Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut NOC2L 26155 broad.mit.edu 37 1 886571 886571 + Missense_Mutation SNP C C A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr1:886571C>A uc001abz.3 - 12 1438 c.1379G>T c.(1378-1380)CGT>CTT p.R460L NOC2L_uc001aby.3_Missense_Mutation_p.R257L|NOC2L_uc009vjq.2_Missense_Mutation_p.R460L NM_015658 NP_056473 Q9Y3T9 NOC2L_HUMAN nucleolar complex associated 2 homolog 460 nucleolus protein binding ovary(1)|skin(1) 2 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;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2) CGTCAGGGCACGGATGCAGTG 0.687 NA 3 6 0.004672 0.00619083 1 0 CCDC27 148870 broad.mit.edu 37 1 3683848 3683848 + Missense_Mutation SNP G G C TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr1:3683848G>C uc001akv.2 + 10 1663 c.1582G>C c.(1582-1584)GAG>CAG p.E528Q NM_152492 NP_689705 Q2M243 CCD27_HUMAN coiled-coil domain containing 27 528 skin(1) 1 all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218) all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127) Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203) TGTCATCTCAGAGTTGGACAC 0.567 NA 6 30 0 0 0 0 MTHFR 4524 broad.mit.edu 37 1 11851316 11851316 + Missense_Mutation SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr1:11851316C>T uc001atc.1 - 11 1884 c.1700G>A c.(1699-1701)CGA>CAA p.R567Q MTHFR_uc001atb.1_Missense_Mutation_p.R590Q NM_005957 NP_005948 P42898 MTHR_HUMAN 5,10-methylenetetrahydrofolate reductase 567 blood circulation|folic acid metabolic process cytosol methylenetetrahydrofolate reductase (NADPH) activity|protein binding 0 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649) Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116) GATGATCTCTCGCCCAGGGAA 0.602 NA 18 30 0 0 0 0 PRDM2 7799 broad.mit.edu 37 1 14108593 14108593 + Nonsense_Mutation SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr1:14108593C>T uc001avi.2 + 8 5159 c.4303C>T c.(4303-4305)CAG>TAG p.Q1435* PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Nonsense_Mutation_p.Q1435*|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Nonsense_Mutation_p.Q1234*|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron NM_012231 NP_036363 Q13029 PRDM2_HUMAN retinoblastoma protein-binding zinc finger 1435 Arg/Lys-rich (basic). Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) AGCAATTCTTCAGAAAAACAA 0.378 NA 65 139 0 0 0 0 PRDM2 7799 broad.mit.edu 37 1 14108975 14108975 + Missense_Mutation SNP C C T rs61747666 TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr1:14108975C>T uc001avi.2 + 8 5541 c.4685C>T c.(4684-4686)TCG>TTG p.S1562L PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.S1562L|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Missense_Mutation_p.S1361L|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron NM_012231 NP_036363 Q13029 PRDM2_HUMAN retinoblastoma protein-binding zinc finger 1562 Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) TTTGCAGCTTCGGTGAAATCC 0.512 NA 23 61 0 0 0 0 PRDM2 7799 broad.mit.edu 37 1 14109005 14109005 + Missense_Mutation SNP C C G TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr1:14109005C>G uc001avi.2 + 8 5571 c.4715C>G c.(4714-4716)TCT>TGT p.S1572C PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.S1572C|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Missense_Mutation_p.S1371C|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron NM_012231 NP_036363 Q13029 PRDM2_HUMAN retinoblastoma protein-binding zinc finger 1572 Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) AGCTCCTCCTCTTTAAGGAAC 0.488 NA 20 51 0 0 0 0 UBR4 23352 broad.mit.edu 37 1 19505574 19505574 + Silent SNP G G A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr1:19505574G>A uc001bbi.2 - 18 2329 c.2325C>T c.(2323-2325)GAC>GAT p.D775D UBR4_uc001bbm.1_Translation_Start_Site NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN retinoblastoma-associated factor 600 775 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2) 25 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) ATTCTGGGACGTCAGGGTCAC 0.458 NA 13 170 0 0 0 0 SH2D5 400745 broad.mit.edu 37 1 21050978 21050978 + Missense_Mutation SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr1:21050978C>T uc001bdt.1 - 5 914 c.289G>A c.(289-291)GAG>AAG p.E97K SH2D5_uc009vpy.1_Missense_Mutation_p.E181K|SH2D5_uc001bdu.1_RNA NM_001103160 NP_001096630 Q6ZV89 SH2D5_HUMAN SH2 domain containing 5 isoform 2 97 0 Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-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;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) CCGAAGGGCTCCCGCACCAGG 0.692 NA 7 15 0 0 0 0 SFN 2810 broad.mit.edu 37 1 27190444 27190444 + Missense_Mutation SNP G G C TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr1:27190444G>C uc001bnc.1 + 1 812 c.741G>C c.(739-741)CAG>CAC p.Q247H uc010ofi.1_RNA NM_006142 NP_006133 P31947 1433S_HUMAN stratifin 247 DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria cytoplasm|extracellular space|nucleus protein domain specific binding|protein kinase C inhibitor activity 0 all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215) AGGAGCCCCAGAGCTGAGTGT 0.687 NA 7 21 0 0 0 0 COL16A1 1307 broad.mit.edu 37 1 32134424 32134424 + Silent SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr1:32134424C>T uc001btk.1 - 50 3593 c.3228G>A c.(3226-3228)CTG>CTA p.L1076L COL16A1_uc001bti.1_5'UTR|COL16A1_uc001btj.1_Silent_p.L874L NM_001856 NP_001847 Q07092 COGA1_HUMAN alpha 1 type XVI collagen precursor 1076 Triple-helical region 2 (COL2) with 2 imperfections. cell adhesion|female pregnancy|integrin-mediated signaling pathway collagen type XVI integrin binding|structural molecule activity ovary(8) 8 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116) STAD - Stomach adenocarcinoma(196;0.059) TGTCTCCAGTCAGGCCCGTGA 0.617 NA 22 37 0 0 0 0 KIAA1522 57648 broad.mit.edu 37 1 33237233 33237233 + Missense_Mutation SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr1:33237233C>T uc001bvv.2 + 6 2412 c.2276C>T c.(2275-2277)TCG>TTG p.S759L KIAA1522_uc001bvu.1_Missense_Mutation_p.S818L|KIAA1522_uc010ohm.1_Missense_Mutation_p.S770L|KIAA1522_uc010ohn.1_Intron NM_020888 NP_065939 Q9P206 K1522_HUMAN hypothetical protein LOC57648 759 Pro-rich. 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) CCGGCTGCTTCGTCCTCCTCA 0.652 NA 19 42 0 0 0 0 CTPS 1503 broad.mit.edu 37 1 41454371 41454371 + Missense_Mutation SNP C C G TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr1:41454371C>G uc001cgk.3 + 5 1052 c.544C>G c.(544-546)CTA>GTA p.L182V CTPS_uc010ojo.1_Intron|CTPS_uc010ojp.1_Missense_Mutation_p.L189V|CTPS_uc001cgl.3_Missense_Mutation_p.L182V|CTPS_uc010ojq.1_Missense_Mutation_p.L26V NM_001905 NP_001896 P17812 PYRG1_HUMAN CTP synthase 182 CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug cytosol ATP binding|CTP synthase activity|protein binding 0 Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0255) L-Glutamine(DB00130) CCACGTCAGTCTAGTTCCCCA 0.443 NA 5 64 0 0 0 0 CCDC30 728621 broad.mit.edu 37 1 43047055 43047055 + Missense_Mutation SNP G G C TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr1:43047055G>C uc009vwk.1 + 8 1200 c.1090G>C c.(1090-1092)GAA>CAA p.E364Q CCDC30_uc001chm.2_Missense_Mutation_p.E62Q|CCDC30_uc001chn.2_Missense_Mutation_p.E153Q|CCDC30_uc010oju.1_RNA|CCDC30_uc001chp.2_Missense_Mutation_p.E178Q NM_001080850 NP_001074319 Q5VVM6 CCD30_HUMAN coiled-coil domain containing 30 364 Potential. 0 GCGGAAATTAGAACATGCTCA 0.338 NA 17 71 0 0 0 0 ZSWIM5 57643 broad.mit.edu 37 1 45485782 45485782 + Missense_Mutation SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr1:45485782C>T uc001cnd.2 - 13 2879 c.2651G>A c.(2650-2652)CGC>CAC p.R884H NM_020883 NP_065934 Q9P217 ZSWM5_HUMAN zinc finger, SWIM domain containing 5 884 zinc ion binding 0 Acute lymphoblastic leukemia(166;0.155) CATCTCCCTGCGTCTCCAGTT 0.552 NA 9 25 0 0 0 0 GBP1 2633 broad.mit.edu 37 1 89521738 89521738 + Silent SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr1:89521738C>T uc001dmx.2 - 8 1549 c.1329G>A c.(1327-1329)CTG>CTA p.L443L NM_002053 NP_002044 P32455 GBP1_HUMAN guanylate binding protein 1, 443 interferon-gamma-mediated signaling pathway plasma membrane GTP binding|GTPase activity ovary(1)|skin(1) 2 Lung NSC(277;0.123) all cancers(265;0.0156)|Epithelial(280;0.0291) ACTTTTTCTTCAGGTCTTGTA 0.438 NA 77 186 0 0 0 0 BTBD8 284697 broad.mit.edu 37 1 92613302 92613302 + Missense_Mutation SNP G G C TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr1:92613302G>C uc001doo.2 + 9 1348 c.1081G>C c.(1081-1083)GAG>CAG p.E361Q BTBD8_uc010otc.1_RNA NM_183242 NP_899065 Q5XKL5 BTBD8_HUMAN BTB (POZ) domain containing 8 361 nucleus ovary(1) 1 all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222) all cancers(265;0.0153)|Epithelial(280;0.0982) TATACCTCCTGAGATTCAGAA 0.308 NA 15 20 0 0 0 0 CCDC76 54482 broad.mit.edu 37 1 100608709 100608709 + Missense_Mutation SNP G G A rs147022991 TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr1:100608709G>A uc001dsv.2 + 8 705 c.686G>A c.(685-687)AGA>AAA p.R229K CCDC76_uc010ouf.1_RNA|CCDC76_uc009wea.2_Missense_Mutation_p.R229K NM_019083 NP_061956 Q9NUP7 TRM13_HUMAN coiled-coil domain containing 76 229 tRNA processing metal ion binding|methyltransferase activity ovary(1) 1 all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155) Epithelial(280;0.0814)|all cancers(265;0.133)|COAD - Colon adenocarcinoma(174;0.146)|Lung(183;0.194) GGAAAACACAGAAAGAAAAAT 0.274 NA 5 25 0 0 0 0 AP4B1 10717 broad.mit.edu 37 1 114442970 114442970 + Missense_Mutation SNP G G A rs138216814 TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr1:114442970G>A uc001eeb.2 - 5 813 c.670C>T c.(670-672)CGC>TGC p.R224C uc001edv.1_RNA|AP4B1_uc001eec.2_Missense_Mutation_p.R56C|AP4B1_uc001eed.2_Missense_Mutation_p.R224C|AP4B1_uc010owp.1_Missense_Mutation_p.R125C|AP4B1_uc001eea.1_Missense_Mutation_p.R18C|AP4B1_uc010owq.1_Missense_Mutation_p.R131C NM_006594 NP_006585 Q9Y6B7 AP4B1_HUMAN adaptor-related protein complex 4, beta 1 224 intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|soluble fraction|trans-Golgi network protein binding|protein transporter activity ovary(3)|central_nervous_system(1) 4 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GGTTGGTAGCGTAGCAGAAAG 0.428 NA 14 39 0 0 0 0 DENND2C 163259 broad.mit.edu 37 1 115153710 115153710 + Silent SNP G G C TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr1:115153710G>C uc001efd.1 - 9 2055 c.1353C>G c.(1351-1353)GCC>GCG p.A451A DENND2C_uc001eez.2_RNA|DENND2C_uc001efc.1_Silent_p.A394A NM_198459 NP_940861 Q68D51 DEN2C_HUMAN DENN/MADD domain containing 2C 451 skin(3) 3 all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GCAGATACTCGGCATCACTTT 0.458 NA 5 75 0 0 0 0 ACP6 51205 broad.mit.edu 37 1 147131131 147131131 + Missense_Mutation SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr1:147131131C>T uc001epr.2 - 4 967 c.503G>A c.(502-504)CGG>CAG p.R168Q ACP6_uc009wjj.1_Missense_Mutation_p.R125Q NM_016361 NP_057445 Q9NPH0 PPA6_HUMAN acid phosphatase 6, lysophosphatidic precursor 168 lipid metabolic process extracellular region|mitochondrion acid phosphatase activity|protein binding ovary(4) 4 all_hematologic(923;0.0276) CTCCAGATTCCGAAAAATGTT 0.413 NA 33 76 0 0 0 0 MTMR11 10903 broad.mit.edu 37 1 149905304 149905305 + Missense_Mutation DNP AG AG TT TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr1:149905304_149905305AG>TT uc001etl.3 - 10 1230_1231 c.979_980CT>AA c.(979-981)CTG>AAG p.L327K MTMR11_uc001etm.1_Missense_Mutation_p.L255K|MTMR11_uc010pbm.1_Missense_Mutation_p.L299K|MTMR11_uc010pbn.1_Missense_Mutation_p.L169K NM_001145862 NP_001139334 A4FU01 MTMRB_HUMAN myotubularin related protein 11 isoform a 327 Myotubularin phosphatase. phosphatase activity central_nervous_system(1) 1 Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) CTCACCAGGCAGGCAGAGGGCC 0.559 NA 36 101 0 0 0 0 FLG 2312 broad.mit.edu 37 1 152282919 152282919 + Silent SNP T T C TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr1:152282919T>C uc001ezu.1 - 3 4479 c.4443A>G c.(4441-4443)GCA>GCG p.A1481A NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1481 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CGTCTTGGGATGCTGAGTGCC 0.567 NA Ichthyosis 16 356 0 0 0 0 FLG 2312 broad.mit.edu 37 1 152282956 152282956 + Missense_Mutation SNP C C T rs145675213 byFrequency TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr1:152282956C>T uc001ezu.1 - 3 4442 c.4406G>A c.(4405-4407)CGC>CAC p.R1469H uc001ezv.2_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1469 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGCTCATGGCGGGATCCTTG 0.577 NA Ichthyosis 24 255 0 0 0 0 UBE2Q1 55585 broad.mit.edu 37 1 154523963 154523963 + Missense_Mutation SNP C C G TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr1:154523963C>G uc001fff.1 - 11 1171 c.1080G>C c.(1078-1080)TGG>TGC p.W360C NM_017582 NP_060052 Q7Z7E8 UB2Q1_HUMAN ubiquitin-conjugating enzyme E2Q 360 ATP binding|protein binding|ubiquitin-protein ligase activity 0 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) AGGCACTGCTCCAGCCCTGGG 0.537 NA 42 65 0 0 0 0 KIAA0907 22889 broad.mit.edu 37 1 155887369 155887369 + Missense_Mutation SNP G G C TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr1:155887369G>C uc001fmi.1 - 11 1385 c.1361C>G c.(1360-1362)CCA>CGA p.P454R KIAA0907_uc001fmj.1_Missense_Mutation_p.P454R|KIAA0907_uc009wrk.1_Missense_Mutation_p.P311R|KIAA0907_uc009wrl.1_RNA NM_014949 NP_055764 Q7Z7F0 K0907_HUMAN hypothetical protein LOC22889 454 Pro-rich. 0 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) GGGCTGACTTGGGAGTGgggg 0.443 NA 25 41 0 0 0 0 OR10X1 128367 broad.mit.edu 37 1 158548948 158548948 + Missense_Mutation SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr1:158548948C>T uc010pin.1 - 1 742 c.742G>A c.(742-744)GAG>AAG p.E248K NM_001004477 NP_001004477 Q8NGY0 O10X1_HUMAN olfactory receptor, family 10, subfamily X, 248 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) TGCTTGCCCTCAGCTGAAGGG 0.473 NA 41 81 0 0 0 0 ATP1A4 480 broad.mit.edu 37 1 160156138 160156138 + Silent SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr1:160156138C>T uc001fve.3 + 21 3521 c.3042C>T c.(3040-3042)CTC>CTT p.L1014L ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_Silent_p.L517L|ATP1A4_uc001fvh.2_Silent_p.L150L NM_144699 NP_653300 Q13733 AT1A4_HUMAN Na+/K+ -ATPase alpha 4 subunit isoform 1 1014 Cytoplasmic (Potential). ITWWLCAIPYSILIFVYDEIRKLLIRQ -> WSFALTAQAG VKWRILGLLQPLPPRFK (in Ref. 6; BAC05228). 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) GAAAACTCCTCATCCGTCAGC 0.562 NA 38 123 0 0 0 0 COPA 1314 broad.mit.edu 37 1 160275281 160275281 + Missense_Mutation SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr1:160275281C>T uc009wti.2 - 17 2003 c.1609G>A c.(1609-1611)GAG>AAG p.E537K COPA_uc001fvv.3_Missense_Mutation_p.E546K|COPA_uc009wtj.1_Missense_Mutation_p.E483K NM_004371 NP_004362 P53621 COPA_HUMAN coatomer protein complex, subunit alpha isoform 537 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) ACCCCACTCTCATCCCAGGCC 0.438 NA 7 124 0 0 0 0 NPHS2 7827 broad.mit.edu 37 1 179533893 179533893 + Missense_Mutation SNP G G T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr1:179533893G>T uc001gmq.3 - 2 395 c.310C>A c.(310-312)CTT>ATT p.L104I NPHS2_uc009wxi.2_Missense_Mutation_p.L104I NM_014625 NP_055440 Q9NP85 PODO_HUMAN podocin 104 excretion integral to plasma membrane protein binding 0 AGGACAAGAAGCCACTCACAG 0.398 NA 13 28 6.32e-08 8.62e-08 1 0 CEP350 9857 broad.mit.edu 37 1 180012229 180012229 + Silent SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr1:180012229C>T uc001gnt.2 + 20 4784 c.4401C>T c.(4399-4401)GTC>GTT p.V1467V CEP350_uc009wxl.2_Silent_p.V1466V NM_014810 NP_055625 Q5VT06 CE350_HUMAN centrosome-associated protein 350 1467 centrosome|nucleus|spindle ovary(4) 4 CAGATGCTGTCGTGGCTTCAG 0.418 NA 41 87 0 0 0 0 XPR1 9213 broad.mit.edu 37 1 180601389 180601389 + Missense_Mutation SNP C C G TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr1:180601389C>G uc001goi.2 + 1 244 c.52C>G c.(52-54)CAA>GAA p.Q18E XPR1_uc009wxm.2_Missense_Mutation_p.Q18E|XPR1_uc009wxn.2_Missense_Mutation_p.Q18E NM_004736 NP_004727 Q9UBH6 XPR1_HUMAN xenotropic and polytropic retrovirus receptor 18 SPX.|Cytoplasmic (Potential). integral to plasma membrane G-protein coupled receptor activity 0 GTGGAGGAAGCAATACATCCA 0.647 NA 5 4 0 0 0 0 NUAK2 81788 broad.mit.edu 37 1 205290541 205290541 + Missense_Mutation SNP C C G TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr1:205290541C>G uc001hce.2 - 1 343 c.216G>C c.(214-216)GAG>GAC p.E72D NM_030952 NP_112214 Q9H093 NUAK2_HUMAN NUAK family, SNF1-like kinase, 2 72 Protein kinase. actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(3)|stomach(1)|breast(1) 5 Breast(84;0.186) BRCA - Breast invasive adenocarcinoma(75;0.117) GCCCCGAGCTCTCCCGCGCCT 0.731 NA 19 40 0 0 0 0 FAIM3 9214 broad.mit.edu 37 1 207085264 207085264 + Missense_Mutation SNP G G A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr1:207085264G>A uc001hey.2 - 4 700 c.521C>T c.(520-522)CCA>CTA p.P174L FAIM3_uc010prz.1_Missense_Mutation_p.P62L|FAIM3_uc010psa.1_Missense_Mutation_p.P83L|FAIM3_uc010psb.1_Missense_Mutation_p.P174L NM_005449 NP_005440 O60667 FAIM3_HUMAN Fas apoptotic inhibitory molecule 3 isoform a 174 Extracellular (Potential). anti-apoptosis|cellular defense response integral to membrane central_nervous_system(1) 1 Breast(84;0.201) GTGGTGAACTGGAGGGACCTT 0.473 NA OREG0014185 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 25 0 0 0 0 PLXNA2 5362 broad.mit.edu 37 1 208257734 208257734 + Silent SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr1:208257734C>T uc001hgz.2 - 10 3047 c.2289G>A c.(2287-2289)CAG>CAA p.Q763Q NM_025179 NP_079455 O75051 PLXA2_HUMAN plexin A2 precursor 763 Extracellular (Potential). axon guidance integral to membrane|intracellular|plasma membrane ovary(2)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(81;0.199) CCGAGCTGTTCTGACACTGAA 0.627 NA 19 42 0 0 0 0 RRP15 51018 broad.mit.edu 37 1 218504373 218504373 + Missense_Mutation SNP C C A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr1:218504373C>A uc001hlj.2 + 5 819 c.789C>A c.(787-789)GAC>GAA p.D263E RRP15_uc001hlk.2_RNA NM_016052 NP_057136 Q9Y3B9 RRP15_HUMAN ribosomal RNA processing 15 homolog 263 mitochondrion|nucleolus protein binding 0 all cancers(67;0.0315)|OV - Ovarian serous cystadenocarcinoma(81;0.0411)|GBM - Glioblastoma multiforme(131;0.06)|Epithelial(68;0.248) AAGACTGGGACAAGGAAAGTG 0.408 NA 8 18 1.13e-05 1.52e-05 1 0 FMN2 56776 broad.mit.edu 37 1 240370980 240370980 + Silent SNP G G T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr1:240370980G>T uc010pyd.1 + 5 3093 c.2868G>T c.(2866-2868)CCG>CCT p.P956P FMN2_uc010pye.1_Silent_p.P960P NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 956 Pro-rich.|FH1. 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) TACCCCCTCCGCCCCCTCTTC 0.697 NA 21 19 2.28e-05 3.06e-05 1 0 OR2T11 127077 broad.mit.edu 37 1 248789544 248789544 + Missense_Mutation SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr1:248789544C>T uc001ier.1 - 1 886 c.886G>A c.(886-888)GGG>AGG p.G296R NM_001001964 NP_001001964 Q8NH01 O2T11_HUMAN olfactory receptor, family 2, subfamily T, 296 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity lung(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) TTAAATGCCCCTATGACGTCC 0.473 NA 24 58 0 0 0 0 OR2T27 403239 broad.mit.edu 37 1 248813997 248813997 + Silent SNP G G A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr1:248813997G>A uc010pzo.1 - 1 189 c.189C>T c.(187-189)CTC>CTT p.L63L NM_001001824 NP_001001824 Q8NH04 O2T27_HUMAN olfactory receptor, family 2, subfamily T, 63 Helical; Name=2; (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) AGAGCTGGCTGAGCAGGAAGT 0.517 NA 6 46 0 0 0 0 GTPBP4 23560 broad.mit.edu 37 10 1045024 1045024 + Missense_Mutation SNP C C G TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr10:1045024C>G uc001ift.2 + 6 714 c.643C>G c.(643-645)CTA>GTA p.L215V GTPBP4_uc010qac.1_Missense_Mutation_p.L6V|GTPBP4_uc001ifu.2_RNA|GTPBP4_uc010qad.1_Missense_Mutation_p.L99V|GTPBP4_uc010qae.1_Missense_Mutation_p.L168V NM_012341 NP_036473 Q9BZE4 NOG1_HUMAN G protein-binding protein CRFG 215 negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis nucleolus|perinuclear region of cytoplasm GTP binding|GTPase activity|protein binding ovary(1)|skin(1) 2 all_epithelial(10;0.107)|Colorectal(49;0.14) OV - Ovarian serous cystadenocarcinoma(33;0.0814) Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173) TTATAAGTATCTACGTTGGCA 0.303 NA 13 28 0 0 0 0 CUBN 8029 broad.mit.edu 37 10 16957859 16957859 + Missense_Mutation SNP C C G TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr10:16957859C>G uc001ioo.2 - 46 7223 c.7171G>C c.(7171-7173)GAA>CAA p.E2391Q NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 2391 CUB 17. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) AAGTCTTTTTCACAGCCAGAA 0.413 NA 18 39 0 0 0 0 KIAA1217 56243 broad.mit.edu 37 10 24669819 24669819 + Missense_Mutation SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr10:24669819C>T uc001iru.3 + 3 779 c.376C>T c.(376-378)CAC>TAC p.H126Y KIAA1217_uc001irs.2_Missense_Mutation_p.H46Y|KIAA1217_uc001irt.3_Missense_Mutation_p.H126Y|KIAA1217_uc010qcy.1_Missense_Mutation_p.H126Y|KIAA1217_uc010qcz.1_Missense_Mutation_p.H126Y|KIAA1217_uc001irv.1_5'UTR|KIAA1217_uc010qda.1_RNA NM_019590 NP_062536 Q5T5P2 SKT_HUMAN sickle tail isoform 1 126 embryonic skeletal system development cytoplasm ovary(5)|skin(2) 7 CAAACTGTCTCACAGTCCTCA 0.468 NA 17 45 0 0 0 0 BAMBI 25805 broad.mit.edu 37 10 28971090 28971090 + Missense_Mutation SNP G G C TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr10:28971090G>C uc001iuj.1 + 3 946 c.543G>C c.(541-543)AAG>AAC p.K181N BAMBI_uc001iui.2_3'UTR NM_012342 NP_036474 Q13145 BAMBI_HUMAN BMP and activin membrane-bound inhibitor 181 Cytoplasmic (Potential). cell migration|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|positive regulation of protein binding|positive regulation of transcription, DNA-dependent|regulation of cell shape cytoplasm|integral to membrane|plasma membrane frizzled binding|type II transforming growth factor beta receptor binding central_nervous_system(4) 4 GTGAAAATAAGAGGCTGCAGG 0.507 NA 18 46 0 0 0 0 PCDH15 65217 broad.mit.edu 37 10 55582664 55582664 + Missense_Mutation SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr10:55582664C>T uc001jju.1 - 33 5217 c.4822G>A c.(4822-4824)GAA>AAA p.E1608K PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.E1605K|PCDH15_uc010qhw.1_Missense_Mutation_p.E1568K|PCDH15_uc010qhx.1_Missense_Mutation_p.E1539K|PCDH15_uc010qhy.1_Missense_Mutation_p.E1615K|PCDH15_uc010qhz.1_Missense_Mutation_p.E1610K|PCDH15_uc010qia.1_Missense_Mutation_p.E1588K|PCDH15_uc010qib.1_Missense_Mutation_p.E1585K NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 1608 Cytoplasmic (Potential). equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) TTTTCATTTTCAGCTTTCTGC 0.443 NA HNSCC(58;0.16) 75 85 0 0 0 0 PHYHIPL 84457 broad.mit.edu 37 10 60936718 60936718 + Silent SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr10:60936718C>T uc001jkk.3 + 1 371 c.105C>T c.(103-105)GAC>GAT p.D35D PHYHIPL_uc001jkl.3_Translation_Start_Site|PHYHIPL_uc001jkm.3_5'Flank NM_032439 NP_115815 Q96FC7 PHIPL_HUMAN phytanoyl-CoA 2-hydroxylase interacting 35 0 GCGACCGGGACGGTAAGAGCG 0.697 NA 6 18 0 0 0 0 ZNF503 84858 broad.mit.edu 37 10 77158680 77158680 + Missense_Mutation SNP G G C TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr10:77158680G>C uc001jxg.2 - 2 2104 c.1768C>G c.(1768-1770)CGC>GGC p.R590G C10orf41_uc010qlf.1_5'Flank NM_032772 NP_116161 Q96F45 ZN503_HUMAN zinc finger protein 503 590 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding ovary(1) 1 all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088) TGGGGGCTGCGCAGCGCCAGC 0.751 NA 5 9 0 0 0 0 WAPAL 23063 broad.mit.edu 37 10 88277758 88277758 + Silent SNP G G C TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr10:88277758G>C uc001kdo.2 - 2 511 c.69C>G c.