduction perinuclear region of cytoplasm calcium ion binding|GTP binding upper_aerodigestive_tract(1)|lung(1)|breast(1) 3 CTAACAGACCCTTGGGGCTTC 0.448 NA 18 57 3.32936e-07 4.72157e-07 0.006122 1 0 FAM75C1 441452 broad.mit.edu 37 9 90536463 90536463 + Silent SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr9:90536463G>T uc010mqi.2 + 4 1670 c.1641G>T c.(1639-1641)GGG>GGT p.G547G FAM75C1_uc004apq.3_Silent_p.G530G NM_001145124 NP_001138596 family with sequence similarity 75, member C1 0 AGGTTCTGGGGGCGACCTCTG 0.512 NA 19 111 0.000132079 0.000163035 0.001216 1 0 ROR2 4920 broad.mit.edu 37 9 94486419 94486419 + Missense_Mutation SNP T T C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr9:94486419T>C uc004arj.1 - 9 2556 c.2357A>G c.(2356-2358)TAC>TGC p.Y786C ROR2_uc004ari.1_Intron NM_004560 NP_004551 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 786 Cytoplasmic (Potential).|Pro-rich. negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1) 20 GGGCCCCACGTAGCGGGCGTT 0.657 NA 21 39 0 0 0.002299 0 0 COL15A1 1306 broad.mit.edu 37 9 101802814 101802814 + Silent SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr9:101802814G>A uc004azb.1 + 23 2693 c.2487G>A c.(2485-2487)GGG>GGA p.G829G NM_001855 NP_001846 P39059 COFA1_HUMAN alpha 1 type XV collagen precursor 829 Triple-helical region 4 (COL4). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding ovary(6) 6 Acute lymphoblastic leukemia(62;0.0562) GGCCGGACGGGTTGCCTGGGC 0.582 NA 16 86 0 0 0.004007 0 0 ERP44 23071 broad.mit.edu 37 9 102769949 102769949 + Missense_Mutation SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr9:102769949G>A uc004bam.2 - 9 993 c.785C>T c.(784-786)CCT>CTT p.P262L ERP44_uc010msy.2_RNA|ERP44_uc010msz.2_Missense_Mutation_p.P262L NM_015051 NP_055866 Q9BS26 ERP44_HUMAN thioredoxin domain containing 4 (endoplasmic 262 Interaction with ITPR1 (By similarity). cell redox homeostasis|glycoprotein metabolic process|protein folding|response to unfolded protein endoplasmic reticulum lumen|endoplasmic reticulum membrane|ER-Golgi intermediate compartment protein binding|protein disulfide isomerase activity 0 TATGAGAAAAGGCAGTCCTTC 0.348 NA 18 59 0 0 0.006122 0 0 C9orf84 158401 broad.mit.edu 37 9 114484859 114484859 + Missense_Mutation SNP T T A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr9:114484859T>A uc004bfr.2 - 13 1904 c.1769A>T c.(1768-1770)CAG>CTG p.Q590L C9orf84_uc011lwt.1_RNA|C9orf84_uc004bfq.2_Missense_Mutation_p.Q551L|C9orf84_uc010mug.2_Missense_Mutation_p.Q536L NM_173521 NP_775792 Q5VXU9 CI084_HUMAN hypothetical protein LOC158401 isoform 1 590 ovary(2) 2 TGCTTGGCACTGGCTATCTGC 0.388 NA 8 28 0 0 0.00308 0 0 PRPF4 9128 broad.mit.edu 37 9 116044941 116044941 + Silent SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr9:116044941C>G uc004bgx.2 + 4 461 c.411C>G c.(409-411)CTC>CTG p.L137L PRPF4_uc004bgy.2_Silent_p.L136L NM_004697 NP_004688 O43172 PRP4_HUMAN PRP4 pre-mRNA processing factor 4 homolog 137 Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP protein binding ovary(2)|pancreas(1) 3 GAAATATCCTCTCAGTTGTCG 0.303 NA 3 38 0 0 0.000602 0 0 TLR4 7099 broad.mit.edu 37 9 120470943 120470943 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr9:120470943C>A uc004bjz.2 + 2 487 c.196C>A c.(196-198)CTG>ATG p.L66M TLR4_uc004bka.2_Missense_Mutation_p.L26M|TLR4_uc004bkb.2_Intron NM_138554 NP_612564 O00206 TLR4_HUMAN toll-like receptor 4 precursor 66 LRR 1.|Extracellular (Potential). activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity lung(10)|ovary(4)|breast(1)|skin(1) 16 CTTTAATCCCCTGAGGCATTT 0.443 NA 52 121 4.17463e-26 8.25703e-26 0.00361 1 0 OR1N2 138882 broad.mit.edu 37 9 125316353 125316353 + Missense_Mutation SNP T T A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr9:125316353T>A uc011lyx.1 + 1 905 c.905T>A c.(904-906)CTA>CAA p.L302Q NM_001004457 NP_001004457 Q8NGR9 OR1N2_HUMAN olfactory receptor, family 1, subfamily N, 302 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(2) 4 ATTCCCACGCTAAACCCATTC 0.393 NA 8 69 0 0 0.006214 0 0 NR6A1 2649 broad.mit.edu 37 9 127300495 127300495 + Missense_Mutation SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr9:127300495C>G uc004bor.1 - 6 878 c.700G>C c.(700-702)GGC>CGC p.G234R NR6A1_uc004boq.1_Missense_Mutation_p.G229R|NR6A1_uc010mwq.1_Missense_Mutation_p.G230R NM_033334 NP_201591 Q15406 NR6A1_HUMAN nuclear receptor subfamily 6, group A, member 1 234 Sufficient for interaction with UIMC1 (By similarity). cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis transcription factor complex protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(3) 3 GGTGAGTGGCCAGAATAGCTA 0.507 Esophageal Squamous(192;272 2884 6208 20560) NA 9 55 0 0 0.006214 0 0 SH2D3C 10044 broad.mit.edu 37 9 130511506 130511506 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr9:130511506C>A uc004bsc.2 - 5 1265 c.1123G>T c.(1123-1125)GAT>TAT p.D375Y SH2D3C_uc010mxo.2_Missense_Mutation_p.D215Y|SH2D3C_uc004bry.2_Missense_Mutation_p.D217Y|SH2D3C_uc004brz.3_Missense_Mutation_p.D21Y|SH2D3C_uc011mak.1_Missense_Mutation_p.D21Y|SH2D3C_uc004bsa.2_Missense_Mutation_p.D218Y|SH2D3C_uc004bsb.2_Missense_Mutation_p.D307Y NM_170600 NP_733745 Q8N5H7 SH2D3_HUMAN SH2 domain containing 3C isoform a 375 JNK cascade|small GTPase mediated signal transduction cytoplasm|membrane guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity ovary(1) 1 GGGCAGCCATCGCTGCGGGTG 0.607 NA 5 51 3.59834e-05 4.57629e-05 0.001168 1 0 NUP188 23511 broad.mit.edu 37 9 131715112 131715112 + Missense_Mutation SNP T T C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr9:131715112T>C uc004bws.1 + 3 170 c.148T>C c.(148-150)TAC>CAC p.Y50H NUP188_uc004bwq.1_Missense_Mutation_p.Y52H NM_015354 NP_056169 Q5SRE5 NU188_HUMAN nucleoporin 188kDa 50 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1) 7 GCTTTCTTACTACAAACCTCC 0.403 NA 3 81 0 0 0.004672 0 0 LAMC3 10319 broad.mit.edu 37 9 133911562 133911562 + Nonsense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr9:133911562C>A uc004caa.1 + 4 917 c.819C>A c.(817-819)TGC>TGA p.C273* NM_006059 NP_006050 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 precursor 273 Laminin EGF-like 1. cell adhesion basement membrane|membrane structural molecule activity ovary(2)|pancreas(1) 3 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) GGTGCAAGTGCAACGGGCATG 0.652 NA 7 61 0.00621372 0.00712032 0.006214 1 0 SETX 23064 broad.mit.edu 37 9 135158694 135158694 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr9:135158694C>A uc004cbk.2 - 19 6686 c.6503G>T c.