Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content ACHILLES_Top_Genes CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut KIAA1751 85452 broad.mit.edu 37 1 1895210 1895210 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:1895210G>T uc001aim.1 - 14 1828 c.1672C>A c.(1672-1674)CTC>ATC p.L558I KIAA1751_uc009vkz.1_Missense_Mutation_p.L558I NM_001080484 NP_001073953 Q9C0B2 K1751_HUMAN hypothetical protein LOC85452 558 pancreas(1) 1 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205) AAGTCCCGGAGGTGCTCCTCC 0.532 NA 4 30 1.23904e-05 1.67149e-05 0.000602 1 0 KIAA1751 85452 broad.mit.edu 37 1 1903427 1903427 + Missense_Mutation SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:1903427C>T uc001aim.1 - 9 1036 c.880G>A c.(880-882)GCG>ACG p.A294T KIAA1751_uc009vkz.1_Missense_Mutation_p.A294T NM_001080484 NP_001073953 Q9C0B2 K1751_HUMAN hypothetical protein LOC85452 294 pancreas(1) 1 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205) ACCCGGTTCGCGGAGATGCTG 0.682 NA 7 33 0 0 0.001984 0 0 CA6 765 broad.mit.edu 37 1 9034716 9034716 + Missense_Mutation SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:9034716C>T uc001apm.2 + 8 904 c.880C>T c.(880-882)CAT>TAT p.H294Y CA6_uc009vmn.2_Missense_Mutation_p.H234Y NM_001215 NP_001206 P23280 CAH6_HUMAN carbonic anhydrase VI precursor 294 one-carbon metabolic process extracellular region carbonate dehydratase activity|zinc ion binding ovary(2) 2 Ovarian(185;0.112)|all_lung(157;0.143) all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649) GTTTTACCTACATAAGATTGA 0.378 NA 4 20 0 0 0.009096 0 0 C1orf127 148345 broad.mit.edu 37 1 11008728 11008728 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:11008728C>A uc010oao.1 - 8 1022 c.1017G>T c.(1015-1017)GAG>GAT p.E339D C1orf127_uc001arr.1_Missense_Mutation_p.E321D|C1orf127_uc001ars.1_Missense_Mutation_p.E313D NM_173507 NP_775778 B7ZLG7 B7ZLG7_HUMAN hypothetical protein LOC148345 339 ovary(1) 1 Ovarian(185;0.249) Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509) CCTGGACACCCTCTACAGGCT 0.677 NA 7 41 8.12818e-05 0.000102047 0.001984 1 0 PRAMEF22 653606 broad.mit.edu 37 1 13036621 13036621 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:13036621C>A uc009vnq.1 + 2 693 c.693C>A c.(691-693)AGC>AGA p.S231R PRAMEF5_uc001aur.2_Intron NM_001100631 NP_001094101 A3QJZ6 PRA22_HUMAN PRAME family member 22 231 0 GTTACCTGAGCCAGATGAGGA 0.453 NA 23 175 7.88262e-20 1.53199e-19 0.00333 1 0 EPHB2 2048 broad.mit.edu 37 1 23111389 23111389 + Silent SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:23111389C>T uc009vqj.1 + 3 776 c.631C>T c.(631-633)CTG>TTG p.L211L EPHB2_uc001bge.2_Silent_p.L211L|EPHB2_uc001bgf.2_Silent_p.L211L|EPHB2_uc010odu.1_Silent_p.L211L NM_017449 NP_059145 P29323 EPHB2_HUMAN ephrin receptor EphB2 isoform 1 precursor 211 Extracellular (Potential).|Cys-rich. axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity ovary(3)|lung(1)|pancreas(1) 5 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) CCAGGAAACCCTGTCGGGGGC 0.612 NA Hereditary_Prostate_Cancer 6 29 0 0 0.001168 0 0 EPHA10 284656 broad.mit.edu 37 1 38230655 38230655 + Nonsense_Mutation SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:38230655C>T uc009vvi.2 - 1 170 c.84G>A c.(82-84)TGG>TGA p.W28* EPHA10_uc001cbw.3_Nonsense_Mutation_p.W28* NM_001099439 NP_001092909 Q5JZY3 EPHAA_HUMAN EPH receptor A10 isofom 3 28 extracellular region|integral to membrane|integral to plasma membrane ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity breast(4)|stomach(3)|lung(1) 8 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) TCCCAGGCCGCCAGGGTCCCA 0.657 NA 5 13 0 0 0.000602 0 0 INPP5B 3633 broad.mit.edu 37 1 38352595 38352595 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:38352595C>A uc001ccg.1 - 12 1190 c.1096G>T c.(1096-1098)GCC>TCC p.A366S INPP5B_uc009vvk.1_Missense_Mutation_p.A307S|INPP5B_uc001ccf.1_Missense_Mutation_p.A202S|INPP5B_uc010oij.1_RNA NM_005540 NP_005531 P32019 I5P2_HUMAN inositol polyphosphate-5-phosphatase, 75kDa 446 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|integral to membrane|microtubule cytoskeleton GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding urinary_tract(1) 1 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) ACAGTCTCGGCTTCCACTTCT 0.483 NA 7 40 8.12818e-05 0.000102047 0.001984 1 0 PPIE 10450 broad.mit.edu 37 1 40207081 40207081 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:40207081G>T uc001cds.1 + 3 217 c.174G>T c.(172-174)GAG>GAT p.E58D PPIE_uc001cdt.1_Translation_Start_Site|PPIE_uc010oiy.1_Translation_Start_Site|PPIE_uc001cdu.1_RNA|PPIE_uc001cdv.2_Missense_Mutation_p.E58D|PPIE_uc001cdw.2_Missense_Mutation_p.E58D|PPIE_uc001cdx.1_5'Flank NM_006112 NP_006103 Q9UNP9 PPIE_HUMAN peptidylprolyl isomerase E isoform 1 58 RRM. protein folding|regulation of transcription, DNA-dependent catalytic step 2 spliceosome cyclosporin A binding|nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|protein binding|RNA binding 0 all_cancers(7;1.63e-13)|all_lung(5;2.27e-16)|all_epithelial(6;1.35e-15)|Lung NSC(20;1.49e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;2.7e-17)|all cancers(16;5.5e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) AGTTGGCAGAGGTGAGAGTCT 0.388 NA 12 57 4.36969e-10 7.20947e-10 0.001855 1 0 DIO1 1733 broad.mit.edu 37 1 54360012 54360012 + Silent SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:54360012C>A uc010onx.1 + 1 152 c.129C>A c.(127-129)GCC>GCA p.A43A DIO1_uc010onw.1_Silent_p.A43A|DIO1_uc009vzl.2_Silent_p.A43A|DIO1_uc001cwb.2_Silent_p.A43A|DIO1_uc010ony.1_Silent_p.A43A|DIO1_uc001cwd.2_RNA|DIO1_uc001cwe.2_RNA|DIO1_uc001cwf.2_RNA|DIO1_uc001cwg.2_RNA NM_000792 NP_000783 P49895 IOD1_HUMAN deiodinase, iodothyronine, type I isoform a 43 hormone biosynthetic process|thyroid hormone generation endoplasmic reticulum membrane|integral to membrane|plasma membrane selenium binding|thyroxine 5'-deiodinase activity 0 ACATCCTGGCCATGGGCGAGA 0.522 NA 25 88 6.32553e-13 1.14225e-12 0.004656 1 0 USP1 7398 broad.mit.edu 37 1 62916107 62916107 + Missense_Mutation SNP A A T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:62916107A>T uc001daj.1 + 9 2141 c.1813A>T c.(1813-1815)AGT>TGT p.S605C USP1_uc001dak.1_Missense_Mutation_p.S605C|USP1_uc001dal.1_Missense_Mutation_p.S605C NM_001017415 NP_001017415 O94782 UBP1_HUMAN ubiquitin specific protease 1 605 DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process nucleoplasm cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(1) 1 all_neural(321;0.0281) BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535) TGACCTTAACAGTTTAGAACT 0.398 Ovarian(122;1846 2315 3982 19504) NA 9 37 0 0 0.004482 0 0 C1orf173 127254 broad.mit.edu 37 1 75065539 75065539 + Missense_Mutation SNP T T G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:75065539T>G uc001dgg.2 - 11 1785 c.1566A>C c.(1564-1566)CAA>CAC p.Q522H uc001dgh.2_Intron|C1orf173_uc001dgi.3_Missense_Mutation_p.Q316H NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 522 Glu-rich. ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 TTCCATTCATTTGAACATCAG 0.388 NA 20 118 0 0 0.008871 0 0 USP33 23032 broad.mit.edu 37 1 78180383 78180383 + Missense_Mutation SNP T T C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:78180383T>C uc001dht.2 - 20 2571 c.2224A>G c.(2224-2226)ATT>GTT p.I742V USP33_uc001dhs.2_Missense_Mutation_p.I463V|USP33_uc001dhu.2_Missense_Mutation_p.I711V|USP33_uc001dhv.2_Missense_Mutation_p.I547V|USP33_uc001dhw.2_Missense_Mutation_p.I734V NM_015017 NP_055832 Q8TEY7 UBP33_HUMAN ubiquitin specific protease 33 isoform 1 742 DUSP 1. axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm|VCB complex cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding lung(2)|ovary(1) 3 TGTCGAGAAATATAAAACTGA 0.373 Melanoma(152;72 1870 11110 26780 42647) NA 21 47 0 0 0.012319 0 0 CLCA2 9635 broad.mit.edu 37 1 86919061 86919061 + Missense_Mutation SNP A A T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:86919061A>T uc001dlr.3 + 13 2327 c.2165A>T c.(2164-2166)CAG>CTG p.Q722L NM_006536 NP_006527 Q9UQC9 CLCA2_HUMAN chloride channel accessory 2 precursor 722 Extracellular (Potential). cell adhesion basal plasma membrane|cell junction|extracellular region|integral to plasma membrane chloride channel activity ovary(1)|breast(1)|skin(1) 3 Lung NSC(277;0.238) all cancers(265;0.0233)|Epithelial(280;0.0452) GGTAATATTCAGATGAATGCT 0.413 Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642) NA 7 45 0 0 0.00308 0 0 RPAP2 79871 broad.mit.edu 37 1 92789427 92789427 + Missense_Mutation SNP G G A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:92789427G>A uc001dot.2 + 8 1059 c.950G>A c.(949-951)AGT>AAT p.S317N RPAP2_uc009wdh.2_RNA NM_024813 NP_079089 Q8IXW5 RPAP2_HUMAN RNA polymerase II associated protein 2 317 integral to membrane|nucleus metal ion binding|phosphoprotein phosphatase activity ovary(1) 1 all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222) all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115) AATTCTGAAAGTGAATACAGT 0.343 NA 15 45 0 0 0.00245 0 0 PTBP2 58155 broad.mit.edu 37 1 97243402 97243402 + Missense_Mutation SNP A A T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:97243402A>T uc001drq.2 + 7 854 c.608A>T c.(607-609)AAG>ATG p.K203M PTBP2_uc001drn.2_Missense_Mutation_p.K203M|PTBP2_uc001dro.2_Missense_Mutation_p.K203M|PTBP2_uc010otz.1_Missense_Mutation_p.K214M|PTBP2_uc001drp.2_RNA|PTBP2_uc009wdw.2_Missense_Mutation_p.K151M|PTBP2_uc001drr.2_Missense_Mutation_p.K203M|PTBP2_uc010oua.1_Missense_Mutation_p.K211M|PTBP2_uc001dru.2_RNA NM_021190 NP_067013 Q9UKA9 PTBP2_HUMAN polypyrimidine tract binding protein 2 203 RRM 2. nucleotide binding 0 all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171) all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202) ATATTTTCTAAGTTTGGTGCT 0.269 NA 5 39 0 0 0.001168 0 0 COL11A1 1301 broad.mit.edu 37 1 103354185 103354185 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:103354185C>A uc001dul.2 - 62 4874 c.4556G>T c.(4555-4557)GGA>GTA p.G1519V COL11A1_uc001duk.2_Missense_Mutation_p.G715V|COL11A1_uc001dum.2_Missense_Mutation_p.G1531V|COL11A1_uc001dun.2_Missense_Mutation_p.G1480V|COL11A1_uc009weh.2_Missense_Mutation_p.G1403V NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 1519 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) GCCAGCGGGTCCCTGTTAGAA 0.413 NA 11 20 0.000219431 0.000269587 0.00245 1 0 FAM40A 85369 broad.mit.edu 37 1 110581882 110581882 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:110581882G>T uc001dza.1 + 4 433 c.414G>T c.