(67-69)GTC>GTG p.V23V WAPAL_uc001kdn.2_Silent_p.V66V|WAPAL_uc009xsw.2_Silent_p.V23V|WAPAL_uc010qmh.1_Silent_p.V23V|WAPAL_uc010qmi.1_Silent_p.V60V|WAPAL_uc010qmj.1_Silent_p.V23V NM_015045 NP_055860 Q7Z5K2 WAPL_HUMAN wings apart-like homolog 23 Mediates interaction with the cohesin complex. cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin chromatin|cohesin complex|cytoplasm protein binding ovary(1) 1 TGTTGGAAAAGACTTCATCGA 0.398 NA 4 49 0 0 0 0 LCOR 84458 broad.mit.edu 37 10 98714869 98714869 + Silent SNP G G A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr10:98714869G>A uc001kms.1 + 8 1013 c.492G>A c.(490-492)CTG>CTA p.L164L LCOR_uc001kmr.2_Silent_p.L164L|C10orf12_uc009xvg.1_Intron|LCOR_uc001kmt.1_Silent_p.L164L|LCOR_uc001kmu.1_Silent_p.L164L NM_032440 NP_115816 Q96JN0 LCOR_HUMAN ligand dependent nuclear receptor corepressor 164 nucleus DNA binding ovary(3) 3 Colorectal(252;0.162) Epithelial(162;4.43e-09)|all cancers(201;2.96e-07) AAGAACTACTGAGCAGAAACC 0.478 NA 21 31 0 0 0 0 KNDC1 85442 broad.mit.edu 37 10 135015069 135015069 + Silent SNP G G A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr10:135015069G>A uc001llz.1 + 17 3055 c.3054G>A c.(3052-3054)TCG>TCA p.S1018S KNDC1_uc001lma.1_Silent_p.S953S|KNDC1_uc001lmb.1_Silent_p.S430S NM_152643 NP_689856 Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) 1018 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) CCTCGGTGTCGGATGTGGACT 0.617 NA 36 68 0 0 0 0 KNDC1 85442 broad.mit.edu 37 10 135015189 135015189 + Silent SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr10:135015189C>T uc001llz.1 + 17 3175 c.3174C>T c.(3172-3174)GGC>GGT p.G1058G KNDC1_uc001lma.1_Silent_p.G993G|KNDC1_uc001lmb.1_Silent_p.G470G NM_152643 NP_689856 Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) 1058 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) GGCCAGCTGGCGGGGCCTCAG 0.682 NA 11 34 0 0 0 0 EPS8L2 64787 broad.mit.edu 37 11 721618 721618 + Silent SNP G G A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr11:721618G>A uc001lqt.2 + 10 1069 c.822G>A c.(820-822)CAG>CAA p.Q274Q EPS8L2_uc010qwj.1_Silent_p.Q290Q|EPS8L2_uc001lqu.2_Silent_p.Q274Q|EPS8L2_uc010qwk.1_Silent_p.Q290Q|EPS8L2_uc001lqv.2_Silent_p.Q229Q|EPS8L2_uc001lqw.2_5'UTR|EPS8L2_uc001lqx.2_5'Flank|EPS8L2_uc001lqy.2_5'Flank NM_022772 NP_073609 Q9H6S3 ES8L2_HUMAN epidermal growth factor receptor pathway 274 cytoplasm pancreas(1) 1 all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703) CCCGGCTGCAGAAGGCAGCCG 0.557 NA 29 54 0 0 0 0 EPS8L2 64787 broad.mit.edu 37 11 721628 721628 + Missense_Mutation SNP G G A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr11:721628G>A uc001lqt.2 + 10 1079 c.832G>A c.(832-834)GAG>AAG p.E278K EPS8L2_uc010qwj.1_Missense_Mutation_p.E294K|EPS8L2_uc001lqu.2_Missense_Mutation_p.E278K|EPS8L2_uc010qwk.1_Missense_Mutation_p.E294K|EPS8L2_uc001lqv.2_Missense_Mutation_p.E233K|EPS8L2_uc001lqw.2_5'UTR|EPS8L2_uc001lqx.2_5'Flank|EPS8L2_uc001lqy.2_5'Flank NM_022772 NP_073609 Q9H6S3 ES8L2_HUMAN epidermal growth factor receptor pathway 278 cytoplasm pancreas(1) 1 all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703) GAAGGCAGCCGAGGCTTTCAA 0.517 NA 27 50 0 0 0 0 KRTAP5-4 387267 broad.mit.edu 37 11 1642989 1642989 + Missense_Mutation SNP C C A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr11:1642989C>A uc009ycy.1 - 3 560 c.473G>T c.(472-474)GGC>GTC p.G158V NM_001012709 NP_001012727 Q6L8H1 KRA54_HUMAN keratin associated protein 5-4 172 9 X 4 AA repeats of C-C-X-P. keratin filament 0 all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) CCCACAGGAGCCACAGCCCCC 0.677 NA 9 81 0.00244969 0.00325412 1 0 NUP98 4928 broad.mit.edu 37 11 3740767 3740767 + Missense_Mutation SNP G G C TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr11:3740767G>C uc001lyh.2 - 18 2565 c.2274C>G c.(2272-2274)ATC>ATG p.I758M NUP98_uc001lyi.2_Missense_Mutation_p.I758M|NUP98_uc001lyj.1_Missense_Mutation_p.I758M|NUP98_uc001lyk.1_Missense_Mutation_p.I775M NM_016320 NP_057404 P52948 NUP98_HUMAN nucleoporin 98kD isoform 1 775 Peptidase S59. carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1) 12 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) CTTCAAAATAGATTGAACCAT 0.308 NA T HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11 AML 9 23 0 0 0 0 SYT9 143425 broad.mit.edu 37 11 7334938 7334938 + Silent SNP A A G TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr11:7334938A>G uc001mfe.2 + 3 1047 c.810A>G c.(808-810)ACA>ACG p.T270T SYT9_uc001mfd.2_RNA|SYT9_uc009yfi.2_Intron NM_175733 NP_783860 Q86SS6 SYT9_HUMAN synaptotagmin IX 270 Cytoplasmic (Potential).|C2 1. cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity ovary(2)|large_intestine(1) 3 Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949) ATCGGAAAACAAAACACCAGA 0.423 NA 9 184 0 0 0 0 ST5 6764 broad.mit.edu 37 11 8724164 8724164 + Nonsense_Mutation SNP G G C TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr11:8724164G>C uc001mgt.2 - 14 2861 c.2675C>G c.(2674-2676)TCA>TGA p.S892* ST5_uc009yfr.2_Nonsense_Mutation_p.S472*|ST5_uc001mgu.2_Nonsense_Mutation_p.S472*|ST5_uc001mgv.2_Nonsense_Mutation_p.S892*|ST5_uc010rbp.1_Nonsense_Mutation_p.S405*|ST5_uc009yfs.2_RNA NM_213618 NP_998783 P78524 ST5_HUMAN suppression of tumorigenicity 5 isoform 1 892 DENN. positive regulation of ERK1 and ERK2 cascade protein binding upper_aerodigestive_tract(1) 1 Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352) CAGCAGCAGTGAGGCAAAGAT 0.592 NA 16 55 0 0 0 0 ARNTL 406 broad.mit.edu 37 11 13397291 13397291 + Missense_Mutation SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr11:13397291C>T uc001mkr.2 + 15 1715 c.1307C>T c.(1306-1308)TCA>TTA p.S436L ARNTL_uc001mko.2_Missense_Mutation_p.S392L|ARNTL_uc001mkp.2_Missense_Mutation_p.S435L|ARNTL_uc001mkq.2_Missense_Mutation_p.S435L|ARNTL_uc001mks.2_Missense_Mutation_p.S393L|ARNTL_uc001mkt.2_Missense_Mutation_p.S436L|ARNTL_uc001mku.2_RNA|ARNTL_uc009ygm.1_Missense_Mutation_p.S275L|ARNTL_uc001mkw.2_Missense_Mutation_p.S393L|ARNTL_uc001mkx.2_Missense_Mutation_p.S434L|ARNTL_uc001mky.2_5'UTR NM_001178 NP_001169 O00327 BMAL1_HUMAN aryl hydrocarbon receptor nuclear 436 PAC. circadian rhythm|positive regulation of transcription from RNA polymerase II promoter transcription factor complex aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity 0 Epithelial(150;0.0243) TATATTGTCTCAACTAACACT 0.403 NA 12 21 0 0 0 0 MYBPC3 4607 broad.mit.edu 37 11 47353698 47353698 + Missense_Mutation SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr11:47353698C>T uc001nfa.3 - 32 3794 c.3739G>A c.(3739-3741)GAC>AAC p.D1247N NM_000256 NP_000247 Q14896 MYPC3_HUMAN myosin binding protein C, cardiac 1246 Ig-like C2-type 7. cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis C zone|cytosol|striated muscle myosin thick filament actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding ovary(2)|central_nervous_system(1) 3 Lung(87;0.176) ATGCCCCCGTCAAAGGGGCAG 0.627 NA 28 48 0 0 0 0 OR4S2 219431 broad.mit.edu 37 11 55418944 55418944 + Nonsense_Mutation SNP G G T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr11:55418944G>T uc001nhs.1 + 1 565 c.565G>T c.(565-567)GAA>TAA p.E189* NM_001004059 NP_001004059 Q8NH73 OR4S2_HUMAN olfactory receptor, family 4, subfamily S, 189 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_epithelial(135;0.0748) TGCCTGCACAGAAACATACAT 0.438 NA 35 170 9.18e-22 1.29e-21 1 0 SMTNL1 219537 broad.mit.edu 37 11 57310335 57310335 + Missense_Mutation SNP G G C TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr11:57310335G>C uc009ymh.1 + 2 274 c.274G>C c.(274-276)GAT>CAT p.D92H NM_001105565 NP_001099035 E9PPJ3 E9PPJ3_HUMAN smoothelin-like 1 74 ovary(1) 1 AAATGGATTAGATGAGGTCAA 0.542 NA 3 8 0 0 0 0 OSBP 5007 broad.mit.edu 37 11 59377944 59377944 + Silent SNP G G A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr11:59377944G>A uc001noc.1 - 2 961 c.481C>T c.(481-483)CTG>TTG p.L161L NM_002556 NP_002547 P22059 OSBP1_HUMAN oxysterol binding protein 161 PH. lipid transport Golgi membrane oxysterol binding large_intestine(1) 1 all_epithelial(135;0.000236) BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207) CTAGCTTTCAGATGGTAGGTC 0.557 NA 28 75 0 0 0 0 CABP4 57010 broad.mit.edu 37 11 67223246 67223246 + Nonsense_Mutation SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr11:67223246C>T uc001olo.2 + 1 429 c.352C>T c.(352-354)CGA>TGA p.R118* CABP4_uc001oln.2_5'UTR NM_145200 NP_660201 P57796 CABP4_HUMAN calcium binding protein 4 118 visual perception cytoplasm|extracellular region|terminal button calcium ion binding 0 BRCA - Breast invasive adenocarcinoma(15;8.18e-06) CCTGCTCAATCGAGTCTTCGG 0.662 NA 6 11 0 0 0 0 MTL5 9633 broad.mit.edu 37 11 68514686 68514686 + Missense_Mutation SNP G G T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr11:68514686G>T uc001ooc.2 - 3 760 c.620C>A c.(619-621)TCC>TAC p.S207Y MTL5_uc001ood.1_Missense_Mutation_p.S207Y|MTL5_uc009ysi.1_Missense_Mutation_p.S207Y|MTL5_uc001ooe.2_Missense_Mutation_p.S207Y NM_004923 NP_004914 Q9Y4I5 MTL5_HUMAN metallothionein-like 5, testis-specific isoform 207 cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis cytoplasm|nucleus|soluble fraction metal ion binding ovary(2)|breast(1) 3 Esophageal squamous(3;4.37e-12) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185) CATTGGGTTGGAATCTTTCTT 0.418 NA 11 31 1.62e-10 2.23e-10 1 0 GDPD5 81544 broad.mit.edu 37 11 75148046 75148046 + Missense_Mutation SNP A A G TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr11:75148046A>G uc001owo.3 - 17 2141 c.1604T>C c.(1603-1605)CTG>CCG p.L535P GDPD5_uc001owp.3_Missense_Mutation_p.L535P|GDPD5_uc001own.3_Missense_Mutation_p.L290P|GDPD5_uc009yuc.2_Missense_Mutation_p.L397P|GDPD5_uc009yud.2_Missense_Mutation_p.L416P NM_030792 NP_110419 Q8WTR4 GDPD5_HUMAN glycerophosphodiester phosphodiesterase domain 535 Cytoplasmic (Potential). glycerol metabolic process|lipid metabolic process|nervous system development endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm glycerophosphodiester phosphodiesterase activity ovary(1) 1 CGCAGCACTCAGCATGATCTG 0.622 NA 13 33 0 0 0 0 SERPINH1 871 broad.mit.edu 37 11 75277820 75277820 + Silent SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr11:75277820C>T uc001owr.2 + 2 655 c.426C>T c.(424-426)TTC>TTT p.F142F SERPINH1_uc009yuf.2_Silent_p.F142F|SERPINH1_uc009yug.2_Silent_p.F142F|SERPINH1_uc001ows.2_Silent_p.F142F|SERPINH1_uc001owt.2_5'Flank NM_001235 NP_001226 P50454 SERPH_HUMAN serine (or cysteine) proteinase inhibitor, clade 142 regulation of proteolysis|response to unfolded protein endoplasmic reticulum lumen|ER-Golgi intermediate compartment collagen binding|serine-type endopeptidase inhibitor activity ovary(2) 2 Ovarian(111;0.11) CAGTGAGCTTCGCTGATGACT 0.627 NA 8 38 0 0 0 0 THRSP 7069 broad.mit.edu 37 11 77775068 77775068 + Silent SNP C C G TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr11:77775068C>G uc001oyx.2 + 1 162 c.141C>G c.(139-141)GGC>GGG p.G47G NM_003251 NP_003242 Q92748 THRSP_HUMAN thyroid hormone-responsive protein 47 lipid biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus breast(1) 1 all_cancers(14;2.23e-19)|all_epithelial(13;7.49e-22)|Breast(9;6.38e-17)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;2.15e-25) GGCCTGGGGGCCAGGCCCAGG 0.637 NA 19 105 0 0 0 0 DSCAML1 57453 broad.mit.edu 37 11 117308639 117308639 + Missense_Mutation SNP C C G TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr11:117308639C>G uc001prh.1 - 25 4586 c.4584G>C c.(4582-4584)GAG>GAC p.E1528D NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 1468 Fibronectin type-III 5.|Extracellular (Potential). axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1) 8 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) CCTCGATGATCTCGCTGATGC 0.662 NA 3 27 0 0 0 0 CHD4 1108 broad.mit.edu 37 12 6709458 6709459 + Missense_Mutation DNP GG GG TA TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr12:6709458_6709459GG>TA uc001qpo.2 - 9 1330_1331 c.1166_1167CC>TA c.(1165-1167)CCC>CTA p.P389L CHD4_uc001qpn.2_Missense_Mutation_p.P382L|CHD4_uc001qpp.2_Missense_Mutation_p.P386L NM_001273 NP_001264 Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 389 PHD-type 1. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 GGTAAGCACGGGGACAGGTATC 0.594 NA 15 99 0 0 0 0 PTPN6 5777 broad.mit.edu 37 12 7069304 7069304 + Missense_Mutation SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr12:7069304C>T uc001qsb.2 + 13 1725 c.1483C>T c.(1483-1485)CGC>TGC p.R495C PTPN6_uc001qsa.1_Missense_Mutation_p.R497C|PTPN6_uc010sfr.1_Missense_Mutation_p.R456C|PTPN6_uc009zfl.1_Missense_Mutation_p.R495C|PTPN6_uc010sfs.1_Missense_Mutation_p.R483C NM_002831 NP_002822 P29350 PTN6_HUMAN protein tyrosine phosphatase, non-receptor type 495 Tyrosine-protein phosphatase. apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway cytosol|membrane|nucleus protein binding|protein tyrosine phosphatase activity breast(1) 1 GCGGGCGCAGCGCTCGGGCAT 0.592 NA 10 42 0 0 0 0 TAS2R14 50840 broad.mit.edu 37 12 11091369 11091369 + Silent SNP T T C TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr12:11091369T>C uc010shi.1 - 1 438 c.438A>G c.(436-438)GCA>GCG p.A146A PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron NM_023922 NP_076411 Q9NYV8 T2R14_HUMAN taste receptor, type 2, member 14 146 Helical; Name=4; (Potential). detection of chemical stimulus involved in sensory perception of bitter taste bitter taste receptor activity 0 TGTTTATCAGTGCAATATTTA 0.343 NA 16 37 0 0 0 0 SLC4A8 9498 broad.mit.edu 37 12 51868959 51868959 + Missense_Mutation SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr12:51868959C>T uc001rys.1 + 16 2319 c.2141C>T c.(2140-2142)ACG>ATG p.T714M SLC4A8_uc001rym.2_Missense_Mutation_p.T661M|SLC4A8_uc001ryn.2_Missense_Mutation_p.T661M|SLC4A8_uc001ryo.2_Missense_Mutation_p.T661M|SLC4A8_uc010snj.1_Missense_Mutation_p.T741M|SLC4A8_uc001ryr.2_Missense_Mutation_p.T714M|SLC4A8_uc010snk.1_Missense_Mutation_p.T661M NM_001039960 NP_001035049 Q2Y0W8 S4A8_HUMAN solute carrier family 4, sodium bicarbonate 714 Cytoplasmic (Potential). bicarbonate transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity ovary(3)|pancreas(1)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(357;0.15) ACCTTAAAGACGTTTAAGACG 0.443 NA 5 80 0 0 0 0 KRT1 3848 broad.mit.edu 37 12 53071509 53071509 + Missense_Mutation SNP C C A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr12:53071509C>A uc001sau.1 - 4 947 c.888G>T c.(886-888)ATG>ATT p.M296I KRT1_uc001sav.1_Missense_Mutation_p.M296I NM_006121 NP_006112 P04264 K2C1_HUMAN keratin 1 296 Coil 1B.|Rod. complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress plasma membrane protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding ovary(1)|skin(1) 2 CCACCTTGGTCATATAAGCAC 0.478 NA 25 60 7.93e-12 1.1e-11 1 0 ERBB3 2065 broad.mit.edu 37 12 56477581 56477581 + Silent SNP G G A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr12:56477581G>A uc001sjh.2 + 2 322 c.129G>A c.(127-129)GAG>GAA p.E43E ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_5'UTR|ERBB3_uc001sjg.2_Silent_p.E43E NM_001982 NP_001973 P21860 ERBB3_HUMAN erbB-3 isoform 1 precursor 43 Extracellular (Potential). cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) GCGATGCTGAGAACCAATACC 0.547 NA 51 138 0 0 0 0 ERBB3 2065 broad.mit.edu 37 12 56481620 56481620 + Missense_Mutation SNP T T C TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr12:56481620T>C uc001sjh.2 + 6 848 c.655T>C c.(655-657)TTT>CTT p.F219L ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.F160L|ERBB3_uc001sji.2_5'Flank NM_001982 NP_001973 P21860 ERBB3_HUMAN erbB-3 isoform 1 precursor 219 Extracellular (Potential). cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) TGGTCACTGCTTTGGGCCCAA 0.547 NA 26 89 0 0 0 0 CAND1 55832 broad.mit.edu 37 12 67706416 67706416 + Missense_Mutation SNP G G C TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr12:67706416G>C uc001stn.2 + 15 3936 c.3499G>C c.(3499-3501)GAA>CAA p.E1167Q CAND1_uc001sto.2_Missense_Mutation_p.E677Q NM_018448 NP_060918 Q86VP6 CAND1_HUMAN TIP120 protein 1167 HEAT 27. cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|ubiquitin ligase complex protein binding central_nervous_system(1)|skin(1) 2 GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196) GBM - Glioblastoma multiforme(28;0.0279) GCAGGAGTTTGAAAAACAAGA 0.393 NA 9 18 0 0 0 0 LRRIQ1 84125 broad.mit.edu 37 12 85434273 85434273 + Silent SNP A A G TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr12:85434273A>G uc001tac.2 + 3 249 c.138A>G c.(136-138)TCA>TCG p.S46S LRRIQ1_uc001tab.1_Silent_p.S46S|LRRIQ1_uc001taa.1_Silent_p.S46S|LRRIQ1_uc001tad.2_5'UTR NM_001079910 NP_001073379 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 46 ovary(4)|central_nervous_system(1)|skin(1) 6 GBM - Glioblastoma multiforme(134;0.212) TTTAGGATTCAGTTGAATTAC 0.328 NA 22 53 0 0 0 0 STAB2 55576 broad.mit.edu 37 12 104063327 104063327 + Silent SNP G G A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr12:104063327G>A uc001tjw.2 + 21 2367 c.2181G>A c.(2179-2181)AAG>AAA p.K727K NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN stabilin 2 precursor 727 Extracellular (Potential). angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity ovary(9)|skin(5) 14 AGATTCCAAAGTGCTGCAAAG 0.438 NA 4 79 0 0 0 0 HCFC2 29915 broad.mit.edu 37 12 104461751 104461751 + Silent SNP G G C TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr12:104461751G>C uc001tkj.3 + 3 442 c.339G>C c.(337-339)GTG>GTC p.V113V HCFC2_uc009zul.2_RNA NM_013320 NP_037452 Q9Y5Z7 HCFC2_HUMAN host cell factor C2 113 Kelch 2. regulation of transcription from RNA polymerase II promoter|viral reproduction cytoplasm|nucleus transcription coactivator activity ovary(2)|central_nervous_system(1) 3 GGAAAAAAGTGAAACCCCATC 0.408 NA 53 119 0 0 0 0 ACAD10 80724 broad.mit.edu 37 12 112183993 112183993 + Missense_Mutation SNP G G C TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr12:112183993G>C uc001tsq.2 + 14 2361 c.2161G>C c.(2161-2163)GAG>CAG p.E721Q ACAD10_uc001tsp.2_Missense_Mutation_p.E721Q|ACAD10_uc009zvx.2_Missense_Mutation_p.E752Q|ACAD10_uc001tss.1_RNA NM_025247 NP_079523 Q6JQN1 ACD10_HUMAN acyl-Coenzyme A dehydrogenase family, member 10 721 acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups ovary(2) 2 CCTACCCTTAGAGGCTGATCC 0.468 NA 21 44 0 0 0 0 KNTC1 9735 broad.mit.edu 37 12 123102942 123102942 + Nonsense_Mutation SNP C C G TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr12:123102942C>G uc001ucv.2 + 58 6246 c.6083C>G c.(6082-6084)TCA>TGA p.S2028* KNTC1_uc010taf.1_Nonsense_Mutation_p.S953* NM_014708 NP_055523 P50748 KNTC1_HUMAN Rough Deal homolog, centromere/kinetochore 2028 cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole protein binding ovary(5)|kidney(3)|lung(1)|central_nervous_system(1) 10 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217) CCACTGCTTTCAGGTATTTCG 0.393 NA 11 24 0 0 0 0 GPR81 27198 broad.mit.edu 37 12 123214171 123214171 + Missense_Mutation SNP G G A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr12:123214171G>A uc001ucz.2 - 1 959 c.716C>T c.(715-717)GCT>GTT p.A239V GPR81_uc001ucw.1_RNA NM_032554 NP_115943 Q9BXC0 HCAR1_HUMAN G protein-coupled receptor 81 239 Helical; Name=6; (Potential). response to estradiol stimulus integral to membrane|plasma membrane G-protein coupled receptor activity 0 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.14e-05)|Epithelial(86;3.25e-05)|BRCA - Breast invasive adenocarcinoma(302;0.197) ATAGAGTCTAGCAGACACGCT 0.572 NA 23 45 0 0 0 0 DDX55 57696 broad.mit.edu 37 12 124092179 124092179 + Missense_Mutation SNP G G A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr12:124092179G>A uc001ufi.2 + 5 395 c.371G>A c.(370-372)GGA>GAA p.G124E DDX55_uc001ufh.2_5'UTR|DDX55_uc001ufj.1_Intron|DDX55_uc001ufk.2_5'UTR NM_020936 NP_065987 Q8NHQ9 DDX55_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 55 124 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|RNA binding ovary(1) 1 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772) AGGAATCCTGGAGAAGATGTT 0.443 NA 42 129 0 0 0 0 IFT88 8100 broad.mit.edu 37 13 21172820 21172820 + Missense_Mutation SNP G G T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr13:21172820G>T uc001unh.2 + 12 1048 c.652G>T c.(652-654)GTT>TTT p.V218F IFT88_uc001uni.2_Missense_Mutation_p.V209F|IFT88_uc001unj.2_Missense_Mutation_p.V208F|IFT88_uc010tcq.1_Missense_Mutation_p.V189F|IFT88_uc001unk.2_5'UTR NM_175605 NP_783195 Q13099 IFT88_HUMAN intraflagellar transport 88 homolog isoform 1 218 TPR 1. cilium morphogenesis centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum protein binding ovary(1) 1 all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244) all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528) TCAGTATTCAGTTAATGAAAT 0.323 NA 9 81 2.81e-09 3.86e-09 1 0 SLC7A1 6541 broad.mit.edu 37 13 30091803 30091803 + Missense_Mutation SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr13:30091803C>T uc001uso.2 - 10 1804 c.1417G>A c.(1417-1419)GAG>AAG p.E473K NM_003045 NP_003036 P30825 CTR1_HUMAN solute carrier family 7 (cationic amino acid 473 Cytoplasmic (Potential). cellular nitrogen compound metabolic process|ion transport integral to plasma membrane receptor activity 0 Lung SC(185;0.0257)|Breast(139;0.238) all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) GAGAACATCTCTGCCTCTGGT 0.453 NA 10 88 0 0 0 0 SERPINE3 647174 broad.mit.edu 37 13 51922447 51922447 + Missense_Mutation SNP G G C TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr13:51922447G>C uc001vfh.2 + 4 859 c.799G>C c.(799-801)GAC>CAC p.D267H SERPINE3_uc010tgp.1_Missense_Mutation_p.D267H NM_001101320 NP_001094790 A8MV23 SERP3_HUMAN nexin-related serine protease inhibitor 267 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity ovary(2) 2 CCGTGACAAAGACACCCCCCT 0.612 NA 16 22 0 0 0 0 MYCBP2 23077 broad.mit.edu 37 13 77667369 77667369 + Missense_Mutation SNP G G A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr13:77667369G>A uc001vkf.2 - 60 10275 c.10184C>T c.(10183-10185)TCA>TTA p.S3395L MYCBP2_uc010aev.2_Missense_Mutation_p.S2799L|MYCBP2_uc001vke.2_Missense_Mutation_p.S15L NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 3395 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1) 14 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) AGGAGTTACTGATATATACGG 0.393 NA 5 80 0 0 0 0 KDELC1 79070 broad.mit.edu 37 13 103450951 103450951 + Missense_Mutation SNP C C G TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr13:103450951C>G uc001vpq.3 - 1 454 c.70G>C c.(70-72)GAA>CAA p.E24Q KDELC1_uc001vpr.3_5'UTR|BIVM_uc001vps.2_5'Flank|BIVM_uc010agc.2_5'Flank NM_024089 NP_076994 Q6UW63 KDEL1_HUMAN KDEL (Lys-Asp-Glu-Leu) containing 1 precursor 24 Filamin. endoplasmic reticulum lumen ovary(1) 1 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) AGCTGCCTTTCTCCGCCGGTC 0.532 NA 20 28 0 0 0 0 C13orf16 121793 broad.mit.edu 37 13 111996452 111996452 + Silent SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr13:111996452C>T uc001vsa.2 + 6 567 c.438C>T c.(436-438)GCC>GCT p.A146A NM_152324 NP_689537 Q8N6K0 CM016_HUMAN hypothetical protein LOC121793 146 Cytoplasmic (Potential). integral to membrane 0 all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) all cancers(43;0.113)|GBM - Glioblastoma multiforme(44;0.174)|BRCA - Breast invasive adenocarcinoma(86;0.188) TAACAGAAGCCGAAGAAACTG 0.383 NA 17 27 0 0 0 0 SOX1 6656 broad.mit.edu 37 13 112722212 112722212 + Silent SNP G G A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr13:112722212G>A uc001vsb.1 + 1 300 c.240G>A c.(238-240)GAG>GAA p.E80E NM_005986 NP_005977 O00570 SOX1_HUMAN SRY (sex determining region Y)-box 1 80 HMG box. 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) ACAACTCGGAGATCAGCAAGC 0.657 NA 22 23 0 0 0 0 JUB 84962 broad.mit.edu 37 14 23444286 23444286 + Missense_Mutation SNP G G A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr14:23444286G>A uc001whz.2 - 5 1643 c.1267C>T c.(1267-1269)CAT>TAT p.H423Y JUB_uc001why.2_Missense_Mutation_p.H6Y NM_032876 NP_116265 Q96IF1 JUB_HUMAN ajuba isoform 1 423 LIM zinc-binding 2. cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center alpha-catenin binding|zinc ion binding 0 all_cancers(95;4.6e-05) GBM - Glioblastoma multiforme(265;0.0122) CAGCCTGGATGATAGGACTTC 0.512 NA 21 52 0 0 0 0 CDH24 64403 broad.mit.edu 37 14 23518917 23518917 + Missense_Mutation SNP C C G TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr14:23518917C>G uc001wil.2 - 11 1890 c.1630G>C c.