(6502-6504)CGT>CTT p.R2168L SETX_uc004cbj.2_Missense_Mutation_p.R1787L|SETX_uc010mzt.2_Missense_Mutation_p.R1787L NM_015046 NP_055861 Q7Z333 SETX_HUMAN senataxin 2168 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) CCCTTGCCCACGGAAAGCAGA 0.478 NA 7 57 8.12818e-05 0.000101263 0.001984 1 0 SETX 23064 broad.mit.edu 37 9 135203189 135203189 + Missense_Mutation SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr9:135203189G>A uc004cbk.2 - 10 3979 c.3796C>T c.(3796-3798)CCT>TCT p.P1266S SETX_uc004cbj.2_Missense_Mutation_p.P885S|SETX_uc010mzt.2_Missense_Mutation_p.P885S NM_015046 NP_055861 Q7Z333 SETX_HUMAN senataxin 1266 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) ACTATAGCAGGAGTTGTTCTA 0.418 NA 10 161 0 0 0.000978 0 0 TTF1 7270 broad.mit.edu 37 9 135277138 135277138 + Silent SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr9:135277138G>A uc004cbl.2 - 2 1123 c.1071C>T c.(1069-1071)TAC>TAT p.Y357Y TTF1_uc011mcp.1_RNA|TTF1_uc004cbm.2_Intron NM_007344 NP_031370 Q15361 TTF1_HUMAN transcription termination factor, RNA polymerase 357 negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription nucleolus|nucleoplasm DNA binding ovary(2)|upper_aerodigestive_tract(1)|pancreas(1) 4 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05) ATCCTTCAGGGTATGCACTCT 0.458 NA 8 105 0 0 0.00308 0 0 COL5A1 1289 broad.mit.edu 37 9 137688228 137688228 + Silent SNP C C T rs142849628 TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr9:137688228C>T uc004cfe.2 + 35 3190 c.2808C>T c.(2806-2808)TCC>TCT p.S936S NM_000093 NP_000084 P20908 CO5A1_HUMAN alpha 1 type V collagen preproprotein 936 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1) 11 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) AGGGCAACTCCGGAGGTGACG 0.572 NA 7 63 0 0 0.001984 0 0 FUT7 2529 broad.mit.edu 37 9 139925532 139925532 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr9:139925532G>T uc004ckq.2 - 2 1508 c.659C>A c.(658-660)GCC>GAC p.A220D ABCA2_uc011mel.1_5'Flank|ABCA2_uc011mem.1_5'Flank|ABCA2_uc004ckl.1_5'Flank|ABCA2_uc004ckm.1_5'Flank|C9orf139_uc004ckp.1_Intron NM_004479 NP_004470 Q11130 FUT7_HUMAN fucosyltransferase 7 220 Lumenal (Potential). L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity 0 all_cancers(76;0.0893) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486) GCGGTACTGGGCCACGGTGGG 0.627 NA 25 170 6.32553e-13 1.08773e-12 0.004656 1 0 COBRA1 25920 broad.mit.edu 37 9 140151353 140151353 + Missense_Mutation SNP G G C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr9:140151353G>C uc004cmm.3 + 4 647 c.444G>C c.(442-444)CAG>CAC p.Q148H NM_015456 NP_056271 Q8WX92 NELFB_HUMAN cofactor of BRCA1 148 negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction cytoplasm|nucleoplasm protein binding 0 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.137) OV - Ovarian serous cystadenocarcinoma(145;9.42e-05)|Epithelial(140;0.000766) TGAAGCGGCAGATCTGGCAAG 0.562 NA 4 42 0 0 0.000248 0 0 PNPLA7 375775 broad.mit.edu 37 9 140395241 140395241 + Silent SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr9:140395241C>A uc004cnf.2 - 15 1921 c.1584G>T c.(1582-1584)GTG>GTT p.V528V C9orf167_uc011mew.1_Intron|PNPLA7_uc011mfa.1_Intron|PNPLA7_uc010ncj.1_Silent_p.V553V NM_152286 NP_689499 Q6ZV29 PLPL7_HUMAN patatin-like phospholipase domain containing 7 528 cNMP 2. lipid metabolic process endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane hydrolase activity skin(1) 1 all_cancers(76;0.126) OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839) CCAGCTGGCCCACCATCTCCC 0.632 NA 9 22 0.000274275 0.000331549 0.004482 1 0 EHMT1 79813 broad.mit.edu 37 9 140637960 140637960 + Missense_Mutation SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr9:140637960C>G uc011mfc.1 + 5 998 c.961C>G c.(961-963)CAT>GAT p.H321D EHMT1_uc004coa.2_Missense_Mutation_p.H321D|EHMT1_uc004cob.1_Missense_Mutation_p.H290D|EHMT1_uc010ncn.1_RNA NM_024757 NP_079033 Q9H9B1 EHMT1_HUMAN euchromatic histone-lysine N-methyltransferase 1 321 DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding breast(2)|pancreas(1) 3 all_cancers(76;0.164) OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728) GAGCATAACTCATTCCACTGT 0.428 NA 9 46 0 0 0.004482 0 0 MXRA5 25878 broad.mit.edu 37 X 3239969 3239969 + Missense_Mutation SNP A A T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chrX:3239969A>T uc004crg.3 - 5 3914 c.3757T>A c.(3757-3759)TCC>ACC p.S1253T NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN adlican precursor 1253 extracellular region ovary(5)|lung(1)|central_nervous_system(1)|skin(1) 8 all_lung(23;0.00031)|Lung NSC(23;0.000946) TTGGATCCGGACGCTCTTGAG 0.453 NA 44 121 0 0 0.002222 0 0 SHROOM2 357 broad.mit.edu 37 X 9863246 9863246 + Missense_Mutation SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chrX:9863246G>A uc004csu.1 + 4 1388 c.1298G>A c.(1297-1299)AGC>AAC p.S433N NM_001649 NP_001640 Q13796 SHRM2_HUMAN apical protein of Xenopus-like 433 apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization apical plasma membrane|cell-cell adherens junction|microtubule|tight junction actin filament binding|beta-catenin binding|ligand-gated sodium channel activity ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1) 8 Hepatocellular(5;0.000888) CCCCTATACAGCGACCACAGC 0.632 NA 20 43 0 0 0.002299 0 0 OFD1 8481 broad.mit.edu 37 X 13764935 13764935 + Missense_Mutation SNP A A G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chrX:13764935A>G uc004cvp.3 + 8 1050 c.691A>G c.(691-693)AAA>GAA p.K231E OFD1_uc004cvr.3_5'UTR|OFD1_uc011mil.1_5'UTR|OFD1_uc004cvq.3_Missense_Mutation_p.K91E|OFD1_uc010nen.2_Missense_Mutation_p.K230E|OFD1_uc004cvs.3_RNA|OFD1_uc004cvu.3_Missense_Mutation_p.K230E|OFD1_uc004cvv.3_Missense_Mutation_p.K230E|OFD1_uc010neo.1_Missense_Mutation_p.K17E NM_003611 NP_003602 O75665 OFD1_HUMAN oral-facial-digital syndrome 1 231 Potential. cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle centriole|cilium|cytosol|microtubule basal body|nuclear membrane alpha-tubulin binding|gamma-tubulin binding 0 AGCAAAAATTAAAATGGAAGC 0.299 NA 14 27 0 0 0.003163 0 0 RPS6KA3 6197 broad.mit.edu 37 X 20212340 20212340 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chrX:20212340C>A uc004czu.2 - 6 453 c.453G>T c.