(412-414)AGG>AGT p.R138S FAM40A_uc001dyz.1_Missense_Mutation_p.R43S|FAM40A_uc009wfp.1_5'UTR NM_033088 NP_149079 Q5VSL9 FA40A_HUMAN hypothetical protein LOC85369 138 nucleus protein binding ovary(3)|large_intestine(1) 4 all_cancers(81;8.51e-05)|all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0154)|all cancers(265;0.0732)|Epithelial(280;0.0781)|Colorectal(144;0.115)|LUSC - Lung squamous cell carcinoma(189;0.137) TCACTGCCAGGGAGAAGAGAC 0.567 NA 5 26 5.9392e-07 8.56639e-07 0.001168 1 0 VANGL1 81839 broad.mit.edu 37 1 116226686 116226686 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:116226686G>T uc001efv.1 + 6 1339 c.1068G>T c.(1066-1068)AAG>AAT p.K356N VANGL1_uc009wgy.1_Missense_Mutation_p.K354N NM_138959 NP_620409 Q8TAA9 VANG1_HUMAN vang-like 1 356 Cytoplasmic (Potential). multicellular organismal development integral to membrane protein binding central_nervous_system(1) 1 Lung SC(450;0.211) all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05) Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12) GAGTAAAGAAGCGGAAAGCAA 0.413 NA 4 34 0.00909568 0.00988598 0.009096 1 0 GJA5 2702 broad.mit.edu 37 1 147230977 147230977 + Nonsense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:147230977C>A uc001eps.1 - 2 511 c.370G>T c.(370-372)GAG>TAG p.E124* GJA5_uc001ept.1_Nonsense_Mutation_p.E124* NM_181703 NP_859054 P36382 CXA5_HUMAN connexin 40 124 Cytoplasmic (Potential). angiogenesis|cell-cell junction assembly|muscle contraction integral to membrane ovary(1) 1 all_hematologic(923;0.0276) LUSC - Lung squamous cell carcinoma(543;0.202) ACCGGGTACTCGTAAGAGCCA 0.607 NA 12 60 0.000219431 0.000269587 0.00245 1 0 SELENBP1 8991 broad.mit.edu 37 1 151338815 151338815 + Missense_Mutation SNP T T A rs138557053 TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:151338815T>A uc001exx.2 - 7 826 c.779A>T c.(778-780)GAC>GTC p.D260V SELENBP1_uc010pcy.1_Missense_Mutation_p.D302V|SELENBP1_uc001exy.2_Missense_Mutation_p.D157V|SELENBP1_uc001exz.2_Missense_Mutation_p.D157V|SELENBP1_uc010pcz.1_Missense_Mutation_p.D198V|SELENBP1_uc009wms.2_Missense_Mutation_p.D96V|SELENBP1_uc009wmt.2_Missense_Mutation_p.D157V|SELENBP1_uc001eya.2_Missense_Mutation_p.D196V|SELENBP1_uc009wmu.2_Missense_Mutation_p.D157V NM_003944 NP_003935 Q13228 SBP1_HUMAN selenium binding protein 1 260 DAA -> SAT (in Ref. 1; AAB02395). protein transport cytosol|membrane|nucleolus protein binding|selenium binding 0 Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) TTGGGCAGCGTCTGGGTTGTG 0.562 NA 20 102 0 0 0.014323 0 0 TCHHL1 126637 broad.mit.edu 37 1 152057599 152057599 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:152057599G>T uc001ezo.1 - 3 2624 c.2559C>A c.(2557-2559)AGC>AGA p.S853R NM_001008536 NP_001008536 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 853 calcium ion binding ovary(1)|skin(1) 2 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) GTGATGCTTGGCTGTAGTTGA 0.498 NA 18 80 6.49762e-13 1.17025e-12 0.006122 1 0 FLG 2312 broad.mit.edu 37 1 152280768 152280768 + Silent SNP T T C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:152280768T>C uc001ezu.1 - 3 6630 c.6594A>G c.(6592-6594)CAA>CAG p.Q2198Q NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 2198 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) CATCTCCTGATTGTTCCTTGT 0.542 NA Ichthyosis 14 463 0 0 0.003163 0 0 FLG2 388698 broad.mit.edu 37 1 152326682 152326682 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:152326682G>T uc001ezw.3 - 3 3653 c.3580C>A c.(3580-3582)CAA>AAA p.Q1194K uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 1194 Ser-rich. calcium ion binding|structural molecule activity ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1) 17 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GATATATGTTGTCCAGAACTA 0.483 NA 19 83 8.28177e-16 1.56535e-15 0.007413 1 0 RPS27 6232 broad.mit.edu 37 1 153963616 153963616 + Missense_Mutation SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:153963616C>T uc001fdv.2 + 2 66 c.32C>T c.(31-33)TCT>TTT p.S11F NM_001030 NP_001021 P42677 RS27_HUMAN ribosomal protein S27 11 cell proliferation|endocrine pancreas development|mitotic prometaphase|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|nucleus DNA binding|structural constituent of ribosome|zinc ion binding 0 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) CTTCATCCCTCTCCAGAAGAG 0.498 NA 6 13 0 0 0.001168 0 0 NES 10763 broad.mit.edu 37 1 156640315 156640315 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:156640315C>A uc001fpq.2 - 4 3798 c.3665G>T c.(3664-3666)AGC>ATC p.S1222I NM_006617 NP_006608 P48681 NEST_HUMAN nestin 1222 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity ovary(6) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GTACGTTGGGCTGGGGGAGAC 0.647 NA 19 83 2.4624e-09 3.88562e-09 0.008871 1 0 FCRL1 115350 broad.mit.edu 37 1 157771743 157771743 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:157771743C>A uc001frg.2 - 5 961 c.848G>T c.(847-849)GGG>GTG p.G283V FCRL1_uc001frf.2_RNA|FCRL1_uc001frh.2_Missense_Mutation_p.G283V|FCRL1_uc001fri.2_Missense_Mutation_p.G283V|FCRL1_uc001frj.2_RNA NM_052938 NP_443170 Q96LA6 FCRL1_HUMAN Fc receptor-like 1 isoform 1 precursor 283 Ig-like C2-type 3.|Extracellular (Potential). integral to membrane|plasma membrane receptor activity skin(4)|ovary(3) 7 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) GCGCTGGGCCCCCAGGCCATT 0.572 GBM(54;482 1003 11223 30131 35730) NA 15 55 1.15088e-07 1.72506e-07 0.004007 1 0 OR6K3 391114 broad.mit.edu 37 1 158687441 158687441 + Silent SNP G G A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:158687441G>A uc010pip.1 - 1 513 c.513C>T c.(511-513)ATC>ATT p.I171I NM_001005327 NP_001005327 Q8NGY3 OR6K3_HUMAN olfactory receptor, family 6, subfamily K, 171 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|kidney(1)|central_nervous_system(1) 3 all_hematologic(112;0.0378) CGGGAAGCAGGATAAGGAAAC 0.522 NA 11 68 0 0 0.010729 0 0 OR6K3 391114 broad.mit.edu 37 1 158687910 158687910 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:158687910C>A uc010pip.1 - 1 44 c.44G>T c.(43-45)AGA>ATA p.R15I NM_001005327 NP_001005327 Q8NGY3 OR6K3_HUMAN olfactory receptor, family 6, subfamily K, 15 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|kidney(1)|central_nervous_system(1) 3 all_hematologic(112;0.0378) CTCCATATTTCTAGTAGAGCT 0.398 NA 6 18 2.0095e-06 2.82727e-06 0.001984 1 0 ITLN1 55600 broad.mit.edu 37 1 160850418 160850418 + Silent SNP G G A rs142057123 TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:160850418G>A uc001fxc.2 - 6 761 c.645C>T c.(643-645)GAC>GAT p.D215D NM_017625 NP_060095 Q8WWA0 ITLN1_HUMAN intelectin precursor 215 Fibrinogen C-terminal. positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction anchored to membrane|brush border membrane|extracellular region|membrane raft receptor binding|sugar binding ovary(2)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1) 7 all_cancers(52;2.99e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) TTTTCTGGGCGTCGCCAAAAT 0.438 NA 11 131 0 0 0.013537 0 0 FCER1G 2207 broad.mit.edu 37 1 161188716 161188716 + Nonsense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:161188716G>T uc001fyz.1 + 5 269 c.244G>T c.(244-246)GAG>TAG p.E82* FCER1G_uc001fza.1_Nonsense_Mutation_p.E83* NM_004106 NP_004097 P30273 FCERG_HUMAN Fc fragment of IgE, high affinity I, receptor 82 ITAM.|Cytoplasmic (Potential). platelet activation integral to plasma membrane 0 all_cancers(52;1.35e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) Benzylpenicilloyl Polylysine(DB00895) TCTGAAGCATGAGAAACCACC 0.532 NA 7 43 0.00307968 0.00347347 0.00308 1 0 ILDR2 387597 broad.mit.edu 37 1 166904624 166904624 + Missense_Mutation SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:166904624C>T uc001gdx.1 - 6 850 c.794G>A c.(793-795)GGA>GAA p.G265E NM_199351 NP_955383 Q71H61 ILDR2_HUMAN immunoglobulin-like domain containing receptor 265 Cytoplasmic (Potential). integral to membrane ovary(1) 1 GGGGGCTCCTCCCAAAGGGAC 0.597 NA 9 56 0 0 0.006214 0 0 DUSP27 92235 broad.mit.edu 37 1 167088547 167088547 + Missense_Mutation SNP G G C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:167088547G>C uc001geb.1 + 4 499 c.499G>C c.(499-501)GCG>CCG p.A167P NM_001080426 NP_001073895 Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 167 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity ovary(3) 3 TCTGAATGCTGCGCATGGCAC 0.562 NA 8 27 0 0 0.008291 0 0 DUSP27 92235 broad.mit.edu 37 1 167095924 167095924 + Missense_Mutation SNP A A T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:167095924A>T uc001geb.1 + 5 1556 c.1556A>T c.(1555-1557)GAT>GTT p.D519V NM_001080426 NP_001073895 Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 519 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity ovary(3) 3 CGGGAGGATGATGAGGACAGC 0.567 NA 14 36 0 0 0.001855 0 0 PAPPA2 60676 broad.mit.edu 37 1 176740128 176740128 + Silent SNP T T A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:176740128T>A uc001gkz.2 + 17 5691 c.4527T>A c.(4525-4527)CTT>CTA p.L1509L PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 1509 Sushi 2. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 TGACATGTCTTGAAGATGGTC 0.483 NA 21 57 0 0 0.00333 0 0 ASTN1 460 broad.mit.edu 37 1 176913034 176913034 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:176913034G>T uc001glc.2 - 14 2582 c.2370C>A c.(2368-2370)TTC>TTA p.F790L ASTN1_uc001glb.1_Missense_Mutation_p.F790L|ASTN1_uc001gld.1_Missense_Mutation_p.F790L|ASTN1_uc009wwx.1_Missense_Mutation_p.F790L NM_004319 NP_004310 O14525 ASTN1_HUMAN astrotactin isoform 1 798 cell migration|neuron cell-cell adhesion integral to membrane ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1) 15 CACCAGTCAGGAAGTCAGGGT 0.498 NA 7 24 0.00198382 0.00225226 0.001984 1 0 ASTN1 460 broad.mit.edu 37 1 176993800 176993800 + Missense_Mutation SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:176993800C>T uc001glc.2 - 6 1401 c.1189G>A c.(1189-1191)GGC>AGC p.G397S ASTN1_uc001glb.1_Missense_Mutation_p.G397S|ASTN1_uc001gld.1_Missense_Mutation_p.G397S|ASTN1_uc009wwx.1_Missense_Mutation_p.G397S|ASTN1_uc001gle.3_RNA NM_004319 NP_004310 O14525 ASTN1_HUMAN astrotactin isoform 1 397 Helical; (Potential). cell migration|neuron cell-cell adhesion integral to membrane ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1) 15 CACACGAGGCCAATCACACAG 0.522 NA 6 28 0 0 0.001168 0 0 RASAL2 9462 broad.mit.edu 37 1 178427213 178427213 + Missense_Mutation SNP T T C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:178427213T>C uc001glr.2 + 12 2488 c.2363T>C c.