(1630-1632)GAT>CAT p.D544H CDH24_uc001wik.3_RNA|CDH24_uc010akf.2_Missense_Mutation_p.D506H NM_022478 NP_071923 Q86UP0 CAD24_HUMAN cadherin-like 24 isoform 1 544 Cadherin 5.|Extracellular (Potential). adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion cell-cell junction|cell-cell junction|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding central_nervous_system(1) 1 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.00654) CCAACTTCATCTCTGTCCAGG 0.582 NA 8 16 0 0 0 0 PRKD1 5587 broad.mit.edu 37 14 30046490 30046490 + Missense_Mutation SNP T T A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr14:30046490T>A uc001wqh.2 - 18 2874 c.2693A>T c.(2692-2694)GAA>GTA p.E898V NM_002742 NP_002733 Q15139 KPCD1_HUMAN protein kinase D1 898 cell proliferation|intracellular signal transduction|sphingolipid metabolic process cytosol|integral to plasma membrane ATP binding|metal ion binding|protein binding|protein kinase C activity lung(3)|large_intestine(2)|ovary(2)|skin(1) 8 Hepatocellular(127;0.0604) LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252) GBM - Glioblastoma multiforme(265;0.00888) TTCTGTTTCTTCAGTCTCAGG 0.493 NA 13 79 0 0 0 0 HEATR5A 25938 broad.mit.edu 37 14 31813139 31813139 + Missense_Mutation SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr14:31813139C>T uc001wrf.3 - 15 2389 c.2312G>A c.(2311-2313)CGA>CAA p.R771Q HEATR5A_uc010ami.2_Missense_Mutation_p.R669Q|HEATR5A_uc001wrg.1_Missense_Mutation_p.R653Q|HEATR5A_uc010tpk.1_Missense_Mutation_p.R1064Q NM_015473 NP_056288 Q86XA9 HTR5A_HUMAN HEAT repeat containing 5A 1058 binding ovary(1) 1 Hepatocellular(127;0.0877)|Breast(36;0.137) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.0059) GTTGACATGTCGTGGAGCAAA 0.428 NA 16 46 0 0 0 0 ATP6V1D 51382 broad.mit.edu 37 14 67815782 67815782 + Missense_Mutation SNP C C G TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr14:67815782C>G uc001xjf.2 - 4 455 c.279G>C c.(277-279)AAG>AAC p.K93N ATP6V1D_uc001xje.2_RNA NM_015994 NP_057078 Q9Y5K8 VATD_HUMAN H(+)-transporting two-sector ATPase 93 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|proton-transporting two-sector ATPase complex, catalytic domain|vacuolar proton-transporting V-type ATPase complex protein binding|proton-transporting ATPase activity, rotational mechanism ovary(1)|lung(1) 2 all cancers(60;0.000739)|OV - Ovarian serous cystadenocarcinoma(108;0.00597)|BRCA - Breast invasive adenocarcinoma(234;0.00957) TCGCTCGAATCTTCACTTGCG 0.368 NA 13 26 0 0 0 0 PLEKHH1 57475 broad.mit.edu 37 14 68022580 68022580 + Missense_Mutation SNP G G C TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr14:68022580G>C uc001xjl.1 + 3 307 c.165G>C c.(163-165)CAG>CAC p.Q55H NM_020715 NP_065766 Q9ULM0 PKHH1_HUMAN pleckstrin homology domain containing, family H 55 Potential. cytoskeleton binding 0 all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011) AGGCAGAGCAGAGAGCAGAGA 0.607 NA 4 23 0 0 0 0 ATXN3 4287 broad.mit.edu 37 14 92549555 92549555 + Missense_Mutation SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr14:92549555C>T uc001yac.3 - 7 592 c.523G>A c.(523-525)GAC>AAC p.D175N ATXN3_uc010aug.2_Missense_Mutation_p.D160N|ATXN3_uc001yad.3_Missense_Mutation_p.D120N|ATXN3_uc010auh.2_Missense_Mutation_p.D109N|ATXN3_uc001yae.3_Missense_Mutation_p.D77N|ATXN3_uc010twl.1_RNA NM_004993 NP_004984 P54252 ATX3_HUMAN ataxin 3 reference isoform 175 Josephin. cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent cytoplasm|nuclear matrix|nucleoplasm cysteine-type peptidase activity|protein binding 0 all_cancers(154;0.0768) COAD - Colon adenocarcinoma(157;0.224) AGGAGTTGGTCAGCTTCGCAA 0.373 NA 42 61 0 0 0 0 LGMN 5641 broad.mit.edu 37 14 93199105 93199105 + Silent SNP G G A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr14:93199105G>A uc001yav.2 - 3 353 c.27C>T c.(25-27)CTC>CTT p.L9L LGMN_uc001yat.2_Silent_p.L9L|LGMN_uc001yau.2_Silent_p.L9L|LGMN_uc001yaw.2_Silent_p.L9L|LGMN_uc010aul.2_5'UTR|LGMN_uc001yax.2_Silent_p.L9L|LGMN_uc001yay.2_Silent_p.L9L NM_001008530 NP_001008530 Q99538 LGMN_HUMAN legumain preproprotein 9 hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process lysosome cysteine-type endopeptidase activity|protein serine/threonine kinase activity skin(1) 1 all_cancers(154;0.0706) COAD - Colon adenocarcinoma(157;0.224) GGGCCACACTGAGGAATACAG 0.478 NA 22 65 0 0 0 0 KIAA1409 57578 broad.mit.edu 37 14 94083611 94083611 + Silent SNP G G A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr14:94083611G>A uc001ybv.1 + 26 3803 c.3720G>A c.(3718-3720)CGG>CGA p.R1240R KIAA1409_uc001ybs.1_Silent_p.R1218R NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 1395 integral to membrane ovary(10)|skin(4)|large_intestine(3) 17 all_cancers(154;0.0354)|all_epithelial(191;0.216) Epithelial(152;0.188) CTCACATCCGGCAGATGTGGT 0.498 NA 8 92 0 0 0 0 MAGEL2 54551 broad.mit.edu 37 15 23890608 23890608 + Missense_Mutation SNP G G T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr15:23890608G>T uc001ywj.3 - 1 568 c.473C>A c.(472-474)GCA>GAA p.A158E NM_019066 NP_061939 MAGE-like protein 2 0 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177) AGCTGACACTGCCTTGGGAGC 0.612 NA 4 40 0.00024832 0.000331919 1 0 DISP2 85455 broad.mit.edu 37 15 40662125 40662125 + Missense_Mutation SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr15:40662125C>T uc001zlk.1 + 8 3901 c.3812C>T c.(3811-3813)CCT>CTT p.P1271L NM_033510 NP_277045 A7MBM2 DISP2_HUMAN dispatched B 1271 smoothened signaling pathway integral to membrane ovary(2) 2 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247) GCCCACTCTCCTAAGGCCAAG 0.647 NA 15 42 0 0 0 0 LTK 4058 broad.mit.edu 37 15 41804949 41804949 + Silent SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr15:41804949C>T uc001zoa.3 - 3 493 c.315G>A c.(313-315)CTG>CTA p.L105L LTK_uc001zob.3_Silent_p.L105L|LTK_uc010ucx.1_Silent_p.L105L|LTK_uc010bcg.2_Intron NM_002344 NP_002335 P29376 LTK_HUMAN leukocyte receptor tyrosine kinase isoform 1 105 Extracellular (Potential). apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity lung(6)|central_nervous_system(1) 7 all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172) OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113) GCACGCCTCTCAGCTGCCCGG 0.697 NA TSP Lung(18;0.14) 7 15 0 0 0 0 ANKDD1A 348094 broad.mit.edu 37 15 65219178 65219178 + Missense_Mutation SNP G G C TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr15:65219178G>C uc002aoa.2 + 6 579 c.550G>C c.(550-552)GAC>CAC p.D184H ANKDD1A_uc002anx.1_Missense_Mutation_p.D180H|ANKDD1A_uc002any.2_Missense_Mutation_p.D93H|ANKDD1A_uc002anz.2_Missense_Mutation_p.D93H|ANKDD1A_uc002aob.2_Intron|ANKDD1A_uc002aoc.2_RNA|ANKDD1A_uc010bha.2_Missense_Mutation_p.D93H NM_182703 NP_874362 Q495B1 AKD1A_HUMAN ankyrin repeat and death domain containing 1A 184 ANK 5. signal transduction ovary(1) 1 CTCTGGCTGTGACCACAATGT 0.617 NA 4 81 0 0 0 0 MTFMT 123263 broad.mit.edu 37 15 65319319 65319319 + Nonsense_Mutation SNP G G C TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr15:65319319G>C uc002aof.3 - 2 295 c.269C>G c.(268-270)TCA>TGA p.S90* NM_139242 NP_640335 Q96DP5 FMT_HUMAN mitochondrial methionyl-tRNA formyltransferase 90 mitochondrion methionyl-tRNA formyltransferase activity|methyltransferase activity ovary(2) 2 Tetrahydrofolic acid(DB00116) TCCTTTTGGTGATGGGGAAGG 0.443 NA 12 43 0 0 0 0 GOLGA6A 342096 broad.mit.edu 37 15 74372982 74372982 + Missense_Mutation SNP G G C TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr15:74372982G>C uc002axa.1 - 2 220 c.179C>G c.(178-180)TCC>TGC p.S60C NM_001038640 NP_001033729 Q9NYA3 GOG6A_HUMAN golgi autoantigen, golgin subfamily a, 6 60 Potential. 0 GCAACCACCGGAAGTGGTTGT 0.463 NA 18 136 0 0 0 0 WDR90 197335 broad.mit.edu 37 16 712044 712044 + Missense_Mutation SNP G G A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr16:712044G>A uc002cii.1 + 32 4072 c.4018G>A c.(4018-4020)GAT>AAT p.D1340N WDR90_uc002cij.1_Intron|WDR90_uc002cik.1_Missense_Mutation_p.D867N|WDR90_uc002cil.1_RNA|WDR90_uc002cim.1_Missense_Mutation_p.D514N|WDR90_uc002cin.1_5'UTR|WDR90_uc010uul.1_5'Flank|WDR90_uc002cio.1_5'Flank|WDR90_uc010bqx.1_5'Flank NM_145294 NP_660337 Q96KV7 WDR90_HUMAN WD repeat domain 90 1340 WD 16. ovary(1) 1 Hepatocellular(780;0.0218) CTGGGAGGCGGATGACGGTGG 0.652 NA 10 30 0 0 0 0 C1QTNF8 390664 broad.mit.edu 37 16 1143809 1143809 + Silent SNP G G A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr16:1143809G>A uc010uuw.1 - 4 725 c.451C>T c.(451-453)CTG>TTG p.L151L NM_207419 NP_997302 P60827 C1QT8_HUMAN C1q and tumor necrosis factor related protein 8 151 C1q. collagen skin(1) 1 Hepatocellular(780;0.00369) CCCGCGGCCAGGTCGAAGGCG 0.667 NA 4 48 0 0 0 0 CASKIN1 57524 broad.mit.edu 37 16 2234836 2234836 + Missense_Mutation SNP G G A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr16:2234836G>A uc010bsg.1 - 14 1390 c.1358C>T c.(1357-1359)GCC>GTC p.A453V NM_020764 NP_065815 Q8WXD9 CSKI1_HUMAN CASK interacting protein 1 453 CASK-binding (By similarity). signal transduction cytoplasm skin(2) 2 GACCTGCCCGGCGTGGGCCAC 0.687 NA 7 29 0 0 0 0 BTBD12 84464 broad.mit.edu 37 16 3639184 3639184 + Silent SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr16:3639184C>T uc002cvp.2 - 12 5082 c.4455G>A c.(4453-4455)CAG>CAA p.Q1485Q NM_032444 NP_115820 Q8IY92 SLX4_HUMAN BTB (POZ) domain containing 12 1485 Interaction with MUS81.|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 GCAATTTCCTCTGGGTAGTGC 0.647 NA Direct_reversal_of_damage|Homologous_recombination Fanconi_Anemia 69 139 0 0 0 0 UBN1 29855 broad.mit.edu 37 16 4924969 4924969 + Missense_Mutation SNP G G A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr16:4924969G>A uc002cyb.2 + 15 2897 c.2558G>A c.(2557-2559)GGC>GAC p.G853D UBN1_uc010uxw.1_Missense_Mutation_p.G853D|UBN1_uc002cyc.2_Missense_Mutation_p.G853D NM_001079514 NP_001072982 Q9NPG3 UBN1_HUMAN ubinuclein 1 853 chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter PML body|tight junction DNA binding|sequence-specific DNA binding transcription factor activity skin(2) 2 AAAGGCCAGGGCTTCCATCCC 0.592 NA 5 84 0 0 0 0 ERCC4 2072 broad.mit.edu 37 16 14015908 14015908 + Silent SNP G G A rs61760162 TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr16:14015908G>A uc002dce.2 + 2 237 c.228G>A c.(226-228)CTG>CTA p.L76L ERCC4_uc010bva.2_Silent_p.L76L NM_005236 NP_005227 Q92889 XPF_HUMAN excision repair cross-complementing rodent 76 double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity lung(4)|ovary(3)|skin(2)|pancreas(1) 10 TCAATCAGCTGAAGATAGAAG 0.353 NA Mis|N|F skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum 5 17 0 0 0 0 C16orf45 89927 broad.mit.edu 37 16 15661909 15661909 + Silent SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr16:15661909C>T uc002ddo.2 + 3 486 c.300C>T c.(298-300)ATC>ATT p.I100I C16orf45_uc002ddp.2_Silent_p.I83I NM_033201 NP_149978 Q96MC5 CP045_HUMAN hypothetical protein LOC89927 isoform 1 100 ovary(1) 1 TGGTCGCCATCCCAGGTAACC 0.552 NA 6 14 0 0 0 0 CD19 930 broad.mit.edu 37 16 28944612 28944612 + Missense_Mutation SNP C C G TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr16:28944612C>G uc002drs.2 + 4 679 c.617C>G c.(616-618)TCT>TGT p.S206C uc010vct.1_Intron|CD19_uc010byo.1_Missense_Mutation_p.S206C NM_001770 NP_001761 P15391 CD19_HUMAN CD19 antigen precursor 206 Extracellular (Potential).|Ig-like C2-type 2. cellular defense response external side of plasma membrane|integral to plasma membrane protein binding|receptor signaling protein activity ovary(2)|central_nervous_system(1) 3 CCCCCTGACTCTGTGTCCAGG 0.612 NA 14 25 0 0 0 0 ZNF646 9726 broad.mit.edu 37 16 31092645 31092645 + Missense_Mutation SNP C C T rs80281572 byFrequency TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr16:31092645C>T uc002eap.2 + 2 5289 c.5000C>T c.(4999-5001)TCC>TTC p.S1667F NM_014699 NP_055514 O15015 ZN646_HUMAN zinc finger protein 646 1667 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(2) 2 GCGGTGACGTCCATGGCGGCT 0.662 NA 11 50 0 0 0 0 NLRC5 84166 broad.mit.edu 37 16 57060491 57060491 + Missense_Mutation SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr16:57060491C>T uc002ekk.1 + 6 1861 c.1636C>T c.(1636-1638)CGC>TGC p.R546C NLRC5_uc010ccq.1_RNA|NLRC5_uc002ekn.2_Missense_Mutation_p.R351C|NLRC5_uc002ekl.2_Missense_Mutation_p.R351C|NLRC5_uc002ekm.2_Missense_Mutation_p.R351C|NLRC5_uc010ccr.1_RNA NM_032206 NP_115582 Q86WI3 NLRC5_HUMAN nucleotide-binding oligomerization domains 27 546 defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding ovary(4)|skin(2)|breast(1) 7 all_neural(199;0.225) CCTCCATTCCCGCTGGGTACA 0.612 NA 74 84 0 0 0 0 COG4 25839 broad.mit.edu 37 16 70515274 70515274 + Silent SNP G G C TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr16:70515274G>C uc002ezc.2 - 18 2234 c.2223C>G c.(2221-2223)CTC>CTG p.L741L COG4_uc002eza.2_Silent_p.L78L|COG4_uc002ezb.2_Silent_p.L197L|COG4_uc010cfu.2_RNA|COG4_uc002ezd.2_Silent_p.L720L|COG4_uc002eze.2_Silent_p.L435L NM_015386 NP_056201 Q9H9E3 COG4_HUMAN component of oligomeric golgi complex 4 737 D domain. Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|Golgi transport complex protein binding 0 Ovarian(137;0.0694) GCTCCAGATTGAGGATGGTGG 0.592 NA 6 166 0 0 0 0 ZFHX3 463 broad.mit.edu 37 16 72992559 72992559 + Missense_Mutation SNP G G A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr16:72992559G>A uc002fck.2 - 2 2159 c.1486C>T c.(1486-1488)CCA>TCA p.P496S ZFHX3_uc002fcl.2_Intron NM_006885 NP_008816 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 isoform A 496 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(2)|skin(2) 4 Ovarian(137;0.13) AACTCGCTTGGAAAGAGTCCT 0.323 NA 32 48 0 0 0 0 KARS 3735 broad.mit.edu 37 16 75665700 75665700 + Silent SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr16:75665700C>T uc002feq.2 - 8 1017 c.969G>A c.(967-969)CGG>CGA p.R323R KARS_uc002fer.2_Silent_p.R351R|KARS_uc002fes.2_Silent_p.R167R NM_005548 NP_005539 Q15046 SYK_HUMAN lysyl-tRNA synthetase isoform 2 323 ATP. interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding ovary(2) 2 L-Lysine(DB00123) TCCCCTCATTCCGGAACTGGC 0.463 NA 72 100 0 0 0 0 PLCG2 5336 broad.mit.edu 37 16 81968079 81968079 + Missense_Mutation SNP G G A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr16:81968079G>A uc002fgt.2 + 26 2937 c.2785G>A c.(2785-2787)GAG>AAG p.E929K NM_002661 NP_002652 P16885 PLCG2_HUMAN phospholipase C, gamma 2 929 intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity large_intestine(4)|lung(2)|ovary(1)|skin(1) 8 CATCGCCATCGAGCTCTCTGA 0.478 NA 18 30 0 0 0 0 PRPF8 10594 broad.mit.edu 37 17 1582167 1582167 + Missense_Mutation SNP C C G TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr17:1582167C>G uc002fte.2 - 12 1722 c.1608G>C c.(1606-1608)AAG>AAC p.K536N NM_006445 NP_006436 Q6P2Q9 PRP8_HUMAN U5 snRNP-specific protein 536 catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding lung(4)|ovary(2) 6 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) AACGAGATTTCTTTCTTTCCT 0.468 NA 6 43 0 0 0 0 PRPF8 10594 broad.mit.edu 37 17 1582626 1582626 + Silent SNP C C G TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr17:1582626C>G uc002fte.2 - 10 1482 c.1368G>C c.(1366-1368)CTG>CTC p.L456L NM_006445 NP_006436 Q6P2Q9 PRP8_HUMAN U5 snRNP-specific protein 456 catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding lung(4)|ovary(2) 6 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) TCAGGGCATTCAGCACATAGT 0.542 NA 8 66 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7577085 7577085 + Missense_Mutation SNP C C T rs112431538 TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr17:7577085C>T uc002gim.2 - 8 1047 c.853G>A c.(853-855)GAG>AAG p.E285K TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.E285K|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.E153K|TP53_uc010cng.1_Missense_Mutation_p.E153K|TP53_uc002gii.1_Missense_Mutation_p.E153K|TP53_uc010cnh.1_Missense_Mutation_p.E285K|TP53_uc010cni.1_Missense_Mutation_p.E285K|TP53_uc002gij.2_Missense_Mutation_p.E285K NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 285 |Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). E -> K (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).|E -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> A (in a sporadic cancer; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|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.E285K(95)|p.E285*(16)|p.E285V(13)|p.0?(7)|p.E285Q(4)|p.E285E(3)|p.E285G(3)|p.E285A(2)|p.?(2)|p.R283fs*16(2)|p.E285_N288delEEEN(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.G279fs*59(1)|p.E285fs*13(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.R283fs*56(1)|p.V272_K292del21(1)|p.R283fs*59(1)|p.C275fs*20(1)|p.E285_L289delEEENL(1)|p.E285fs*60(1)|p.E285fs*20(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) TTCTCTTCCTCTGTGCGCCGG 0.562 111 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-Fraumeni_syndrome|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) 14 23 0 0 0 0 MYH10 4628 broad.mit.edu 37 17 8422110 8422110 + Splice_Site SNP C C G TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr17:8422110C>G uc002gll.2 - 19 2347 c.2251_splice c.e19-1 p.I751_splice MYH10_uc002glm.2_Splice_Site_p.I782_splice|MYH10_uc010cnx.2_Splice_Site_p.I760_splice NM_005964 NP_005955 P35580 MYH10_HUMAN myosin, heavy polypeptide 10, non-muscle actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity ovary(2) 2 AAGCCCGGATCTAAGAGAGAA 0.353 NA 3 46 0 0 0 0 MYH2 4620 broad.mit.edu 37 17 10442663 10442663 + Silent SNP G G A rs151000841 by1000genomes TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr17:10442663G>A uc010coi.2 - 14 1403 c.1275C>T c.(1273-1275)AAC>AAT p.N425N uc002gml.1_Intron|MYH2_uc002gmp.3_Silent_p.N425N|MYH2_uc010coj.2_Silent_p.N425N NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 425 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 CACCTACTGCGTTGGACACCT 0.468 NA 18 118 0 0 0 0 ATPAF2 91647 broad.mit.edu 37 17 17942267 17942267 + Missense_Mutation SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr17:17942267C>T uc002gse.1 - 1 214 c.61G>A c.(61-63)GGT>AGT p.G21S C17orf39_uc002gsg.1_5'Flank|ATPAF2_uc002gsd.1_RNA|ATPAF2_uc002gsf.1_RNA|ATPAF2_uc010vxf.1_Missense_Mutation_p.G21S NM_145691 NP_663729 Q8N5M1 ATPF2_HUMAN ATP synthase mitochondrial F1 complex assembly 21 proton-transporting ATP synthase complex assembly mitochondrion|nuclear speck protein binding 0 all_neural(463;0.228) CTGGGGCCACCCGCCGGCCGA 0.667 NA 12 7 0 0 0 0 MYO15A 51168 broad.mit.edu 37 17 18039062 18039062 + Missense_Mutation SNP G G A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr17:18039062G>A uc010vxh.1 + 12 4858 c.4520G>A c.(4519-4521)CGA>CAA p.R1507Q NM_016239 NP_057323 Q9UKN7 MYO15_HUMAN myosin XV 1507 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1) 9 all_neural(463;0.228) GTGAGTGCCCGAGAGATCCAG 0.522 NA 7 24 0 0 0 0 TTC25 83538 broad.mit.edu 37 17 40087031 40087031 + Missense_Mutation SNP G G A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr17:40087031G>A uc002hyj.3 + 1 144 c.55G>A c.(55-57)GAA>AAA p.E19K TTC25_uc010cxt.2_RNA|TTC25_uc010cxs.1_Missense_Mutation_p.E19K NM_031421 NP_113609 Q96NG3 TTC25_HUMAN tetratricopeptide repeat domain 25 19 TPR 1. cytoplasm protein binding ovary(1) 1 all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236) TTATATGGCCGAAGGCGAGCG 0.542 NA 5 8 0 0 0 0 BRCA1 672 broad.mit.edu 37 17 41246860 41246860 + Missense_Mutation SNP C C G TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr17:41246860C>G uc002icq.2 - 10 920 c.688G>C c.(688-690)GAG>CAG p.E230Q BRCA1_uc010whp.1_Missense_Mutation_p.E183Q|BRCA1_uc010whl.1_Missense_Mutation_p.E230Q|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Missense_Mutation_p.E159Q|BRCA1_uc002icu.2_Missense_Mutation_p.E230Q|BRCA1_uc010cyx.2_Missense_Mutation_p.E183Q|BRCA1_uc002ict.2_Missense_Mutation_p.E230Q|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Missense_Mutation_p.E62Q|BRCA1_uc002idc.1_Missense_Mutation_p.E229Q|BRCA1_uc010whr.1_Missense_Mutation_p.E183Q|BRCA1_uc002idd.2_Missense_Mutation_p.E230Q|BRCA1_uc002ide.1_Missense_Mutation_p.E61Q|BRCA1_uc010cyy.1_Missense_Mutation_p.E230Q|BRCA1_uc010whs.1_Missense_Mutation_p.E230Q|BRCA1_uc010cyz.2_Missense_Mutation_p.E183Q|BRCA1_uc010cza.2_Missense_Mutation_p.E204Q|BRCA1_uc010wht.1_5'UTR NM_007294 NP_009225 P38398 BRCA1_HUMAN breast cancer 1, early onset isoform 1 230 androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1) 52 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.126) ACATCCGTCTCAGAAAATTCA 0.368 NA D|Mis|N|F|S ovarian breast|ovarian Homologous_recombination Hereditary_Breast-Ovarian_Cancer_BRCA1_type TCGA Ovarian(2;0.000030) 9 15 0 0 0 0 SP6 80320 broad.mit.edu 37 17 45924944 45924944 + Silent SNP G G A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr17:45924944G>A uc002img.1 - 2 1184 c.852C>T c.(850-852)TTC>TTT p.F284F SP6_uc002imh.1_Silent_p.F284F NM_199262 NP_954871 Q3SY56 SP6_HUMAN Sp6 transcription factor 284 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 AGTTGCACACGAAGGGACGGT 0.652 NA 14 35 0 0 0 0 HOXB5 3215 broad.mit.edu 37 17 46670537 46670537 + Missense_Mutation SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr17:46670537C>T uc002inr.2 - 1 567 c.508G>A c.(508-510)GAG>AAG p.E170K HOXB3_uc010wlm.1_5'Flank|HOXB3_uc010dbf.2_5'Flank|HOXB3_uc010dbg.2_5'Flank NM_002147 NP_002138 P09067 HXB5_HUMAN homeobox B5 170 nucleus sequence-specific DNA binding 0 GTCTGCCCCTCGGGCGCGGCT 0.607 NA 16 45 0 0 0 0 EPN3 55040 broad.mit.edu 37 17 48615544 48615544 + Missense_Mutation SNP G G A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr17:48615544G>A uc002ira.3 + 3 1102 c.667G>A c.(667-669)GAG>AAG p.E223K EPN3_uc010wms.1_Missense_Mutation_p.E278K|EPN3_uc010wmt.1_RNA|EPN3_uc010wmu.1_Missense_Mutation_p.E223K NM_017957 NP_060427 Q9H201 EPN3_HUMAN epsin 3 223 UIM 1. clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm lipid binding ovary(1) 1 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;2.88e-09) CATGAGCCGTGAGGAGGCAGA 0.667 NA 7 24 0 0 0 0 HELZ 9931 broad.mit.edu 37 17 65105306 65105306 + Missense_Mutation SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr17:65105306C>T uc010wqk.1 - 29 4605 c.4418G>A c.(4417-4419)GGC>GAC p.G1473D HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.G1472D|HELZ_uc010der.2_Missense_Mutation_p.G16D NM_014877 NP_055692 helicase with zinc finger domain ovary(1)|pancreas(1) 2 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) AAGAATGGGGCCGGGTTGTGC 0.532 NA 5 69 0 0 0 0 BTBD17 388419 broad.mit.edu 37 17 72353305 72353305 + Missense_Mutation SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr17:72353305C>T uc002jkn.2 - 3 928 c.928G>A c.(928-930)GCC>ACC p.A310T NM_001080466 NP_001073935 A6NE02 BTBDH_HUMAN BTB (POZ) domain containing 17 precursor 310 extracellular region 0 GGCAGGAAGGCGCTGCCGTTG 0.716 NA 5 11 0 0 0 0 RAB37 326624 broad.mit.edu 37 17 72741479 72741479 + Missense_Mutation SNP G G A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr17:72741479G>A uc002jlk.2 + 9 657 c.601G>A c.(601-603)GAG>AAG p.E201K RAB37_uc002jlc.2_3'UTR|RAB37_uc010dfu.2_Missense_Mutation_p.E194K|RAB37_uc002jld.2_3'UTR|RAB37_uc010wrb.1_Missense_Mutation_p.E169K|RAB37_uc010wrc.1_Missense_Mutation_p.E206K|RAB37_uc010wrd.1_Missense_Mutation_p.E169K|RAB37_uc010wre.1_Missense_Mutation_p.E164K|RAB37_uc002jll.3_RNA NM_001006638 NP_001006639 Q96AX2 RAB37_HUMAN RAB37, member RAS oncogene family isoform 2 201 protein transport|small GTPase mediated signal transduction ER-Golgi intermediate compartment GTP binding ovary(1) 1 TCAGGCGGATGAGCCCAGCTT 0.507 NA OREG0024716 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 29 49 0 0 0 0 FOXJ1 2302 broad.mit.edu 37 17 74136166 74136166 + Missense_Mutation SNP A A C TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr17:74136166A>C uc002jqw.2 - 1 401 c.311T>G c.(310-312)CTG>CGG p.L104R FOXJ1_uc002jqx.2_Missense_Mutation_p.L104R|uc002jqy.1_5'Flank NM_001454 NP_001445 Q92949 FOXJ1_HUMAN forkhead box J1 104 actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of central B cell tolerance induction|spermatogenesis transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding pancreas(1) 1 LUSC - Lung squamous cell carcinoma(166;0.187) TGGGGCCTGCAGCCCCGGGGG 0.736 NA 4 24 0 0 0 0 C1QTNF1 114897 broad.mit.edu 37 17 77043984 77043984 + Missense_Mutation SNP C C G TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr17:77043984C>G uc002jwp.2 + 4 1000 c.660C>G c.