(451-453)AGG>AGT p.R151S RPS6KA3_uc011mjk.1_Missense_Mutation_p.R122S|RPS6KA3_uc004czv.2_Missense_Mutation_p.R139S|RPS6KA3_uc011mjl.1_Missense_Mutation_p.R123S|RPS6KA3_uc011mjm.1_Missense_Mutation_p.R123S NM_004586 NP_004577 P51812 KS6A3_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 151 Protein kinase 1. axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|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|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity central_nervous_system(4)|stomach(1)|ovary(1)|lung(1)|breast(1) 8 AATCTCCTCCCCTGAGAAAAT 0.299 NA 14 24 3.41278e-10 5.4499e-10 0.00499 1 0 PHEX 5251 broad.mit.edu 37 X 22112188 22112188 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chrX:22112188G>T uc004dah.2 + 7 1023 c.820G>T c.(820-822)GTG>TTG p.V274L PHEX_uc011mjr.1_Missense_Mutation_p.V274L|PHEX_uc011mjs.1_Missense_Mutation_p.V177L NM_000444 NP_000435 P78562 PHEX_HUMAN phosphate-regulating neutral endopeptidase 274 Extracellular (Potential). biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development integral to plasma membrane aminopeptidase activity|metalloendopeptidase activity|zinc ion binding ovary(2)|lung(1) 3 CATGAAGTCAGTGCTCAGATT 0.318 NA 20 42 1.56452e-12 2.64963e-12 0.007413 1 0 MAGEB4 4115 broad.mit.edu 37 X 30260943 30260943 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chrX:30260943G>T uc004dcb.2 + 1 775 c.691G>T c.(691-693)GAT>TAT p.D231Y MAGEB1_uc004dcc.2_5'Flank|MAGEB1_uc004dcd.2_5'Flank NM_002367 NP_002358 O15481 MAGB4_HUMAN melanoma antigen family B, 4 231 MAGE. ovary(1) 1 GGGGATCTATGATGGAAAGAG 0.473 NA 21 63 2.37509e-13 4.13716e-13 0.001523 1 0 FAM47A 158724 broad.mit.edu 37 X 34150261 34150261 + Silent SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chrX:34150261G>T uc004ddg.2 - 1 168 c.135C>A c.(133-135)ACC>ACA p.T45T NM_203408 NP_981953 Q5JRC9 FA47A_HUMAN hypothetical protein LOC158724 45 ovary(4)|central_nervous_system(1) 5 CCCAGTTCTGGGTGTCCATGG 0.577 NA 15 36 6.31663e-08 9.24099e-08 0.003163 1 0 FAM47C 442444 broad.mit.edu 37 X 37026780 37026780 + Missense_Mutation SNP G G C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chrX:37026780G>C uc004ddl.1 + 1 311 c.297G>C c.(295-297)AAG>AAC p.K99N NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN hypothetical protein LOC442444 99 ovary(3) 3 AGCTGCTCAAGAAAGCGGCCC 0.532 NA 35 74 0 0 0.003271 0 0 FAM47C 442444 broad.mit.edu 37 X 37027491 37027491 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chrX:37027491G>T uc004ddl.1 + 1 1022 c.1008G>T c.(1006-1008)AAG>AAT p.K336N NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN hypothetical protein LOC442444 336 ovary(3) 3 AGCCTCCCAAGACTCTGGTGT 0.617 NA 25 55 3.6726e-16 6.71062e-16 0.003954 1 0 SSX1 6756 broad.mit.edu 37 X 48125747 48125747 + Missense_Mutation SNP G G C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chrX:48125747G>C uc004djb.1 + 7 583 c.492G>C c.(490-492)TGG>TGC p.W164C NM_005635 NP_005626 Q16384 SSX1_HUMAN synovial sarcoma, X breakpoint 1 164 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|transcription corepressor activity SS18/SSX1(1169) soft_tissue(1169) 1169 AACATGCCTGGACCCACAGAC 0.483 Esophageal Squamous(175;994 1982 2214 6527 18857) NA 10 298 0 0 0.000978 0 0 CACNA1F 778 broad.mit.edu 37 X 49070315 49070315 + Silent SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chrX:49070315C>A uc004dnb.2 - 31 3851 c.3789G>T c.(3787-3789)GTG>GTT p.V1263V CACNA1F_uc010nip.2_Silent_p.V1252V NM_005183 NP_005174 O60840 CAC1F_HUMAN calcium channel, voltage-dependent, L type, 1263 IV.|Helical; Name=S3 of repeat IV; (Potential). axon guidance|detection of light stimulus involved in visual perception voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity breast(3)|ovary(1)|kidney(1)|skin(1) 6 Verapamil(DB00661) CTATGCTGCCCACCACAATAA 0.512 NA 11 28 1.58986e-06 2.20122e-06 0.008291 1 0 DGKK 139189 broad.mit.edu 37 X 50136178 50136178 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chrX:50136178C>A uc010njr.1 - 9 1627 c.1567G>T c.(1567-1569)GAC>TAC p.D523Y NM_001013742 NP_001013764 Q5KSL6 DGKK_HUMAN diacylglycerol kinase kappa 523 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(1)|kidney(1) 2 Ovarian(276;0.236) TTCAATAAGTCGAACACTTGA 0.433 NA 4 13 1.024e-07 1.49157e-07 0.000602 1 0 GPR173 54328 broad.mit.edu 37 X 53106005 53106005 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chrX:53106005G>T uc004dru.2 + 2 460 c.202G>T c.(202-204)GAT>TAT p.D68Y NM_018969 NP_061842 Q9NS66 GP173_HUMAN G protein-coupled receptor 173 68 Helical; Name=2; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity skin(1) 1 GTGCCTGGCCGATGGCATACG 0.602 NA 22 45 4.35082e-09 6.72399e-09 0.001523 1 0 FAM120C 54954 broad.mit.edu 37 X 54161374 54161374 + Silent SNP A A G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chrX:54161374A>G uc004dsz.3 - 7 1589 c.1506T>C c.(1504-1506)TCT>TCC p.S502S FAM120C_uc011moh.1_Silent_p.S502S NM_017848 NP_060318 Q9NX05 F120C_HUMAN hypothetical protein LOC54954 502 ovary(1)|central_nervous_system(1) 2 ACTGGGATGCAGAAGAGTCAT 0.517 NA 13 28 0 0 0.001855 0 0 FGD1 2245 broad.mit.edu 37 X 54497780 54497780 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chrX:54497780G>T uc004dtg.2 - 2 1182 c.448C>A c.(448-450)CCA>ACA p.P150T FGD1_uc011moi.1_5'Flank NM_004463 NP_004454 P98174 FGD1_HUMAN faciogenital dysplasia protein 150 Pro-rich. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(3)|skin(2)|central_nervous_system(1) 6 CGCTTCAGTGGTGAAGGACGC 0.627 NA 19 43 5.26018e-13 9.08023e-13 0.001882 1 0 LAS1L 81887 broad.mit.edu 37 X 64734730 64734730 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chrX:64734730C>A uc004dwa.1 - 13 2123 c.2051G>T c.(2050-2052)CGG>CTG p.R684L LAS1L_uc004dwc.1_Missense_Mutation_p.R667L|LAS1L_uc004dwd.1_Missense_Mutation_p.R625L|LAS1L_uc004dvy.1_Missense_Mutation_p.R197L|LAS1L_uc004dvz.1_Missense_Mutation_p.R197L NM_031206 NP_112483 Q9Y4W2 LAS1L_HUMAN LAS1-like 684 MLL1 complex|nucleolus protein binding ovary(3)|large_intestine(1) 4 GGGTTCCAGCCGCTGCTCTAG 0.557 NA 6 9 3.59834e-05 4.57629e-05 0.001168 1 0 MSN 4478 broad.mit.edu 37 X 64949300 64949300 + Missense_Mutation SNP G G C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chrX:64949300G>C uc004dwf.2 + 4 391 c.193G>C c.