(2362-2364)CTC>CCC p.L788P RASAL2_uc001glq.2_Missense_Mutation_p.L929P|RASAL2_uc009wxc.2_Missense_Mutation_p.L302P NM_004841 NP_004832 Q9UJF2 NGAP_HUMAN RAS protein activator like 2 isoform 1 788 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity ovary(2)|breast(2)|large_intestine(1) 5 GTCTATCACCTCAATAACCCA 0.522 NA 3 69 0 0 0.004672 0 0 CACNA1E 777 broad.mit.edu 37 1 181620521 181620521 + Silent SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:181620521C>T uc001gow.2 + 7 1164 c.999C>T c.(997-999)CCC>CCT p.P333P CACNA1E_uc009wxr.2_Silent_p.P240P|CACNA1E_uc009wxs.2_Silent_p.P240P NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 333 I.|Helical; Name=S6 of repeat I. energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 ACTTCATCCCCCTCATCATCA 0.433 NA 10 66 0 0 0.008291 0 0 CFH 3075 broad.mit.edu 37 1 196695642 196695642 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:196695642G>T uc001gtj.3 + 13 2156 c.1916G>T c.(1915-1917)GGG>GTG p.G639V NM_000186 NP_000177 P08603 CFAH_HUMAN complement factor H isoform a precursor 639 Sushi 11. complement activation, alternative pathway extracellular space skin(4)|ovary(1)|breast(1) 6 CTCCTCAATGGGAATGTTAAG 0.318 NA 5 13 2.7689e-08 4.2809e-08 0.001984 1 0 CAMSAP1L1 23271 broad.mit.edu 37 1 200818117 200818117 + Silent SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:200818117G>T uc001gvl.2 + 12 2523 c.2253G>T c.(2251-2253)CGG>CGT p.R751R CAMSAP1L1_uc001gvk.2_Silent_p.R740R|CAMSAP1L1_uc001gvm.2_Silent_p.R724R NM_203459 NP_982284 Q08AD1 CAMP2_HUMAN calmodulin regulated spectrin-associated protein 751 cytoplasm|microtubule protein binding ovary(2)|large_intestine(1)|pancreas(1) 4 CACAGGGACGGGACACTACCC 0.458 NA 7 40 0.000673444 0.000786638 0.008291 1 0 CACNA1S 779 broad.mit.edu 37 1 201027603 201027603 + Missense_Mutation SNP G G A rs144935943 TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:201027603G>A uc001gvv.2 - 28 3769 c.3542C>T c.(3541-3543)CCC>CTC p.P1181L NM_000069 NP_000060 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, 1181 IV.|Helical; Name=S3 of repeat IV; (Potential). axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity ovary(3)|central_nervous_system(1)|skin(1) 5 Magnesium Sulfate(DB00653)|Verapamil(DB00661) CACATTCCAGGGGTCTCCAAA 0.547 NA 6 22 0 0 0.001984 0 0 KCTD3 51133 broad.mit.edu 37 1 215775296 215775296 + Missense_Mutation SNP G G C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:215775296G>C uc001hks.2 + 11 1315 c.1021G>C c.(1021-1023)GAT>CAT p.D341H KCTD3_uc001hkt.2_Missense_Mutation_p.D341H|KCTD3_uc010pub.1_Missense_Mutation_p.D239H|KCTD3_uc009xdn.2_Missense_Mutation_p.D93H NM_016121 NP_057205 Q9Y597 KCTD3_HUMAN potassium channel tetramerisation domain 341 WD 3. voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity ovary(3) 3 all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13) ATATTACATAGGTAAGTGTTC 0.313 NA 8 18 0 0 0.00308 0 0 USH2A 7399 broad.mit.edu 37 1 216420207 216420207 + Silent SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:216420207G>T uc001hku.1 - 13 2916 c.2529C>A c.(2527-2529)CTC>CTA p.L843L USH2A_uc001hkv.2_Silent_p.L843L NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 843 Extracellular (Potential).|Laminin EGF-like 6. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) AAGGCAGACAGAGGAAAGAAT 0.443 NA HNSCC(13;0.011) 25 96 6.32553e-13 1.14225e-12 0.004656 1 0 BPNT1 10380 broad.mit.edu 37 1 220232313 220232314 + Missense_Mutation DNP CC CC AA TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:220232313_220232314CC>AA uc001hma.2 - 9 971_972 c.799_800GG>TT c.(799-801)GGG>TTG p.G267L BPNT1_uc010pug.1_Missense_Mutation_p.G212L|BPNT1_uc010puh.1_Missense_Mutation_p.G231L|BPNT1_uc001hmb.3_Missense_Mutation_p.G282L NM_006085 NP_006076 O95861 BPNT1_HUMAN 3'(2'), 5'-bisphosphate nucleotidase 1 267 3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process cytosol 3'(2'),5'-bisphosphate nucleotidase activity ovary(1) 1 GBM - Glioblastoma multiforme(131;0.0558) AAGAACATTCCCATGGATATCG 0.391 NA 6 72 0 0 0.004672 0 0 MOSC1 64757 broad.mit.edu 37 1 220986690 220986690 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:220986690G>T uc001hms.2 + 7 1192 c.944G>T c.(943-945)GGG>GTG p.G315V MOSC1_uc001hmt.2_Missense_Mutation_p.G332V NM_022746 NP_073583 Q5VT66 MOSC1_HUMAN MOCO sulphurase C-terminal domain containing 1 315 MOSC. molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding 0 GBM - Glioblastoma multiforme(131;0.0358) CCACTCTTTGGGCAGTATTTT 0.473 NA 37 88 1.60099e-16 3.04276e-16 0.004878 1 0 CDC42BPA 8476 broad.mit.edu 37 1 227300084 227300084 + Missense_Mutation SNP T T C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:227300084T>C uc001hqr.2 - 14 2873 c.1930A>G c.(1930-1932)AAA>GAA p.K644E CDC42BPA_uc001hqs.2_Missense_Mutation_p.K563E|CDC42BPA_uc009xes.2_Missense_Mutation_p.K644E|CDC42BPA_uc010pvs.1_Missense_Mutation_p.K644E NM_003607 NP_003598 Q5VT25 MRCKA_HUMAN CDC42-binding protein kinase alpha isoform B 644 Potential. actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1) 11 all_cancers(173;0.156)|Prostate(94;0.0792) TTCCTGTCTTTAGATGCTTCA 0.363 NA 20 77 0 0 0.00333 0 0 OBSCN 84033 broad.mit.edu 37 1 228431091 228431091 + Missense_Mutation SNP A A G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:228431091A>G uc009xez.1 + 10 3181 c.3137A>G c.(3136-3138)AAG>AGG p.K1046R OBSCN_uc001hsn.2_Missense_Mutation_p.K1046R NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 1046 Ig-like 10. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) CAGGCAGGCAAGACAGATGCC 0.567 NA 6 30 0 0 0.001168 0 0 NID1 4811 broad.mit.edu 37 1 236201536 236201536 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:236201536C>A uc001hxo.2 - 5 1255 c.1153G>T c.(1153-1155)GAT>TAT p.D385Y NID1_uc009xgd.2_Missense_Mutation_p.D385Y NM_002508 NP_002499 P14543 NID1_HUMAN nidogen 1 precursor 385 cell-matrix adhesion basement membrane calcium ion binding large_intestine(1)|pancreas(1) 2 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) TGGCGGGAATCCGTGTTATAG 0.552 NA 15 71 3.52763e-06 4.88332e-06 0.00499 1 0 ACTN2 88 broad.mit.edu 37 1 236924451 236924451 + Missense_Mutation SNP T T C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:236924451T>C uc001hyf.2 + 20 2708 c.2504T>C c.(2503-2505)TTC>TCC p.F835S ACTN2_uc001hyg.2_Missense_Mutation_p.F627S|ACTN2_uc009xgi.1_Missense_Mutation_p.F835S|ACTN2_uc010pxu.1_Missense_Mutation_p.F524S|ACTN2_uc001hyh.2_Missense_Mutation_p.F523S NM_001103 NP_001094 P35609 ACTN2_HUMAN actinin, alpha 2 835 focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding ovary(4)|skin(1) 5 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) ATCGCCTCCTTCCGGATCCTG 0.507 NA 9 47 0 0 0.008291 0 0 RYR2 6262 broad.mit.edu 37 1 237777909 237777909 + Silent SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:237777909C>A uc001hyl.1 + 37 5601 c.5481C>A c.(5479-5481)ACC>ACA p.T1827T NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 1827 Cytoplasmic (By similarity).|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TTTTCTATACCCTGCTGATCA 0.493 NA 19 104 2.4624e-09 3.88562e-09 0.008871 1 0 RYR2 6262 broad.mit.edu 37 1 237995900 237995900 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:237995900C>A uc001hyl.1 + 105 14977 c.14857C>A c.(14857-14859)CCA>ACA p.P4953T RYR2_uc010pyb.1_3'UTR NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 4953 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GGAATTTTTCCCAGCAGGGGA 0.418 NA 7 27 0.00198382 0.00225226 0.001984 1 0 OR2W5 441932 broad.mit.edu 37 1 247655350 247655350 + Silent SNP G G C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:247655350G>C uc001icz.1 + 1 921 c.921G>C c.(919-921)GTG>GTC p.V307V NM_001004698 NP_001004698 A6NFC9 OR2W5_HUMAN olfactory receptor, family 2, subfamily W, 307 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1)|skin(1) 3 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.222) OV - Ovarian serous cystadenocarcinoma(106;0.0188) CTTCTGGGGTGGGAGAAAGGG 0.502 NA 10 57 0 0 0.006214 0 0 OR2L2 26246 broad.mit.edu 37 1 248202461 248202461 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:248202461G>T uc001idw.2 + 1 988 c.892G>T c.(892-894)GGG>TGG p.G298W OR2L13_uc001ids.2_Intron NM_001004686 NP_001004686 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, 298 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) GGAGGTGATGGGGGCCCTGAC 0.458 NA 12 69 5.16669e-11 8.86454e-11 0.010729 1 0 OR2T12 127064 broad.mit.edu 37 1 248458764 248458764 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:248458764G>T uc010pzj.1 - 1 117 c.117C>A c.(115-117)AGC>AGA p.S39R NM_001004692 NP_001004692 Q8NG77 O2T12_HUMAN olfactory receptor, family 2, subfamily T, 39 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0201) TGAGGGCATTGCTAAACAGGG 0.512 NA 17 73 2.35188e-11 4.0861e-11 0.006122 1 0 OR2T4 127074 broad.mit.edu 37 1 248525220 248525220 + Missense_Mutation SNP T T G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:248525220T>G uc001ieh.1 + 1 338 c.338T>G c.(337-339)ATG>AGG p.M113R NM_001004696 NP_001004696 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, 113 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(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) GTGCCCAAGATGCTCCTGGAC 0.488 NA 6 234 0 0 0.00308 0 0 PFKFB3 5209 broad.mit.edu 37 10 6264857 6264857 + Missense_Mutation SNP A A C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr10:6264857A>C uc001ije.2 + 11 1507 c.1123A>C c.(1123-1125)ATG>CTG p.M375L PFKFB3_uc001ijd.2_Missense_Mutation_p.M355L|PFKFB3_uc009xii.2_Intron|PFKFB3_uc010qaw.1_Missense_Mutation_p.M389L|PFKFB3_uc001ijf.2_Missense_Mutation_p.M375L|PFKFB3_uc001ijg.2_5'Flank|PFKFB3_uc009xij.2_5'Flank|PFKFB3_uc009xik.2_5'Flank|PFKFB3_uc009xil.2_5'Flank NM_004566 NP_004557 Q16875 F263_HUMAN 6-phosphofructo-2-kinase/fructose-2, 375 Fructose-2,6-bisphosphatase. fructose 2,6-bisphosphate metabolic process|glycolysis cytosol 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding ovary(2)|central_nervous_system(1) 3 GCCAGTGATCATGGAGCTGGA 0.652 NA 3 18 0 0 0.009096 0 0 PTF1A 256297 broad.mit.edu 37 10 23482733 23482733 + Silent SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr10:23482733C>A uc001irp.2 + 2 885 c.885C>A c.