(658-660)ATC>ATG p.I220M C1QTNF1_uc002jwq.2_Missense_Mutation_p.I138M|C1QTNF1_uc002jwr.3_Missense_Mutation_p.I230M|C1QTNF1_uc002jws.2_Missense_Mutation_p.I220M|C1QTNF1_uc002jwt.2_Missense_Mutation_p.I318M NM_030968 NP_112230 Q9BXJ1 C1QT1_HUMAN C1q and tumor necrosis factor related protein 1 220 C1q. collagen ovary(1) 1 BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201) AGGTGGTGATCTTGTTCGCGC 0.597 NA 29 54 0 0 0 0 COLEC12 81035 broad.mit.edu 37 18 346549 346549 + Missense_Mutation SNP C C T rs140999458 TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr18:346549C>T uc002kkm.2 - 5 1288 c.1073G>A c.(1072-1074)CGG>CAG p.R358Q NM_130386 NP_569057 Q5KU26 COL12_HUMAN collectin sub-family member 12 358 Extracellular (Potential). 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) GGTCAGCGTCCGCAGGTGGTG 0.473 NA 18 46 0 0 0 0 LAMA3 3909 broad.mit.edu 37 18 21293932 21293932 + Missense_Mutation SNP C C G TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr18:21293932C>G uc002kuq.2 + 2 429 c.343C>G c.(343-345)CCT>GCT p.P115A LAMA3_uc010dlv.1_Missense_Mutation_p.P115A|LAMA3_uc002kur.2_Missense_Mutation_p.P115A NM_198129 NP_937762 Q16787 LAMA3_HUMAN laminin alpha 3 subunit isoform 1 115 Laminin N-terminal. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|skin(2)|central_nervous_system(1) 11 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GAAAGCACATCCTGTCACCAA 0.438 NA 10 26 0 0 0 0 DCC 1630 broad.mit.edu 37 18 50278591 50278591 + Missense_Mutation SNP G G A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr18:50278591G>A uc002lfe.1 + 2 846 c.259G>A c.(259-261)GAA>AAA p.E87K DCC_uc010xdr.1_5'UTR NM_005215 NP_005206 P43146 DCC_HUMAN netrin receptor DCC precursor 87 Extracellular (Potential).|Ig-like C2-type 1. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 17 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) GGGAATGGATGAAAGGAAGCA 0.498 NA 25 58 0 0 0 0 WDR7 23335 broad.mit.edu 37 18 54483274 54483274 + Nonsense_Mutation SNP C C G TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr18:54483274C>G uc002lgk.1 + 20 3414 c.3203C>G c.(3202-3204)TCA>TGA p.S1068* WDR7_uc010dpk.1_RNA|WDR7_uc002lgl.1_Nonsense_Mutation_p.S1035* NM_015285 NP_056100 Q9Y4E6 WDR7_HUMAN rabconnectin-3 beta isoform 1 1068 ovary(2)|skin(1) 3 Lung(128;0.0238)|Colorectal(16;0.0296) GGAGTCACATCAGAAGCCGCG 0.418 NA 12 21 0 0 0 0 NFATC1 4772 broad.mit.edu 37 18 77193713 77193713 + Missense_Mutation SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr18:77193713C>T uc010xfg.1 + 3 1814 c.1361C>T c.(1360-1362)TCG>TTG p.S454L NFATC1_uc002lnc.1_Missense_Mutation_p.S454L|NFATC1_uc010xff.1_Missense_Mutation_p.S454L|NFATC1_uc002lnd.2_Missense_Mutation_p.S454L|NFATC1_uc002lne.2_5'UTR|NFATC1_uc010xfh.1_Missense_Mutation_p.S454L|NFATC1_uc010xfi.1_Missense_Mutation_p.S441L|NFATC1_uc010xfj.1_5'UTR|NFATC1_uc002lnf.2_Missense_Mutation_p.S441L|NFATC1_uc002lng.2_Missense_Mutation_p.S441L|NFATC1_uc010xfk.1_Missense_Mutation_p.S441L NM_006162 NP_006153 O95644 NFAC1_HUMAN nuclear factor of activated T-cells, cytosolic 454 RHD. intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding large_intestine(1)|ovary(1) 2 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257) GTGAAGGCGTCGGCCGGAGGA 0.622 NA 29 72 0 0 0 0 S1PR4 8698 broad.mit.edu 37 19 3179318 3179318 + Silent SNP G G A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr19:3179318G>A uc002lxg.2 + 1 553 c.528G>A c.(526-528)CTG>CTA p.L176L NM_003775 NP_003766 O95977 S1PR4_HUMAN sphingosine-1-phosphate receptor 4 precursor 176 Helical; Name=4; (By similarity). activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response integral to plasma membrane lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity lung(1)|skin(1) 2 CCGCGCTGCTGGGGATGCTGC 0.667 NA 12 134 0 0 0 0 C3 718 broad.mit.edu 37 19 6684804 6684804 + Silent SNP T T C TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr19:6684804T>C uc002mfm.2 - 31 4073 c.4011A>G c.(4009-4011)AAA>AAG p.K1337K C3_uc002mfl.2_Silent_p.K73K NM_000064 NP_000055 P01024 CO3_HUMAN complement component 3 precursor 1337 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding skin(3)|ovary(1)|pancreas(1) 5 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) TGCCTTGGCCTTTTCCTTCAG 0.537 NA 3 137 0 0 0 0 EMR1 2015 broad.mit.edu 37 19 6916361 6916361 + Missense_Mutation SNP G G C TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr19:6916361G>C uc002mfw.2 + 12 1440 c.1402G>C c.(1402-1404)GAG>CAG p.E468Q EMR1_uc010dvc.2_Missense_Mutation_p.E468Q|EMR1_uc010dvb.2_Missense_Mutation_p.E416Q|EMR1_uc010xji.1_Missense_Mutation_p.E327Q|EMR1_uc010xjj.1_Missense_Mutation_p.E291Q NM_001974 NP_001965 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone 468 Ser/Thr-rich.|Extracellular (Potential). cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(3)|lung(1)|skin(1) 5 all_hematologic(4;0.166) TTCCACAATTGAGGAATCTGA 0.348 NA 38 81 0 0 0 0 MCOLN1 57192 broad.mit.edu 37 19 7593497 7593497 + Missense_Mutation SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr19:7593497C>T uc002mgo.2 + 8 1017 c.892C>T c.(892-894)CGG>TGG p.R298W MCOLN1_uc002mgp.2_Missense_Mutation_p.R263W NM_020533 NP_065394 Q9GZU1 MCLN1_HUMAN mucolipin 1 298 Helical; (Potential). calcium ion transport|cellular iron ion homeostasis|transferrin transport integral to plasma membrane|late endosome membrane|lysosomal membrane cation channel activity|iron ion transmembrane transporter activity breast(1) 1 CAACAGCTTCCGGCTCCTGTT 0.632 NA 10 30 0 0 0 0 NOTCH3 4854 broad.mit.edu 37 19 15291045 15291045 + Silent SNP A A G TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr19:15291045A>G uc002nan.2 - 20 3241 c.3165T>C c.(3163-3165)TGT>TGC p.C1055C NOTCH3_uc002nao.1_Silent_p.C1003C NM_000435 NP_000426 Q9UM47 NOTC3_HUMAN Notch homolog 3 precursor 1055 Extracellular (Potential).|EGF-like 27. Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1) 21 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) CACCCGCCTGACACAGCTGCT 0.597 NA 3 44 0 0 0 0 DDA1 79016 broad.mit.edu 37 19 17430407 17430407 + Missense_Mutation SNP C C G TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr19:17430407C>G uc002ngd.2 + 5 378 c.251C>G c.(250-252)TCC>TGC p.S84C DDA1_uc002nge.2_Silent_p.L22L NM_024050 NP_076955 Q9BW61 DDA1_HUMAN DET1 and DDB1 associated 1 84 ovary(1) 1 GGCGAGAGCTCCGCACCTCCC 0.587 NA 3 9 0 0 0 0 SLC27A1 376497 broad.mit.edu 37 19 17615340 17615340 + Silent SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr19:17615340C>T uc002ngu.1 + 12 1910 c.1860C>T c.(1858-1860)TTC>TTT p.F620F SLC27A1_uc010xpp.1_Silent_p.F441F|SLC27A1_uc002ngv.1_Silent_p.F222F NM_198580 NP_940982 Q6PCB7 S27A1_HUMAN solute carrier family 27, member 1 620 Cytoplasmic (Potential). cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport endomembrane system|integral to membrane fatty acid transporter activity|nucleotide binding 0 GGCTCTTCTTCCTGGACCTGA 0.597 NA 24 65 0 0 0 0 PDE4C 5143 broad.mit.edu 37 19 18324232 18324232 + Missense_Mutation SNP C C G TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr19:18324232C>G uc010xqc.1 - 13 2034 c.1554G>C c.(1552-1554)AAG>AAC p.K518N PDE4C_uc002nik.3_Missense_Mutation_p.K518N|PDE4C_uc002nil.3_Missense_Mutation_p.K518N|PDE4C_uc002nif.3_Missense_Mutation_p.K287N|PDE4C_uc002nig.3_Missense_Mutation_p.K233N|PDE4C_uc002nih.3_Missense_Mutation_p.K288N|PDE4C_uc010ebk.2_Missense_Mutation_p.K412N|PDE4C_uc002nii.3_Missense_Mutation_p.K486N|PDE4C_uc010ebl.2_Missense_Mutation_p.K232N NM_001098819 NP_001092289 Q08493 PDE4C_HUMAN phosphodiesterase 4C isoform PDE4C-2 518 signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding ovary(2)|skin(2)|central_nervous_system(1) 5 Dyphylline(DB00651) TTGTCACCTTCTTGGTCTCCA 0.542 NA 15 19 0 0 0 0 LSR 51599 broad.mit.edu 37 19 35739867 35739867 + Missense_Mutation SNP C C G TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr19:35739867C>G uc002nyl.2 + 1 309 c.86C>G c.(85-87)CCG>CGG p.P29R LSR_uc002nym.2_Missense_Mutation_p.P29R|LSR_uc002nyn.2_Missense_Mutation_p.P29R|LSR_uc002nyo.2_Missense_Mutation_p.P29R|LSR_uc010xsr.1_Missense_Mutation_p.P29R|LSR_uc002nyp.2_Missense_Mutation_p.P29R NM_205834 NP_991403 Q86X29 LSR_HUMAN lipolysis stimulated lipoprotein receptor 29 Extracellular (Potential). embryo development|liver development chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle receptor activity 0 all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162) Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) TGGTGCGCGCCGCGCCCCCTA 0.662 NA 4 27 0 0 0 0 KIRREL2 84063 broad.mit.edu 37 19 36352524 36352524 + Missense_Mutation SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr19:36352524C>T uc002ocb.3 + 10 1483 c.1271C>T c.(1270-1272)TCT>TTT p.S424F KIRREL2_uc002obz.3_Missense_Mutation_p.S424F|KIRREL2_uc002oca.3_Missense_Mutation_p.S374F|KIRREL2_uc002occ.3_Missense_Mutation_p.S371F|KIRREL2_uc002ocd.3_Missense_Mutation_p.S421F NM_199180 NP_954649 Q6UWL6 KIRR2_HUMAN kin of IRRE-like 2 isoform c 424 Ig-like C2-type 5.|Extracellular (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) GTTTTCGCCTCTCCCGCCCCA 0.642 NA 38 104 0 0 0 0 ZFP14 57677 broad.mit.edu 37 19 36853091 36853091 + Nonsense_Mutation SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr19:36853091C>T uc002odx.1 - 2 152 c.59G>A c.(58-60)TGG>TAG p.W20* ZFP14_uc010xtd.1_Nonsense_Mutation_p.W20*|ZFP14_uc010eex.1_Nonsense_Mutation_p.W20* NM_020917 NP_065968 Q9HCL3 ZFP14_HUMAN zinc finger protein 14-like 20 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Esophageal squamous(110;0.162) CAGGAATTCCCATTCTTCCTG 0.378 NA 5 49 0 0 0 0 ZNF540 163255 broad.mit.edu 37 19 38103198 38103198 + Silent SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr19:38103198C>T uc002ogq.2 + 5 1349 c.1017C>T c.(1015-1017)TGC>TGT p.C339C ZNF540_uc002ogu.2_Silent_p.C339C|ZNF540_uc010efq.2_Silent_p.C307C NM_152606 NP_689819 Q8NDQ6 ZN540_HUMAN zinc finger protein 540 339 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1) 1 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TTAGTGTATGCGGACAACTTA 0.353 NA 5 58 0 0 0 0 RYR1 6261 broad.mit.edu 37 19 39017636 39017636 + Missense_Mutation SNP G G C TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr19:39017636G>C uc002oit.2 + 72 10760 c.10630G>C c.(10630-10632)GAC>CAC p.D3544H RYR1_uc002oiu.2_Missense_Mutation_p.D3539H|RYR1_uc002oiv.1_Missense_Mutation_p.D459H|RYR1_uc010xuf.1_Missense_Mutation_p.D464H NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 3544 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) TCCCCAGAAAGACACAGATGA 0.542 NA 10 43 0 0 0 0 CYP2A13 1553 broad.mit.edu 37 19 41596383 41596383 + Missense_Mutation SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr19:41596383C>T uc002opt.2 + 4 577 c.568C>T c.(568-570)CGC>TGC p.R190C NM_000766 NP_000757 Q16696 CP2AD_HUMAN cytochrome P450, family 2, subfamily A, 190 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding ovary(2)|skin(1) 3 Clomipramine(DB01242)|Nicotine(DB00184) CTTTGGGGACCGCTTTGACTA 0.567 NA 30 74 0 0 0 0 ATP1A3 478 broad.mit.edu 37 19 42485787 42485787 + Missense_Mutation SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr19:42485787C>T uc002osg.2 - 11 1458 c.1304G>A c.(1303-1305)AGG>AAG p.R435K ATP1A3_uc010xwf.1_Missense_Mutation_p.R446K|ATP1A3_uc010xwg.1_Missense_Mutation_p.R405K|ATP1A3_uc010xwh.1_Missense_Mutation_p.R448K|ATP1A3_uc002osh.2_Missense_Mutation_p.R435K NM_152296 NP_689509 P13637 AT1A3_HUMAN Na+/K+ -ATPase alpha 3 subunit 435 Cytoplasmic (Potential). ATP biosynthetic process endoplasmic reticulum|Golgi apparatus ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity ovary(1)|pancreas(1) 2 AGCCACATCCCTCTGCAAGGA 0.592 NA 5 32 0 0 0 0 CIC 23152 broad.mit.edu 37 19 42794752 42794752 + Missense_Mutation SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr19:42794752C>T uc002otf.1 + 10 1872 c.1832C>T c.(1831-1833)CCA>CTA p.P611L NM_015125 NP_055940 Q96RK0 CIC_HUMAN capicua homolog 611 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1) 11 Prostate(69;0.00682) GGCCTGGAGCCACCAGGCCCC 0.657 NA T DUX4 soft tissue sarcoma 8 103 0 0 0 0 ZNF155 7711 broad.mit.edu 37 19 44500612 44500612 + Missense_Mutation SNP G G C TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr19:44500612G>C uc002oxy.1 + 5 808 c.603G>C c.(601-603)GAG>GAC p.E201D ZNF155_uc002oxz.1_Missense_Mutation_p.E201D|ZNF155_uc010xwt.1_Missense_Mutation_p.E212D NM_003445 NP_003436 Q12901 ZN155_HUMAN zinc finger protein 155 201 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(1)|ovary(1) 2 Prostate(69;0.0352) ACGTGGGAGAGAAACTCTTTA 0.413 NA 35 135 0 0 0 0 CD3EAP 10849 broad.mit.edu 37 19 45910389 45910389 + Silent SNP G G A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr19:45910389G>A uc002pbq.1 + 2 548 c.60G>A c.(58-60)GCG>GCA p.A20A PPP1R13L_uc002pbn.2_5'Flank|PPP1R13L_uc002pbo.2_5'Flank|PPP1R13L_uc002pbp.2_5'Flank|CD3EAP_uc002pbr.1_Silent_p.A22A NM_012099 NP_036231 O15446 RPA34_HUMAN CD3E antigen, epsilon polypeptide associated 20 rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway chromosome|RNA polymerase I transcription factor complex DNA-directed RNA polymerase activity large_intestine(2)|ovary(2) 4 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0251) ACTTTACCGCGAAGCCCCCAG 0.612 NA 30 76 0 0 0 0 PRRG2 5639 broad.mit.edu 37 19 50087180 50087180 + Missense_Mutation SNP G G T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr19:50087180G>T uc002pon.3 + 4 437 c.272G>T c.(271-273)TGG>TTG p.W91L PRRG2_uc010yaz.1_Missense_Mutation_p.W68L NM_000951 NP_000942 O14669 TMG2_HUMAN proline rich Gla (G-carboxyglutamic acid) 2 91 Gla.|Extracellular (Potential). extracellular region|integral to plasma membrane calcium ion binding skin(1) 1 all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.196)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0121) GAGCGCTTTTGGGAGAGCTAC 0.527 NA 6 82 0.00198382 0.00263853 1 0 ZNF836 162962 broad.mit.edu 37 19 52659522 52659522 + Missense_Mutation SNP A A G TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr19:52659522A>G uc010ydi.1 - 5 1788 c.1414T>C c.(1414-1416)TGC>CGC p.C472R ZNF836_uc010ydj.1_Missense_Mutation_p.C472R NM_001102657 NP_001096127 Q6ZNA1 ZN836_HUMAN zinc finger protein 836 472 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CATTCATTGCATTTGTAAGGT 0.418 NA 11 131 0 0 0 0 ZNF415 55786 broad.mit.edu 37 19 53612343 53612343 + Nonsense_Mutation SNP G G A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr19:53612343G>A uc002qax.2 - 7 1448 c.1099C>T c.(1099-1101)CAG>TAG p.Q367* ZNF415_uc002qat.2_Nonsense_Mutation_p.Q331*|ZNF415_uc002qaw.2_Nonsense_Mutation_p.Q319*|ZNF415_uc010yds.1_Nonsense_Mutation_p.Q319*|ZNF415_uc010ydt.1_Nonsense_Mutation_p.Q319*|ZNF415_uc002qau.2_Nonsense_Mutation_p.Q306*|ZNF415_uc002qav.2_Nonsense_Mutation_p.Q331*|ZNF415_uc002qba.2_Nonsense_Mutation_p.Q89*|ZNF415_uc002qay.2_Nonsense_Mutation_p.Q306*|ZNF415_uc002qaz.2_Nonsense_Mutation_p.Q367* NR_028343 Q09FC8 ZN415_HUMAN RecName: Full=Zinc finger protein 415; 367 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleolus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(134;0.0191) TGAGTTTTCTGATGTAGTGCA 0.418 NA 21 44 0 0 0 0 ZNF582 147948 broad.mit.edu 37 19 56896256 56896256 + Missense_Mutation SNP C C G TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr19:56896256C>G uc002qmz.1 - 5 689 c.530G>C c.(529-531)AGA>ACA p.R177T ZNF582_uc002qmy.2_Missense_Mutation_p.R208T NM_144690 NP_653291 Q96NG8 ZN582_HUMAN zinc finger protein 582 177 C2H2-type 1; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|large_intestine(1) 4 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0547) GAAGTCTTTTCTACATTTATT 0.328 NA 27 47 0 0 0 0 ZNF274 10782 broad.mit.edu 37 19 58721350 58721350 + Missense_Mutation SNP G G A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr19:58721350G>A uc002qrq.1 + 8 1222 c.763G>A c.(763-765)GAG>AAG p.E255K ZNF274_uc010yhu.1_RNA|ZNF274_uc010yhv.1_RNA|ZNF274_uc002qrr.1_Missense_Mutation_p.E223K|ZNF274_uc002qrs.1_Missense_Mutation_p.E150K|ZNF274_uc010eum.1_Missense_Mutation_p.E14K NM_133502 NP_598009 Q96GC6 ZN274_HUMAN zinc finger protein 274 isoform c 255 viral reproduction centrosome|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(1) 1 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215) ACAACCTGCCGAGGGCACCAC 0.637 NA 10 27 0 0 0 0 ZNF584 201514 broad.mit.edu 37 19 58928446 58928446 + Silent SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr19:58928446C>T uc002qsp.2 + 4 1013 c.561C>T c.(559-561)TTC>TTT p.F187F ZNF584_uc010yia.1_RNA|ZNF584_uc002qsr.2_Silent_p.F142F|ZNF584_uc010yib.1_3'UTR NM_173548 NP_775819 Q8IVC4 ZN584_HUMAN zinc finger protein 584 187 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0271) AGAGACCCTTCAGATGCCCAA 0.468 NA 10 31 0 0 0 0 ZNF324B 388569 broad.mit.edu 37 19 58967529 58967529 + Silent SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr19:58967529C>T uc002qsv.1 + 4 1325 c.1218C>T c.(1216-1218)TTC>TTT p.F406F ZNF324B_uc002qsu.1_Silent_p.F396F|ZNF324B_uc010euq.1_Silent_p.F406F NM_207395 NP_997278 Q6AW86 Z324B_HUMAN zinc finger protein 324B 406 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179) GTGCTGCCTTCAGCCAGGGCT 0.662 NA 5 58 0 0 0 0 KIF3C 3797 broad.mit.edu 37 2 26204430 26204430 + Silent SNP G G C TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr2:26204430G>C uc002rgu.2 - 1 1014 c.357C>G c.(355-357)GTC>GTG p.V119V KIF3C_uc010eyj.1_RNA|KIF3C_uc010ykr.1_Silent_p.V119V NM_002254 NP_002245 O14782 KIF3C_HUMAN kinesin family member 3C 119 Kinesin-motor. blood coagulation|microtubule-based movement cytosol|kinesin complex|microtubule ATP binding|microtubule motor activity ovary(3)|skin(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CATTCGGGATGACCCCGCGCA 0.587 NA 23 65 0 0 0 0 C2orf16 84226 broad.mit.edu 37 2 27804899 27804899 + Missense_Mutation SNP G G C TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr2:27804899G>C uc002rkz.3 + 1 5511 c.5460G>C c.(5458-5460)AGG>AGC p.R1820S ZNF512_uc010ylv.1_5'Flank|ZNF512_uc010ylw.1_5'Flank|ZNF512_uc002rlb.2_5'Flank|ZNF512_uc010ylx.1_5'Flank|ZNF512_uc002rlc.2_5'Flank|ZNF512_uc002rla.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.1_5'Flank NM_032266 NP_115642 Q68DN1 CB016_HUMAN hypothetical protein LOC84226 1820 27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich. large_intestine(1) 1 Acute lymphoblastic leukemia(172;0.155) TCTTGGAGAGGAGCCATCGCA 0.542 NA 38 93 0 0 0 0 BIRC6 57448 broad.mit.edu 37 2 32667175 32667175 + Silent SNP G G A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr2:32667175G>A uc010ezu.2 + 18 4121 c.3987G>A c.(3985-3987)GAG>GAA p.E1329E NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 1329 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) AATTTCATGAGAAGCTTGTTA 0.378 NA 16 59 0 0 0 0 SFRS7 6432 broad.mit.edu 37 2 38977291 38977291 + Missense_Mutation SNP C C G TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr2:38977291C>G uc002rqz.2 - 2 312 c.74G>C c.(73-75)GGA>GCA p.G25A SFRS7_uc002rra.2_RNA|SFRS7_uc010ynp.1_Missense_Mutation_p.G25A|GEMIN6_uc002rrb.2_5'Flank NM_001031684 NP_001026854 Q16629 SRSF7_HUMAN splicing factor, arginine/serine-rich 7 25 RRM. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nucleoplasm nucleotide binding|protein binding|RNA binding|zinc ion binding 0 all_hematologic(82;0.248) TTCTAACTCTCCTTTGCCAGC 0.423 NA 6 72 0 0 0 0 MCFD2 90411 broad.mit.edu 37 2 47136232 47136232 + Missense_Mutation SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr2:47136232C>T uc002rvk.2 - 2 173 c.79G>A c.(79-81)GAG>AAG p.E27K MCFD2_uc002rvl.2_Intron|MCFD2_uc010fba.2_Missense_Mutation_p.E25K|MCFD2_uc010yof.1_Intron NM_139279 NP_644808 Q8NI22 MCFD2_HUMAN multiple coagulation factor deficiency 2 27 post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|vesicle-mediated transport endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment|Golgi apparatus calcium ion binding central_nervous_system(1) 1 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114) Antihemophilic Factor(DB00025) GCAGGCTCCTCAGCCCTGGCG 0.592 NA 13 40 0 0 0 0 SPTBN1 6711 broad.mit.edu 37 2 54856684 54856684 + Nonsense_Mutation SNP G G T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr2:54856684G>T uc002rxu.2 + 14 2662 c.2413G>T c.(2413-2415)GAA>TAA p.E805* SPTBN1_uc002rxv.1_Nonsense_Mutation_p.E805*|SPTBN1_uc002rxx.2_Nonsense_Mutation_p.E792* NM_003128 NP_003119 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 isoform 1 805 Spectrin 5. actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton ovary(3)|breast(2)|central_nervous_system(2)|skin(1) 8 Lung(47;0.24) CACGCTGCACGAACAAGCCAG 0.607 NA 18 55 1.68e-08 2.3e-08 1 0 C2orf63 130162 broad.mit.edu 37 2 55403114 55403114 + Missense_Mutation SNP C C G TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr2:55403114C>G uc002ryi.2 - 13 1919 c.1573G>C c.(1573-1575)GAA>CAA p.E525Q C2orf63_uc002ryh.2_Missense_Mutation_p.E76Q|C2orf63_uc002ryj.2_Missense_Mutation_p.E403Q NM_152385 NP_689598 Q8NHS4 CB063_HUMAN hypothetical protein LOC130162 isoform 1 525 binding ovary(2)|central_nervous_system(1) 3 LUSC - Lung squamous cell carcinoma(58;0.179)|Lung(47;0.189) ATAAGACTTTCTACTGCATCT 0.299 NA 9 27 0 0 0 0 PROKR1 10887 broad.mit.edu 37 2 68882429 68882429 + Silent SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr2:68882429C>T uc010yqj.1 + 2 903 c.903C>T c.(901-903)TAC>TAT p.Y301Y PROKR1_uc002ses.2_RNA NM_138964 NP_620414 Q8TCW9 PKR1_HUMAN G protein-coupled receptor 73 301 Helical; Name=6; (Potential). integral to membrane|plasma membrane neuropeptide Y receptor activity ovary(1) 1 CGCCCTTCTACGGCTTCACCA 0.587 NA 18 45 0 0 0 0 ZNF638 27332 broad.mit.edu 37 2 71576307 71576307 + Missense_Mutation SNP C C G TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr2:71576307C>G uc002shx.2 + 2 542 c.223C>G c.(223-225)CAA>GAA p.Q75E ZNF638_uc010fec.2_Missense_Mutation_p.Q181E|ZNF638_uc010yqw.1_Intron|ZNF638_uc002shw.2_Missense_Mutation_p.Q75E|ZNF638_uc002shy.2_Missense_Mutation_p.Q75E|ZNF638_uc002shz.2_Missense_Mutation_p.Q75E|ZNF638_uc002sia.2_Missense_Mutation_p.Q75E|ZNF638_uc002sib.1_Missense_Mutation_p.Q75E NM_014497 NP_055312 Q14966 ZN638_HUMAN zinc finger protein 638 75 RNA splicing cytoplasm|nuclear speck double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding pancreas(2)|ovary(1)|skin(1) 4 TCAGGTAACTCAACACAGAAC 0.463 NA 3 95 0 0 0 0 ALMS1 7840 broad.mit.edu 37 2 73676052 73676052 + Missense_Mutation SNP A A G TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr2:73676052A>G uc002sje.1 + 10 2512 c.2401A>G c.(2401-2403)AAG>GAG p.K801E ALMS1_uc002sjf.1_Missense_Mutation_p.K757E|ALMS1_uc002sjg.2_Missense_Mutation_p.K187E|ALMS1_uc002sjh.1_Missense_Mutation_p.K187E NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 799 6.|34 X 47 AA approximate tandem repeat. 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 AGCTGACCAGAAGACTGGCCT 0.488 NA 54 119 0 0 0 0 TEKT4 150483 broad.mit.edu 37 2 95539303 95539303 + Missense_Mutation SNP G G C TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr2:95539303G>C uc002stw.1 + 2 630 c.537G>C c.(535-537)AAG>AAC p.K179N uc002stv.1_Intron|TEKT4_uc010fhr.1_RNA NM_144705 NP_653306 Q8WW24 TEKT4_HUMAN tektin 4 179 Potential. cell projection organization|microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule ovary(1)|breast(1)|skin(1) 3 AGCTGCTGAAGAGAACCATCA 0.612 NA 9 36 0 0 0 0 CNNM3 26505 broad.mit.edu 37 2 97483071 97483071 + Missense_Mutation SNP G G C TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr2:97483071G>C uc002swy.2 + 1 1081 c.1057G>C c.(1057-1059)GAG>CAG p.E353Q CNNM3_uc002swz.2_Missense_Mutation_p.E353Q NM_017623 NP_060093 Q8NE01 CNNM3_HUMAN cyclin M3 isoform 1 353 CBS 1. ion transport integral to membrane|plasma membrane protein binding ovary(1) 1 CCCGGTGTACGAGGAGGAGCG 0.617 NA 21 43 0 0 0 0 ST6GAL2 84620 broad.mit.edu 37 2 107460077 107460077 + Missense_Mutation SNP T T G TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr2:107460077T>G uc002tdq.2 - 2 476 c.357A>C c.