(193-195)GTG>CTG p.V65L NM_002444 NP_002435 P26038 MOES_HUMAN moesin 65 FERM. leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton MSN/ALK(6) haematopoietic_and_lymphoid_tissue(6)|ovary(3)|lung(1) 10 CTCTTCCCAGGTGACTGCCCA 0.478 NA T ALK ALCL 14 70 0 0 0.004007 0 0 EDA2R 60401 broad.mit.edu 37 X 65819692 65819692 + Silent SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chrX:65819692C>A uc004dwq.2 - 5 539 c.528G>T c.(526-528)CTG>CTT p.L176L EDA2R_uc004dwr.2_Silent_p.L176L|EDA2R_uc004dws.2_Silent_p.L176L|EDA2R_uc011mpb.1_RNA|EDA2R_uc011mpc.1_Silent_p.L52L|EDA2R_uc010nkt.1_Silent_p.L176L|EDA2R_uc004dwt.1_Silent_p.L197L NM_021783 NP_068555 Q9HAV5 TNR27_HUMAN X-linked ectodysplasin receptor 176 Cytoplasmic (Potential). cell differentiation|embryo development|epidermis development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity integral to plasma membrane tumor necrosis factor receptor activity upper_aerodigestive_tract(1) 1 CCTCAAACTGCAGCAAACCTC 0.522 NA 12 16 1.05317e-09 1.65622e-09 0.00245 1 0 AR 367 broad.mit.edu 37 X 66937402 66937402 + Missense_Mutation SNP G G C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chrX:66937402G>C uc004dwu.1 + 5 3371 c.2256G>C c.(2254-2256)TGG>TGC p.W752C AR_uc004dwv.1_Missense_Mutation_p.W220C NM_000044 NP_000035 P10275 ANDR_HUMAN androgen receptor isoform 1 751 Ligand-binding.|Interaction with MYST2. W -> R (in AIS). cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport cytoplasm|nuclear chromatin|nucleoplasm androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding ovary(3)|lung(2)|breast(2)|central_nervous_system(1) 8 all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102) all_lung(315;1.3e-11) Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624) CCATGGGCTGGCGATCCTTCA 0.532 NA Androgen_Insensitivity_Syndrome 11 34 0 0 0.001368 0 0 NLGN3 54413 broad.mit.edu 37 X 70387517 70387517 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chrX:70387517G>T uc004dzd.1 + 6 1770 c.1570G>T c.(1570-1572)GGG>TGG p.G524W NLGN3_uc010nlb.1_Missense_Mutation_p.G484W|NLGN3_uc004dzb.2_Missense_Mutation_p.G504W|NLGN3_uc004dzc.2_Missense_Mutation_p.G387W|NLGN3_uc011mps.1_Missense_Mutation_p.G484W|NLGN3_uc004dze.2_Missense_Mutation_p.G322W NM_018977 NP_061850 Q9NZ94 NLGN3_HUMAN neuroligin 3 524 Extracellular (Potential). neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly cell surface|endocytic vesicle|integral to plasma membrane|synapse neurexin binding|receptor activity ovary(1) 1 Renal(35;0.156) TGCAGCTCATGGGGATGAAGT 0.527 Esophageal Squamous(103;760 1488 16849 22250 40351) NA 20 87 8.34094e-07 1.16323e-06 0.001216 1 0 RGAG4 340526 broad.mit.edu 37 X 71351060 71351060 + Missense_Mutation SNP G G C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chrX:71351060G>C uc010nlh.1 - 1 692 c.331C>G c.(331-333)CGC>GGC p.R111G NHSL2_uc011mqa.1_Intron|RGAG4_uc004eaj.1_RNA|NHSL2_uc004eak.1_5'Flank|NHSL2_uc010nli.2_5'Flank NM_001024455 NP_001019626 Q5HYW3 RGAG4_HUMAN retrotransposon gag domain containing 4 111 ovary(2)|skin(1) 3 Renal(35;0.156) GGGGTGCTGCGATCCTGGATC 0.692 NA 3 11 0 0 0.004672 0 0 NAP1L2 4674 broad.mit.edu 37 X 72433573 72433573 + Missense_Mutation SNP A A T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chrX:72433573A>T uc004ebi.2 - 1 1112 c.756T>A c.(754-756)GAT>GAA p.D252E NAP1L2_uc011mqj.1_Missense_Mutation_p.D110E NM_021963 NP_068798 Q9ULW6 NP1L2_HUMAN nucleosome assembly protein 1-like 2 252 nucleosome assembly chromatin assembly complex lung(1) 1 Renal(35;0.156) GAGTGAGTGTATCAACGTTTT 0.378 NA 4 46 0 0 0.000602 0 0 KIAA2022 340533 broad.mit.edu 37 X 73962851 73962851 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chrX:73962851C>A uc004eby.2 - 3 2158 c.1541G>T c.(1540-1542)GGT>GTT p.G514V NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN hypothetical protein LOC340533 514 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 CTCTTTGGAACCAACTGGCAG 0.398 NA 10 26 1.58986e-06 2.20122e-06 0.008291 1 0 MAGEE2 139599 broad.mit.edu 37 X 75003786 75003786 + Silent SNP A A T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chrX:75003786A>T uc004ecj.1 - 1 1286 c.1101T>A c.(1099-1101)TCT>TCA p.S367S NM_138703 NP_619648 Q8TD90 MAGE2_HUMAN melanoma antigen family E, 2 367 MAGE 2. ovary(1)|skin(1) 2 CCTCAATCAGAGACAACCCAT 0.458 NA 17 50 0 0 0.00499 0 0 ZCCHC5 203430 broad.mit.edu 37 X 77913554 77913554 + Nonsense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chrX:77913554C>A uc004edc.1 - 2 660 c.364G>T c.(364-366)GAG>TAG p.E122* NM_152694 NP_689907 Q8N8U3 ZCHC5_HUMAN zinc finger, CCHC domain containing 5 122 Pro-rich. nucleic acid binding|zinc ion binding ovary(1) 1 TTCTGGGACTCCCGGGTTGCT 0.627 NA 9 10 0.000274275 0.000331549 0.004482 1 0 TGIF2LX 90316 broad.mit.edu 37 X 89177312 89177312 + Silent SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chrX:89177312C>A uc004efe.2 + 2 277 c.228C>A c.(226-228)GCC>GCA p.A76A NM_138960 NP_620410 Q8IUE1 TF2LX_HUMAN TGFB-induced factor homeobox 2-like, X-linked 76 Homeobox; TALE-type. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 GGTTTAAGGCCTACCCTTCAG 0.468 NA 22 57 3.11337e-16 5.71211e-16 0.002836 1 0 ARMCX2 9823 broad.mit.edu 37 X 100910689 100910689 + Missense_Mutation SNP A A G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chrX:100910689A>G uc004eid.2 - 3 2241 c.1886T>C c.(1885-1887)GTG>GCG p.V629A ARMCX2_uc004eie.3_Missense_Mutation_p.V629A|ARMCX2_uc004eif.3_Missense_Mutation_p.V629A|ARMCX2_uc004eig.3_Missense_Mutation_p.V629A|ARMCX2_uc010nnt.2_Missense_Mutation_p.V629A NM_177949 NP_808818 Q7L311 ARMX2_HUMAN ALEX2 protein 629 integral to membrane binding ovary(6) 6 GAATTTGTTCACTAGTTTTAT 0.249 NA 15 67 0 0 0.003163 0 0 NXF5 55998 broad.mit.edu 37 X 101096947 101096947 + Splice_Site SNP T T A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chrX:101096947T>A uc011mrk.1 - 4 412 c.52_splice c.e4-1 p.I18_splice NXF5_uc004eih.1_Splice_Site|NXF5_uc004eii.1_Splice_Site|NXF5_uc004eij.1_Splice_Site|NXF5_uc004eik.1_Intron|NXF5_uc004eil.1_Intron NM_032946 NP_116564 Q9H1B4 NXF5_HUMAN nuclear RNA export factor 5 mRNA export from nucleus|multicellular organismal development actin cytoskeleton|cytoplasm|nucleus nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding central_nervous_system(1) 1 ATAAGGAATCTAAGCATAAAA 0.398 NA 38 62 0 0 0.003755 0 0 H2BFWT 158983 broad.mit.edu 37 X 103267967 103267967 + Missense_Mutation SNP A A T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chrX:103267967A>T uc004elr.2 - 1 290 c.266T>A c.