(883-885)ATC>ATA p.I295I NM_178161 NP_835455 Q7RTS3 PTF1A_HUMAN pancreas specific transcription factor, 1a 295 endocrine pancreas development|exocrine pancreas development|regulation of transcription, DNA-dependent|tissue development|transcription, DNA-dependent cytoplasm|transcription factor complex pancreas(1)|skin(1) 2 AAAATATTATCCGAACAGCCA 0.488 NA 24 130 1.66031e-10 2.78607e-10 0.003954 1 0 SVIL 6840 broad.mit.edu 37 10 29840143 29840143 + Missense_Mutation SNP T T A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr10:29840143T>A uc001iut.1 - 6 963 c.210A>T c.(208-210)CAA>CAT p.Q70H SVIL_uc001iuu.1_Missense_Mutation_p.Q70H|SVIL_uc009xld.1_Missense_Mutation_p.Q70H NM_021738 NP_068506 O95425 SVIL_HUMAN supervillin isoform 2 70 Interaction with MYLK (By similarity). cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding ovary(5)|upper_aerodigestive_tract(1) 6 Breast(68;0.103) TGGATCGAGTTTGCTTTTCTA 0.473 NA 10 42 0 0 0.008291 0 0 Unknown 0 broad.mit.edu 37 10 49218363 49218363 + Silent SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr10:49218363G>T uc001jgd.2 - 8 1935 c.1776C>A c.(1774-1776)GCC>GCA p.A592A uc001jge.1_5'Flank RecName: Full=Arf-GAP, GTPase, ANK repeat and PH domain-containing protein 11; AltName: Full=Centaurin-gamma-like protein KIAA1975; NA CCTTGCGGCAGGCCAGATGGA 0.652 NA 10 179 2.27111e-07 3.35306e-07 0.013537 1 0 OGDHL 55753 broad.mit.edu 37 10 50946118 50946118 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr10:50946118C>A uc001jie.2 - 19 2534 c.2392G>T c.(2392-2394)GCA>TCA p.A798S OGDHL_uc009xog.2_Missense_Mutation_p.A825S|OGDHL_uc010qgt.1_Missense_Mutation_p.A741S|OGDHL_uc010qgu.1_Missense_Mutation_p.A589S NM_018245 NP_060715 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like isoform a 798 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding pancreas(1) 1 TTGGTGAATGCCTGTGGGGAC 0.622 NA 10 79 0.000442599 0.000527744 0.006214 1 0 PCDH15 65217 broad.mit.edu 37 10 55581994 55581994 + Missense_Mutation SNP G G A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr10:55581994G>A uc001jju.1 - 33 5887 c.5492C>T c.(5491-5493)CCT>CTT p.P1831L 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.P1828L|PCDH15_uc010qhw.1_Missense_Mutation_p.P1791L|PCDH15_uc010qhx.1_Missense_Mutation_p.P1762L|PCDH15_uc010qhy.1_Missense_Mutation_p.P1838L|PCDH15_uc010qhz.1_Missense_Mutation_p.P1833L|PCDH15_uc010qia.1_Missense_Mutation_p.P1811L|PCDH15_uc010qib.1_Missense_Mutation_p.P1808L NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 1831 Poly-Pro.|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) TGAAGCTgaaggaggtggagg 0.289 NA HNSCC(58;0.16) 4 41 0 0 0.009096 0 0 RGR 5995 broad.mit.edu 37 10 86004867 86004867 + Silent SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr10:86004867G>T uc001kdc.1 + 1 59 c.21G>T c.(19-21)CTG>CTT p.L7L RGR_uc001kdb.1_Silent_p.L7L|RGR_uc001kdd.1_Silent_p.L7L|RGR_uc001kde.1_Silent_p.L7L NM_001012720 NP_001012738 P47804 RGR_HUMAN retinal G-protein coupled receptor isoform 2 7 Extracellular (Potential). phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity|protein binding ovary(1) 1 CCAGTGCCCTGCCCACTGGCT 0.657 NSCLC(15;204 545 5889 6385 32445) NA 5 33 1.6384e-10 2.76279e-10 0.001984 1 0 WAPAL 23063 broad.mit.edu 37 10 88203071 88203071 + Nonsense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr10:88203071G>T uc001kdo.2 - 17 3814 c.3372C>A c.(3370-3372)TAC>TAA p.Y1124* WAPAL_uc009xsv.2_Nonsense_Mutation_p.Y383*|WAPAL_uc001kdn.2_Nonsense_Mutation_p.Y1161*|WAPAL_uc009xsw.2_Nonsense_Mutation_p.Y1118* NM_015045 NP_055860 Q7Z5K2 WAPL_HUMAN wings apart-like homolog 1124 WAPL. 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 GTAGTGCTGTGTAGGAGGCCA 0.403 NA 5 28 5.9392e-07 8.56639e-07 0.001168 1 0 SEC31B 25956 broad.mit.edu 37 10 102256062 102256062 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr10:102256062C>A uc001krc.1 - 18 2365 c.2263G>T c.(2263-2265)GGC>TGC p.G755C SEC31B_uc010qpo.1_Missense_Mutation_p.G754C|SEC31B_uc001krd.1_Missense_Mutation_p.G292C|SEC31B_uc001krf.1_Missense_Mutation_p.G292C|SEC31B_uc001kre.1_Missense_Mutation_p.G292C|SEC31B_uc001krg.1_Missense_Mutation_p.G324C NM_015490 NP_056305 Q9NQW1 SC31B_HUMAN SEC31 homolog B 755 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane ovary(1) 1 Colorectal(252;0.117) Epithelial(162;2.36e-10)|all cancers(201;2.09e-08) GCCAGGCTGCCCTGGGCTGCC 0.542 NA 5 45 1.23904e-05 1.67149e-05 0.000602 1 0 PAX2 5076 broad.mit.edu 37 10 102539287 102539287 + Missense_Mutation SNP A A T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr10:102539287A>T uc001krk.3 + 4 993 c.443A>T c.(442-444)CAC>CTC p.H148L PAX2_uc001krl.3_Missense_Mutation_p.H148L|PAX2_uc001krm.3_Missense_Mutation_p.H148L|PAX2_uc001kro.3_Missense_Mutation_p.H148L|PAX2_uc001krn.3_Missense_Mutation_p.H148L|PAX2_uc010qps.1_Missense_Mutation_p.H147L|PAX2_uc001krp.1_Missense_Mutation_p.H152L NM_003990 NP_003981 Q02962 PAX2_HUMAN paired box protein 2 isoform e 148 anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception centriolar satellite|nucleus|protein complex|protein-DNA complex core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity 0 Colorectal(252;0.234) Epithelial(162;1.32e-08)|all cancers(201;7.32e-07) CAGCCTTTCCACCCAACGCCG 0.582 NA 5 7 0 0 0.001168 0 0 PAX2 5076 broad.mit.edu 37 10 102584444 102584444 + Missense_Mutation SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr10:102584444C>T uc001krk.3 + 9 1578 c.1028C>T c.(1027-1029)CCT>CTT p.P343L PAX2_uc001krl.3_Missense_Mutation_p.P320L|PAX2_uc001krm.3_Missense_Mutation_p.P343L|PAX2_uc001kro.3_Missense_Mutation_p.P320L|PAX2_uc001krn.3_Missense_Mutation_p.P320L|PAX2_uc010qps.1_Missense_Mutation_p.P319L|PAX2_uc001krp.1_Missense_Mutation_p.P316L NM_003990 NP_003981 Q02962 PAX2_HUMAN paired box protein 2 isoform e 343 anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception centriolar satellite|nucleus|protein complex|protein-DNA complex core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity 0 Colorectal(252;0.234) Epithelial(162;1.32e-08)|all cancers(201;7.32e-07) GGTTACCCCCCTCACGTGCCC 0.612 NA 18 64 0 0 0.008871 0 0 PPRC1 23082 broad.mit.edu 37 10 103906707 103906707 + Nonsense_Mutation SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr10:103906707C>T uc001kum.2 + 9 3997 c.3958C>T c.(3958-3960)CGA>TGA p.R1320* PPRC1_uc001kun.2_Nonsense_Mutation_p.R1200*|PPRC1_uc010qqj.1_Intron|PPRC1_uc009xxa.2_Intron NM_015062 NP_055877 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor 1320 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding ovary(1)|central_nervous_system(1)|skin(1) 3 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) GGTGGGCTCCCGATGGAATGT 0.602 NA 5 30 0 0 0.001168 0 0 CCDC147 159686 broad.mit.edu 37 10 106128258 106128258 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr10:106128258G>T uc001kyh.2 + 6 1004 c.870G>T c.(868-870)CAG>CAT p.Q290H NM_001008723 NP_001008723 Q5T655 CC147_HUMAN coiled-coil domain containing 147 290 Potential. ovary(2)|central_nervous_system(2)|skin(1) 5 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189) AGAATGAACAGCACAGTTTGG 0.438 NA 7 24 1.26484e-09 2.04756e-09 0.00308 1 0 CPXM2 119587 broad.mit.edu 37 10 125639736 125639736 + Missense_Mutation SNP C C G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr10:125639736C>G uc001lhk.1 - 2 719 c.394G>C c.(394-396)GTC>CTC p.V132L CPXM2_uc001lhj.2_RNA NM_198148 NP_937791 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 132 cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding ovary(2) 2 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) CTCTCTCTGACATCTTCACGG 0.557 NA 18 72 0 0 0.007413 0 0 SYCE1 93426 broad.mit.edu 37 10 135368920 135368920 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr10:135368920G>T uc001lno.2 - 12 958 c.853C>A c.(853-855)CAT>AAT p.H285N CYP2E1_uc001lnl.1_3'UTR|SYCE1_uc001lnm.2_Missense_Mutation_p.H157N|SYCE1_uc009ybn.2_Missense_Mutation_p.H285N|SYCE1_uc001lnn.2_Missense_Mutation_p.H249N NM_001143764 NP_001137236 Q8N0S2 SYCE1_HUMAN synaptonemal complex central element protein 1 285 Gln-rich.|Potential. cell division central element ovary(1) 1 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) TGCATTCCATGCTTTTCCAGC 0.393 NA 15 48 1.5739e-10 2.6671e-10 0.004007 1 0 LOC653544 653544 broad.mit.edu 37 10 135491024 135491024 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr10:135491024G>T uc010qvi.1 + 1 746 c.635G>T c.(634-636)GGA>GTA p.G212V NM_001127389 NP_001120861 F5GZ66 F5GZ66_HUMAN double homeobox, 4-like 212 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 AGGCACCCGGGACAGGGTGGC 0.721 NA 7 127 0.000157383 0.000195099 0.00308 1 0 IFITM2 10581 broad.mit.edu 37 11 308242 308242 + Missense_Mutation SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:308242C>T uc001lox.3 + 1 136 c.50C>T c.(49-51)CCC>CTC p.P17L NM_006435 NP_006426 Q01629 IFM2_HUMAN interferon induced transmembrane protein 2 17 Extracellular (Potential). response to virus|type I interferon-mediated signaling pathway integral to membrane|plasma membrane protein binding 0 all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;5.73e-28)|Epithelial(43;3.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.14e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0328)|LUSC - Lung squamous cell carcinoma(625;0.122) GGCCAGCCTCCCAACTACGAG 0.602 NA 12 107 0 0 0.010729 0 0 MUC6 4588 broad.mit.edu 37 11 1017315 1017315 + Missense_Mutation SNP G G C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:1017315G>C uc001lsw.2 - 31 5537 c.5486C>G c.(5485-5487)CCA>CGA p.P1829R NM_005961 NP_005952 Q6W4X9 MUC6_HUMAN mucin 6, gastric 1829 Thr-rich.|2.|Approximate repeats. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent ovary(1) 1 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) AGGGTGTGATGGGGTTGGATA 0.552 NA 47 660 0 0 0.01441 0 0 MUC5B 727897 broad.mit.edu 37 11 1268677 1268677 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:1268677C>A uc009ycr.1 + 50 12277 c.12151C>A c.(12151-12153)CCT>ACT p.P4051T MUC5B_uc001ltb.2_Missense_Mutation_p.P3526T NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 3523 7 X Cys-rich subdomain repeats.|Thr-rich. Missing (in Ref. 6; AAB61398). cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CGAGTCACCCCCTTCTCCAGG 0.677 NA 15 107 3.52763e-06 4.88332e-06 0.00499 1 0 MUC5B 727897 broad.mit.edu 37 11 1271630 1271630 + Missense_Mutation SNP T T A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:1271630T>A uc009ycr.1 + 51 15065 c.14939T>A c.(14938-14940)CTT>CAT p.L4980H MUC5B_uc001ltb.2_Missense_Mutation_p.L4510H NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 4507 23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GCAACTGCCCTTCCAGCACTG 0.627 NA 23 168 0 0 0.012319 0 0 DUSP8 1850 broad.mit.edu 37 11 1580211 1580211 + Missense_Mutation SNP G G A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:1580211G>A uc001lts.2 - 4 573 c.445C>T c.