(355-357)AAA>AAC p.K119N ST6GAL2_uc002tdr.2_Missense_Mutation_p.K119N|ST6GAL2_uc002tds.3_Missense_Mutation_p.K119N NM_001142351 NP_001135823 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide 119 Lumenal (Potential). growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity pancreas(6)|ovary(4)|skin(1) 11 CACTTTGAGATTTTCTCCCCA 0.532 NA 13 130 0 0 0 0 IL1F8 27177 broad.mit.edu 37 2 113780314 113780314 + Silent SNP G G A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr2:113780314G>A uc002tiq.1 - 6 536 c.432C>T c.(430-432)CTC>CTT p.L144L NM_014438 NP_055253 Q9NZH7 IL36B_HUMAN interleukin 1 family, member 8 isoform 1 144 immune response extracellular space cytokine activity|interleukin-1 receptor binding ovary(1) 1 CCTTCTTCCTGAGATGGTGAT 0.433 NA 30 53 0 0 0 0 PSD4 23550 broad.mit.edu 37 2 113940969 113940969 + Silent SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr2:113940969C>T uc002tjc.2 + 2 1119 c.936C>T c.(934-936)ATC>ATT p.I312I PSD4_uc002tjd.2_5'UTR|PSD4_uc002tje.2_Silent_p.I311I|PSD4_uc002tjf.2_5'Flank NM_012455 NP_036587 Q8NDX1 PSD4_HUMAN pleckstrin and Sec7 domain containing 4 312 regulation of ARF protein signal transduction cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity ovary(2) 2 GCGCTGCTATCAGTGGGCATT 0.617 NA 9 30 0 0 0 0 TMEM37 140738 broad.mit.edu 37 2 120194890 120194890 + Silent SNP C C G TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr2:120194890C>G uc002tly.2 + 2 481 c.447C>G c.(445-447)CTC>CTG p.L149L NM_183240 NP_899063 Q8WXS4 CCGL_HUMAN transmembrane protein 37 149 Helical; (Potential). integral to membrane calcium channel activity|voltage-gated ion channel activity breast(1) 1 TGATCCTCCTCAGGAACCAAG 0.547 NA 80 214 0 0 0 0 NEB 4703 broad.mit.edu 37 2 152512709 152512709 + Missense_Mutation SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr2:152512709C>T uc010fnx.2 - 49 6644 c.6453G>A c.(6451-6453)ATG>ATA p.M2151I NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 2151 Nebulin 57. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) GCTCAATGTTCATTGCATCTG 0.468 NA 98 280 0 0 0 0 TANK 10010 broad.mit.edu 37 2 162060088 162060088 + Missense_Mutation SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr2:162060088C>T uc002ubr.1 + 3 348 c.190C>T c.(190-192)CTT>TTT p.L64F TANK_uc002ubq.1_Missense_Mutation_p.L64F|TANK_uc002ubs.2_Missense_Mutation_p.L64F NM_004180 NP_004171 Q92844 TANK_HUMAN TRAF interacting protein TANK isoform a 64 cytosol metal ion binding|protein binding ovary(1) 1 TCAGTTACTTCTTGTGAATTC 0.343 NA 15 29 0 0 0 0 TBR1 10716 broad.mit.edu 37 2 162273175 162273175 + Missense_Mutation SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr2:162273175C>T uc002ubw.1 + 1 556 c.254C>T c.(253-255)CCT>CTT p.P85L TBR1_uc010foy.2_5'Flank NM_006593 NP_006584 Q16650 TBR1_HUMAN T-box, brain, 1 85 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1) 2 AAACTCTCTCCTGTCTTGGAC 0.522 NA 11 142 0 0 0 0 KCNH7 90134 broad.mit.edu 37 2 163693250 163693250 + Missense_Mutation SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr2:163693250C>T uc002uch.1 - 2 316 c.104G>A c.(103-105)AGA>AAA p.R35K KCNH7_uc002uci.2_Missense_Mutation_p.R35K NM_033272 NP_150375 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H, 35 Cytoplasmic (Potential). regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity ovary(3)|skin(2) 5 Ibutilide(DB00308) GTTCTGCACTCTGGCATTTGC 0.403 NA 10 16 0 0 0 0 KBTBD10 10324 broad.mit.edu 37 2 170366343 170366343 + Missense_Mutation SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr2:170366343C>T uc002ueu.1 + 1 132 c.55C>T c.(55-57)CTT>TTT p.L19F KBTBD10_uc010zdh.1_Intron NM_006063 NP_006054 O60662 KBTBA_HUMAN kelch repeat and BTB (POZ) domain containing 10 19 striated muscle contraction centrosome|nucleolus|plasma membrane|pseudopodium|ruffle 0 ATCCACCCTTCTTCAGGATGG 0.468 NA 34 55 0 0 0 0 NFE2L2 4780 broad.mit.edu 37 2 178098810 178098810 + Missense_Mutation SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr2:178098810C>T uc002ulh.3 - 2 790 c.235G>A c.(235-237)GAG>AAG p.E79K NFE2L2_uc002ulg.3_Missense_Mutation_p.E63K|NFE2L2_uc010zfa.1_Missense_Mutation_p.E63K|NFE2L2_uc002uli.3_Missense_Mutation_p.E63K|NFE2L2_uc010fra.2_Missense_Mutation_p.E63K|NFE2L2_uc010frb.2_Missense_Mutation_p.E63K NM_006164 NP_006155 Q16236 NF2L2_HUMAN nuclear factor erythroid 2-like 2 isoform 1 79 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) TCACCTGTCTCTTCATCTAGT 0.443 NA Mis NSCLC|HNSCC HNSCC(56;0.16) 6 59 0 0 0 0 SATB2 23314 broad.mit.edu 37 2 200137185 200137185 + Nonsense_Mutation SNP G G A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr2:200137185G>A uc002uuy.1 - 11 2768 c.1951C>T c.(1951-1953)CAG>TAG p.Q651* SATB2_uc010fsq.1_Nonsense_Mutation_p.Q533*|SATB2_uc002uuz.1_Nonsense_Mutation_p.Q651*|SATB2_uc002uva.1_Nonsense_Mutation_p.Q651* NM_015265 NP_056080 Q9UPW6 SATB2_HUMAN SATB homeobox 2 651 Homeobox. cytoplasm|nuclear matrix sequence-specific DNA binding transcription factor activity ovary(1) 1 AGATCCAGCTGAGCCGAAAGA 0.542 NA 26 57 0 0 0 0 CASP8 841 broad.mit.edu 37 2 202151270 202151270 + Nonsense_Mutation SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr2:202151270C>T uc002uxr.1 + 10 1602 c.1393C>T c.(1393-1395)CAG>TAG p.Q465* CASP8_uc002uxp.1_Nonsense_Mutation_p.Q482*|CASP8_uc002uxq.1_Nonsense_Mutation_p.Q450*|CASP8_uc002uxt.1_Nonsense_Mutation_p.Q524*|CASP8_uc002uxu.1_RNA|CASP8_uc002uxw.1_Nonsense_Mutation_p.Q450*|CASP8_uc002uxy.1_Intron|CASP8_uc002uxx.1_Intron|CASP8_uc010ftf.2_Nonsense_Mutation_p.Q381* NM_033355 NP_203519 Q14790 CASP8_HUMAN caspase 8 isoform B precursor 465 activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding|protein binding upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1) 5 ACAGATGCCTCAGCCTACTTT 0.313 NA HNSCC(4;0.00038) 10 19 0 0 0 0 INO80D 54891 broad.mit.edu 37 2 206869474 206869474 + Missense_Mutation SNP G G C TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr2:206869474G>C uc002vaz.3 - 11 3107 c.2702C>G c.(2701-2703)TCT>TGT p.S901C NM_017759 NP_060229 Q53TQ3 IN80D_HUMAN INO80 complex subunit D Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(1) 1 GCTAAATGGAGAGGGGTCTCC 0.567 NA 20 39 0 0 0 0 SEPT2 4735 broad.mit.edu 37 2 242282467 242282467 + Missense_Mutation SNP G G A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr2:242282467G>A uc002wbc.2 + 9 1076 c.655G>A c.(655-657)GAT>AAT p.D219N SEPT2_uc002wbd.2_Missense_Mutation_p.D219N|SEPT2_uc002wbf.2_Missense_Mutation_p.D219N|SEPT2_uc002wbg.2_Missense_Mutation_p.D219N|SEPT2_uc002wbh.2_Missense_Mutation_p.D229N|SEPT2_uc010zop.1_Missense_Mutation_p.D254N NM_001008491 NP_001008491 Q15019 SEPT2_HUMAN septin 2 219 cell division|mitosis actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle GTP binding central_nervous_system(1) 1 all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|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;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889) TGCAGAATCAGATGAAGATGA 0.358 NA 45 107 0 0 0 0 RALGAPA2 57186 broad.mit.edu 37 20 20453517 20453517 + Silent SNP G G A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr20:20453517G>A uc002wrz.2 - 37 5594 c.5451C>T c.(5449-5451)AAC>AAT p.N1817N RALGAPA2_uc010gcx.2_Silent_p.N1521N|RALGAPA2_uc010zsg.1_Silent_p.N1265N|RALGAPA2_uc002wsa.1_Silent_p.N589N NM_020343 NP_065076 Q2PPJ7 RGPA2_HUMAN akt substrate AS250 1817 Rap-GAP. activation of Ral GTPase activity cytosol|nucleus protein heterodimerization activity|Ral GTPase activator activity ovary(1) 1 CCCTGCTGGCGTTGATGCACG 0.468 NA 15 36 0 0 0 0 CST1 1469 broad.mit.edu 37 20 23729656 23729656 + Missense_Mutation SNP C C G TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr20:23729656C>G uc002wtp.2 - 2 410 c.339G>C c.(337-339)CAG>CAC p.Q113H NM_001898 NP_001889 P01037 CYTN_HUMAN cystatin SN precursor 113 extracellular region cysteine-type endopeptidase inhibitor activity ovary(1) 1 Lung NSC(19;0.0676)|all_lung(19;0.148) AACGTACCTTCTGCAGTTCTG 0.532 NA 8 165 0 0 0 0 ACSS1 84532 broad.mit.edu 37 20 25011402 25011402 + Silent SNP G G A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr20:25011402G>A uc002wub.2 - 3 1502 c.624C>T c.(622-624)ATC>ATT p.I208I ACSS1_uc002wuc.2_Silent_p.I208I|ACSS1_uc010gdc.2_Silent_p.I208I|ACSS1_uc002wua.2_Silent_p.I125I NM_032501 NP_115890 Q9NUB1 ACS2L_HUMAN acyl-CoA synthetase short-chain family member 1 208 acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process mitochondrial matrix acetate-CoA ligase activity|AMP binding|ATP binding|protein binding ovary(1)|skin(1) 2 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) CACCATCATTGATCCTCCCAG 0.592 NA 24 43 0 0 0 0 TM9SF4 9777 broad.mit.edu 37 20 30729306 30729306 + Missense_Mutation SNP T T G TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr20:30729306T>G uc002wxj.2 + 4 471 c.236T>G c.(235-237)GTG>GGG p.V79G TM9SF4_uc010ztr.1_Intron|TM9SF4_uc010zts.1_Intron|TM9SF4_uc002wxk.2_Missense_Mutation_p.V62G|TM9SF4_uc010gdz.2_5'Flank NM_014742 NP_055557 Q92544 TM9S4_HUMAN transmembrane 9 superfamily protein member 4 79 integral to membrane central_nervous_system(1)|pancreas(1) 2 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) GCAGGAGAGGTGCTGAGAGGG 0.547 NA 9 53 0 0 0 0 C20orf152 140894 broad.mit.edu 37 20 34575417 34575417 + Missense_Mutation SNP G G C TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr20:34575417G>C uc002xes.1 + 7 973 c.817G>C c.(817-819)GAT>CAT p.D273H C20orf152_uc002xer.1_Missense_Mutation_p.D273H|C20orf152_uc010gfp.1_Intron Q96M20 CT152_HUMAN SubName: Full=C20orf152 protein; 273 0 Breast(12;0.00631) GATCTCAAAAGATTTTGGAGA 0.493 NA 10 27 0 0 0 0 RALGAPB 57148 broad.mit.edu 37 20 37174953 37174953 + Missense_Mutation SNP G G C TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr20:37174953G>C uc002xiw.2 + 19 3039 c.2782G>C c.(2782-2784)GAG>CAG p.E928Q RALGAPB_uc002xix.2_Missense_Mutation_p.E924Q|RALGAPB_uc002xiy.1_Missense_Mutation_p.E928Q|RALGAPB_uc002xiz.2_Missense_Mutation_p.E706Q|RALGAPB_uc002xja.1_Missense_Mutation_p.E655Q NM_020336 NP_065069 Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit 928 activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity pancreas(1)|skin(1) 2 TCTTGTGAATGAGACCACTTT 0.438 NA 26 74 0 0 0 0 ZNF335 63925 broad.mit.edu 37 20 44578159 44578159 + Missense_Mutation SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr20:44578159C>T uc002xqw.2 - 25 3841 c.3718G>A c.(3718-3720)GAA>AAA p.E1240K ZNF335_uc002xqv.2_Missense_Mutation_p.E352K|ZNF335_uc010zxk.1_Missense_Mutation_p.E1085K NM_022095 NP_071378 Q9H4Z2 ZN335_HUMAN zinc finger protein 335 1240 Gln-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(3)|ovary(1) 4 Myeloproliferative disorder(115;0.0122) ACAACATATTCCTGGGGGAGC 0.617 NA 10 26 0 0 0 0 ELMO2 63916 broad.mit.edu 37 20 45000282 45000282 + Missense_Mutation SNP C C G TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr20:45000282C>G uc002xrt.1 - 18 1839 c.1629G>C c.(1627-1629)CAG>CAC p.Q543H ELMO2_uc010zxq.1_Missense_Mutation_p.Q275H|ELMO2_uc002xrs.1_Missense_Mutation_p.Q290H|ELMO2_uc002xru.1_Missense_Mutation_p.Q543H|ELMO2_uc010zxr.1_Missense_Mutation_p.Q555H|ELMO2_uc010zxs.1_Missense_Mutation_p.Q360H|ELMO2_uc002xrv.1_Missense_Mutation_p.Q262H NM_133171 NP_573403 Q96JJ3 ELMO2_HUMAN engulfment and cell motility 2 543 apoptosis|cell chemotaxis|phagocytosis cytoskeleton|cytosol|membrane lyase activity|receptor tyrosine kinase binding|SH3 domain binding ovary(1) 1 Myeloproliferative disorder(115;0.0122) TCAGGCGCTGCTGCTTGATCA 0.612 NA 12 32 0 0 0 0 PPP1R3D 5509 broad.mit.edu 37 20 58514571 58514571 + Missense_Mutation SNP G G C TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr20:58514571G>C uc002ybb.2 - 1 782 c.416C>G c.(415-417)TCG>TGG p.S139W C20orf177_uc002yba.2_Intron|C20orf177_uc010zzx.1_5'Flank|C20orf177_uc002ybc.2_5'Flank NM_006242 NP_006233 O95685 PPR3D_HUMAN protein phosphatase 1, regulatory subunit 3D 139 glycogen metabolic process protein binding|protein serine/threonine phosphatase activity 0 all_lung(29;0.00391) BRCA - Breast invasive adenocarcinoma(7;5.12e-09) GCACAGGTCCGAGTTGATTGC 0.682 NA 13 29 0 0 0 0 DIDO1 11083 broad.mit.edu 37 20 61527745 61527745 + Splice_Site SNP C C G TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr20:61527745C>G uc002ydr.1 - 8 2319 c.2055_splice c.e8-1 p.R685_splice DIDO1_uc002yds.1_Splice_Site_p.R685_splice|DIDO1_uc002ydt.1_Splice_Site_p.R685_splice|DIDO1_uc002ydu.1_Splice_Site_p.R685_splice NM_033081 NP_149072 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 isoform c apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(3)|skin(3) 6 Breast(26;5.68e-08) GTCATTGACTCTGAACAGAAT 0.363 NA 11 33 0 0 0 0 DSCAM 1826 broad.mit.edu 37 21 41496216 41496216 + Missense_Mutation SNP G G A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr21:41496216G>A uc002yyq.1 - 20 4054 c.3602C>T c.(3601-3603)TCA>TTA p.S1201L DSCAM_uc002yyr.1_RNA NM_001389 NP_001380 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule isoform 1201 Fibronectin type-III 4.|Extracellular (Potential). cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding ovary(6)|skin(4)|upper_aerodigestive_tract(1) 11 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) CATGGAGGCTGAGGCCGCCGC 0.592 NA 36 89 0 0 0 0 KRTAP10-10 353333 broad.mit.edu 37 21 46057496 46057496 + Silent SNP G G A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr21:46057496G>A uc002zfq.2 + 1 224 c.162G>A c.(160-162)CAG>CAA p.Q54Q C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_181688 NP_859016 P60014 KR10A_HUMAN keratin associated protein 10-10 54 3.|15 X 5 AA repeats of C-C-X(3). keratin filament 0 CCTGCTGCCAGACGGCCTGTG 0.657 NA 32 70 0 0 0 0 TXNRD2 10587 broad.mit.edu 37 22 19864723 19864723 + Missense_Mutation SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr22:19864723C>T uc011ahc.1 - 17 1513 c.1480G>A c.(1480-1482)GTG>ATG p.V494M TXNRD2_uc002zql.1_Missense_Mutation_p.V248M|TXNRD2_uc002zqm.1_RNA|TXNRD2_uc002zqn.1_RNA|TXNRD2_uc002zqo.1_RNA|TXNRD2_uc002zqp.1_RNA|TXNRD2_uc002zqr.1_Missense_Mutation_p.V493M|TXNRD2_uc002zqj.1_RNA|TXNRD2_uc002zqq.1_Missense_Mutation_p.V144M NM_006440 NP_006431 Q9NNW7 TRXR2_HUMAN thioredoxin reductase 2 precursor 494 cell redox homeostasis|response to oxygen radical mitochondrion flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity ovary(2) 2 Colorectal(54;0.0993) TGGATACCCACGGTCCGCATC 0.657 NA 8 24 0 0 0 0 LRP5L 91355 broad.mit.edu 37 22 25755871 25755871 + Silent SNP G G C TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr22:25755871G>C uc003abs.2 - 1 2654 c.189C>G c.(187-189)CTC>CTG p.L63L LRP5L_uc011ajz.1_Silent_p.L63L|LRP5L_uc010guw.1_Silent_p.L63L NM_182492 NP_872298 A4QPB2 LRP5L_HUMAN low density lipoprotein receptor-related protein 63 LDL-receptor class B 2. 0 AGGTGCTGTTGAGGCACGTCA 0.597 NA 18 80 0 0 0 0 TRIOBP 11078 broad.mit.edu 37 22 38168710 38168710 + Missense_Mutation SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr22:38168710C>T uc003atr.2 + 23 7310 c.7039C>T c.(7039-7041)CGT>TGT p.R2347C TRIOBP_uc003atu.2_Missense_Mutation_p.R2175C|TRIOBP_uc003atw.2_Missense_Mutation_p.R634C|TRIOBP_uc003atx.1_3'UTR|TRIOBP_uc010gxh.2_Missense_Mutation_p.R235C NM_001039141 NP_001034230 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein isoform 6 2347 Potential. actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1) 1 Melanoma(58;0.0574) GGAGCACCTGCGTCTTGCCAT 0.627 NA 7 141 0 0 0 0 PARVG 64098 broad.mit.edu 37 22 44583758 44583758 + Nonsense_Mutation SNP C C T rs147016590 TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr22:44583758C>T uc011aqe.1 + 5 671 c.247C>T c.(247-249)CAG>TAG p.Q83* PARVG_uc010gzo.2_3'UTR|PARVG_uc010gzp.2_RNA|PARVG_uc003bep.2_Nonsense_Mutation_p.Q83*|PARVG_uc010gzr.1_RNA|PARVG_uc011aqf.1_Nonsense_Mutation_p.Q83*|PARVG_uc003beq.2_RNA|PARVG_uc003ber.2_RNA NM_001137605 NP_001131077 Q9HBI0 PARVG_HUMAN parvin, gamma 83 CH 1. cell-matrix adhesion cytoplasm|cytoskeleton|focal adhesion actin binding 0 Ovarian(80;0.024)|all_neural(38;0.0299) CCACCTATTCCGTAAGTGGCT 0.562 NA 13 34 0 0 0 0 SBF1 6305 broad.mit.edu 37 22 50906317 50906317 + Missense_Mutation SNP C C G TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr22:50906317C>G uc003blh.2 - 3 372 c.177G>C c.(175-177)GAG>GAC p.E59D SBF1_uc011arx.1_5'Flank|SBF1_uc003bli.2_Missense_Mutation_p.E59D NM_002972 NP_002963 O95248 MTMR5_HUMAN SET binding factor 1 59 UDENN. protein dephosphorylation integral to membrane|nucleus protein tyrosine/serine/threonine phosphatase activity 0 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247) GTGGATTCCTCTCGGGACACA 0.632 NA 20 34 0 0 0 0 CNTN4 152330 broad.mit.edu 37 3 2777987 2777987 + Silent SNP C C G TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr3:2777987C>G uc003bpc.2 + 4 365 c.144C>G c.(142-144)CTC>CTG p.L48L CNTN4_uc003bpb.1_5'UTR|CNTN4_uc003bpd.1_Silent_p.L48L NM_175607 NP_783200 Q8IWV2 CNTN4_HUMAN contactin 4 isoform a precursor 48 Ig-like C2-type 1. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1) 7 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) AAGTGAAGCTCAATTGTGAAG 0.348 NA 9 84 0 0 0 0 RPUSD3 285367 broad.mit.edu 37 3 9879867 9879867 + Missense_Mutation SNP G G A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr3:9879867G>A uc011atk.1 - 9 893 c.889C>T c.(889-891)CGC>TGC p.R297C ARPC4_uc003btc.1_Intron|RPUSD3_uc011atl.1_Missense_Mutation_p.R282C NM_173659 NP_775930 Q6P087 RUSD3_HUMAN RNA pseudouridylate synthase domain containing 3 297 pseudouridine synthesis pseudouridine synthase activity|RNA binding central_nervous_system(1) 1 Medulloblastoma(99;0.227) AGGTGGAGGCGTCTGAGGAGG 0.622 NA 7 40 0 0 0 0 MST1R 4486 broad.mit.edu 37 3 49932708 49932708 + Missense_Mutation SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr3:49932708C>T uc003cxy.3 - 14 3427 c.3163G>A c.(3163-3165)GAG>AAG p.E1055K MST1R_uc011bdc.1_5'UTR NM_002447 NP_002438 Q04912 RON_HUMAN macrophage stimulating 1 receptor precursor 1055 Cytoplasmic (Potential). cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|macrophage colony-stimulating factor receptor activity|protein binding ovary(5)|lung(1) 6 BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625) TGGATGGACTCTTTCCGCAGC 0.552 NA 59 84 0 0 0 0 CD96 10225 broad.mit.edu 37 3 111304196 111304196 + Missense_Mutation SNP G G A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr3:111304196G>A uc003dxw.2 + 6 996 c.826G>A c.(826-828)GAA>AAA p.E276K CD96_uc003dxv.2_Missense_Mutation_p.E260K|CD96_uc003dxx.2_Missense_Mutation_p.E260K|CD96_uc010hpy.1_Missense_Mutation_p.E260K NM_198196 NP_937839 P40200 TACT_HUMAN CD96 antigen isoform 1 precursor 276 Extracellular (Potential).|Ig-like C2-type. cell adhesion|immune response|regulation of immune response integral to plasma membrane skin(2)|central_nervous_system(1) 3 TGTGATTGTGGAAAATAACTC 0.413 NA Opitz_Trigonocephaly_syndrome 6 30 0 0 0 0 POLQ 10721 broad.mit.edu 37 3 121158907 121158907 + Missense_Mutation SNP G G C TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr3:121158907G>C uc003eee.3 - 27 7450 c.7321C>G c.(7321-7323)CAG>GAG p.Q2441E POLQ_uc003eed.2_Missense_Mutation_p.Q1613E NM_199420 NP_955452 O75417 DPOLQ_HUMAN DNA polymerase theta 2441 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1) 11 GBM - Glioblastoma multiforme(114;0.0915) AAAATGGTCTGAACAAATCCG 0.323 NA DNA_polymerases_(catalytic_subunits) 16 43 0 0 0 0 ALDH1L1 10840 broad.mit.edu 37 3 125872405 125872405 + Nonsense_Mutation SNP G G C TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr3:125872405G>C uc003eim.1 - 7 930 c.740C>G c.(739-741)TCA>TGA p.S247* ALDH1L1_uc010hse.1_RNA|ALDH1L1_uc011bki.1_Nonsense_Mutation_p.S146*|ALDH1L1_uc003eio.2_5'UTR|ALDH1L1_uc010hsf.1_Nonsense_Mutation_p.S273*|ALDH1L1_uc003eip.1_Nonsense_Mutation_p.S154*|ALDH1L1_uc011bkj.1_Nonsense_Mutation_p.S72* NM_012190 NP_036322 O75891 AL1L1_HUMAN aldehyde dehydrogenase 1 family, member L1 247 10-formyltetrahydrofolate catabolic process|biosynthetic process acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 GBM - Glioblastoma multiforme(114;0.0462) Tetrahydrofolic acid(DB00116) GTTCAGCGTTGAGTTGAAAAA 0.567 NA 18 33 0 0 0 0 TPRA1 131601 broad.mit.edu 37 3 127294643 127294643 + Silent SNP G G A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr3:127294643G>A uc003ejl.2 - 7 910 c.619C>T c.(619-621)CTG>TTG p.L207L TPRA1_uc003ejm.2_Intron|TPRA1_uc003ejo.2_Silent_p.L207L|TPRA1_uc010hsk.2_Intron|TPRA1_uc003ejn.2_Silent_p.L207L NM_016372 NP_057456 Q86W33 TPRA1_HUMAN G protein-coupled receptor 175 isoform 1 207 Helical; Name=5; (Potential). aging|lipid metabolic process integral to membrane G-protein coupled receptor activity 0 ATGACCACCAGAGAGTAGACC 0.642 NA 15 52 0 0 0 0 RPN1 6184 broad.mit.edu 37 3 128348837 128348837 + Missense_Mutation SNP G G C TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr3:128348837G>C uc003ekr.1 - 5 1069 c.993C>G c.(991-993)ATC>ATG p.I331M RPN1_uc011bkq.1_Missense_Mutation_p.I159M NM_002950 NP_002941 P04843 RPN1_HUMAN ribophorin I precursor 331 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|melanosome|oligosaccharyltransferase complex|rough microsome dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding ovary(2)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(114;0.189) TGTAGCCAACGATGTAATGGG 0.433 NA T EVI1 AML 11 30 0 0 0 0 NCK1 4690 broad.mit.edu 37 3 136667114 136667114 + Nonsense_Mutation SNP C C G TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr3:136667114C>G uc003erh.2 + 4 1060 c.953C>G c.(952-954)TCA>TGA p.S318* NCK1_uc011bme.1_Nonsense_Mutation_p.S254* NM_006153 NP_006144 P16333 NCK1_HUMAN NCK adaptor protein 1 318 SH2. axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway cytosol|endoplasmic reticulum|nucleus cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity pancreas(1) 1 AATGATTTCTCAGTATCACTA 0.299 NA 3 40 0 0 0 0 SLC25A36 55186 broad.mit.edu 37 3 140692589 140692589 + Missense_Mutation SNP G G A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr3:140692589G>A uc003etr.2 + 6 719 c.484G>A c.(484-486)GAA>AAA p.E162K SLC25A36_uc003ets.2_Missense_Mutation_p.E162K|SLC25A36_uc003etq.2_Missense_Mutation_p.E5K|SLC25A36_uc011bmz.1_Missense_Mutation_p.E136K NM_001104647 NP_001098117 Q96CQ1 S2536_HUMAN solute carrier family 25, member 36 isoform a 162 Solcar 2. response to estradiol stimulus|transmembrane transport integral to membrane|mitochondrial inner membrane binding 0 GGGTGCTTTTGAATGTGTTCG 0.353 NA 11 23 0 0 0 0 RNF13 11342 broad.mit.edu 37 3 149589832 149589832 + Nonsense_Mutation SNP C C G TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr3:149589832C>G uc003exn.3 + 5 996 c.212C>G c.(211-213)TCA>TGA p.S71* RNF13_uc003exp.3_Nonsense_Mutation_p.S71*|RNF13_uc010hvh.2_5'UTR NM_007282 NP_009213 O43567 RNF13_HUMAN ring finger protein 13 71 PA.|Lumenal (Potential). protein autoubiquitination endoplasmic reticulum membrane|Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane|nuclear inner membrane ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255) LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) TTGATTAACTCAAAACCAGAG 0.328 NA 6 33 0 0 0 0 MED12L 116931 broad.mit.edu 37 3 150840608 150840608 + Silent SNP G G A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr3:150840608G>A uc003eyp.2 + 3 281 c.243G>A c.(241-243)CTG>CTA p.L81L MED12L_uc011bnz.1_Silent_p.L81L|MED12L_uc003eym.1_Silent_p.L81L|MED12L_uc003eyn.2_Silent_p.L81L|MED12L_uc003eyo.2_Silent_p.L81L NM_053002 NP_443728 Q86YW9 MD12L_HUMAN mediator of RNA polymerase II transcription, 81 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1) 7 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) CTGAGAAACTGAAGCTTAACA 0.378 NA 5 14 0 0 0 0 MECOM 2122 broad.mit.edu 37 3 168833803 168833803 + Silent SNP G G A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr3:168833803G>A uc003ffi.3 - 7 1562 c.1293C>T c.(1291-1293)TTC>TTT p.F431F MECOM_uc010hwk.1_Silent_p.F454F|MECOM_uc003ffj.3_Silent_p.F496F|MECOM_uc011bpi.1_Silent_p.F432F|MECOM_uc003ffn.3_Silent_p.F431F|MECOM_uc003ffk.2_Silent_p.F431F|MECOM_uc003ffl.2_Silent_p.F591F|MECOM_uc011bpj.1_Silent_p.F619F|MECOM_uc011bpk.1_Silent_p.F421F|MECOM_uc010hwn.2_Silent_p.F619F NM_005241 NP_005232 Q03112 EVI1_HUMAN MDS1 and EVI1 complex locus isoform b 431 Nuclear localization signal (Potential). apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle nuclear speck DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1) 14 CTTTGTCTTTGAACATTTTAC 0.378 NA 20 45 0 0 0 0 TNIK 23043 broad.mit.edu 37 3 170819256 170819256 + Missense_Mutation SNP C C G TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr3:170819256C>G uc003fhh.2 - 22 2918 c.2573G>C c.