(265-267)CTG>CAG p.L89Q NM_001002916 NP_001002916 Q7Z2G1 H2BWT_HUMAN H2B histone family, member W, testis-specific 89 nucleosome assembly nuclear membrane|nucleosome DNA binding ovary(1) 1 AACCTGCTTCAGCACCCGGCG 0.627 NA 6 40 0 0 0.001984 0 0 COL4A6 1288 broad.mit.edu 37 X 107407909 107407909 + Silent SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chrX:107407909G>A uc004enw.3 - 40 4096 c.3993C>T c.(3991-3993)GGC>GGT p.G1331G COL4A6_uc004env.3_Silent_p.G1330G|COL4A6_uc011msn.1_Silent_p.G1306G|COL4A6_uc010npk.2_Intron|COL4A6_uc010npj.2_5'Flank NM_001847 NP_001838 Q14031 CO4A6_HUMAN type IV alpha 6 collagen isoform A precursor 1331 Triple-helical region. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding ovary(6)|urinary_tract(1)|large_intestine(1) 8 TCCCCATGAAGCCAGGCTCAC 0.597 Melanoma(87;1895 1945 2589 7165) NA Alport_syndrome_with_Diffuse_Leiomyomatosis 23 36 0 0 0.00278 0 0 CAPN6 827 broad.mit.edu 37 X 110490691 110490691 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chrX:110490691C>A uc004epc.1 - 12 1816 c.1648G>T c.(1648-1650)GTC>TTC p.V550F CAPN6_uc011msu.1_Missense_Mutation_p.V295F NM_014289 NP_055104 Q9Y6Q1 CAN6_HUMAN calpain 6 550 C2. microtubule bundle formation|proteolysis|regulation of cytoskeleton organization perinuclear region of cytoplasm|spindle microtubule calcium-dependent cysteine-type endopeptidase activity|microtubule binding ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|skin(1) 6 GGAGAACGGACTTCCTCCTTT 0.393 NA 23 60 2.89027e-11 4.77445e-11 0.002299 1 0 ODZ1 10178 broad.mit.edu 37 X 123838989 123838989 + Nonsense_Mutation SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chrX:123838989G>A uc004euj.2 - 5 953 c.889C>T c.(889-891)CGA>TGA p.R297* ODZ1_uc011muj.1_Nonsense_Mutation_p.R297*|ODZ1_uc010nqy.2_Nonsense_Mutation_p.R297* NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 297 Teneurin N-terminal.|Cytoplasmic (Potential). immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 23 AAGGTGCTTCGAGGAAGAGGC 0.522 NA 10 149 0 0 0.008291 0 0 ODZ1 10178 broad.mit.edu 37 X 123839041 123839041 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chrX:123839041G>T uc004euj.2 - 5 901 c.837C>A c.(835-837)AAC>AAA p.N279K ODZ1_uc011muj.1_Missense_Mutation_p.N279K|ODZ1_uc010nqy.2_Missense_Mutation_p.N279K NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 279 Teneurin N-terminal.|Cytoplasmic (Potential). immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 23 TCAGAGGGTAGTTCTGACTGG 0.483 NA 34 84 3.67414e-24 7.19296e-24 0.002445 1 0 OCRL 4952 broad.mit.edu 37 X 128692884 128692884 + Missense_Mutation SNP T T C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chrX:128692884T>C uc004euq.2 + 8 793 c.628T>C c.(628-630)TTT>CTT p.F210L OCRL_uc004eur.2_Missense_Mutation_p.F210L NM_000276 NP_000267 Q01968 OCRL_HUMAN phosphatidylinositol polyphosphate 5-phosphatase 210 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding lung(2)|ovary(1)|kidney(1) 4 GCGGAAGCTCTTTGTACCAAA 0.428 NA 20 46 0 0 0.001882 0 0 FGF13 2258 broad.mit.edu 37 X 137715014 137715014 + Silent SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chrX:137715014C>A uc004fam.2 - 5 1397 c.735G>T c.(733-735)ACG>ACT p.T245T FGF13_uc004fan.2_Silent_p.T192T|FGF13_uc011mwi.1_Silent_p.T226T|FGF13_uc004faq.2_Silent_p.T255T|FGF13_uc004far.2_Silent_p.T226T|FGF13_uc011mwj.1_Silent_p.T255T|FGF13_uc011mwk.1_Silent_p.T199T NM_004114 NP_004105 Q92913 FGF13_HUMAN fibroblast growth factor 13 isoform 1 245 cell-cell signaling|MAPKKK cascade|nervous system development cytoplasm|nucleus growth factor activity|protein kinase activator activity ovary(1)|large_intestine(1)|breast(1) 3 Acute lymphoblastic leukemia(192;0.000127) TCACTGGCTACGTTGATTCAT 0.502 NA 50 120 4.29476e-34 8.59592e-34 0.00361 1 0 SLITRK4 139065 broad.mit.edu 37 X 142718335 142718335 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chrX:142718335C>A uc004fbx.2 - 2 966 c.590G>T c.(589-591)GGG>GTG p.G197V SLITRK4_uc004fby.2_Missense_Mutation_p.G197V NM_173078 NP_775101 Q8IW52 SLIK4_HUMAN slit and trk like 4 protein precursor 197 Extracellular (Potential).|LRR 6. integral to membrane upper_aerodigestive_tract(1)|large_intestine(1) 2 Acute lymphoblastic leukemia(192;6.56e-05) TTCCAGAACCCCGATATAAGG 0.438 NA 26 48 1.85244e-09 2.88946e-09 0.00333 1 0 TREX2 11219 broad.mit.edu 37 X 152710395 152710395 + Missense_Mutation SNP C C A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chrX:152710395C>A uc010nue.1 - 3 736 c.620G>T c.(619-621)CGG>CTG p.R207L TREX2_uc010nud.1_Missense_Mutation_p.R165L|TREX2_uc011myp.1_Missense_Mutation_p.R165L|HAUS7_uc004fhl.2_RNA|HAUS7_uc004fhm.2_RNA NM_080701 NP_542432 Q9BQ50 TREX2_HUMAN three prime repair exonuclease 2 208 DNA repair nucleus 3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|nucleic acid binding large_intestine(1) 1 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CTGGCGGCCCCGGGCCCGGGT 0.756 NA Editing_and_processing_nucleases 3 11 0.004672 0.00538583 0.004672 1 0 GAB3 139716 broad.mit.edu 37 X 153941501 153941501 + Missense_Mutation SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chrX:153941501C>G uc004fmj.1 - 3 622 c.574G>C c.(574-576)GGA>CGA p.G192R GAB3_uc004fmk.1_Missense_Mutation_p.G193R|GAB3_uc010nve.1_Missense_Mutation_p.G193R|GAB3_uc004fml.1_5'UTR NM_080612 NP_542179 Q8WWW8 GAB3_HUMAN Gab3 protein isoform 2 192 ovary(1) 1 all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) TGCAGTCTTCCAGTCTCGCAG 0.517 NA 3 87 0 0 0.004672 0 0 CDC7 8317 broad.mit.edu 37 1 91979544 91979544 + Frame_Shift_Del DEL G G - TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr1:91979544delG uc001doe.2 + 8 1027 c.862delG c.(862-864)GGAfs p.G288fs CDC7_uc001dof.2_Frame_Shift_Del_p.G288fs|CDC7_uc010osw.1_Frame_Shift_Del_p.G260fs|CDC7_uc009wdc.2_Frame_Shift_Del_p.G288fs|CDC7_uc009wdd.2_5'Flank NM_003503 NP_003494 O00311 CDC7_HUMAN cell division cycle 7 288 Protein kinase. cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase cytoplasm|nucleoplasm ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity stomach(2)|large_intestine(1)|ovary(1)|central_nervous_system(1) 5 all_lung(203;0.0165)|Lung NSC(277;0.0562) all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124) CTCTGTTTTTGGAGAAAGAAA 0.393 NA 14 43 --- --- --- --- NA NA NA NA NA ADARB2 105 broad.mit.edu 37 10 1405671 1405671 + Frame_Shift_Del DEL G G - TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr10:1405671delG uc009xhq.2 - 3 1003 c.629delC c.