(445-447)CTC>TTC p.L149F NM_004420 NP_004411 Q13202 DUS8_HUMAN dual specificity phosphatase 8 149 inactivation of MAPK activity cytoplasm|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity 0 all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825) GGCTGGGAGAGGCTCATGGGT 0.662 NA 4 24 0 0 0.009096 0 0 OR51S1 119692 broad.mit.edu 37 11 4870337 4870337 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:4870337C>A uc010qyo.1 - 1 102 c.102G>T c.(100-102)TGG>TGT p.W34C NM_001004758 NP_001004758 Q8NGJ8 O51S1_HUMAN olfactory receptor, family 51, subfamily S, 34 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|upper_aerodigestive_tract(1)|ovary(1) 4 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) GCAATGTCCACCAGGAGGGTG 0.577 NA 22 54 2.37509e-13 4.33438e-13 0.010504 1 0 OR51T1 401665 broad.mit.edu 37 11 4903521 4903521 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:4903521C>A uc010qyp.1 + 1 473 c.473C>A c.(472-474)CCA>CAA p.P158Q NM_001004759 NP_001004759 Q8NGJ9 O51T1_HUMAN olfactory receptor, family 51, subfamily T, 131 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|large_intestine(1) 3 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) ATCTGTAACCCACTGAACTAT 0.498 NA 26 48 5.49717e-05 7.12251e-05 0.00333 1 0 HBB 3043 broad.mit.edu 37 11 5246840 5246840 + Missense_Mutation SNP G G T rs36020563 byFrequency TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:5246840G>T uc001mae.1 - 3 482 c.432C>A c.(430-432)CAC>CAA p.H144Q NM_000518 NP_000509 P68871 HBB_HUMAN beta globin 144 2,3-bisphosphoglycerate. H -> R (in Abruzzo; O(2) affinity up).|H -> P (in Syracuse; O(2) affinity up).|H -> Q (in Little Rock; O(2) affinity up).|H -> D (in Rancho Mirage). blood coagulation|hydrogen peroxide catabolic process|nitric oxide transport|positive regulation of cell death|positive regulation of nitric oxide biosynthetic process|protein heterooligomerization|regulation of blood pressure|regulation of blood vessel size haptoglobin-hemoglobin complex|hemoglobin complex heme binding|hemoglobin binding|oxygen binding|oxygen transporter activity central_nervous_system(1) 1 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) Iron Dextran(DB00893) AGTGATACTTGTGGGCCAGGG 0.488 NA Sickle_Cell_Trait 14 74 0.000308642 0.000372536 0.003163 1 0 OR56A3 390083 broad.mit.edu 37 11 5969347 5969347 + Silent SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:5969347C>A uc010qzt.1 + 1 771 c.771C>A c.(769-771)ACC>ACA p.T257T NM_001003443 NP_001003443 Q8NH54 O56A3_HUMAN olfactory receptor, family 56, subfamily A, 257 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCTTCAGCACCATCCTTCTGG 0.527 NA 16 104 0.00074312 0.000865087 0.006122 1 0 RRP8 23378 broad.mit.edu 37 11 6622385 6622385 + Missense_Mutation SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:6622385C>T uc001med.2 - 3 990 c.911G>A c.(910-912)CGC>CAC p.R304H ILK_uc001mee.2_5'Flank|ILK_uc001mef.2_5'Flank|ILK_uc010rap.1_5'Flank|ILK_uc010raq.1_5'Flank|ILK_uc001meg.2_5'Flank|ILK_uc001meh.2_5'Flank NM_015324 NP_056139 O43159 RRP8_HUMAN ribosomal RNA processing 8, methyltransferase, 304 chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent chromatin silencing complex|nucleolus|rDNA heterochromatin methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity 0 TCACCGCTGGCGAAGATCCCT 0.577 NA 3 24 0 0 0.009096 0 0 DCHS1 8642 broad.mit.edu 37 11 6653038 6653038 + Nonsense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:6653038C>A uc001mem.1 - 7 3894 c.3484G>T c.(3484-3486)GAA>TAA p.E1162* NM_003737 NP_003728 Q96JQ0 PCD16_HUMAN dachsous 1 precursor 1162 Cadherin 11.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|large_intestine(1)|pancreas(1) 5 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GTGGTCACTTCTCCTGGGAGT 0.592 NA 7 12 0.000157383 0.000195099 0.00308 1 0 OR10A2 341276 broad.mit.edu 37 11 6891597 6891597 + Silent SNP C C G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:6891597C>G uc001meu.1 + 1 612 c.612C>G c.(610-612)TCC>TCG p.S204S NM_001004460 NP_001004460 Q9H208 O10A2_HUMAN olfactory receptor, family 10, subfamily A, 204 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1) 1 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) TCTTGTGTTCCTATACTCACA 0.483 NA 24 155 0 0 0.003954 0 0 NLRP14 338323 broad.mit.edu 37 11 7079531 7079531 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:7079531C>A uc001mfb.1 + 8 2806 c.2483C>A c.(2482-2484)ACA>AAA p.T828K NM_176822 NP_789792 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 828 LRR 4. cell differentiation|multicellular organismal development|spermatogenesis ATP binding ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1) 8 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) TGTGGTCTCACAGAGGCTGGC 0.453 NA 17 34 1.01871e-10 1.73484e-10 0.008871 1 0 C11orf16 56673 broad.mit.edu 37 11 8951044 8951044 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:8951044G>T uc001mhb.3 - 3 328 c.204C>A c.(202-204)GAC>GAA p.D68E C11orf16_uc001mhc.3_Missense_Mutation_p.D68E NM_020643 NP_065694 Q9NQ32 CK016_HUMAN hypothetical protein LOC56673 68 upper_aerodigestive_tract(1)|pancreas(1) 2 Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234) GCCATGCTGGGTCGGCAACGT 0.532 NA 5 19 1.024e-07 1.55521e-07 0.000602 1 0 SBF2 81846 broad.mit.edu 37 11 10011043 10011043 + Splice_Site SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:10011043C>A uc001mib.2 - 13 1533 c.1395_splice c.e13+1 p.N465_splice SBF2_uc001mif.3_Splice_Site_p.N221_splice NM_030962 NP_112224 Q86WG5 MTMRD_HUMAN SET binding factor 2 myelination cytoplasm|membrane phosphatase activity|protein binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887) TACTTACTTACATTTTTGAAT 0.214 NA 14 25 2.32078e-09 3.69606e-09 0.003163 1 0 MYOD1 4654 broad.mit.edu 37 11 17741497 17741497 + Silent SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:17741497C>T uc001mni.2 + 1 388 c.168C>T c.(166-168)CTC>CTT p.L56L NM_002478 NP_002469 P15172 MYOD1_HUMAN myogenic differentiation 1 56 muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|skeletal muscle tissue development nuclear chromatin|transcription factor complex E-box binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity breast(2)|ovary(1) 3 TGGGCGCGCTCCTGAAACCCG 0.687 NA 5 17 0 0 0.000602 0 0 MRGPRX4 117196 broad.mit.edu 37 11 18195341 18195341 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:18195341C>A uc001mnv.1 + 1 958 c.538C>A c.(538-540)CCA>ACA p.P180T NM_054032 NP_473373 Q96LA9 MRGX4_HUMAN MAS-related GPR, member X4 180 Helical; Name=5; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity skin(1) 1 AGATTTCATCCCAGTCGCGTG 0.522 NA 9 114 0.00448238 0.00501444 0.004482 1 0 IGSF22 283284 broad.mit.edu 37 11 18731050 18731050 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:18731050G>T uc009yht.2 - 18 3072 c.2882C>A c.(2881-2883)ACA>AAA p.T961K IGSF22_uc001mpa.2_RNA NM_173588 NP_775859 Q8N9C0 IGS22_HUMAN immunoglobulin superfamily, member 22 860 Fibronectin type-III 2. ovary(4)|large_intestine(2)|kidney(1) 7 TCCTCCCACTGTGTAGCAGGT 0.567 NA 23 54 3.28513e-13 5.97928e-13 0.003954 1 0 NAV2 89797 broad.mit.edu 37 11 20066649 20066649 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:20066649C>A uc010rdm.1 + 15 3765 c.3404C>A c.(3403-3405)ACA>AAA p.T1135K NAV2_uc001mpp.2_Missense_Mutation_p.T1048K|NAV2_uc001mpr.3_Missense_Mutation_p.T1112K|NAV2_uc001mpt.2_Missense_Mutation_p.T198K|NAV2_uc009yhx.2_Missense_Mutation_p.T198K|NAV2_uc009yhy.1_Missense_Mutation_p.T111K NM_145117 NP_660093 Q8IVL1 NAV2_HUMAN neuron navigator 2 isoform 2 1135 nucleus ATP binding|helicase activity skin(4)|ovary(1)|pancreas(1) 6 AGCTCTAGGACACCTACTGCC 0.602 NA 10 44 0.000442599 0.000527744 0.006214 1 0 C11orf41 25758 broad.mit.edu 37 11 33589742 33589742 + Missense_Mutation SNP G G A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:33589742G>A uc001mup.3 + 8 3450 c.3326G>A c.(3325-3327)CGG>CAG p.R1109Q C11orf41_uc001mun.1_Missense_Mutation_p.R1109Q NM_012194 NP_036326 Q6ZVL6 CK041_HUMAN hypothetical protein LOC25758 1103 integral to membrane ovary(2) 2 CGGTTTAAACGGGCCACCACC 0.587 NA 3 18 0 0 0.004672 0 0 FJX1 24147 broad.mit.edu 37 11 35640710 35640710 + Missense_Mutation SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:35640710C>T uc001mwh.2 + 1 976 c.526C>T c.(526-528)CGC>TGC p.R176C NM_014344 NP_055159 Q86VR8 FJX1_HUMAN four jointed box 1 precursor 176 extracellular space 0 all_cancers(35;0.177)|all_lung(20;0.0238)|Lung NSC(22;0.0494)|all_epithelial(35;0.0739) all_hematologic(20;0.107) CGACGGCACCCGCGCCTGCGT 0.736 Melanoma(161;10 2587 27165 47356) NA 3 7 0 0 0.001168 0 0 OR4C6 219432 broad.mit.edu 37 11 55432968 55432968 + Missense_Mutation SNP G G C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:55432968G>C uc001nht.3 + 3 591 c.326G>C c.(325-327)GGG>GCG p.G109A OR4C6_uc010rik.1_Missense_Mutation_p.G109A NM_001004704 NP_001004704 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, 109 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 GGTGGTGTGGGGATCATCCTC 0.547 NA 7 46 0 0 0.004482 0 0 OR5D18 219438 broad.mit.edu 37 11 55587841 55587842 + Missense_Mutation DNP CT CT AA TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 CT CT - - CT CT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:55587841_55587842CT>AA uc010rin.1 + 1 736_737 c.736_737CT>AA c.(736-738)CTG>AAG p.L246K NM_001001952 NP_001001952 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, 246 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_epithelial(135;0.208) TGCCTCCCACCTGACTGCCATC 0.51 NA 6 55 0 0 0.004672 0 0 OR8H3 390152 broad.mit.edu 37 11 55890132 55890132 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:55890132C>A uc001nii.1 + 1 284 c.284C>A c.(283-285)ACG>AAG p.T95K NM_001005201 NP_001005201 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, 95 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00693) ATTTCCTTCACGGGCTGCTTT 0.433 NA 20 291 1.01871e-10 1.73484e-10 0.008871 1 0 APLNR 187 broad.mit.edu 37 11 57003413 57003413 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:57003413G>T uc001njo.2 - 1 1515 c.1066C>A c.(1066-1068)CCC>ACC p.P356T APLNR_uc001njn.3_RNA NM_005161 NP_005152 P35414 APJ_HUMAN apelin receptor 356 Cytoplasmic (Potential). integral to plasma membrane G-protein coupled receptor activity lung(5)|ovary(1) 6 CCCATGTTGGGGCCGGGCCCC 0.627 NA 23 34 9.86323e-18 1.88497e-17 0.003954 1 0 OR5B21 219968 broad.mit.edu 37 11 58275275 58275275 + Missense_Mutation SNP A A T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:58275275A>T uc010rki.1 - 1 304 c.304T>A c.