(2572-2574)AGC>ACC p.S858T TNIK_uc003fhi.2_Missense_Mutation_p.S803T|TNIK_uc003fhj.2_Missense_Mutation_p.S829T|TNIK_uc003fhk.2_Missense_Mutation_p.S850T|TNIK_uc003fhl.2_Missense_Mutation_p.S774T|TNIK_uc003fhm.2_Missense_Mutation_p.S795T|TNIK_uc003fhn.2_Missense_Mutation_p.S821T|TNIK_uc003fho.2_Missense_Mutation_p.S766T|TNIK_uc003fhg.2_Missense_Mutation_p.S36T NM_015028 NP_055843 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase isoform 1 858 Mediates interaction with NEDD4. actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity ovary(4)|large_intestine(1) 5 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GGGTATGTCGCTGACAGCCAC 0.453 NA 109 245 0 0 0 0 FXR1 8087 broad.mit.edu 37 3 180685989 180685989 + Missense_Mutation SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr3:180685989C>T uc003fkq.2 + 14 1371 c.1349C>T c.(1348-1350)TCA>TTA p.S450L FXR1_uc003fkp.2_Missense_Mutation_p.S365L|FXR1_uc003fkr.2_Missense_Mutation_p.S450L|FXR1_uc011bqj.1_Missense_Mutation_p.S364L|FXR1_uc003fks.2_Missense_Mutation_p.S393L|FXR1_uc011bqk.1_Missense_Mutation_p.S401L|FXR1_uc011bql.1_Missense_Mutation_p.S437L NM_005087 NP_005078 P51114 FXR1_HUMAN fragile X mental retardation-related protein 1 450 RNA-binding RGG-box. apoptosis|cell differentiation|muscle organ development nucleolus|polysome breast(1) 1 all_cancers(143;6.07e-14)|Ovarian(172;0.0212) Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22) AGAAGTGTTTCAGGGGGTCGA 0.512 NA 18 38 0 0 0 0 EVC2 132884 broad.mit.edu 37 4 5586467 5586467 + Missense_Mutation SNP C C G TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr4:5586467C>G uc003gij.2 - 17 2994 c.2940G>C c.(2938-2940)GAG>GAC p.E980D EVC2_uc011bwb.1_Missense_Mutation_p.E420D|EVC2_uc003gik.2_Missense_Mutation_p.E900D NM_147127 NP_667338 Q86UK5 LBN_HUMAN limbin 980 integral to membrane large_intestine(3)|ovary(2) 5 CCGACAGAGTCTCGGTCACCC 0.602 NA 22 34 0 0 0 0 N4BP2 55728 broad.mit.edu 37 4 40122465 40122465 + Missense_Mutation SNP A A G TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr4:40122465A>G uc003guy.3 + 9 3072 c.2734A>G c.(2734-2736)ATT>GTT p.I912V N4BP2_uc010ifq.2_Missense_Mutation_p.I832V|N4BP2_uc010ifr.2_Missense_Mutation_p.I832V NM_018177 NP_060647 Q86UW6 N4BP2_HUMAN Nedd4 binding protein 2 912 cytoplasm ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding lung(3)|breast(2)|kidney(2)|ovary(1) 8 CAACCTAGAAATTGGAACAAA 0.413 NA 16 43 0 0 0 0 DCAF4L1 285429 broad.mit.edu 37 4 41984001 41984001 + Missense_Mutation SNP G G C TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr4:41984001G>C uc003gwk.2 + 1 289 c.192G>C c.(190-192)TTG>TTC p.L64F NM_001029955 NP_001025126 Q3SXM0 DC4L1_HUMAN WD repeat domain 21B 64 skin(1) 1 TTCGGAGCTTGGATCCCTCCT 0.532 NA 3 62 0 0 0 0 ATP8A1 10396 broad.mit.edu 37 4 42571206 42571206 + Missense_Mutation SNP C C G TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr4:42571206C>G uc003gwr.2 - 15 1544 c.1312G>C c.(1312-1314)GAG>CAG p.E438Q ATP8A1_uc003gws.2_Intron|ATP8A1_uc011byz.1_Intron NM_006095 NP_006086 Q9Y2Q0 AT8A1_HUMAN ATPase, aminophospholipid transporter (APLT), 438 Cytoplasmic (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) CCATAATCCTCAGGTTCAGGG 0.408 NA 14 41 0 0 0 0 DCK 1633 broad.mit.edu 37 4 71859630 71859630 + Missense_Mutation SNP C C G TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr4:71859630C>G uc003hfx.2 + 1 366 c.78C>G c.(76-78)ATC>ATG p.I26M DCK_uc011cbb.1_Translation_Start_Site NM_000788 NP_000779 P27707 DCK_HUMAN deoxycytidine kinase 26 purine base metabolic process|purine-containing compound salvage|pyrimidine base metabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process cytosol|nucleus ATP binding|deoxycytidine kinase activity|drug binding|phosphotransferase activity, alcohol group as acceptor|protein homodimerization activity ovary(1) 1 Lung(101;0.235) Cladribine(DB00242)|Clofarabine(DB00631)|Decitabine(DB01262)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Pemetrexed(DB00642)|Zalcitabine(DB00943) AAATCTCCATCGAAGGGAACA 0.602 NA 7 15 0 0 0 0 SLC4A4 8671 broad.mit.edu 37 4 72423435 72423435 + Missense_Mutation SNP G G T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr4:72423435G>T uc003hfy.2 + 22 2887 c.2770G>T c.(2770-2772)GAT>TAT p.D924Y SLC4A4_uc010iic.2_Missense_Mutation_p.D924Y|SLC4A4_uc010iib.2_Missense_Mutation_p.D840Y|SLC4A4_uc003hfz.2_Missense_Mutation_p.D924Y|SLC4A4_uc003hgc.3_Missense_Mutation_p.D880Y|SLC4A4_uc010iid.2_Missense_Mutation_p.D128Y NM_001098484 NP_001091954 Q9Y6R1 S4A4_HUMAN solute carrier family 4, sodium bicarbonate 924 Cytoplasmic (Potential). basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity ovary(3)|kidney(1)|skin(1) 5 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) CCAGTTCATGGATCGTCTGAA 0.443 NA 5 49 3.6e-05 4.83e-05 1 0 FRAS1 80144 broad.mit.edu 37 4 79387417 79387417 + Missense_Mutation SNP G G A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr4:79387417G>A uc003hlb.2 + 50 7525 c.7085G>A c.(7084-7086)CGA>CAA p.R2362Q NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 2361 CSPG 11.|Extracellular (Potential). cell communication integral to membrane|plasma membrane metal ion binding large_intestine(5) 5 ACCATCGAGCGAACCAGCAAT 0.557 NA 19 63 0 0 0 0 BMP2K 55589 broad.mit.edu 37 4 79780824 79780824 + Missense_Mutation SNP C C G TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr4:79780824C>G uc003hlk.2 + 8 1136 c.970C>G c.(970-972)CCA>GCA p.P324A BMP2K_uc010ijl.1_RNA|BMP2K_uc003hlj.2_Missense_Mutation_p.P324A NM_198892 NP_942595 Q9NSY1 BMP2K_HUMAN BMP-2 inducible kinase isoform a 324 nucleus ATP binding|protein serine/threonine kinase activity lung(1) 1 AAAGGATTGTCCAGTCTCCAA 0.303 NA 10 34 0 0 0 0 HERC5 51191 broad.mit.edu 37 4 89426907 89426907 + Missense_Mutation SNP G G A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr4:89426907G>A uc003hrt.2 + 23 3106 c.2953G>A c.(2953-2955)GAA>AAA p.E985K HERC5_uc011cdm.1_Missense_Mutation_p.E623K NM_016323 NP_057407 Q9UII4 HERC5_HUMAN hect domain and RLD 5 985 HECT. innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus cytosol|perinuclear region of cytoplasm ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity ovary(4)|lung(3)|skin(2) 9 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000209) AAGTTGGAATGAAAGAGACCC 0.338 NA 6 19 0 0 0 0 COL25A1 84570 broad.mit.edu 37 4 110222950 110222950 + Missense_Mutation SNP G G A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr4:110222950G>A uc003hze.1 - 2 757 c.226C>T c.(226-228)CAT>TAT p.H76Y COL25A1_uc003hzg.2_Missense_Mutation_p.H76Y|COL25A1_uc003hzh.1_Missense_Mutation_p.H76Y NM_198721 NP_942014 Q9BXS0 COPA1_HUMAN collagen, type XXV, alpha 1 isoform 1 76 Extracellular (Potential). collagen|extracellular space beta-amyloid binding|heparin binding ovary(2) 2 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000173) GGCAGCAGATGAATGGAAGGG 0.572 NA 44 96 0 0 0 0 GRIA2 2891 broad.mit.edu 37 4 158233953 158233953 + Missense_Mutation SNP G G C TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr4:158233953G>C uc003ipm.3 + 4 1051 c.592G>C c.(592-594)GAT>CAT p.D198H GRIA2_uc011cit.1_Missense_Mutation_p.D151H|GRIA2_uc003ipl.3_Missense_Mutation_p.D198H|GRIA2_uc003ipk.3_Missense_Mutation_p.D151H|GRIA2_uc010iqh.1_RNA NM_001083619 NP_001077088 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 isoform 2 198 Extracellular (Potential). synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity central_nervous_system(3)|ovary(1) 4 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) ACTTTTTCAAGATCTGGAGTT 0.388 NA 22 67 0 0 0 0 GRIA2 2891 broad.mit.edu 37 4 158284166 158284166 + Silent SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr4:158284166C>T uc003ipm.3 + 15 3081 c.2622C>T c.(2620-2622)AAC>AAT p.N874N GRIA2_uc011cit.1_Silent_p.N827N|GRIA2_uc003ipl.3_Silent_p.N874N|GRIA2_uc003ipk.3_Silent_p.N827N|GRIA2_uc011civ.1_RNA|GRIA2_uc011ciw.1_RNA|GRIA2_uc011cix.1_3'UTR|GRIA2_uc011ciy.1_3'UTR|GRIA2_uc011ciz.1_RNA NM_001083619 NP_001077088 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 isoform 2 874 Cytoplasmic (Potential). synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity central_nervous_system(3)|ovary(1) 4 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) AAGGTTACAACGTATATGGCA 0.408 NA 7 92 0 0 0 0 KLHL2 11275 broad.mit.edu 37 4 166184408 166184408 + Silent SNP A A G TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr4:166184408A>G uc003irb.2 + 5 700 c.441A>G c.(439-441)GAA>GAG p.E147E KLHL2_uc011cjm.1_Silent_p.E151E|KLHL2_uc003irc.2_Silent_p.E59E|KLHL2_uc010ira.2_5'UTR NM_007246 NP_009177 O95198 KLHL2_HUMAN kelch-like 2, Mayven isoform 1 147 intracellular protein transport actin cytoskeleton|cytoplasm actin binding|transporter activity 0 all_hematologic(180;0.221) GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927) CTTGTTGTGAATTTTTGGAAT 0.463 NA 32 61 0 0 0 0 CCDC110 256309 broad.mit.edu 37 4 186380966 186380966 + Missense_Mutation SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr4:186380966C>T uc003ixu.3 - 6 851 c.775G>A c.(775-777)GAA>AAA p.E259K CCDC110_uc003ixv.3_Missense_Mutation_p.E222K|CCDC110_uc011ckt.1_Missense_Mutation_p.E259K NM_152775 NP_689988 Q8TBZ0 CC110_HUMAN coiled-coil domain containing 110 isoform a 259 nucleus central_nervous_system(1) 1 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749) OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164) AGTGCCACTTCCCCATCATGT 0.363 NA 6 114 0 0 0 0 CCDC110 256309 broad.mit.edu 37 4 186380971 186380971 + Missense_Mutation SNP T T A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr4:186380971T>A uc003ixu.3 - 6 846 c.770A>T c.(769-771)GAT>GTT p.D257V CCDC110_uc003ixv.3_Missense_Mutation_p.D220V|CCDC110_uc011ckt.1_Missense_Mutation_p.D257V NM_152775 NP_689988 Q8TBZ0 CC110_HUMAN coiled-coil domain containing 110 isoform a 257 nucleus central_nervous_system(1) 1 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749) OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164) CACTTCCCCATCATGTGACTT 0.358 NA 6 110 0 0 0 0 FAT1 2195 broad.mit.edu 37 4 187525001 187525001 + Nonsense_Mutation SNP G G C TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr4:187525001G>C uc003izf.2 - 19 10867 c.10679C>G c.(10678-10680)TCA>TGA p.S3560* NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 3560 Extracellular (Potential).|Cadherin 33. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 GACGCCACCTGAGTATTCTTC 0.473 NA HNSCC(5;0.00058) 12 28 0 0 0 0 FAT1 2195 broad.mit.edu 37 4 187525110 187525110 + Nonsense_Mutation SNP G G A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr4:187525110G>A uc003izf.2 - 19 10758 c.10570C>T c.(10570-10572)CAG>TAG p.Q3524* NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 3524 Extracellular (Potential).|Cadherin 32. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 GATGACAACTGAGGCTTTCCA 0.378 NA HNSCC(5;0.00058) 10 25 0 0 0 0 CEP72 55722 broad.mit.edu 37 5 644450 644450 + Missense_Mutation SNP G G C TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr5:644450G>C uc003jbf.2 + 10 1648 c.1576G>C c.(1576-1578)GAG>CAG p.E526Q NM_018140 NP_060610 Q9P209 CEP72_HUMAN centrosomal protein 72 kDa 526 Potential. G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization centrosome|cytosol ovary(1) 1 Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863) ATCTTTGGAAGAGAACAGTAG 0.368 NA 4 107 0 0 0 0 SLC6A3 6531 broad.mit.edu 37 5 1409145 1409145 + Silent SNP G G A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr5:1409145G>A uc003jck.2 - 11 1615 c.1494C>T c.(1492-1494)TTC>TTT p.F498F NM_001044 NP_001035 Q01959 SC6A3_HUMAN solute carrier family 6 (neurotransmitter 498 Helical; Name=10; (Potential). cell death|neurotransmitter biosynthetic process axon|cytoplasm|integral to plasma membrane|neuronal cell body ovary(3)|breast(2)|pancreas(1) 6 OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262) Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721) ACTCACCATAGAACCAGGCCA 0.582 NA 8 8 0 0 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5242298 5242298 + Missense_Mutation SNP G G A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr5:5242298G>A uc003jdl.2 + 17 2794 c.2656G>A c.(2656-2658)GGA>AGA p.G886R ADAMTS16_uc003jdk.1_Missense_Mutation_p.G886R NM_139056 NP_620687 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 886 TSP type-1 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1) 8 CGTGTCCTGCGGAGGGGGTAG 0.612 NA 20 46 0 0 0 0 ADCY2 108 broad.mit.edu 37 5 7766894 7766894 + Missense_Mutation SNP G G A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr5:7766894G>A uc003jdz.1 + 17 2256 c.2189G>A c.(2188-2190)CGT>CAT p.R730H ADCY2_uc011cmo.1_Missense_Mutation_p.R550H NM_020546 NP_065433 Q08462 ADCY2_HUMAN adenylate cyclase 2 730 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 GCGATTCTGCGTGCGCAGAAT 0.428 NA 11 114 0 0 0 0 FASTKD3 79072 broad.mit.edu 37 5 7868022 7868022 + Missense_Mutation SNP G G C TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr5:7868022G>C uc003jeb.2 - 2 312 c.175C>G c.(175-177)CAT>GAT p.H59D FASTKD3_uc011cmp.1_Intron|FASTKD3_uc003jec.2_Intron|MTRR_uc010itn.1_5'Flank|MTRR_uc003jee.3_5'Flank|MTRR_uc003jed.2_5'Flank|MTRR_uc003jef.3_5'Flank|MTRR_uc003jeg.3_5'Flank|MTRR_uc010ito.2_5'Flank NM_024091 NP_076996 Q14CZ7 FAKD3_HUMAN FAST kinase domains 3 59 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity ovary(2)|breast(1)|pancreas(1) 4 CAATGGGCATGATGGAATTTG 0.438 NA 23 53 0 0 0 0 TRIO 7204 broad.mit.edu 37 5 14381332 14381332 + Missense_Mutation SNP G G C TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr5:14381332G>C uc003jff.2 + 21 3547 c.3541G>C c.(3541-3543)GAG>CAG p.E1181Q TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Missense_Mutation_p.E1132Q|TRIO_uc003jfh.1_Missense_Mutation_p.E830Q NM_007118 NP_009049 O75962 TRIO_HUMAN triple functional domain (PTPRF interacting) 1181 Spectrin 4. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1) 18 Lung NSC(4;0.000742) GCTCCTGAAAGAGCACGAGGA 0.473 NA 18 45 0 0 0 0 TRIO 7204 broad.mit.edu 37 5 14387879 14387879 + Silent SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr5:14387879C>T uc003jff.2 + 23 3810 c.3804C>T c.(3802-3804)ATC>ATT p.I1268I TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Silent_p.I1219I|TRIO_uc003jfh.1_Silent_p.I917I NM_007118 NP_009049 O75962 TRIO_HUMAN triple functional domain (PTPRF interacting) 1268 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1) 18 Lung NSC(4;0.000742) CAGCCAGTATCCCTGGCTCAG 0.443 NA 4 53 0 0 0 0 IL7R 3575 broad.mit.edu 37 5 35875625 35875625 + Missense_Mutation SNP T T A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr5:35875625T>A uc003jjs.2 + 7 901 c.812T>A c.(811-813)ATC>AAC p.I271N IL7R_uc011coo.1_Missense_Mutation_p.S240T|IL7R_uc011cop.1_RNA NM_002185 NP_002176 P16871 IL7RA_HUMAN interleukin 7 receptor precursor 271 Cytoplasmic (Potential). immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity ovary(3)|breast(1)|skin(1) 5 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) ATTAAGCCTATCGTATGGCCC 0.393 NA 13 27 0 0 0 0 IPO11 51194 broad.mit.edu 37 5 61747671 61747671 + Nonsense_Mutation SNP C C T rs138490998 TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr5:61747671C>T uc003jtc.2 + 5 617 c.427C>T c.(427-429)CGA>TGA p.R143* IPO11_uc011cqr.1_Nonsense_Mutation_p.R183*|IPO11_uc003jtb.1_Nonsense_Mutation_p.R143* NM_016338 NP_057422 Q9UI26 IPO11_HUMAN Ran binding protein 11 isoform 2 143 HEAT 1. cytoplasm|nucleus protein binding lung(2)|skin(2) 4 Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077) Lung(70;0.0613) GGATGATCTTCGACAGCACAG 0.403 NA 20 55 0 0 0 0 GPR98 84059 broad.mit.edu 37 5 90050870 90050870 + Missense_Mutation SNP G G C TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr5:90050870G>C uc003kju.2 + 55 11544 c.11448G>C c.(11446-11448)TTG>TTC p.L3816F GPR98_uc003kjt.2_Missense_Mutation_p.L1522F|GPR98_uc003kjv.2_Missense_Mutation_p.L1416F NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 3816 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) CCATTCACTTGAGAGCTCAAC 0.358 NA 29 69 0 0 0 0 ERAP2 64167 broad.mit.edu 37 5 96248384 96248384 + Nonsense_Mutation SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr5:96248384C>T uc003kmq.2 + 16 3108 c.2398C>T c.(2398-2400)CAG>TAG p.Q800* uc003kmo.1_Intron|ERAP2_uc003kmt.2_Nonsense_Mutation_p.Q800*|ERAP2_uc003kmr.2_RNA|ERAP2_uc003kms.2_Nonsense_Mutation_p.Q749*|ERAP2_uc003kmu.2_RNA NM_022350 NP_071745 Q6P179 ERAP2_HUMAN endoplasmic reticulum aminopeptidase 2 800 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) TGTGGGTGCTCAGACAACAGC 0.328 NA 16 42 0 0 0 0 SRFBP1 153443 broad.mit.edu 37 5 121309963 121309963 + Nonsense_Mutation SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr5:121309963C>T uc003kst.1 + 2 181 c.109C>T c.(109-111)CGA>TGA p.R37* NM_152546 NP_689759 Q8NEF9 SRFB1_HUMAN serum response factor binding protein 1 37 regulation of transcription, DNA-dependent|transcription, DNA-dependent perinuclear region of cytoplasm 0 all_cancers(142;0.0124)|Prostate(80;0.0322) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517) GAGTGTTGGCCGACTGAAGTC 0.313 NA 8 16 0 0 0 0 PCDHGA3 56112 broad.mit.edu 37 5 140724426 140724426 + Missense_Mutation SNP C C A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr5:140724426C>A uc003ljm.1 + 1 826 c.826C>A c.(826-828)CAA>AAA p.Q276K PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Missense_Mutation_p.Q36K|PCDHGA3_uc011dap.1_Missense_Mutation_p.Q276K NM_018916 NP_061739 Q9Y5H0 PCDG3_HUMAN protocadherin gamma subfamily A, 3 isoform 1 276 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATTCAATGCTCAAGTGTCTTA 0.448 NA 16 33 0.000422831 0.000564477 1 0 PCDHGA10 56106 broad.mit.edu 37 5 140794543 140794543 + Missense_Mutation SNP G G A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr5:140794543G>A uc003lkl.1 + 1 1801 c.1801G>A c.(1801-1803)GAC>AAC p.D601N PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc011day.1_Missense_Mutation_p.D601N|PCDHGB7_uc003lkm.2_5'Flank|PCDHGB7_uc003lkn.1_5'Flank NM_018913 NP_061736 Q9Y5H3 PCDGA_HUMAN protocadherin gamma subfamily A, 10 isoform 1 601 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTGGACAGAGACTCCGGCCA 0.716 NA 38 108 0 0 0 0 NR3C1 2908 broad.mit.edu 37 5 142780147 142780147 + Missense_Mutation SNP C C G TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr5:142780147C>G uc003lmz.2 - 2 750 c.258G>C c.(256-258)ATG>ATC p.M86I NR3C1_uc003lmy.2_Missense_Mutation_p.M86I|NR3C1_uc003lna.2_Missense_Mutation_p.M86I|NR3C1_uc003lnb.2_Missense_Mutation_p.M86I|NR3C1_uc011dbk.1_Intron|NR3C1_uc003lnc.2_Missense_Mutation_p.M86I|NR3C1_uc003lnd.2_Missense_Mutation_p.M86I|NR3C1_uc003lne.2_Missense_Mutation_p.M86I|NR3C1_uc003lnf.2_Missense_Mutation_p.M86I|NR3C1_uc003lng.2_Missense_Mutation_p.M86I|NR3C1_uc003lnh.2_Missense_Mutation_p.M86I|NR3C1_uc003lni.2_Missense_Mutation_p.M86I NM_000176 NP_000167 P04150 GCR_HUMAN glucocorticoid receptor isoform alpha 86 Modulating. chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter mitochondrial matrix|nucleoplasm glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding ovary(2) 2 Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361) KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176) Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635) TATACAGTCCCATTGAGAGTG 0.473 NA 4 169 0 0 0 0 SLC36A3 285641 broad.mit.edu 37 5 150660632 150660632 + Missense_Mutation SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr5:150660632C>T uc003ltw.2 - 9 1506 c.1087G>A c.(1087-1089)GAG>AAG p.E363K GM2A_uc011dcs.1_Intron|SLC36A3_uc003ltv.2_Missense_Mutation_p.E348K|SLC36A3_uc003ltx.2_Missense_Mutation_p.E404K NM_181774 NP_861439 Q495N2 S36A3_HUMAN solute carrier family 36, member 3 isoform 2 363 Cytoplasmic (Potential). integral to membrane ovary(2)|skin(1) 3 Medulloblastoma(196;0.109)|all_hematologic(541;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GCCCAGCTCTCTGACACTTGG 0.507 NA 23 43 0 0 0 0 CLINT1 9685 broad.mit.edu 37 5 157218825 157218825 + Silent SNP G G A rs150043675 by1000genomes TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr5:157218825G>A uc003lxj.1 - 10 1456 c.1266C>T c.(1264-1266)GAC>GAT p.D422D CLINT1_uc003lxg.1_5'Flank|CLINT1_uc003lxh.1_5'UTR|CLINT1_uc003lxi.1_Silent_p.D404D|CLINT1_uc011ddv.1_Silent_p.D422D NM_014666 NP_055481 Q14677 EPN4_HUMAN epsin 4 422 D->R: Strongly decreases clathrin binding. endocytosis|post-Golgi vesicle-mediated transport clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm clathrin binding|lipid binding ovary(2)|pancreas(1) 3 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GATCAAACAGGTCTGAAGAAT 0.502 NA 8 92 0 0 0 0 STK10 6793 broad.mit.edu 37 5 171534828 171534828 + Silent SNP C C G TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr5:171534828C>G uc003mbo.1 - 5 849 c.549G>C c.(547-549)CTG>CTC p.L183L NM_005990 NP_005981 O94804 STK10_HUMAN serine/threonine kinase 10 183 Protein kinase. ATP binding|protein serine/threonine kinase activity ovary(3)|lung(2)|testis(1)|breast(1)|pancreas(1) 8 Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094) Medulloblastoma(196;0.00868)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GTAGAGTCTTCAGATTCTTGG 0.478 NA OREG0017039 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 33 0 0 0 0 FGFR4 2264 broad.mit.edu 37 5 176523644 176523644 + Silent SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr5:176523644C>T uc003mfl.2 + 16 2222 c.2055C>T c.(2053-2055)CTC>CTT p.L685L FGFR4_uc003mfm.2_Silent_p.L685L|FGFR4_uc011dfu.1_Silent_p.L617L|FGFR4_uc003mfo.2_Silent_p.L645L NM_002011 NP_002002 P22455 FGFR4_HUMAN fibroblast growth factor receptor 4 isoform 1 685 Protein kinase.|Cytoplasmic (Potential). insulin receptor signaling pathway|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity lung(11)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|prostate(1) 16 all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Palifermin(DB00039) TCTTCACCCTCGGGGGCTCCC 0.667 NA TSP Lung(9;0.080) 13 33 0 0 0 0 DSP 1832 broad.mit.edu 37 6 7586033 7586033 + Silent SNP G G A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr6:7586033G>A uc003mxp.1 + 24 8817 c.8538G>A c.(8536-8538)CGG>CGA p.R2846R DSP_uc003mxq.1_Silent_p.R2247R NM_004415 NP_004406 P15924 DESP_HUMAN desmoplakin isoform I 2846 6 X 4 AA tandem repeats of G-S-R-[SR].|Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton central_nervous_system(6)|ovary(2)|skin(1) 9 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) GTGGGTCCCGGAGAGGAAGCT 0.373 NA 39 119 0 0 0 0 NHLRC1 378884 broad.mit.edu 37 6 18122513 18122513 + Missense_Mutation SNP T T A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr6:18122513T>A uc003ncl.1 - 1 339 c.325A>T c.(325-327)AGC>TGC p.S109C NM_198586 NP_940988 Q6VVB1 NHLC1_HUMAN NHL repeat containing 1 109 proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination endoplasmic reticulum|nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding 0 Ovarian(93;0.016)|Breast(50;0.0245) all_hematologic(90;0.165) all cancers(50;0.0451)|Epithelial(50;0.0493) CCGGGGGCGCTGGGGGCGGCG 0.731 NA 7 20 0 0 0 0 NHLRC1 378884 broad.mit.edu 37 6 18122525 18122525 + Missense_Mutation SNP G G A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr6:18122525G>A uc003ncl.1 - 1 327 c.313C>T c.(313-315)CGC>TGC p.R105C NM_198586 NP_940988 Q6VVB1 NHLC1_HUMAN NHL repeat containing 1 105 proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination endoplasmic reticulum|nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding 0 Ovarian(93;0.016)|Breast(50;0.0245) all_hematologic(90;0.165) all cancers(50;0.0451)|Epithelial(50;0.0493) GGGGCGGCGCGATGGGCGGCC 0.726 NA 5 15 0 0 0 0 HIST1H2BB 3018 broad.mit.edu 37 6 26043802 26043802 + Silent SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr6:26043802C>T uc003nfu.2 - 1 84 c.84G>A c.