(628-630)ACGfs p.T210fs NM_018702 NP_061172 Q9NS39 RED2_HUMAN adenosine deaminase, RNA-specific, B2 210 T -> M (in a colorectal cancer sample; somatic mutation). mRNA processing mitochondrion|nucleus adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding p.T210M(1) large_intestine(2)|central_nervous_system(1) 3 all_epithelial(10;0.059)|Colorectal(49;0.0815) all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165) GGTGAAGTCCGTgccggggcc 0.433 NA 2 4 --- --- --- --- NA NA NA NA NA AP3M1 26985 broad.mit.edu 37 10 75883569 75883569 + Frame_Shift_Del DEL C C - TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr10:75883569delC uc001jwf.2 - 9 1686 c.1256delG c.(1255-1257)TGAfs p.*419fs AP3M1_uc001jwg.2_Frame_Shift_Del_p.*419fs|AP3M1_uc001jwh.2_Frame_Shift_Del_p.*419fs|AP3M1_uc010qla.1_Frame_Shift_Del_p.*365fs NM_207012 NP_996895 Q9Y2T2 AP3M1_HUMAN adaptor-related protein complex 3, mu 1 subunit 419 protein targeting to lysosome|vesicle-mediated transport clathrin adaptor complex|Golgi apparatus|lysosome protein binding 0 Prostate(51;0.0112) GGCCTCTTCTCATGTCCTCAC 0.393 NA 33 71 --- --- --- --- NA NA NA NA NA CDHR1 92211 broad.mit.edu 37 10 85974197 85974197 + Frame_Shift_Del DEL G G - TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr10:85974197delG uc001kcv.2 + 17 2400 c.2400delG c.(2398-2400)GTGfs p.V800fs CDHR1_uc001kcw.2_Intron|CDHR1_uc009xst.2_Frame_Shift_Del_p.V504fs|CDHR1_uc001kcx.2_Frame_Shift_Del_p.V114fs NM_033100 NP_149091 Q96JP9 CDHR1_HUMAN protocadherin 21 precursor 800 Cytoplasmic (Potential).|Pro-rich. homophilic cell adhesion calcium ion binding|receptor activity ovary(1) 1 CACCCAGCGTGGCGCCCAGCA 0.597 NA 37 91 --- --- --- --- NA NA NA NA NA DENND5A 23258 broad.mit.edu 37 11 9163520 9163520 + Frame_Shift_Del DEL C C - TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr11:9163520delC uc001mhl.2 - 22 3902 c.3647delG c.(3646-3648)GGCfs p.G1216fs DENND5A_uc001mhk.2_Frame_Shift_Del_p.G559fs|DENND5A_uc010rbw.1_Splice_Site_p.E1216_splice NM_015213 NP_056028 Q6IQ26 DEN5A_HUMAN RAB6 interacting protein 1 1216 RUN 2. liver(1) 1 CTGAAACTTGCCATCCTTGCC 0.552 NA 12 40 --- --- --- --- NA NA NA NA NA OR8I2 120586 broad.mit.edu 37 11 55861592 55861592 + Frame_Shift_Del DEL C C - TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr11:55861592delC uc010rix.1 + 1 809 c.809delC c.(808-810)GCGfs p.A270fs NM_001003750 NP_001003750 Q8N0Y5 OR8I2_HUMAN olfactory receptor, family 8, subfamily I, 270 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1) 1 Esophageal squamous(21;0.00693) CTGACCCAGGCGCAGGTGGCA 0.453 NA 22 110 --- --- --- --- NA NA NA NA NA SORL1 6653 broad.mit.edu 37 11 121429484 121429484 + Frame_Shift_Del DEL G G - TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr11:121429484delG uc001pxx.2 + 20 2928 c.2848delG c.(2848-2850)GGCfs p.G950fs NM_003105 NP_003096 Q92673 SORL_HUMAN sortilin-related receptor containing LDLR class 950 Extracellular (Potential).|LDL-receptor class B 4. cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1) 15 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) CACGTTCAGTGGCCAGCAGCG 0.552 NA 19 66 --- --- --- --- NA NA NA NA NA GDF3 9573 broad.mit.edu 37 12 7848269 7848269 + Frame_Shift_Del DEL C C - TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr12:7848269delC uc001qte.2 - 1 92 c.56delG c.(55-57)GGCfs p.G19fs NM_020634 NP_065685 Q9NR23 GDF3_HUMAN growth differentiation factor 3 precursor 19 eye development|growth|skeletal system development extracellular space cytokine activity|growth factor activity skin(3)|ovary(1)|lung(1)|central_nervous_system(1) 6 GACTGCCTGGCCCAAAGCCAG 0.498 NA 8 50 --- --- --- --- NA NA NA NA NA SCN8A 6334 broad.mit.edu 37 12 52093524 52093525 + Frame_Shift_Ins INS - - T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr12:52093524_52093525insT uc001ryw.2 + 7 1055_1056 c.877_878insT c.(877-879)CTTfs p.L293fs SCN8A_uc010snl.1_Frame_Shift_Ins_p.L158fs|SCN8A_uc001ryx.1_Frame_Shift_Ins_p.L158fs|SCN8A_uc001ryz.1_Frame_Shift_Ins_p.L158fs|SCN8A_uc001ryy.2_Frame_Shift_Ins_p.L158fs NM_014191 NP_055006 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha 293 I. axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity ovary(7) 7 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) CGAGAGCTATCTTGAAAATGGC 0.436 NA 9 25 --- --- --- --- NA NA NA NA NA NAA16 79612 broad.mit.edu 37 13 41933096 41933097 + Frame_Shift_Ins INS - - G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr13:41933096_41933097insG uc001uyf.2 + 12 1732_1733 c.1408_1409insG c.(1408-1410)AGGfs p.R470fs NAA16_uc010tfg.1_RNA NM_024561 NP_078837 Q6N069 NAA16_HUMAN NMDA receptor regulated 1-like protein isoform 470 N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent cytoplasm|transcription factor complex binding central_nervous_system(1) 1 CAAGTTCACAAGGGTAGGAAAT 0.356 NA 33 94 --- --- --- --- NA NA NA NA NA EDNRB 1910 broad.mit.edu 37 13 78492477 78492477 + Frame_Shift_Del DEL C C - TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr13:78492477delC uc001vko.2 - 1 490 c.232delG c.(232-234)GCAfs p.A78fs uc001vks.2_5'Flank|EDNRB_uc001vkq.1_Frame_Shift_Del_p.A78fs|EDNRB_uc010aez.1_Frame_Shift_Del_p.A78fs|EDNRB_uc001vkp.1_Frame_Shift_Del_p.A161fs|EDNRB_uc010afa.1_Frame_Shift_Del_p.A78fs NM_001122659 NP_001116131 P24530 EDNRB_HUMAN endothelin receptor type B isoform 1 precursor 78 Extracellular (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction integral to plasma membrane endothelin-B receptor activity|peptide hormone binding 0 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0933) Bosentan(DB00559) GGAGATCCTGCCGTCCTGTCT 0.582 NA 16 71 --- --- --- --- NA NA NA NA NA PRKCH 5583 broad.mit.edu 37 14 62016430 62016430 + Frame_Shift_Del DEL G G - TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr14:62016430delG uc001xfn.2 + 14 2238 c.1933delG c.