(304-306)TTT>ATT p.F102I NM_001005218 NP_001005218 A6NL26 OR5BL_HUMAN olfactory receptor, family 5, subfamily B, 102 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3) 3 Esophageal squamous(5;0.0027) Breast(21;0.0778) AACCCCACAAAGAAGAAGAAC 0.547 NA 7 13 0 0 0.001984 0 0 OR5A1 219982 broad.mit.edu 37 11 59210776 59210776 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:59210776C>A uc001nnx.1 + 1 135 c.135C>A c.(133-135)AAC>AAA p.N45K NM_001004728 NP_001004728 Q8NGJ0 OR5A1_HUMAN olfactory receptor, family 5, subfamily A, 45 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1) 2 TGGCCTGGAACCTGGCCCTCA 0.498 NA 4 74 0.00024832 0.000303453 0.009096 1 0 MS4A5 64232 broad.mit.edu 37 11 60198297 60198297 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:60198297C>A uc001npo.2 + 2 268 c.182C>A c.(181-183)ACC>AAC p.T61N NM_023945 NP_076434 Q9H3V2 MS4A5_HUMAN membrane-spanning 4-domains, subfamily A, member 61 Helical; (Potential). integral to membrane receptor activity large_intestine(1)|ovary(1) 2 GGAATTATGACCTTTTCTTTT 0.363 NA 28 95 1.26454e-06 1.79753e-06 0.005443 1 0 BSCL2 26580 broad.mit.edu 37 11 62462126 62462127 + Missense_Mutation DNP GG GG AA TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:62462126_62462127GG>AA uc001nuo.1 - 4 775_776 c.351_352CC>TT c.(349-354)TCCCCT>TCTTCT p.P118S BSCL2_uc009yoc.1_Missense_Mutation_p.P118S|BSCL2_uc001nup.2_Missense_Mutation_p.P118S|BSCL2_uc001nuq.1_Missense_Mutation_p.P118S|BSCL2_uc001nur.3_Missense_Mutation_p.P182S|BSCL2_uc009yod.2_Missense_Mutation_p.P182S|BSCL2_uc001nut.3_Missense_Mutation_p.P182S|HNRNPUL2_uc001nuu.1_RNA NM_032667 NP_116056 Q96G97 BSCL2_HUMAN seipin isoform 2 118 Lumenal (Potential). cell death integral to endoplasmic reticulum membrane 0 TGATTCACAGGGGACTCTGGCA 0.475 NA OREG0021029 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 22 0 0 0.004672 0 0 SF3B2 10992 broad.mit.edu 37 11 65828200 65828200 + Nonsense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:65828200G>T uc001ogy.1 + 14 1817 c.1777G>T c.(1777-1779)GAG>TAG p.E593* NM_006842 NP_006833 Q13435 SF3B2_HUMAN splicing factor 3B subunit 2 593 interspecies interaction between organisms catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex nucleic acid binding|protein binding ovary(2)|breast(1) 3 CCTGTACTATGAGGTTCGGGA 0.438 NA 10 53 0.000673444 0.000786638 0.008291 1 0 IGHMBP2 3508 broad.mit.edu 37 11 68707165 68707165 + Missense_Mutation SNP A A T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:68707165A>T uc001ook.1 + 15 3050 c.2948A>T c.(2947-2949)CAG>CTG p.Q983L IGHMBP2_uc001ool.1_Missense_Mutation_p.Q607L NM_002180 NP_002171 P38935 SMBP2_HUMAN immunoglobulin mu binding protein 2 983 cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation axon|growth cone|nucleus|ribonucleoprotein complex ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding 0 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) CTCAGCAACCAGAGGACCAGC 0.657 NA 6 15 0 0 0.001168 0 0 MRGPRD 116512 broad.mit.edu 37 11 68748403 68748403 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:68748403G>T uc010rqf.1 - 1 53 c.53C>A c.(52-54)TCC>TAC p.S18Y NM_198923 NP_944605 Q8TDS7 MRGRD_HUMAN MAS-related GPR, member D 18 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity pancreas(1) 1 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) GCTCCCTCTGGAATAGTTTAG 0.552 NA 10 35 2.17888e-05 2.89955e-05 0.006214 1 0 PAK1 5058 broad.mit.edu 37 11 77064628 77064628 + Silent SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:77064628C>A uc001oyh.3 - 8 1322 c.789G>T c.(787-789)GTG>GTT p.V263V PAK1_uc010rso.1_Silent_p.V165V|PAK1_uc001oyg.3_Silent_p.V263V|PAK1_uc001oyi.1_Silent_p.V263V|PAK1_uc010rsn.1_Intron NM_002576 NP_002567 Q13153 PAK1_HUMAN p21-activated kinase 1 isoform 2 263 Interaction with CRIPAK. apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway cytosol|focal adhesion|Golgi apparatus ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity skin(2)|stomach(1)|lung(1) 4 all_cancers(14;1.75e-18) TAGGATCGCCCACACTCACTA 0.413 NA 17 28 2.35188e-11 4.0861e-11 0.006122 1 0 ODZ4 26011 broad.mit.edu 37 11 78369359 78369359 + Missense_Mutation SNP T T A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:78369359T>A uc001ozl.3 - 34 8517 c.8054A>T c.(8053-8055)GAG>GTG p.E2685V ODZ4_uc001ozk.3_Missense_Mutation_p.E910V|ODZ4_uc009yvb.1_Intron NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN odz, odd Oz/ten-m homolog 4 2685 Extracellular (Potential). signal transduction integral to membrane ovary(2)|pancreas(2) 4 TGCCTTCTCCTCATCCAACGT 0.622 NA 6 16 0 0 0.001168 0 0 FAT3 120114 broad.mit.edu 37 11 92498234 92498234 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:92498234C>A uc001pdj.3 + 5 4191 c.4174C>A c.(4174-4176)CCT>ACT p.P1392T NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 1392 Cadherin 13.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) AGCTAACACCCCTCTGTGGTT 0.383 NA TCGA Ovarian(4;0.039) 7 16 0.00307968 0.00347347 0.00308 1 0 ENDOD1 23052 broad.mit.edu 37 11 94862606 94862606 + Missense_Mutation SNP G G C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:94862606G>C uc001pfh.2 + 2 1441 c.1366G>C c.(1366-1368)GCA>CCA p.A456P NM_015036 NP_055851 O94919 ENDD1_HUMAN endonuclease domain containing 1 precursor 456 extracellular region endonuclease activity|metal ion binding|nucleic acid binding 0 Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824) CAAGGACATTGCACTGGGCCT 0.522 NA 10 100 0 0 0.010729 0 0 DLAT 1737 broad.mit.edu 37 11 111915913 111915913 + Missense_Mutation SNP A A G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:111915913A>G uc001pmo.2 + 9 1908 c.1249A>G c.(1249-1251)ACA>GCA p.T417A DLAT_uc009yyk.1_Missense_Mutation_p.T312A|DLAT_uc010rwr.1_Missense_Mutation_p.T290A NM_001931 NP_001922 P10515 ODP2_HUMAN dihydrolipoamide S-acetyltransferase precursor 417 Catalytic (By similarity). glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial pyruvate dehydrogenase complex dihydrolipoyllysine-residue acetyltransferase activity|protein binding 0 all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663) Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557) NADH(DB00157) ACCAGTTCCTACAGGTGTCTT 0.468 NA 40 96 0 0 0.009718 0 0 TTC12 54970 broad.mit.edu 37 11 113215031 113215031 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:113215031G>T uc001pnu.2 + 13 1128 c.1023G>T c.(1021-1023)AGG>AGT p.R341S TTC12_uc001pnv.2_Missense_Mutation_p.R347S|TTC12_uc001pnw.2_RNA|TTC12_uc001pnx.2_Missense_Mutation_p.R191S NM_017868 NP_060338 Q9H892 TTC12_HUMAN tetratricopeptide repeat domain 12 341 binding pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 4 all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187) BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694) ACCATGACAGGGCCAGGCTGT 0.562 NA 38 58 2.40579e-17 4.585e-17 0.00623 1 0 USP28 57646 broad.mit.edu 37 11 113712397 113712397 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:113712397C>A uc001poh.2 - 4 395 c.362G>T c.(361-363)AGA>ATA p.R121I USP28_uc010rwy.1_5'UTR|USP28_uc001poi.2_5'UTR|USP28_uc001poj.3_Missense_Mutation_p.R121I|USP28_uc010rwz.1_Missense_Mutation_p.R121I NM_020886 NP_065937 Q96RU2 UBP28_HUMAN ubiquitin specific protease 28 121 cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process nucleolus|nucleoplasm protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1) 7 all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104) GTTAAGATCTCTTCCATCAGC 0.393 Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765) NA 5 67 2.0095e-06 2.82727e-06 0.001984 1 0 DSCAML1 57453 broad.mit.edu 37 11 117389381 117389381 + Missense_Mutation SNP G G C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:117389381G>C uc001prh.1 - 7 1492 c.1490C>G c.(1489-1491)CCC>CGC p.P497R DSCAML1_uc001pri.1_Missense_Mutation_p.P301R NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 437 Extracellular (Potential).|Ig-like C2-type 5. 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) GGTGACCGTGGGGGGCGGGGC 0.667 NA 6 35 0 0 0.001168 0 0 MLL 4297 broad.mit.edu 37 11 118366490 118366490 + Missense_Mutation SNP A A T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:118366490A>T uc001pta.2 + 19 5453 c.5430A>T c.(5428-5430)GAA>GAT p.E1810D MLL_uc001ptb.2_Missense_Mutation_p.E1813D NM_005933 NP_005924 Q03164 MLL1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 1810 apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1) 25 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) AGCGAGAGGAAAACAGCCACA 0.448 NA T|O MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB AML|ALL 5 93 0 0 0.000602 0 0 TECTA 7007 broad.mit.edu 37 11 121028721 121028721 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:121028721G>T uc010rzo.1 + 13 4477 c.4477G>T c.(4477-4479)GGC>TGC p.G1493C NM_005422 NP_005413 O75443 TECTA_HUMAN tectorin alpha precursor 1493 VWFD 4. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix breast(6)|ovary(2)|skin(2) 10 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) GGCCGGCGGCGGCGTCTTCCG 0.667 NA 3 28 0.004672 0.00515945 0.004672 1 0 SORL1 6653 broad.mit.edu 37 11 121385030 121385030 + Missense_Mutation SNP G G A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:121385030G>A uc001pxx.2 + 8 1291 c.1211G>A c.(1210-1212)AGG>AAG p.R404K NM_003105 NP_003096 Q92673 SORL_HUMAN sortilin-related receptor containing LDLR class 404 Extracellular (Potential). cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1) 15 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) ACCTTGGTGAGGTAAGGAGAC 0.438 NA 3 7 0 0 0.009096 0 0 ZNF202 7753 broad.mit.edu 37 11 123597077 123597077 + Silent SNP T T A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:123597077T>A uc001pzd.1 - 9 1975 c.1575A>T c.(1573-1575)ACA>ACT p.T525T ZNF202_uc001pzc.1_Silent_p.T301T|ZNF202_uc001pze.1_Silent_p.T525T|ZNF202_uc001pzf.1_Silent_p.T525T NM_003455 NP_003446 O95125 ZN202_HUMAN zinc finger protein 202 525 C2H2-type 4. lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03) TTTGGTGTGTTGTTAACACAG 0.493 NA 25 53 0 0 0.004656 0 0 OR10G8 219869 broad.mit.edu 37 11 123900990 123900990 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:123900990G>T uc001pzp.1 + 1 661 c.661G>T c.