(82-84)AAG>AAA p.K28K HIST1H3C_uc003nfv.2_5'Flank NM_021062 NP_066406 P33778 H2B1B_HUMAN histone cluster 1, H2bb 28 nucleosome assembly nucleosome|nucleus DNA binding 0 GCTTACGCTTCTTACCATCCT 0.507 NA 45 128 0 0 0 0 HIST1H3I 8354 broad.mit.edu 37 6 27839926 27839926 + Silent SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr6:27839926C>T uc003njy.2 - 1 174 c.168G>A c.(166-168)CAG>CAA p.Q56Q NM_003533 NP_003524 P68431 H31_HUMAN histone cluster 1, H3i 56 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding ovary(1) 1 CGGTCGACTTCTGGTAGCGGC 0.657 NA 37 68 0 0 0 0 HLA-A 3105 broad.mit.edu 37 6 29910684 29910684 + Nonsense_Mutation SNP G G A rs41542016 TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr6:29910684G>A uc003nol.2 + 2 224 c.224G>A c.(223-225)TGG>TAG p.W75* HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_Intron|HLA-A_uc010jrq.2_5'UTR|HLA-A_uc003nok.2_5'UTR|HLA-A_uc003non.2_Nonsense_Mutation_p.W75*|HLA-A_uc003noo.2_Nonsense_Mutation_p.W75*|HLA-A_uc010jrr.2_Nonsense_Mutation_p.W75*|HLA-A_uc003nom.2_5'UTR|HLA-A_uc010klp.2_Nonsense_Mutation_p.W47*|HLA-A_uc011dmc.1_5'UTR|HLA-A_uc011dmd.1_5'Flank NM_002116 NP_002107 P30443 1A01_HUMAN major histocompatibility complex, class I, A 75 Extracellular (Potential).|Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity upper_aerodigestive_tract(1)|ovary(1) 2 CGGGCGCCGTGGATAGAGCAG 0.677 NA Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of|Osteosarcoma_Familial_Clustering_of|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of Multiple Myeloma(9;0.094) 3 17 0 0 0 0 MDC1 9656 broad.mit.edu 37 6 30671427 30671427 + Missense_Mutation SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr6:30671427C>T uc003nrg.3 - 10 5973 c.5533G>A c.(5533-5535)GAT>AAT p.D1845N MDC1_uc003nrf.3_Missense_Mutation_p.D476N|MDC1_uc011dmp.1_Missense_Mutation_p.D1452N NM_014641 NP_055456 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 1845 Required for nuclear localization (NLS2). cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|ovary(1)|kidney(1) 4 TCTGCAGTATCTTCTTCCTCT 0.483 NA Other_conserved_DNA_damage_response_genes 59 143 0 0 0 0 MUC21 394263 broad.mit.edu 37 6 30954680 30954680 + Missense_Mutation SNP C C G TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr6:30954680C>G uc003nsh.2 + 2 979 c.728C>G c.(727-729)TCT>TGT p.S243C MUC21_uc003nsi.1_RNA NM_001010909 NP_001010909 Q5SSG8 MUC21_HUMAN mucin 21 precursor 243 Ser-rich.|28 X 15 AA approximate tandem repeats.|Extracellular (Potential). integral to membrane|plasma membrane ovary(1)|skin(1) 2 GCCACCAACTCTGAGTCCAGC 0.642 NA 7 305 0 0 0 0 HLA-B 3106 broad.mit.edu 37 6 31323241 31323241 + Missense_Mutation SNP G G C TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr6:31323241G>C uc003nth.2 - 4 802 c.748C>G c.(748-750)CAG>GAG p.Q250E HLA-C_uc003ntb.2_RNA|HLA-C_uc003ntc.1_5'Flank|HLA-B_uc010jsm.1_RNA|HLA-B_uc011dnk.1_RNA|HLA-B_uc003ntf.2_Intron|HLA-B_uc003ntg.1_Missense_Mutation_p.Q129E|HLA-B_uc003nti.1_RNA|HLA-B_uc010jsn.1_RNA NM_005514 NP_005505 P01889 1B07_HUMAN major histocompatibility complex, class I, B 250 Alpha-3.|Ig-like C1-type.|Extracellular (Potential). antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity 0 TCAGTGTCCTGAGTTTGGTCC 0.587 NA Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of 29 65 0 0 0 0 HLA-B 3106 broad.mit.edu 37 6 31324637 31324637 + Missense_Mutation SNP G G C rs41546213 TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr6:31324637G>C uc003nth.2 - 2 225 c.171C>G c.(169-171)TTC>TTG p.F57L HLA-C_uc003ntb.2_5'Flank|HLA-C_uc003ntc.1_5'Flank|HLA-B_uc010jsm.1_5'Flank|HLA-B_uc011dnk.1_5'Flank|HLA-B_uc003ntf.2_Missense_Mutation_p.F57L|HLA-B_uc003ntg.1_5'Flank|HLA-B_uc003nti.1_5'Flank|HLA-B_uc010jsn.1_5'Flank|HLA-B_uc010jso.2_Missense_Mutation_p.F29L NM_005514 NP_005505 P01889 1B07_HUMAN major histocompatibility complex, class I, B 57 Alpha-1.|Extracellular (Potential). antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity 0 CGAACCTCACGAACTGGGTGT 0.657 NA Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of 11 18 0 0 0 0 PACSIN1 29993 broad.mit.edu 37 6 34498110 34498110 + Silent SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr6:34498110C>T uc003ojo.2 + 7 1085 c.879C>T c.(877-879)CCC>CCT p.P293P PACSIN1_uc003ojp.2_Silent_p.P293P NM_020804 NP_065855 Q9BY11 PACN1_HUMAN protein kinase C and casein kinase substrate in 293 endocytosis protein kinase activity 0 CCAGTGGCCCCGGCATGCCCA 0.617 NA 16 27 0 0 0 0 LRFN2 57497 broad.mit.edu 37 6 40359796 40359796 + Missense_Mutation SNP C C G TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr6:40359796C>G uc003oph.1 - 3 2721 c.2256G>C c.(2254-2256)TGG>TGC p.W752C NM_020737 NP_065788 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III 752 Cytoplasmic (Potential). cell junction|integral to membrane|postsynaptic membrane ovary(2)|skin(1) 3 Ovarian(28;0.0418)|Colorectal(47;0.196) TGCGCTTCGTCCAGATGTTCG 0.642 NA 11 24 0 0 0 0 GPR115 221393 broad.mit.edu 37 6 47680160 47680160 + Missense_Mutation SNP G G A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr6:47680160G>A uc003oza.1 + 5 626 c.368G>A c.(367-369)CGA>CAA p.R123Q GPR115_uc003oyz.1_Missense_Mutation_p.R180Q|GPR115_uc003ozb.1_Missense_Mutation_p.R121Q NM_153838 NP_722580 Q8IZF3 GP115_HUMAN G-protein coupled receptor 115 precursor 123 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1) 8 CTAGACTTTCGAGCTCCAGAG 0.418 NA 30 74 0 0 0 0 SMAP1 60682 broad.mit.edu 37 6 71442124 71442124 + Silent SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr6:71442124C>T uc003pfr.2 + 2 410 c.162C>T c.(160-162)ATC>ATT p.I54I SMAP1_uc011dxy.1_RNA|SMAP1_uc003pfs.2_Silent_p.I54I|SMAP1_uc010kao.2_Silent_p.I54I|SMAP1_uc010kap.2_Silent_p.I44I NM_001044305 NP_001037770 Q8IYB5 SMAP1_HUMAN stromal membrane-associated GTPase-activating 54 C4-type.|Arf-GAP. regulation of ARF GTPase activity plasma membrane ARF GTPase activator activity|zinc ion binding 0 TTATTTGCATCAGATGTGCTG 0.363 NA 12 54 0 0 0 0 IMPG1 3617 broad.mit.edu 37 6 76660391 76660391 + Missense_Mutation SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr6:76660391C>T uc003pik.1 - 13 1842 c.1712G>A c.(1711-1713)CGA>CAA p.R571Q NM_001563 NP_001554 Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 571 SEA 2. visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) TACCAGCTCTCGGCCCTTGGG 0.488 NA 8 56 0 0 0 0 WASF1 8936 broad.mit.edu 37 6 110423089 110423089 + Silent SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr6:110423089C>T uc003ptv.1 - 10 2061 c.1224G>A c.(1222-1224)GAG>GAA p.E408E WASF1_uc003ptw.1_Silent_p.E408E|WASF1_uc003ptx.1_Silent_p.E408E|WASF1_uc003pty.1_Silent_p.E408E NM_003931 NP_003922 Q92558 WASF1_HUMAN Wiskott-Aldrich syndrome protein family member 408 actin filament polymerization|cellular component movement actin cytoskeleton actin binding 0 all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488) OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687) CTGGTACAGTCTCACATACTG 0.577 NA 13 44 0 0 0 0 OLIG3 167826 broad.mit.edu 37 6 137815023 137815023 + Silent SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr6:137815023C>T uc003qhp.1 - 1 509 c.285G>A c.(283-285)CGG>CGA p.R95R NM_175747 NP_786923 Q7RTU3 OLIG3_HUMAN oligodendrocyte transcription factor 3 95 Basic motif. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding 0 Breast(32;0.165)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447) GGTCGTGCATCCGCTTGCGTT 0.607 NA 36 58 0 0 0 0 RAET1E 135250 broad.mit.edu 37 6 150210518 150210518 + Silent SNP G G A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr6:150210518G>A uc003qnl.1 - 3 648 c.588C>T c.(586-588)TTC>TTT p.F196F uc003qni.1_Intron|RAET1E_uc003qnj.2_Silent_p.F196F|RAET1E_uc003qnk.1_Silent_p.F160F|RAET1E_uc010kih.1_RNA NM_139165 NP_631904 Q8TD07 N2DL4_HUMAN retinoic acid early transcript 1E precursor 196 Extracellular (Potential).|MHC class I alpha-2 like. antigen processing and presentation|immune response|regulation of immune response integral to membrane|MHC class I protein complex protein binding 0 Ovarian(120;0.0907) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;2.58e-12) AGTGCCCTAAGAATTCCCTGA 0.512 NA 5 66 0 0 0 0 RAET1E 135250 broad.mit.edu 37 6 150210686 150210686 + Silent SNP G G A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr6:150210686G>A uc003qnl.1 - 3 480 c.420C>T c.(418-420)TTC>TTT p.F140F uc003qni.1_Intron|RAET1E_uc003qnj.2_Silent_p.F140F|RAET1E_uc003qnk.1_Silent_p.F104F|RAET1E_uc010kih.1_RNA NM_139165 NP_631904 Q8TD07 N2DL4_HUMAN retinoic acid early transcript 1E precursor 140 Extracellular (Potential).|MHC class I alpha-2 like. antigen processing and presentation|immune response|regulation of immune response integral to membrane|MHC class I protein complex protein binding 0 Ovarian(120;0.0907) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;2.58e-12) CATTGGTGGCGAACTGCCAGG 0.468 NA 5 75 0 0 0 0 PSMG3 84262 broad.mit.edu 37 7 1608785 1608785 + Missense_Mutation SNP G G C TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr7:1608785G>C uc003skx.2 - 1 845 c.191C>G c.(190-192)ACA>AGA p.T64R PSMG3_uc011jvx.1_Missense_Mutation_p.T64R|KIAA1908_uc003sla.2_5'Flank|KIAA1908_uc003sky.1_5'Flank|KIAA1908_uc003skz.1_5'Flank NM_032302 NP_115678 Q9BT73 PSMG3_HUMAN proteasome assembling chaperone 3 64 0 Ovarian(82;0.11) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.63e-15) AAGGACTTTTGTGGTGAGCAC 0.403 NA 29 69 0 0 0 0 THSD7A 221981 broad.mit.edu 37 7 11485796 11485796 + Missense_Mutation SNP T T C TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr7:11485796T>C uc003ssf.3 - 13 3208 c.2956A>G c.(2956-2958)AAA>GAA p.K986E NM_015204 NP_056019 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 986 TSP type-1 10.|Extracellular (Potential). integral to membrane ovary(3) 3 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) CCTTGTACTTTCATTCCCAGC 0.433 NA HNSCC(18;0.044) 3 187 0 0 0 0 ETV1 2115 broad.mit.edu 37 7 13975358 13975358 + Missense_Mutation SNP C C A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr7:13975358C>A uc011jxq.1 - 8 1268 c.529G>T c.(529-531)GAT>TAT p.D177Y ETV1_uc011jxn.1_Missense_Mutation_p.D137Y|ETV1_uc011jxo.1_Intron|ETV1_uc011jxp.1_Missense_Mutation_p.D119Y|ETV1_uc003ssw.3_Missense_Mutation_p.D177Y|ETV1_uc003ssx.2_RNA|ETV1_uc011jxr.1_Missense_Mutation_p.D159Y|ETV1_uc011jxs.1_Missense_Mutation_p.D159Y|ETV1_uc010ktv.2_Missense_Mutation_p.D46Y NM_004956 NP_004947 P50549 ETV1_HUMAN ets variant gene 1 isoform a 177 transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity TMPRSS2/ETV1(24)|EWSR1/ETV1(7) prostate(24)|soft_tissue(4)|bone(3)|lung(2)|central_nervous_system(1)|ovary(1) 35 TAGCTGCTATCTGGTATGGAC 0.478 NA T EWSR1|TMPRSS2|SLC45A3|C15orf21|HNRNPA2B1. ACSL3 Ewing sarcoma|prostate 12 168 6.72e-11 9.29e-11 1 0 HOXA11 3207 broad.mit.edu 37 7 27222479 27222479 + Missense_Mutation SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr7:27222479C>T uc003syx.2 - 2 950 c.878G>A c.(877-879)AGA>AAA p.R293K HOXA10_uc003syw.3_5'Flank|HOXA11_uc003syy.2_RNA|HOXA11AS_uc003syz.1_5'Flank NM_005523 NP_005514 P31270 HXA11_HUMAN homeobox A11 293 Homeobox. branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation protein-DNA complex|transcription factor complex sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity lung(1)|breast(1) 2 TTCCTTCATTCTCCTGTTCTG 0.453 NA T NUP98 CML 27 64 0 0 0 0 ABCA13 154664 broad.mit.edu 37 7 48318519 48318519 + Missense_Mutation SNP A A T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr7:48318519A>T uc003toq.2 + 18 7753 c.7728A>T c.(7726-7728)TTA>TTT p.L2576F ABCA13_uc010kys.1_5'Flank NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 2576 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 TAGCTACTTTAAAAAAAATAG 0.313 NA 42 75 0 0 0 0 IKZF1 10320 broad.mit.edu 37 7 50467665 50467665 + Silent SNP G G A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr7:50467665G>A uc003tow.3 + 9 1068 c.900G>A c.(898-900)GAG>GAA p.E300E IKZF1_uc003tox.3_Silent_p.E258E|IKZF1_uc003toy.3_Silent_p.E258E|IKZF1_uc011kck.1_Silent_p.E213E|IKZF1_uc003toz.3_Silent_p.E270E|IKZF1_uc010kyx.2_Silent_p.E40E|IKZF1_uc003tpa.3_Silent_p.E42E NM_006060 NP_006051 Q13422 IKZF1_HUMAN zinc finger protein, subfamily 1A, 1 (Ikaros) 300 cell cycle|chromatin modification|mesoderm development cytoplasm|nucleus zinc ion binding haematopoietic_and_lymphoid_tissue(147)|lung(1) 148 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07) CCAGCTACGAGAAGGAGAACG 0.637 NA D ALL 4 20 0 0 0 0 ABCB1 5243 broad.mit.edu 37 7 87179526 87179526 + Silent SNP G G C TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr7:87179526G>C uc003uiz.1 - 13 1729 c.1311C>G c.(1309-1311)GTC>GTG p.V437V ABCB1_uc011khc.1_Silent_p.V373V NM_000927 NP_000918 P08183 MDR1_HUMAN ATP-binding cassette, subfamily B, member 1 437 ABC transporter 1.|Cytoplasmic (Potential). G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) GCATCAGCTGGACTGTTGTGC 0.557 NA 3 48 0 0 0 0 MCM7 4176 broad.mit.edu 37 7 99693502 99693502 + Missense_Mutation SNP G G C TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr7:99693502G>C uc003usw.1 - 11 2000 c.1490C>G c.(1489-1491)CCT>CGT p.P497R MCM7_uc003usv.1_Missense_Mutation_p.P321R|MCM7_uc003usx.1_Missense_Mutation_p.P321R|uc003usy.1_5'Flank|MIR25_hsa-mir-25|MI0000082_5'Flank|uc003usz.1_5'Flank|MIR93_hsa-mir-93|MI0000095_5'Flank|uc003uta.1_5'Flank|MIR106B_hsa-mir-106b|MI0000734_5'Flank NM_005916 NP_005907 P33993 MCM7_HUMAN minichromosome maintenance complex component 7 497 MCM. cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle chromatin|MCM complex ATP binding|protein binding 0 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) Atorvastatin(DB01076) GCTGCGGCGAGGGTTGTAGCG 0.622 NA 34 67 0 0 0 0 C7orf51 222950 broad.mit.edu 37 7 100085946 100085946 + Missense_Mutation SNP G G A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr7:100085946G>A uc003uvd.1 + 4 761 c.602G>A c.(601-603)CGA>CAA p.R201Q C7orf51_uc003uve.1_5'UTR NM_173564 NP_775835 Q6ZVC0 CG051_HUMAN hypothetical protein FLJ37538 201 skin(1) 1 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) AGGGGGTCCCGAGTAGCTGGG 0.632 NA 34 83 0 0 0 0 ACTL6B 51412 broad.mit.edu 37 7 100253069 100253069 + Silent SNP G G A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr7:100253069G>A uc003uvy.2 - 3 350 c.243C>T c.(241-243)GTC>GTT p.V81V ACTL6B_uc003uvz.2_RNA|uc003uwa.1_5'Flank NM_016188 NP_057272 O94805 ACL6B_HUMAN actin-like 6B 81 Essential for mediating its function in dendritic development; may contribute to neuronal-specific targeting (By similarity). chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nBAF complex|SWI/SNF complex ATP binding|protein binding|structural constituent of cytoskeleton ovary(1) 1 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) GGGGCGACATGACCTCCGCTC 0.612 NA 29 74 0 0 0 0 CUL1 8454 broad.mit.edu 37 7 148427271 148427271 + Silent SNP G G A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr7:148427271G>A uc010lpg.2 + 2 583 c.57G>A c.(55-57)CAG>CAA p.Q19Q CUL1_uc003wey.2_Silent_p.Q19Q|CUL1_uc003wez.2_5'UTR NM_003592 NP_003583 Q13616 CUL1_HUMAN cullin 1 19 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) GCCTGGACCAGATCTGGGACG 0.562 NA 23 59 0 0 0 0 CUL1 8454 broad.mit.edu 37 7 148484186 148484186 + Missense_Mutation SNP G G A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr7:148484186G>A uc010lpg.2 + 13 1979 c.1453G>A c.(1453-1455)GAA>AAA p.E485K CUL1_uc003wey.2_Missense_Mutation_p.E485K|CUL1_uc003wez.2_Missense_Mutation_p.E375K|CUL1_uc003wfa.2_Missense_Mutation_p.E146K NM_003592 NP_003583 Q13616 CUL1_HUMAN cullin 1 485 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) TGACGATGCCGAAGCCAGCAT 0.398 NA 66 17 0 0 0 0 PRKAG2 51422 broad.mit.edu 37 7 151262822 151262822 + Silent SNP A A T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr7:151262822A>T uc003wkk.2 - 12 1994 c.1383T>A c.(1381-1383)CCT>CCA p.P461P PRKAG2_uc003wki.2_Silent_p.P220P|PRKAG2_uc011kvl.1_Silent_p.P336P|PRKAG2_uc003wkj.2_Silent_p.P417P|PRKAG2_uc003wkl.2_Intron NM_016203 NP_057287 Q9UGJ0 AAKG2_HUMAN AMP-activated protein kinase gamma2 subunit 461 CBS 3. ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process AMP-activated protein kinase complex|cytosol|nucleoplasm ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding breast(1)|kidney(1) 2 all_neural(206;0.187) all_hematologic(28;0.0605) OV - Ovarian serous cystadenocarcinoma(82;0.00252) UCEC - Uterine corpus endometrioid carcinoma (81;0.185) CATCCACAACAGGCAGAGCTG 0.433 NA 24 73 0 0 0 0 WDR60 55112 broad.mit.edu 37 7 158679719 158679719 + Missense_Mutation SNP G G C TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr7:158679719G>C uc003woe.3 + 7 1101 c.943G>C c.(943-945)GAG>CAG p.E315Q WDR60_uc010lqv.2_RNA|WDR60_uc010lqw.2_5'UTR NM_018051 NP_060521 Q8WVS4 WDR60_HUMAN WD repeat domain 60 315 ovary(2)|breast(1)|central_nervous_system(1) 4 Ovarian(565;0.152) all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18) CAGGCATGCTGAGAATTTAGT 0.313 NA 34 13 0 0 0 0 NEIL2 252969 broad.mit.edu 37 8 11637314 11637314 + Missense_Mutation SNP G G C TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr8:11637314G>C uc003wug.2 + 3 1021 c.346G>C c.(346-348)GAG>CAG p.E116Q NEIL2_uc003wue.2_Missense_Mutation_p.E116Q|NEIL2_uc003wuf.2_Missense_Mutation_p.E55Q|NEIL2_uc011kxd.1_Intron NM_145043 NP_659480 Q969S2 NEIL2_HUMAN nei like 2 isoform a 116 base-excision repair|nucleotide-excision repair nucleus damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding 0 all_epithelial(15;0.103) STAD - Stomach adenocarcinoma(15;0.00225) COAD - Colon adenocarcinoma(149;0.166) GGATGATTCTGAGTATTTGGA 0.602 NA BER_DNA_glycosylases 31 48 0 0 0 0 TEX15 56154 broad.mit.edu 37 8 30699749 30699749 + Missense_Mutation SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr8:30699749C>T uc003xil.2 - 1 6785 c.6785G>A c.(6784-6786)AGA>AAA p.R2262K NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN testis expressed 15 2262 ovary(3)|upper_aerodigestive_tract(2)|skin(2) 7 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) AATCTTCCTTCTGTTATACAG 0.303 NA 23 52 0 0 0 0 GPR124 25960 broad.mit.edu 37 8 37696479 37696479 + Silent SNP G G C TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr8:37696479G>C uc003xkj.2 + 15 2628 c.2265G>C c.(2263-2265)CTG>CTC p.L755L GPR124_uc010lvy.2_Silent_p.L538L NM_032777 NP_116166 Q96PE1 GP124_HUMAN G protein-coupled receptor 124 precursor 755 GPS.|Extracellular (Potential). central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis integral to membrane|plasma membrane G-protein coupled receptor activity large_intestine(2)|ovary(2)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) CCCAGGAGCTGAGCGCCTTTC 0.677 NA 14 57 0 0 0 0 DNAJC5B 85479 broad.mit.edu 37 8 66992626 66992626 + Silent SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr8:66992626C>T uc003xvs.1 + 5 639 c.348C>T c.(346-348)ATC>ATT p.I116I DNAJC5B_uc003xvt.1_RNA NM_033105 NP_149096 Q9UF47 DNJ5B_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 5 116 protein folding membrane heat shock protein binding|unfolded protein binding 0 Lung NSC(129;0.114)|all_lung(136;0.188) Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112) TGTTTGTCATCGTTGGCCTCT 0.423 NA 24 58 0 0 0 0 CNGB3 54714 broad.mit.edu 37 8 87623893 87623893 + Missense_Mutation SNP C C G TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr8:87623893C>G uc003ydx.2 - 14 1631 c.1585G>C c.(1585-1587)GAT>CAT p.D529H CNGB3_uc010maj.2_Missense_Mutation_p.D391H NM_019098 NP_061971 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 529 Cytoplasmic (Potential). signal transduction|visual perception integral to membrane cGMP binding ovary(2)|pancreas(1) 3 ATCTGTGTATCACAACCCTAT 0.294 NA 10 34 0 0 0 0 NECAB1 64168 broad.mit.edu 37 8 91940500 91940500 + Silent SNP G G A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr8:91940500G>A uc011lgg.1 + 8 860 c.666G>A c.(664-666)CAG>CAA p.Q222Q NM_022351 NP_071746 Q8N987 NECA1_HUMAN N-terminal EF-hand calcium binding protein 1 222 Potential. antibiotic biosynthetic process cytoplasm calcium ion binding|oxidoreductase activity central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(11;0.0499) ATAGACTCCAGAAATTAATTG 0.383 NA 32 52 0 0 0 0 NECAB1 64168 broad.mit.edu 37 8 91940510 91940510 + Missense_Mutation SNP G G C TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr8:91940510G>C uc011lgg.1 + 8 870 c.676G>C c.(676-678)GAT>CAT p.D226H NM_022351 NP_071746 Q8N987 NECA1_HUMAN N-terminal EF-hand calcium binding protein 1 226 Potential. antibiotic biosynthetic process cytoplasm calcium ion binding|oxidoreductase activity central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(11;0.0499) GAAATTAATTGATAGACTGGA 0.383 NA 29 51 0 0 0 0 MATN2 4147 broad.mit.edu 37 8 98943558 98943558 + Nonsense_Mutation SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr8:98943558C>T uc003yic.2 + 3 751 c.520C>T c.(520-522)CAG>TAG p.Q174* MATN2_uc003yib.1_Nonsense_Mutation_p.Q174*|MATN2_uc010mbh.1_Nonsense_Mutation_p.Q174*|MATN2_uc003yid.2_Nonsense_Mutation_p.Q174*|MATN2_uc003yie.1_Nonsense_Mutation_p.Q174*|MATN2_uc010mbi.1_Nonsense_Mutation_p.Q48* NM_002380 NP_002371 O00339 MATN2_HUMAN matrilin 2 isoform a precursor 174 VWFA 1. proteinaceous extracellular matrix calcium ion binding ovary(2) 2 Breast(36;1.43e-06) OV - Ovarian serous cystadenocarcinoma(57;0.244) TGGGAGACCTCAGGACTCCGT 0.577 NA 5 39 0 0 0 0 RGS22 26166 broad.mit.edu 37 8 101016160 101016160 + Missense_Mutation SNP G G A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr8:101016160G>A uc003yjb.1 - 17 2816 c.2621C>T c.(2620-2622)TCT>TTT p.S874F RGS22_uc003yja.1_Missense_Mutation_p.S693F|RGS22_uc003yjc.1_Missense_Mutation_p.S862F|RGS22_uc011lgz.1_RNA NM_015668 NP_056483 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 874 RGS 1. 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) TCACCTTGAAGAATGAGTCTC 0.328 NA 14 29 0 0 0 0 AZIN1 51582 broad.mit.edu 37 8 103848575 103848575 + Missense_Mutation SNP C C T rs142265787 TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr8:103848575C>T uc003ykx.2 - 7 1235 c.493G>A c.(493-495)GAG>AAG p.E165K AZIN1_uc003yky.2_Missense_Mutation_p.E165K NM_015878 NP_056962 O14977 AZIN1_HUMAN ornithine decarboxylase antizyme inhibitor 165 polyamine biosynthetic process|regulation of cellular amino acid metabolic process cytosol catalytic activity|protein binding 0 Lung NSC(17;0.000143)|all_lung(17;0.000294) OV - Ovarian serous cystadenocarcinoma(57;0.000196)|STAD - Stomach adenocarcinoma(118;0.0414) ATGTTACCCTCTTCACCTCCA 0.413 NA 31 69 0 0 0 0 TG 7038 broad.mit.edu 37 8 133898883 133898883 + Silent SNP C C G TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr8:133898883C>G uc003ytw.2 + 9 1307 c.1266C>G c.(1264-1266)CTC>CTG p.L422L NM_003235 NP_003226 P01266 THYG_HUMAN thyroglobulin precursor 422 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1) 15 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) CTGGGCTTCTCCGCCCAATGG 0.537 NA 8 228 0 0 0 0 EPPK1 83481 broad.mit.edu 37 8 144943655 144943655 + Missense_Mutation SNP G G A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr8:144943655G>A uc003zaa.1 - 1 3780 c.3767C>T c.(3766-3768)TCT>TTT p.S1256F NM_031308 NP_112598 P58107 EPIPL_HUMAN epiplakin 1 1256 Plectin 21. cytoplasm|cytoskeleton protein binding|structural molecule activity pancreas(1)|skin(1) 2 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CTTGGCCCCAGAGGGCTGTAG 0.716 NA 10 12 0 0 0 0 PLEC 5339 broad.mit.edu 37 8 144990624 144990624 + Silent SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr8:144990624C>T uc003zaf.1 - 32 13946 c.13776G>A c.(13774-13776)GTG>GTA p.V4592V PLEC_uc003zab.1_Silent_p.V4455V|PLEC_uc003zac.1_Silent_p.V4459V|PLEC_uc003zad.2_Silent_p.V4455V|PLEC_uc003zae.1_Silent_p.V4423V|PLEC_uc003zag.1_Silent_p.V4433V|PLEC_uc003zah.2_Silent_p.V4441V|PLEC_uc003zaj.2_Silent_p.V4482V NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 4592 Globular 2.|Plectin 33. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 TGCCCTCCTCCACCATGCTGC 0.647 NA 5 148 0 0 0 0 IFNA17 3451 broad.mit.edu 37 9 21227646 21227646 + Missense_Mutation SNP G G C TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr9:21227646G>C uc003zos.1 - 1 576 c.527C>G c.