(1933-1935)GACfs p.D645fs PRKCH_uc010tsa.1_Frame_Shift_Del_p.D484fs|PRKCH_uc010tsb.1_Frame_Shift_Del_p.D213fs|PRKCH_uc001xfo.2_RNA NM_006255 NP_006246 P24723 KPCL_HUMAN protein kinase C, eta 645 AGC-kinase C-terminal. intracellular signal transduction|platelet activation cytosol|plasma membrane ATP binding|enzyme binding|metal ion binding|protein kinase C activity ovary(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|large_intestine(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182) CAGTAATTTTGACCCTGACTT 0.398 Melanoma(135;863 1779 8064 14443 26348) NA 31 81 --- --- --- --- NA NA NA NA NA BTBD7 55727 broad.mit.edu 37 14 93719992 93719992 + Splice_Site DEL C C - TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr14:93719992delC uc001ybo.2 - 7 2078 c.1752_splice c.e7+1 p.K584_splice BTBD7_uc010aur.2_Splice_Site_p.K109_splice|BTBD7_uc010two.1_Splice_Site_p.K404_splice|BTBD7_uc001ybp.2_Splice_Site_p.K233_splice NM_001002860 NP_001002860 Q9P203 BTBD7_HUMAN BTB (POZ) domain containing 7 isoform 1 pancreas(1) 1 all_cancers(154;0.08) Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223) GTTTTCATTACCTTTGCTTCT 0.289 NA 30 77 --- --- --- --- NA NA NA NA NA SGCA 6442 broad.mit.edu 37 17 48245032 48245033 + Frame_Shift_Ins INS - - A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr17:48245032_48245033insA uc002iqi.2 + 3 283_284 c.247_248insA c.(247-249)CCCfs p.P83fs SGCA_uc010wmh.1_Intron|SGCA_uc002iqj.2_Frame_Shift_Ins_p.P83fs|SGCA_uc010wmi.1_RNA NM_000023 NP_000014 Q16586 SGCA_HUMAN sarcoglycan, alpha isoform 1 precursor 83 Extracellular (Potential). muscle contraction|muscle organ development cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma calcium ion binding ovary(2) 2 CCAGCGCAGCCCCCACCACCCT 0.658 NA 7 29 --- --- --- --- NA NA NA NA NA SERPINB11 89778 broad.mit.edu 37 18 61390628 61390628 + Frame_Shift_Del DEL C C - TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr18:61390628delC uc002ljk.3 + 9 1236 c.1174delC c.(1174-1176)CCCfs p.P392fs SERPINB11_uc010xes.1_Frame_Shift_Del_p.P217fs|SERPINB11_uc010dqd.2_Intron|SERPINB11_uc002ljj.3_Frame_Shift_Del_p.P278fs|SERPINB11_uc010dqe.2_Frame_Shift_Del_p.P191fs|SERPINB11_uc010dqf.2_Frame_Shift_Del_p.P190fs NM_080475 NP_536723 Q96P15 SPB11_HUMAN serpin peptidase inhibitor, clade B, member 11 392 regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity breast(1) 1 Esophageal squamous(42;0.129) GCTTGCCTCTCCCTAATCAGA 0.488 Ovarian(27;496 784 5942 8975 23930) NA 20 78 --- --- --- --- NA NA NA NA NA CAPN12 147968 broad.mit.edu 37 19 39227940 39227941 + Frame_Shift_Ins INS - - C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr19:39227940_39227941insC uc002ojd.1 - 10 1526_1527 c.1217_1218insG c.(1216-1218)GGCfs p.G406fs CAPN12_uc010egd.1_5'Flank|CAPN12_uc002ojc.1_5'Flank NM_144691 NP_653292 Q6ZSI9 CAN12_HUMAN calpain 12 406 Domain III. proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity central_nervous_system(1)|pancreas(1) 2 all_cancers(60;2.87e-05)|Ovarian(47;0.0454) Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741) CAGCCCCCCAGCCCCCCCAGGG 0.673 NA 2 4 --- --- --- --- NA NA NA NA NA MPHOSPH10 10199 broad.mit.edu 37 2 71360643 71360645 + In_Frame_Del DEL TTT TTT - TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 TTT TTT - - TTT TTT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:71360643_71360645delTTT uc002sht.1 + 2 1057_1059 c.705_707delTTT c.(703-708)GATTTT>GAT p.F237del MPHOSPH10_uc010feb.1_In_Frame_Del_p.F237del NM_005791 NP_005782 O00566 MPP10_HUMAN M-phase phosphoprotein 10 237 Potential. RNA splicing, via transesterification reactions|rRNA processing chromosome|nucleolus|small nucleolar ribonucleoprotein complex protein binding skin(2)|ovary(1) 3 AAGATATTGATTTTTTTGAAGAT 0.34 NA 26 72 --- --- --- --- NA NA NA NA NA RIF1 55183 broad.mit.edu 37 2 152292047 152292048 + Frame_Shift_Ins INS - - T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:152292047_152292048insT uc002txm.2 + 11 1278_1279 c.1148_1149insT c.(1147-1149)CATfs p.H383fs RIF1_uc002txl.2_Frame_Shift_Ins_p.H383fs|RIF1_uc010fnv.1_Frame_Shift_Ins_p.H347fs|RIF1_uc002txn.2_Frame_Shift_Ins_p.H383fs|RIF1_uc002txo.2_Frame_Shift_Ins_p.H383fs|RIF1_uc010zby.1_Intron NM_018151 NP_060621 Q5UIP0 RIF1_HUMAN RAP1 interacting factor 1 383 cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1) 15 BRCA - Breast invasive adenocarcinoma(221;0.0429) AATTCGTGTCATGTAGCTACAT 0.376 NA 44 140 --- --- --- --- NA NA NA NA NA TTN 7273 broad.mit.edu 37 2 179554591 179554591 + Frame_Shift_Del DEL C C - TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:179554591delC uc010zfg.1 - 119 28287 c.28063delG c.(28063-28065)GAAfs p.E9355fs TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Frame_Shift_Del_p.E6016fs|TTN_uc010fre.1_Frame_Shift_Del_p.E466fs NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 10282 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) GGAATCTTTTCTTCAGGGACA 0.393 NA 72 214 --- --- --- --- NA NA NA NA NA WDR75 84128 broad.mit.edu 37 2 190340074 190340074 + Frame_Shift_Del DEL G G - TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr2:190340074delG uc002uql.1 + 21 2484 c.2424delG c.(2422-2424)TTGfs p.L808fs WDR75_uc002uqm.1_Frame_Shift_Del_p.L744fs|WDR75_uc002uqn.1_Frame_Shift_Del_p.L586fs|WDR75_uc002uqo.1_Frame_Shift_Del_p.L586fs NM_032168 NP_115544 Q8IWA0 WDR75_HUMAN WD repeat domain 75 808 nucleolus ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456) TACATCAGTTGTCAAAATCTG 0.363 NA 19 46 --- --- --- --- NA NA NA NA NA KCTD8 386617 broad.mit.edu 37 4 44177021 44177021 + Frame_Shift_Del DEL G G - TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr4:44177021delG uc003gwu.2 - 2 1492 c.1208delC c.(1207-1209)CCAfs p.P403fs NM_198353 NP_938167 Q6ZWB6 KCTD8_HUMAN potassium channel tetramerisation domain 403 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(2)|ovary(1) 3 TTTGTCTGGTGGGGGTATCCA 0.483 NA HNSCC(17;0.042) 44 294 --- --- --- --- NA NA NA NA NA EPHA5 2044 broad.mit.edu 37 4 66467435 66467435 + Frame_Shift_Del DEL G G - TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr4:66467435delG uc003hcy.2 - 3 1027 c.834delC c.(832-834)GCCfs p.A278fs EPHA5_uc003hcx.2_Frame_Shift_Del_p.A209fs|EPHA5_uc003hcz.2_Frame_Shift_Del_p.A278fs|EPHA5_uc011cah.1_Frame_Shift_Del_p.A278fs|EPHA5_uc011cai.1_Frame_Shift_Del_p.A278fs|EPHA5_uc003hda.2_Frame_Shift_Del_p.A278fs NM_004439 NP_004430 P54756 EPHA5_HUMAN ephrin receptor EphA5 isoform a precursor 278 Extracellular (Potential).|Cys-rich. 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 ACTCCCCTTCGGCGCTGCAGT 0.522 NA TSP Lung(17;0.13) 9 65 --- --- --- --- NA NA NA NA NA ADAMTS12 81792 broad.mit.edu 37 5 33546184 33546184 + Frame_Shift_Del DEL C C - TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr5:33546184delC uc003jia.1 - 22 4589 c.4426delG c.(4426-4428)GCCfs p.A1476fs ADAMTS12_uc010iuq.1_Frame_Shift_Del_p.A1391fs NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 1476 TSP type-1 8. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 TTCCCAGTGGCCCAGTGACAG 0.378 NA HNSCC(64;0.19) 7 88 --- --- --- --- NA NA NA NA NA ADAMTS12 81792 broad.mit.edu 37 5 33561259 33561260 + Frame_Shift_Ins INS - - T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr5:33561259_33561260insT uc003jia.1 - 20 4160_4161 c.3997_3998insA c.(3997-3999)GCCfs p.A1333fs ADAMTS12_uc010iuq.1_Frame_Shift_Ins_p.A1248fs NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 1333 TSP type-1 5. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 TCTCCAGTAGGCCCCCAGGCCA 0.584 NA HNSCC(64;0.19) 14 80 --- --- --- --- NA NA NA NA NA SPEF2 79925 broad.mit.edu 37 5 35709195 35709196 + Frame_Shift_Ins INS - - C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr5:35709195_35709196insC uc003jjo.2 + 19 2922_2923 c.2811_2812insC c.(2809-2814)ACTCCTfs p.T937fs SPEF2_uc003jjq.3_Frame_Shift_Ins_p.T932fs|SPEF2_uc003jjp.1_Frame_Shift_Ins_p.T423fs NM_024867 NP_079143 Q9C093 SPEF2_HUMAN KPL2 protein isoform 1 937_938 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity skin(2)|ovary(1)|central_nervous_system(1) 4 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CTTCAAAAACTCCTACTGCAAA 0.386 NA 18 118 --- --- --- --- NA NA NA NA NA HTR1A 3350 broad.mit.edu 37 5 63257309 63257309 + Frame_Shift_Del DEL C C - TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr5:63257309delC uc011cqt.1 - 1 238 c.238delG c.(238-240)GTCfs p.V80fs NM_000524 NP_000515 P08908 5HT1A_HUMAN 5-hydroxytryptamine (serotonin) receptor 1A 80 Helical; Name=2; (By similarity). behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity ovary(2)|pancreas(2) 4 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) AGGTCGGTGACCGCCAAAGAG 0.597 NA 8 15 --- --- --- --- NA NA NA NA NA DRD1 1812 broad.mit.edu 37 5 174869076 174869076 + Frame_Shift_Del DEL T T - TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr5:174869076delT uc003mcz.2 - 2 1972 c.1027delA c.(1027-1029)ACCfs p.T343fs NM_000794 NP_000785 P21728 DRD1_HUMAN dopamine receptor D1 343 Cytoplasmic (Potential). activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning endoplasmic reticulum membrane|membrane fraction protein binding ovary(2)|skin(1) 3 all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104) Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624) CCTAAGAGGGTTGAAAATGCC 0.453 NA 35 52 --- --- --- --- NA NA NA NA NA SIM1 6492 broad.mit.edu 37 6 100838281 100838281 + Frame_Shift_Del DEL G G - TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr6:100838281delG uc003pqj.3 - 11 2464 c.2257delC c.(2257-2259)CAAfs p.Q753fs SIM1_uc010kcu.2_Frame_Shift_Del_p.Q753fs NM_005068 NP_005059 P81133 SIM1_HUMAN single-minded homolog 1 753 Single-minded C-terminal. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(4) 4 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) TTGTGTCCTTGTGCTGGGTCT 0.383 NA 32 110 --- --- --- --- NA NA NA NA NA C6orf118 168090 broad.mit.edu 37 6 165711542 165711542 + Frame_Shift_Del DEL C C - TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr6:165711542delC uc003qum.3 - 5 1021 c.985delG c.(985-987)GCGfs p.A329fs C6orf118_uc011egi.1_RNA NM_144980 NP_659417 Q5T5N4 CF118_HUMAN hypothetical protein LOC168090 329 0 Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157) OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313) TCCATGTCCGCCGTCTTCACC 0.602 NA 15 49 --- --- --- --- NA NA NA NA NA DLX5 1749 broad.mit.edu 37 7 96653778 96653778 + Frame_Shift_Del DEL C C - TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr7:96653778delC uc003uon.2 - 1 366 c.158delG c.(157-159)GGAfs p.G53fs DLX5_uc011kim.1_Frame_Shift_Del_p.G53fs NM_005221 NP_005212 P56178 DLX5_HUMAN distal-less homeobox 5 53 cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding ovary(1) 1 all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858) GTGCGGGGCTCCCCCCGTAGG 0.602 NA 14 62 --- --- --- --- NA NA NA NA NA POP1 10940 broad.mit.edu 37 8 99146751 99146751 + Frame_Shift_Del DEL T T - TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr8:99146751delT uc003yij.3 + 7 975 c.875delT c.(874-876)CTTfs p.L292fs POP1_uc011lgv.1_Frame_Shift_Del_p.L292fs|POP1_uc003yik.2_Frame_Shift_Del_p.L292fs NM_001145860 NP_001139332 Q99575 POP1_HUMAN processing of precursor 1 292 tRNA 5'-leader removal|tRNA catabolic process nucleolar ribonuclease P complex|ribonuclease MRP complex identical protein binding|ribonuclease MRP activity|ribonuclease P activity ovary(1)|breast(1) 2 Breast(36;1.78e-06) OV - Ovarian serous cystadenocarcinoma(57;0.145) CAAGGGAGCCTTGTGCTTTAT 0.502 NA 19 68 --- --- --- --- NA NA NA NA NA PKHD1L1 93035 broad.mit.edu 37 8 110455173 110455174 + Splice_Site INS - - G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr8:110455173_110455174insG uc003yne.2 + 36 4498 c.4394_splice c.e36-1 p.G1465_splice NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) ATTTTATGGCAGGTTCATTTTC 0.322 NA HNSCC(38;0.096) 9 127 --- --- --- --- NA NA NA NA NA ADAMTSL1 92949 broad.mit.edu 37 9 18906757 18906758 + Frame_Shift_Ins INS - - T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr9:18906757_18906758insT uc003zne.3 + 28 5156_5157 c.5029_5030insT c.(5029-5031)CTGfs p.L1677fs ADAMTSL1_uc003znf.3_Frame_Shift_Ins_p.L378fs|ADAMTSL1_uc003zng.1_Frame_Shift_Ins_p.L68fs NM_001040272 NP_001035362 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 isoform 4 precursor 1677 TSP type-1 9. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(3)|upper_aerodigestive_tract(1)|lung(1) 5 GBM - Glioblastoma multiforme(50;1.29e-17) CCTGTGGACCCTGTGCACAGCT 0.614 NA 10 15 --- --- --- --- NA NA NA NA NA TMEM2 23670 broad.mit.edu 37 9 74324265 74324266 + Frame_Shift_Del DEL CA CA - TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 CA CA - - CA CA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5a79ea9-4b65-4e69-bed1-79919e2639d7 4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc g.chr9:74324265_74324266delCA uc011lsa.1 - 17 3434_3435 c.2894_2895delTG c.(2893-2895)GTGfs p.V965fs TMEM2_uc010mos.2_Frame_Shift_Del_p.V902fs|TMEM2_uc011lsb.1_RNA NM_013390 NP_037522 Q9UHN6 TMEM2_HUMAN transmembrane protein 2 isoform a 965 integral to membrane ovary(2) 2 all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255) GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16) CCATTCTTCCCACATAAGCATC 0.465 NA 9 89 --- --- --- --- NA NA NA NA NA