(661-663)GTC>TTC p.V221F NM_001004464 NP_001004464 Q8NGN5 O10G8_HUMAN olfactory receptor, family 10, subfamily G, 221 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) TGTGTCCATCGTCTGTTCCAT 0.542 NA 19 65 2.94398e-08 4.53123e-08 0.007413 1 0 KCNA5 3741 broad.mit.edu 37 12 5154245 5154245 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr12:5154245C>A uc001qni.2 + 1 1161 c.932C>A c.(931-933)ACG>AAG p.T311K NM_002234 NP_002225 P22460 KCNA5_HUMAN potassium voltage-gated channel, shaker-related 311 Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity ovary(2)|breast(2) 4 TCTGGCCCTACGGTGGCACCG 0.711 NA 14 49 7.93312e-07 1.13236e-06 0.00245 1 0 MLF2 8079 broad.mit.edu 37 12 6857982 6857982 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr12:6857982C>A uc010sfi.1 - 8 789 c.726G>T c.(724-726)CAG>CAT p.Q242H MLF2_uc001qqp.2_Missense_Mutation_p.Q242H|MLF2_uc009zey.1_Missense_Mutation_p.Q242H NM_005439 NP_005430 Q15773 MLF2_HUMAN myeloid leukemia factor 2 242 defense response cytoplasm|nucleus protein binding large_intestine(1) 1 AGCGGCGGGACTGTCGGGAAG 0.682 NA 13 48 2.31682e-05 3.07124e-05 0.003163 1 0 CLSTN3 9746 broad.mit.edu 37 12 7286289 7286289 + Missense_Mutation SNP A A G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr12:7286289A>G uc001qsr.2 + 3 586 c.308A>G c.(307-309)AAG>AGG p.K103R CLSTN3_uc001qss.2_Missense_Mutation_p.K115R NM_014718 NP_055533 Q9BQT9 CSTN3_HUMAN calsyntenin 3 precursor 103 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding large_intestine(1) 1 GAGGCCCAGAAGGAACACACC 0.622 NA 16 50 0 0 0.00499 0 0 CLEC4D 338339 broad.mit.edu 37 12 8670779 8670779 + Silent SNP A A C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr12:8670779A>C uc001qun.2 + 3 334 c.141A>C c.(139-141)TCA>TCC p.S47S NM_080387 NP_525126 Q8WXI8 CLC4D_HUMAN C-type lectin domain family 4, member D 47 Extracellular (Potential). innate immune response integral to membrane sugar binding 0 Lung SC(5;0.184) ACAACTTTTCACGCTGTAAGA 0.398 NA 6 6 0 0 0.001984 0 0 A2ML1 144568 broad.mit.edu 37 12 9004398 9004398 + Silent SNP G G A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr12:9004398G>A uc001quz.3 + 19 2351 c.2253G>A c.(2251-2253)GCG>GCA p.A751A A2ML1_uc001qva.1_Silent_p.A331A|A2ML1_uc010sgm.1_Silent_p.A251A NM_144670 NP_653271 A8K2U0 A2ML1_HUMAN alpha-2-macroglobulin-like 1 precursor 595 extracellular space endopeptidase inhibitor activity ovary(2)|skin(1) 3 GGAAGGAGGCGGTCCACGTCA 0.527 NA 6 28 0 0 0.001168 0 0 PZP 5858 broad.mit.edu 37 12 9356398 9356398 + Missense_Mutation SNP G G A rs150991757 byFrequency TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr12:9356398G>A uc001qvl.2 - 2 262 c.233C>T c.(232-234)GCG>GTG p.A78V PZP_uc009zgl.2_5'UTR NM_002864 NP_002855 pregnancy-zone protein precursor ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1) 5 GTCCTTCTCCGCCACCAGGTC 0.512 Melanoma(125;1402 1695 4685 34487 38571) NA 19 61 0 0 0.007413 0 0 DDX12 440081 broad.mit.edu 37 12 9572653 9572653 + Missense_Mutation SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr12:9572653C>T uc010sgs.1 - 23 2491 c.2296G>A c.(2296-2298)GTG>ATG p.V766M DDX12_uc001qvx.3_Translation_Start_Site|DDX12_uc001qvy.1_Translation_Start_Site NM_004400 NP_004391 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12 0 GCCCCTGTCACGGGGCCTCTC 0.567 NA 14 40 0 0 0.003163 0 0 DDX12 440081 broad.mit.edu 37 12 9572801 9572801 + Silent SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr12:9572801C>T uc010sgs.1 - 22 2448 c.2253G>A c.(2251-2253)GCG>GCA p.A751A DDX12_uc001qvx.3_5'Flank|DDX12_uc001qvy.1_5'Flank NM_004400 NP_004391 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12 0 ACCTGGAATACGCCAGCAGCA 0.557 NA 3 10 0 0 0.004672 0 0 CSDA 8531 broad.mit.edu 37 12 10870707 10870707 + Missense_Mutation SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr12:10870707C>T uc001qyt.2 - 3 583 c.340G>A c.(340-342)GAA>AAA p.E114K CSDA_uc001qyu.2_Missense_Mutation_p.E114K NM_003651 NP_003642 P16989 DBPA_HUMAN cold shock domain protein A isoform a 114 CSD. negative regulation of transcription from RNA polymerase II promoter|response to cold cytoplasm|nucleus double-stranded DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(2)|lung(1)|large_intestine(1) 4 Glioma(1;0.155) AATACATCTTCTTTGGTGTCA 0.353 NA 11 26 0 0 0.013537 0 0 FAR2 55711 broad.mit.edu 37 12 29460703 29460703 + Silent SNP A A C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr12:29460703A>C uc001ris.3 + 5 805 c.658A>C c.(658-660)AGG>CGG p.R220R FAR2_uc001rit.2_Silent_p.R220R|FAR2_uc009zjm.2_Silent_p.R123R|uc001riu.1_Intron NM_018099 NP_060569 Q96K12 FACR2_HUMAN fatty acyl CoA reductase 2 220 ether lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor 0 GCAAGAGAGCAGGAACCTGAA 0.483 NA 25 49 0 0 0.00278 0 0 FGD4 121512 broad.mit.edu 37 12 32735171 32735171 + Missense_Mutation SNP G G C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr12:32735171G>C uc001rkz.2 + 4 847 c.370G>C c.(370-372)GAT>CAT p.D124H FGD4_uc001rlc.2_Missense_Mutation_p.D209H|FGD4_uc001rky.2_5'UTR|FGD4_uc001rla.2_5'UTR|FGD4_uc010ske.1_Missense_Mutation_p.D236H|FGD4_uc001rlb.1_RNA|FGD4_uc001rkx.3_Missense_Mutation_p.D124H NM_139241 NP_640334 Q96M96 FGD4_HUMAN FYVE, RhoGEF and PH domain containing 4 124 Actin filament-binding (By similarity). actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) ACCCTTGCTTGATACGCACAT 0.468 NA 5 65 0 0 0.000602 0 0 FGD4 121512 broad.mit.edu 37 12 32786555 32786555 + Missense_Mutation SNP A A C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr12:32786555A>C uc001rkz.2 + 15 2311 c.1834A>C c.(1834-1836)AAA>CAA p.K612Q FGD4_uc001rlc.2_Missense_Mutation_p.K697Q|FGD4_uc001rky.2_Missense_Mutation_p.K364Q|FGD4_uc001rla.2_Missense_Mutation_p.K268Q|FGD4_uc010ske.1_Missense_Mutation_p.K724Q|FGD4_uc001rlb.1_RNA NM_139241 NP_640334 Q96M96 FGD4_HUMAN FYVE, RhoGEF and PH domain containing 4 612 FYVE-type. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) CAAAGTTTGTAAAGACTGTTA 0.299 NA 9 30 0 0 0.004482 0 0 KIF21A 55605 broad.mit.edu 37 12 39703569 39703569 + Splice_Site SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr12:39703569C>A uc001rly.2 - 33 4243 c.4097_splice c.e33-1 p.D1366_splice KIF21A_uc001rlv.2_Splice_Site_p.D311_splice|KIF21A_uc001rlw.2_Splice_Site_p.D636_splice|KIF21A_uc001rlx.2_Splice_Site_p.D1353_splice|KIF21A_uc001rlz.2_Splice_Site_p.D1313_splice|KIF21A_uc010skl.1_Splice_Site_p.D1329_splice|KIF21A_uc001rlt.2_Splice_Site|KIF21A_uc001rlu.2_Splice_Site NM_017641 NP_060111 Q7Z4S6 KI21A_HUMAN kinesin family member 21A microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(4)|pancreas(1)|lung(1)|skin(1) 7 Lung NSC(34;0.179)|all_lung(34;0.213) CAAGTACGATCTAAAACAAAC 0.318 NA 7 14 0.000274275 0.000331637 0.004482 1 0 ADAMTS20 80070 broad.mit.edu 37 12 43771344 43771344 + Missense_Mutation SNP T T C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr12:43771344T>C uc010skx.1 - 32 4819 c.4819A>G c.(4819-4821)AGT>GGT p.S1607G NM_025003 NP_079279 P59510 ATS20_HUMAN a disintegrin-like and metalloprotease with 1607 TSP type-1 14. proteinaceous extracellular matrix zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1) 19 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) TGTCTGTAACTAAATCCACAG 0.333 NA 6 22 0 0 0.001168 0 0 GALNT6 11226 broad.mit.edu 37 12 51753114 51753114 + Silent SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr12:51753114C>A uc001ryk.2 - 7 1395 c.1170G>T c.(1168-1170)GTG>GTT p.V390V GALNT6_uc009zma.1_RNA|GALNT6_uc001ryl.1_Silent_p.V390V|GALNT6_uc001ryj.1_5'UTR NM_007210 NP_009141 Q8NCL4 GALT6_HUMAN polypeptide N-acetylgalactosaminyltransferase 6 390 Catalytic subdomain B.|Lumenal (Potential). protein O-linked glycosylation Golgi membrane|integral to membrane|perinuclear region of cytoplasm polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2) 2 CACACTGCCACACCTGATGTA 0.582 NA 17 61 1.15088e-07 1.72506e-07 0.004007 1 0 KRT6B 3854 broad.mit.edu 37 12 52843418 52843418 + Splice_Site SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr12:52843418C>T uc001sak.2 - 5 961 c.913_splice c.e5-1 p.E305_splice NM_005555 NP_005546 P04259 K2C6B_HUMAN keratin 6B ectoderm development keratin filament structural constituent of cytoskeleton ovary(2) 2 BRCA - Breast invasive adenocarcinoma(357;0.083) GGGACAGCTCCTGCAGAACAG 0.512 NA 17 82 0 0 0.004007 0 0 KRT5 3852 broad.mit.edu 37 12 52913586 52913586 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr12:52913586C>A uc001san.2 - 1 658 c.495G>T c.(493-495)AGG>AGT p.R165S KRT5_uc009zmh.2_Missense_Mutation_p.R165S NM_000424 NP_000415 P13647 K2C5_HUMAN keratin 5 165 Head. epidermis development|hemidesmosome assembly cytosol|keratin filament protein binding|structural constituent of cytoskeleton 0 BRCA - Breast invasive adenocarcinoma(357;0.189) GCTCCTCGGTCCTCACCCTCT 0.522 NA 22 71 7.45023e-12 1.31093e-11 0.010504 1 0 MAP3K12 7786 broad.mit.edu 37 12 53880347 53880347 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr12:53880347G>T uc001sdm.1 - 4 504 c.406C>A c.(406-408)CAG>AAG p.Q136K MAP3K12_uc001sdn.1_Missense_Mutation_p.Q169K NM_006301 NP_006292 Q12852 M3K12_HUMAN mitogen-activated protein kinase kinase kinase 136 ATP (By similarity).|Protein kinase. histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation cytosol|membrane fraction|plasma membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding lung(2)|ovary(1)|breast(1)|skin(1) 5 ACAGCACCCTGGGCCCCTGAG 0.597 NA 3 16 6.4e-05 8.171e-05 0.004672 1 0 GLI1 2735 broad.mit.edu 37 12 57865660 57865660 + Missense_Mutation SNP A A T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr12:57865660A>T uc001snx.2 + 12 3215 c.3137A>T c.(3136-3138)CAG>CTG p.Q1046L GLI1_uc009zpq.2_Missense_Mutation_p.Q918L NM_005269 NP_005260 P08151 GLI1_HUMAN GLI family zinc finger 1 isoform 1 1046 Asp/Glu-rich (acidic). epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter cytosol|nucleus transcription regulatory region DNA binding|zinc ion binding skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1) 15 GBM - Glioblastoma multiforme(3;3.99e-32) GACAACACTCAGCTGGACTTT 0.597 Pancreas(157;841 1936 10503 41495 50368) NA 29 98 0 0 0.009535 0 0 SLC26A10 65012 broad.mit.edu 37 12 58019026 58019026 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr12:58019026G>T uc001spe.2 + 12 1697 c.1386G>T c.(1384-1386)GAG>GAT p.E462D SLC26A10_uc001spf.2_RNA|SLC26A10_uc009zpz.1_Intron NM_133489 NP_597996 Q8NG04 S2610_HUMAN solute carrier family 26, member 10 462 STAS. integral to membrane antiporter activity large_intestine(1)|central_nervous_system(1) 2 Melanoma(17;0.122) TAGTTGCTGAGCCTGTCAGGG 0.552 NA 16 92 2.32078e-09 3.69606e-09 0.003163 1 0 AVPR1A 552 broad.mit.edu 37 12 63541318 63541318 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr12:63541318C>A uc001sro.1 - 2 3052 c.1078G>T c.