(526-528)TCT>TGT p.S176C IFNA14_uc003zoo.1_Intron NM_021268 NP_067091 P01571 IFN17_HUMAN interferon, alpha 17 precursor 176 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding 0 Lung(24;2.13e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116) TGTTGAAAAAGAGAGAGATCT 0.373 NA 78 278 0 0 0 0 KIF24 347240 broad.mit.edu 37 9 34256601 34256601 + Missense_Mutation SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr9:34256601C>T uc003zua.3 - 11 3124 c.3004G>A c.(3004-3006)GAC>AAC p.D1002N KIF24_uc010mkb.2_Intron NM_194313 NP_919289 Q5T7B8 KIF24_HUMAN kinesin family member 24 1002 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity central_nervous_system(1) 1 LUSC - Lung squamous cell carcinoma(29;0.0107) GTGACTGTGTCTCTTTGGTCT 0.537 NA 56 81 0 0 0 0 SIGMAR1 10280 broad.mit.edu 37 9 34635731 34635731 + Silent SNP G G T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr9:34635731G>T uc003zvb.2 - 4 644 c.570C>A c.(568-570)GTC>GTA p.V190V SIGMAR1_uc003zva.3_Silent_p.V170V|SIGMAR1_uc003zuz.2_Silent_p.V101V|SIGMAR1_uc003zvc.2_Silent_p.V159V|SIGMAR1_uc003zvd.2_RNA|SIGMAR1_uc011loo.1_Intron NM_005866 NP_005857 Q99720 SGMR1_HUMAN sigma non-opioid intracellular receptor 1 190 Cytoplasmic (Potential). ergosterol biosynthetic process|lipid transport cell junction|endoplasmic reticulum membrane|growth cone|integral to plasma membrane|lipid particle|nuclear inner membrane|nuclear outer membrane C-8 sterol isomerase activity|drug binding 0 Dextromethorphan(DB00514) GGGTGCTGAAGACAGTGTCGG 0.617 NA 14 55 0.000151284 0.000202468 1 0 FRMPD1 22844 broad.mit.edu 37 9 37740340 37740340 + Silent SNP G G C TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr9:37740340G>C uc004aag.1 + 15 1859 c.1815G>C c.(1813-1815)TCG>TCC p.S605S FRMPD1_uc004aah.1_Silent_p.S605S|FRMPD1_uc011lqm.1_Silent_p.S427S|FRMPD1_uc011lqn.1_Silent_p.S474S NM_014907 NP_055722 Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 605 cytoskeleton|cytosol|plasma membrane ovary(4)|central_nervous_system(2)|skin(2)|breast(1) 9 GBM - Glioblastoma multiforme(29;0.00655) CCAGTGGCTCGAGTGAGTCCA 0.637 NA 22 25 0 0 0 0 IARS 3376 broad.mit.edu 37 9 95036734 95036734 + Missense_Mutation SNP C C G TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr9:95036734C>G uc004art.1 - 10 1221 c.964G>C c.(964-966)GTC>CTC p.V322L IARS_uc004ars.1_Missense_Mutation_p.V167L|IARS_uc004aru.3_Missense_Mutation_p.V322L|IARS_uc010mqr.2_Missense_Mutation_p.V212L|IARS_uc010mqt.2_Intron NM_013417 NP_038203 P41252 SYIC_HUMAN isoleucine tRNA synthetase 322 isoleucyl-tRNA aminoacylation cytosol|nucleus|soluble fraction ATP binding|isoleucine-tRNA ligase activity|protein binding ovary(1)|skin(1) 2 L-Isoleucine(DB00167) GCTTGGTGGACAACCCCTGTG 0.473 NA 3 129 0 0 0 0 SMC2 10592 broad.mit.edu 37 9 106864358 106864358 + Missense_Mutation SNP G G C TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr9:106864358G>C uc004bbv.2 + 8 1042 c.754G>C c.(754-756)GAA>CAA p.E252Q SMC2_uc004bbu.1_Missense_Mutation_p.E252Q|SMC2_uc004bbw.2_Missense_Mutation_p.E252Q|SMC2_uc011lvl.1_Missense_Mutation_p.E252Q|SMC2_uc010mtg.1_Missense_Mutation_p.E107Q|SMC2_uc010mth.1_Missense_Mutation_p.E202Q|SMC2_uc004bbx.2_Missense_Mutation_p.E252Q NM_001042551 NP_001036016 O95347 SMC2_HUMAN structural maintenance of chromosomes 2 252 Potential. cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism condensin complex|cytoplasm|nuclear chromosome ATP binding|protein heterodimerization activity ovary(4)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|breast(1) 9 CTCAGCTGAGGAATTAAAAGA 0.313 NA 16 117 0 0 0 0 OR13C4 138804 broad.mit.edu 37 9 107288808 107288808 + Missense_Mutation SNP G G A rs139144967 TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr9:107288808G>A uc011lvn.1 - 1 683 c.683C>T c.(682-684)ACG>ATG p.T228M NM_001001919 NP_001001919 Q8NGS5 O13C4_HUMAN olfactory receptor, family 13, subfamily C, 228 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 GGCCGAGTTCGTTCGCAAGAT 0.403 NA 66 71 0 0 0 0 CTNNAL1 8727 broad.mit.edu 37 9 111705270 111705270 + Missense_Mutation SNP G G C TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr9:111705270G>C uc004bdo.1 - 18 2152 c.2110C>G c.(2110-2112)CTT>GTT p.L704V CTNNAL1_uc010mts.1_Missense_Mutation_p.L356V|CTNNAL1_uc010mtt.1_Missense_Mutation_p.L666V|CTNNAL1_uc004bdp.1_Missense_Mutation_p.L704V|CTNNAL1_uc004bdq.1_Missense_Mutation_p.L190V NM_003798 NP_003789 Q9UBT7 CTNL1_HUMAN catenin, alpha-like 1 704 cell adhesion|Rho protein signal transduction actin cytoskeleton|cytosol|plasma membrane cadherin binding|structural molecule activity ovary(1) 1 STAD - Stomach adenocarcinoma(157;0.0768) CAAAGTGAAAGAAGTTGGACT 0.303 NA 19 20 0 0 0 0 GARNL3 84253 broad.mit.edu 37 9 130116626 130116626 + Missense_Mutation SNP G G C TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr9:130116626G>C uc011mae.1 + 19 2097 c.1696G>C c.(1696-1698)GAG>CAG p.E566Q GARNL3_uc011mad.1_Missense_Mutation_p.E544Q|GARNL3_uc010mxi.2_5'Flank NM_032293 NP_115669 Q5VVW2 GARL3_HUMAN GTPase activating Rap/RanGAP domain-like 3 566 CNH. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity|small GTPase regulator activity ovary(1)|central_nervous_system(1)|skin(1) 3 AAAGGGCCTTGAGGGGAAGCA 0.443 NA 25 43 0 0 0 0 PPAPDC3 84814 broad.mit.edu 37 9 134165521 134165521 + Nonsense_Mutation SNP C C G TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr9:134165521C>G uc004cal.2 + 1 441 c.137C>G c.(136-138)TCA>TGA p.S46* NM_032728 NP_116117 Q8NBV4 PPAC3_HUMAN phosphatidic acid phosphatase type 2 domain 46 Cytoplasmic (Potential). endoplasmic reticulum membrane|integral to membrane|nuclear envelope hydrolase activity breast(1) 1 all_hematologic(7;0.0119) OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173) TCGGGCCCATCAGCACAGCCC 0.682 NA 9 23 0 0 0 0 GBGT1 26301 broad.mit.edu 37 9 136031310 136031310 + Nonsense_Mutation SNP G G A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr9:136031310G>A uc004ccw.2 - 5 483 c.202C>T c.(202-204)CAG>TAG p.Q68* RALGDS_uc011mcw.1_Missense_Mutation_p.S80L|GBGT1_uc004ccx.2_Nonsense_Mutation_p.Q21*|GBGT1_uc010nab.2_Nonsense_Mutation_p.Q68*|GBGT1_uc011mcx.1_Nonsense_Mutation_p.Q51*|GBGT1_uc010nac.1_5'UTR|GBGT1_uc004ccy.1_Nonsense_Mutation_p.Q68* NM_021996 NP_068836 Q8N5D6 GBGT1_HUMAN globoside 68 Lumenal (Potential). carbohydrate metabolic process|glycolipid biosynthetic process Golgi membrane|integral to membrane metal ion binding 0 OV - Ovarian serous cystadenocarcinoma(145;3.49e-06)|Epithelial(140;2.59e-05) AGCTTGGGCTGAGGGTACTGT 0.557 NA 53 61 0 0 0 0 NOTCH1 4851 broad.mit.edu 37 9 139401042 139401042 + Missense_Mutation SNP C C G TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr9:139401042C>G uc004chz.2 - 24 3951 c.3951G>C c.(3949-3951)AAG>AAC p.K1317N NOTCH1_uc004cia.1_Missense_Mutation_p.K547N NM_017617 NP_060087 P46531 NOTC1_HUMAN notch1 preproprotein 1317 Extracellular (Potential).|EGF-like 34. aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1) 856 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) TGCCCCCATTCTTGCAGGGCT 0.687 NA T|Mis|O TRB@ T-ALL HNSCC(8;0.001) 3 17 0 0 0 0 NDOR1 27158 broad.mit.edu 37 9 140109353 140109353 + Silent SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr9:140109353C>T uc004clw.2 + 8 1059 c.948C>T c.(946-948)CTC>CTT p.L316L NDOR1_uc004clx.2_Silent_p.L316L|NDOR1_uc011mes.1_Silent_p.L316L|NDOR1_uc004cly.2_Silent_p.L282L NM_014434 NP_055249 Q9UHB4 NDOR1_HUMAN NADPH dependent diflavin oxidoreductase 1 316 FAD-binding FR-type. cell death cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding 0 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057) TCTTCGAACTCCTGGCCTGTC 0.637 NA 67 47 0 0 0 0 EHMT1 79813 broad.mit.edu 37 9 140728824 140728824 + Silent SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr9:140728824C>T uc011mfc.1 + 26 3601 c.3564C>T c.(3562-3564)GAC>GAT p.D1188D EHMT1_uc004coe.2_Silent_p.D93D NM_024757 NP_079033 Q9H9B1 EHMT1_HUMAN euchromatic histone-lysine N-methyltransferase 1 1188 SET. 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) ACTGCATCGACGCGCGGTTCT 0.672 NA 12 37 0 0 0 0 SYAP1 94056 broad.mit.edu 37 X 16774794 16774794 + Missense_Mutation SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chrX:16774794C>T uc004cxp.2 + 7 826 c.733C>T c.(733-735)CGG>TGG p.R245W SYAP1_uc004cxo.2_Missense_Mutation_p.R245W|SYAP1_uc011miv.1_Missense_Mutation_p.R211W NM_032796 NP_116185 Q96A49 SYAP1_HUMAN SYAP1 protein 245 skin(1) 1 Hepatocellular(33;0.0997) AGAGGCAGTACGGCCCAAAAC 0.343 NA 12 33 0 0 0 0 MED14 9282 broad.mit.edu 37 X 40534538 40534538 + Missense_Mutation SNP A A T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chrX:40534538A>T uc004dex.3 - 22 3096 c.2956T>A c.(2956-2958)TCT>ACT p.S986T NM_004229 NP_004220 O60244 MED14_HUMAN mediator complex subunit 14 986 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(2)|kidney(1)|skin(1) 4 CCTATAGGAGAAGGGGGATTA 0.423 NA 14 39 0 0 0 0 CACNA1F 778 broad.mit.edu 37 X 49067781 49067781 + Splice_Site SNP C C A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chrX:49067781C>A uc004dnb.2 - 36 4355 c.4293_splice c.e36+1 p.L1431_splice CACNA1F_uc010nip.2_Splice_Site_p.L1420_splice NM_005183 NP_005174 O60840 CAC1F_HUMAN calcium channel, voltage-dependent, L type, 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) ATGGTTCTCACCAGGAAGGCA 0.552 NA 9 31 0.000442599 0.000589399 1 0 AKAP4 8852 broad.mit.edu 37 X 49958650 49958650 + Silent SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chrX:49958650C>T uc004dow.1 - 5 838 c.714G>A c.(712-714)GAG>GAA p.E238E AKAP4_uc004dov.1_Intron|AKAP4_uc010njp.1_Silent_p.E60E|AKAP4_uc004dou.1_Silent_p.E229E NM_003886 NP_003877 Q5JQC9 AKAP4_HUMAN A-kinase anchor protein 4 isoform 1 238 cell projection organization|single fertilization|sperm motility cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum protein kinase A binding kidney(3)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1) 8 Ovarian(276;0.236) CTTCCAACTTCTCCTTGATTT 0.448 NA 30 90 0 0 0 0 DGAT2L6 347516 broad.mit.edu 37 X 69424816 69424816 + Missense_Mutation SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chrX:69424816C>T uc004dxx.1 + 7 971 c.874C>T c.(874-876)CCA>TCA p.P292S NM_198512 NP_940914 Q6ZPD8 DG2L6_HUMAN diacylglycerol O-acyltransferase 2-like 6 292 lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane acyltransferase activity ovary(1) 1 GGAACCCCTTCCAATTCCCAG 0.463 NA 10 26 0 0 0 0 P2RY10 27334 broad.mit.edu 37 X 78216842 78216842 + Missense_Mutation SNP C C A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chrX:78216842C>A uc004ede.2 + 4 1194 c.825C>A c.(823-825)AGC>AGA p.S275R P2RY10_uc004edf.2_Missense_Mutation_p.S275R NM_014499 NP_055314 O00398 P2Y10_HUMAN G-protein coupled purinergic receptor P2Y10 275 Extracellular (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled ovary(2)|lung(2)|breast(1) 5 CCATCATTAGCAGTTGTCCCG 0.423 NA 80 161 3.37e-29 4.74e-29 1 0 BRWD3 254065 broad.mit.edu 37 X 79975138 79975138 + Missense_Mutation SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chrX:79975138C>T uc004edt.2 - 18 2157 c.1894G>A c.(1894-1896)GAA>AAA p.E632K BRWD3_uc010nmi.1_RNA|BRWD3_uc004edo.2_Missense_Mutation_p.E228K|BRWD3_uc004edp.2_Missense_Mutation_p.E461K|BRWD3_uc004edq.2_Missense_Mutation_p.E228K|BRWD3_uc010nmj.1_Missense_Mutation_p.E228K|BRWD3_uc004edr.2_Missense_Mutation_p.E302K|BRWD3_uc004eds.2_Missense_Mutation_p.E228K|BRWD3_uc004edu.2_Missense_Mutation_p.E302K|BRWD3_uc004edv.2_Missense_Mutation_p.E228K|BRWD3_uc004edw.2_Missense_Mutation_p.E228K|BRWD3_uc004edx.2_Missense_Mutation_p.E228K|BRWD3_uc004edy.2_Missense_Mutation_p.E228K|BRWD3_uc004edz.2_Missense_Mutation_p.E302K|BRWD3_uc004eea.2_Missense_Mutation_p.E302K|BRWD3_uc004eeb.2_Missense_Mutation_p.E228K NM_153252 NP_694984 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 632 ovary(4) 4 ATTACCTGTTCTACTACCTCA 0.358 NA 30 86 0 0 0 0 DIAPH2 1730 broad.mit.edu 37 X 96204003 96204003 + Missense_Mutation SNP G G A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chrX:96204003G>A uc004efu.3 + 15 1975 c.1579G>A c.(1579-1581)GAA>AAA p.E527K DIAPH2_uc004eft.3_Missense_Mutation_p.E527K NM_006729 NP_006720 O60879 DIAP2_HUMAN diaphanous 2 isoform 156 527 Potential. cell differentiation|cytokinesis|multicellular organismal development|oogenesis cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus receptor binding|Rho GTPase binding ovary(3)|lung(1) 4 GAAAATCAAAGAACTTGAAGC 0.373 NA 11 30 0 0 0 0 XKRX 402415 broad.mit.edu 37 X 100169570 100169570 + Missense_Mutation SNP G G C TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chrX:100169570G>C uc004egn.2 - 3 1712 c.1107C>G c.(1105-1107)TTC>TTG p.F369L XKRX_uc011mre.1_Missense_Mutation_p.F165L NM_212559 NP_997724 Q6PP77 XKR2_HUMAN XK, Kell blood group complex subunit-related, 369 Helical; (Potential). integral to membrane|plasma membrane breast(1) 1 TCACTCCAAAGAACTTAAAAA 0.428 NA 51 114 0 0 0 0 COL4A5 1287 broad.mit.edu 37 X 107925060 107925060 + Missense_Mutation SNP C C G TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chrX:107925060C>G uc004enz.1 + 46 4360 c.4158C>G c.(4156-4158)ATC>ATG p.I1386M COL4A5_uc011mso.1_Missense_Mutation_p.I1383M|COL4A5_uc011msp.1_Missense_Mutation_p.I62M NM_033380 NP_203699 P29400 CO4A5_HUMAN type IV collagen alpha 5 isoform 2 precursor 1380 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding ovary(3)|central_nervous_system(1) 4 CTCCAGGAATCCCTGGCCAGC 0.443 NA Alport_syndrome_with_Diffuse_Leiomyomatosis 13 58 0 0 0 0 SLC25A43 203427 broad.mit.edu 37 X 118586986 118586986 + Missense_Mutation SNP C C A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chrX:118586986C>A uc004erd.2 + 5 1328 c.984C>A c.(982-984)TTC>TTA p.F328L SLC25A43_uc011mtt.1_3'UTR NM_145305 NP_660348 Q8WUT9 S2543_HUMAN mitochondrial solute carrier protein 328 transmembrane transport integral to membrane|mitochondrial inner membrane binding skin(1) 1 TAAAGAAGTTCTTCAAAACGA 0.388 NA 36 82 1.07e-15 1.48e-15 1 0 SEPT6 23157 broad.mit.edu 37 X 118763373 118763373 + Silent SNP G G A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chrX:118763373G>A uc004erv.2 - 9 1453 c.1188C>T c.(1186-1188)TTC>TTT p.F396F SEPT6_uc010nqk.2_RNA|SEPT6_uc004ers.2_Silent_p.F396F|SEPT6_uc004ert.2_Silent_p.F396F|SEPT6_uc004eru.2_Silent_p.F396F|SEPT6_uc004erw.2_Silent_p.F338F|SEPT6_uc011mtv.1_Silent_p.F338F|SEPT6_uc011mtw.1_Silent_p.F426F NM_015129 NP_055944 Q14141 SEPT6_HUMAN septin 6 isoform B 396 Potential. cell cycle|cytokinesis|interspecies interaction between organisms cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle GTP binding|protein binding lung(1)|ovary(1)|prostate(1)|kidney(1) 4 TTCTTTGCTTGAAAGCATTCA 0.493 NA 67 101 0 0 0 0 ELF4 2000 broad.mit.edu 37 X 129203540 129203540 + Missense_Mutation SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chrX:129203540C>T uc004evd.3 - 8 1307 c.922G>A c.(922-924)GAA>AAA p.E308K ELF4_uc004eve.3_Missense_Mutation_p.E308K NM_001421 NP_001412 Q99607 ELF4_HUMAN E74-like factor 4 308 natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter PML body protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 GCTGTGGCTTCGCTGCTCTCA 0.602 NA T ERG AML 11 123 0 0 0 0 SAGE1 55511 broad.mit.edu 37 X 134989482 134989482 + Silent SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chrX:134989482C>T uc004ezh.2 + 9 1055 c.888C>T c.(886-888)GTC>GTT p.V296V SAGE1_uc010nry.1_Silent_p.V265V|SAGE1_uc011mvv.1_Intron NM_018666 NP_061136 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 1 296 ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(192;0.000127) ATTCCACCGTCCCTCACAATG 0.418 NA 5 82 0 0 0 0 SAGE1 55511 broad.mit.edu 37 X 134991057 134991057 + Silent SNP G G A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chrX:134991057G>A uc004ezh.2 + 13 1643 c.1476G>A c.(1474-1476)AAG>AAA p.K492K SAGE1_uc010nry.1_Silent_p.K461K|SAGE1_uc011mvv.1_Intron NM_018666 NP_061136 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 1 492 ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(192;0.000127) GTGAAGAGAAGATGGAAAGTG 0.468 NA 32 61 0 0 0 0 ZIC3 7547 broad.mit.edu 37 X 136652129 136652129 + Missense_Mutation SNP C C A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chrX:136652129C>A uc004fak.2 + 3 1809 c.1304C>A c.(1303-1305)TCT>TAT p.S435Y NM_003413 NP_003404 O60481 ZIC3_HUMAN zinc finger protein of the cerebellum 3 435 cell differentiation|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|breast(1) 3 Acute lymphoblastic leukemia(192;0.000127) GCTATAGCTTCTGCAAACAGT 0.438 NA 82 146 3.37e-29 4.74e-29 1 0 F9 2158 broad.mit.edu 37 X 138619217 138619217 + Missense_Mutation SNP G G A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chrX:138619217G>A uc004fas.1 + 2 166 c.137G>A c.(136-138)AGG>AAG p.R46K F9_uc004fat.1_Missense_Mutation_p.R46K NM_000133 NP_000124 P00740 FA9_HUMAN coagulation factor IX preproprotein 46 R -> T (in HEMB; severe).|R -> S (in HEMB; severe; Cambridge). blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane calcium ion binding|serine-type endopeptidase activity lung(2)|ovary(1) 3 Acute lymphoblastic leukemia(192;0.000127) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170) CGGCCAAAGAGGTATAATTCA 0.323 NA 8 173 0 0 0 0 SPANXN2 494119 broad.mit.edu 37 X 142795394 142795394 + Missense_Mutation SNP G G A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chrX:142795394G>A uc004fbz.2 - 2 1038 c.284C>T c.(283-285)TCT>TTT p.S95F NM_001009615 NP_001009615 Q5MJ10 SPXN2_HUMAN SPANX-N2 protein 95 ovary(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) CTCCTGTGAAGATCCTTCAGC 0.502 NA 164 354 0 0 0 0 GABRE 2564 broad.mit.edu 37 X 151123391 151123391 + Missense_Mutation SNP C C G TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chrX:151123391C>G uc004ffi.2 - 9 1357 c.1303G>C c.(1303-1305)GAG>CAG p.E435Q GABRE_uc011myd.1_RNA NM_004961 NP_004952 P78334 GBRE_HUMAN gamma-aminobutyric acid (GABA) A receptor, 435 Cytoplasmic (Probable). gamma-aminobutyric acid signaling pathway 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 Acute lymphoblastic leukemia(192;6.56e-05) CGGGGACCCTCAGGGCTACCT 0.592 NA 8 19 0 0 0 0 ATP2B3 492 broad.mit.edu 37 X 152845456 152845456 + Silent SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chrX:152845456C>T uc004fht.1 + 20 3489 c.3363C>T c.(3361-3363)TTC>TTT p.F1121F ATP2B3_uc004fhs.1_Missense_Mutation_p.P1173S|ATP2B3_uc010nuf.1_Silent_p.F258F|ATP2B3_uc004fhu.1_Silent_p.F73F NM_001001344 NP_001001344 Q16720 AT2B3_HUMAN plasma membrane calcium ATPase 3 isoform 3b 1121 Calmodulin-binding subdomain B (By similarity).|Cytoplasmic (Potential). ATP biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding pancreas(1) 1 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TGAAAGCGTTCCGTAGCTCGC 0.463 NA 51 70 0 0 0 0 EPHA8 2046 broad.mit.edu 37 1 22927210 22927212 + In_Frame_Del DEL CTC CTC - TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr1:22927210_22927212delCTC uc001bfx.1 + 14 2570_2572 c.2445_2447delCTC c.(2443-2448)TTCTCC>TTC p.S817del NM_020526 NP_065387 P29322 EPHA8_HUMAN ephrin receptor EphA8 isoform 1 precursor 817 Cytoplasmic (Potential).|Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1) 13 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) TCCGCACCTTCTCCTCGGCCAGC 0.665 NA 22 75 --- --- --- --- NA NA NA NA RCSD1 92241 broad.mit.edu 37 1 167666869 167666872 + Frame_Shift_Del DEL AAAG AAAG - TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr1:167666869_167666872delAAAG uc001gem.2 + 6 1195_1198 c.1008_1011delAAAG c.(1006-1011)ACAAAGfs p.T336fs RCSD1_uc010pli.1_Frame_Shift_Del_p.T306fs NM_052862 NP_443094 Q6JBY9 CPZIP_HUMAN RCSD domain containing 1 336_337 ovary(2)|central_nervous_system(2)|skin(1) 5 all_hematologic(923;0.215) GCCAAGAAACAAAGAAGCTGGAGG 0.554 NA 5 11 --- --- --- --- NA NA NA NA DDX21 9188 broad.mit.edu 37 10 70737400 70737400 + Frame_Shift_Del DEL G G - TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr10:70737400delG uc001jov.1 + 12 1948 c.1858delG c.(1858-1860)GGTfs p.G620fs DDX21_uc001jow.1_Frame_Shift_Del_p.G552fs NM_004728 NP_004719 Q9NR30 DDX21_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 21 620 nucleolus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding ovary(2)|kidney(1) 3 CCATATTTCAGGTGCCACGTC 0.502 NA 77 83 --- --- --- --- NA NA NA NA KRT6A 3853 broad.mit.edu 37 12 52882219 52882220 + Frame_Shift_Ins INS - - T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr12:52882219_52882220insT uc001sam.2 - 7 1525_1526 c.1316_1317insA c.(1315-1317)CAGfs p.Q439fs NM_005554 NP_005545 P02538 K2C6A_HUMAN keratin 6A 439 Rod.|Coil 2. cell differentiation|ectoderm development|positive regulation of cell proliferation keratin filament protein binding|structural constituent of cytoskeleton ovary(4)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(357;0.189) GGGCCAGGTCCTGCTTGGCCTT 0.624 NA 8 116 --- --- --- --- NA NA NA NA B2M 567 broad.mit.edu 37 15 45007631 45007632 + Frame_Shift_Ins INS - - A TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr15:45007631_45007632insA uc001zuc.2 + 2 138_139 c.78_79insA c.(76-81)AAGATTfs p.K26fs B2M_uc010uek.1_Frame_Shift_Ins_p.K26fs|B2M_uc010bdx.1_Frame_Shift_Ins_p.K26fs NM_004048 NP_004039 P61769 B2MG_HUMAN beta-2-microglobulin precursor 26_27 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) GTACTCCAAAGATTCAGGTTTA 0.421 NA 35 90 --- --- --- --- NA NA NA NA CRYBA1 1411 broad.mit.edu 37 17 27581304 27581307 + Frame_Shift_Del DEL GAGA GAGA - TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr17:27581304_27581307delGAGA uc002hdw.2 + 6 592_595 c.585_588delGAGA c.(583-588)TGGAGAfs p.W195fs NM_005208 NP_005199 P05813 CRBA1_HUMAN crystallin, beta A3 195_196 Beta/gamma crystallin 'Greek key' 4. visual perception soluble fraction structural constituent of eye lens 0 BRCA - Breast invasive adenocarcinoma(11;3.3e-05)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551) ATAAACATTGGAGAGAGTGGGGCT 0.441 NA 26 80 --- --- --- --- NA NA NA NA FOSL2 2355 broad.mit.edu 37 2 28634937 28634938 + Frame_Shift_Ins INS - - CCAG TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr2:28634937_28634938insCCAG uc002rma.2 + 4 1412_1413 c.603_604insCCAG c.(601-606)CCCCCAfs p.P201fs FOSL2_uc010ymi.1_Frame_Shift_Ins_p.P162fs NM_005253 NP_005244 P15408 FOSL2_HUMAN FOS-like antigen 2 201_202 cell death|regulation of transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|breast(1) 3 Acute lymphoblastic leukemia(172;0.155) GCCGATCGCCCCCAGCCCCTGG 0.644 NA 11 77 --- --- --- --- NA NA NA NA CLCN2 1181 broad.mit.edu 37 3 184079208 184079221 + Frame_Shift_Del DEL GGTCTGCTCGTACT GGTCTGCTCGTACT - rs143436017 TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chr3:184079208_184079221delGGTCTGCTCGTACT uc003foi.2 - 1 171_184 c.47_60delAGTACGAGCAGACC c.(46-60)CAGTACGAGCAGACCfs p.Q16fs CLCN2_uc010hya.1_Frame_Shift_Del_p.Q16fs|CLCN2_uc011brl.1_Frame_Shift_Del_p.Q16fs|CLCN2_uc011brm.1_Frame_Shift_Del_p.Q16fs|CLCN2_uc011brn.1_Frame_Shift_Del_p.Q16fs|POLR2H_uc003foj.1_5'Flank|POLR2H_uc003fok.1_5'Flank NM_004366 NP_004357 P51788 CLCN2_HUMAN chloride channel 2 16_20 Cytoplasmic (By similarity). chloride channel complex voltage-gated chloride channel activity 0 all_cancers(143;6.66e-11)|Ovarian(172;0.0339) Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) Lubiprostone(DB01046) CACTTACCAGGGTCTGCTCGTACTGCAGCGCCCG 0.692 NA 9 56 --- --- --- --- NA NA NA NA NAP1L3 4675 broad.mit.edu 37 X 92927775 92927775 + Frame_Shift_Del DEL C C - TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chrX:92927775delC uc004efq.2 - 1 834 c.529delG c.(529-531)GTGfs p.V177fs FAM133A_uc004efr.1_5'Flank NM_004538 NP_004529 Q99457 NP1L3_HUMAN nucleosome assembly protein 1-like 3 177 Glu-rich. nucleosome assembly chromatin assembly complex ovary(1)|skin(1) 2 TTATCCTGCACCTCCTCATCA 0.453 NA 27 74 --- --- --- --- NA NA NA NA DOCK11 139818 broad.mit.edu 37 X 117707777 117707778 + Frame_Shift_Ins INS - - T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12a04e68-c814-4a18-a469-d7edc76e362d 2fa45425-c966-45cb-9f21-e4e135882e5a g.chrX:117707777_117707778insT uc004eqp.2 + 12 1248_1249 c.1185_1186insT c.(1183-1188)CCCTTTfs p.P395fs DOCK11_uc004eqq.2_Frame_Shift_Ins_p.P161fs NM_144658 NP_653259 Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 395_396 blood coagulation cytosol GTP binding ovary(3) 3 AGGTTGAGCCCTTTTTTATCAA 0.411 NA 52 137 --- --- --- --- NA NA NA NA