(1078-1080)GTT>TTT p.V360F NM_000706 NP_000697 P37288 V1AR_HUMAN arginine vasopressin receptor 1A 360 Cytoplasmic (Potential). activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy endosome|integral to plasma membrane protein kinase C binding|vasopressin receptor activity 0 BRCA - Breast invasive adenocarcinoma(9;0.193) GBM - Glioblastoma multiforme(28;0.0569) Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067) AAGCTTTGAACACAGTCTTGA 0.398 NA 10 55 0.000442599 0.000527744 0.006214 1 0 SRGAP1 57522 broad.mit.edu 37 12 64456799 64456799 + Missense_Mutation SNP A A T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr12:64456799A>T uc010ssp.1 + 7 960 c.904A>T c.(904-906)ATT>TTT p.I302F SRGAP1_uc001srt.2_Missense_Mutation_p.I302F|SRGAP1_uc001srv.2_Missense_Mutation_p.I262F NM_020762 NP_065813 Q7Z6B7 SRGP1_HUMAN SLIT-ROBO Rho GTPase activating protein 1 302 axon guidance cytosol ovary(2)|central_nervous_system(2) 4 GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225) GBM - Glioblastoma multiforme(28;0.0608) CTTAGACATTATTGAGAATGC 0.453 NA 8 36 0 0 0.00308 0 0 LGR5 8549 broad.mit.edu 37 12 71976302 71976302 + Missense_Mutation SNP A A T rs147607370 TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr12:71976302A>T uc001swl.2 + 17 1667 c.1619A>T c.(1618-1620)CAG>CTG p.Q540L LGR5_uc001swm.2_Missense_Mutation_p.Q516L|LGR5_uc001swn.1_RNA NM_003667 NP_003658 O75473 LGR5_HUMAN leucine-rich repeat-containing G protein-coupled 540 Extracellular (Potential). integral to plasma membrane protein-hormone receptor activity lung(4)|skin(3)|ovary(1)|pancreas(1) 9 CATTCAGTGCAGTGTTCACCT 0.433 NA 10 41 0 0 0.010729 0 0 TRHDE 29953 broad.mit.edu 37 12 73046831 73046831 + Missense_Mutation SNP T T G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr12:73046831T>G uc001sxa.2 + 17 2774 c.2744T>G c.(2743-2745)CTG>CGG p.L915R NM_013381 NP_037513 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 915 Extracellular (Potential). cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding ovary(2)|skin(1) 3 GAGGTGGTGCTGGATCAAGAT 0.333 NA 8 24 0 0 0.006214 0 0 NAV3 89795 broad.mit.edu 37 12 78522583 78522583 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr12:78522583C>A uc001syp.2 + 18 4551 c.4378C>A c.(4378-4380)CCT>ACT p.P1460T NAV3_uc001syo.2_Missense_Mutation_p.P1460T|NAV3_uc010sub.1_Missense_Mutation_p.P946T|NAV3_uc009zsf.2_Missense_Mutation_p.P291T NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 1460 Ser-rich. nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 CAACCAGTCACCTCTGGTTTC 0.443 NA HNSCC(70;0.22) 11 43 1.58986e-06 2.25067e-06 0.008291 1 0 ACSS3 79611 broad.mit.edu 37 12 81472166 81472166 + Silent SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr12:81472166C>T uc001szl.1 + 1 358 c.267C>T c.(265-267)CCC>CCT p.P89P ACSS3_uc001szm.1_Silent_p.P89P NM_024560 NP_078836 Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 89 mitochondrion acetate-CoA ligase activity|ATP binding ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 GGTACAAGCCCTGGACCAAAA 0.602 NA 6 43 0 0 0.001168 0 0 ACSS3 79611 broad.mit.edu 37 12 81568685 81568685 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr12:81568685G>T uc001szl.1 + 8 1308 c.1217G>T c.(1216-1218)GGG>GTG p.G406V ACSS3_uc001szm.1_Missense_Mutation_p.G405V|ACSS3_uc001szn.1_Missense_Mutation_p.G88V NM_024560 NP_078836 Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 406 mitochondrion acetate-CoA ligase activity|ATP binding ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 CAGGACCCTGGGGCAGCTTTG 0.478 NA 4 28 0.00909568 0.00988598 0.009096 1 0 CDK17 5128 broad.mit.edu 37 12 96707213 96707213 + Silent SNP T T C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr12:96707213T>C uc001tep.1 - 4 792 c.303A>G c.(301-303)CTA>CTG p.L101L CDK17_uc009ztk.2_Silent_p.L101L|CDK17_uc010svb.1_Silent_p.L48L NM_002595 NP_002586 Q00537 CDK17_HUMAN PCTAIRE protein kinase 2 101 ATP binding|cyclin-dependent protein kinase activity ovary(3)|lung(2)|kidney(1)|central_nervous_system(1) 7 ATCCCATTTTTAGATTTTCAT 0.313 NA 5 20 0 0 0.000602 0 0 APAF1 317 broad.mit.edu 37 12 99102470 99102470 + Silent SNP A A T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr12:99102470A>T uc001tfz.2 + 20 3406 c.2829A>T c.(2827-2829)ATA>ATT p.I943I APAF1_uc001tfy.2_Silent_p.I932I|APAF1_uc001tga.2_Silent_p.I889I|APAF1_uc001tgb.2_Silent_p.I900I|APAF1_uc001tgc.2_Intron|APAF1_uc009zto.2_Silent_p.I309I NM_181861 NP_863651 O14727 APAF_HUMAN apoptotic peptidase activating factor 1 isoform 943 activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development cytosol|Golgi apparatus|nucleus ATP binding|caspase activator activity|protein binding ovary(2)|lung(1) 3 Adenosine triphosphate(DB00171) TTGACCATATAAGACGTCTGC 0.328 NA 5 14 0 0 0.000602 0 0 TDG 6996 broad.mit.edu 37 12 104379432 104379432 + Missense_Mutation SNP A A T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr12:104379432A>T uc001tkg.2 + 9 1239 c.1016A>T c.(1015-1017)GAG>GTG p.E339V TDG_uc009zuk.2_Missense_Mutation_p.E335V|TDG_uc010swi.1_Missense_Mutation_p.E196V|TDG_uc010swj.1_Missense_Mutation_p.E127V NM_003211 NP_003202 Q13569 TDG_HUMAN thymine-DNA glycosylase 339 depyrimidination|mismatch repair nucleoplasm damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity ovary(3)|lung(3) 6 BRCA - Breast invasive adenocarcinoma(302;0.00114) CCAGGTTATGAGGCAGCATAT 0.403 NA BER_DNA_glycosylases 4 64 0 0 0.009096 0 0 WSCD2 9671 broad.mit.edu 37 12 108589825 108589825 + Silent SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr12:108589825G>T uc001tms.2 + 2 960 c.216G>T c.(214-216)CTG>CTT p.L72L WSCD2_uc001tmt.2_Silent_p.L72L NM_014653 NP_055468 Q2TBF2 WSCD2_HUMAN WSC domain containing 2 72 integral to membrane ovary(1)|large_intestine(1)|breast(1) 3 ACATGCATCTGGGCAGAGGTT 0.622 NA 15 106 1.5739e-10 2.6671e-10 0.004007 1 0 TMEM119 338773 broad.mit.edu 37 12 108985845 108985845 + Silent SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr12:108985845G>T uc001tng.2 - 2 478 c.315C>A c.(313-315)GCC>GCA p.A105A TMEM119_uc001tnf.2_RNA NM_181724 NP_859075 Q4V9L6 TM119_HUMAN transmembrane protein 119 precursor 105 Helical; (Potential). integral to membrane ovary(1) 1 TCAGCAGAAAGGCCAGGGAGC 0.587 NA 9 40 1.12685e-05 1.53216e-05 0.004482 1 0 EP400 57634 broad.mit.edu 37 12 132490798 132490798 + Missense_Mutation SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr12:132490798C>T uc001ujn.2 + 13 3112 c.3077C>T c.(3076-3078)GCG>GTG p.A1026V EP400_uc001ujl.2_Missense_Mutation_p.A1025V|EP400_uc001ujm.2_Missense_Mutation_p.A1026V NM_015409 NP_056224 Q96L91 EP400_HUMAN E1A binding protein p400 1062 Interactions with RUVBL1 and RUVBL2. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity central_nervous_system(4)|ovary(3)|breast(3)|skin(2) 12 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) GACGTCACTGCGGTGGCTGAA 0.552 NA 14 45 0 0 0.001855 0 0 MTMR6 9107 broad.mit.edu 37 13 25831917 25831917 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr13:25831917C>A uc001uqf.3 - 8 1245 c.926G>T c.(925-927)CGC>CTC p.R309L MTMR6_uc001uqe.1_Missense_Mutation_p.R309L NM_004685 NP_004676 Q9Y217 MTMR6_HUMAN myotubularin related protein 6 309 Myotubularin phosphatase. cytoplasm|nuclear envelope calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity ovary(2)|skin(2) 4 Lung SC(185;0.0225)|Breast(139;0.0351) all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164) TTTGATATGGCGAAGCCATCC 0.388 NA 3 41 2.56e-06 3.57984e-06 0.009096 1 0 ATP8A2 51761 broad.mit.edu 37 13 26273477 26273477 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr13:26273477G>T uc001uqk.2 + 25 2520 c.2378G>T c.(2377-2379)TGC>TTC p.C793F ATP8A2_uc010tdi.1_Missense_Mutation_p.C753F|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc010aaj.1_Missense_Mutation_p.C343F NM_016529 NP_057613 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter-like, 753 Cytoplasmic (Potential). ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|large_intestine(1)|skin(1) 4 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) GCGGTCATATGCTGCAGGTAG 0.522 NA 7 14 0.00198382 0.00225226 0.001984 1 0 FRY 10129 broad.mit.edu 37 13 32835909 32835909 + Nonsense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr13:32835909G>T uc001utx.2 + 52 8069 c.7573G>T c.(7573-7575)GAG>TAG p.E2525* FRY_uc010tdw.1_RNA|FRY_uc001uty.2_Nonsense_Mutation_p.E80*|FRY_uc001utz.2_Nonsense_Mutation_p.E50*|FRY_uc010tdx.1_5'Flank NM_023037 NP_075463 Q5TBA9 FRY_HUMAN furry homolog 2525 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane ovary(5)|large_intestine(1)|skin(1) 7 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) ATCATCCGAGGAGGAGGACCT 0.493 NA 4 33 0.00024832 0.000303453 0.009096 1 0 POSTN 10631 broad.mit.edu 37 13 38154116 38154116 + Missense_Mutation SNP G G C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr13:38154116G>C uc001uwo.3 - 12 1660 c.1542C>G c.(1540-1542)AGC>AGG p.S514R POSTN_uc010tet.1_Missense_Mutation_p.S42R|POSTN_uc001uwp.3_Missense_Mutation_p.S514R|POSTN_uc001uwr.2_Missense_Mutation_p.S514R|POSTN_uc001uwq.2_Missense_Mutation_p.S514R|POSTN_uc010teu.1_Missense_Mutation_p.S514R|POSTN_uc010tev.1_Missense_Mutation_p.S514R|POSTN_uc010tew.1_Missense_Mutation_p.S514R|POSTN_uc010tex.1_Missense_Mutation_p.S429R NM_006475 NP_006466 Q15063 POSTN_HUMAN periostin, osteoblast specific factor isoform 1 514 FAS1 4. cell adhesion|skeletal system development proteinaceous extracellular matrix heparin binding ovary(2) 2 Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743) all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154) CTTCAAGTAGGCTGAGGAAGG 0.398 NA 5 37 0 0 0.000602 0 0 FREM2 341640 broad.mit.edu 37 13 39265078 39265079 + Missense_Mutation DNP GG GG TA TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr13:39265078_39265079GG>TA uc001uwv.2 + 1 3906_3907 c.3597_3598GG>TA c.(3595-3600)ATGGTG>ATTATG p.1199_1200MV>IM NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN FRAS1-related extracellular matrix protein 2 1199_1200 CSPG 8.|Extracellular (Potential). cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 11 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) GAGAATTTATGGTGATGGAAGG 0.411 NA 17 95 0 0 0.004672 0 0 SUGT1 10910 broad.mit.edu 37 13 53254252 53254252 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr13:53254252G>T uc001vhc.2 + 13 1183 c.958G>T c.(958-960)GGT>TGT p.G320C SUGT1_uc001vha.2_RNA|SUGT1_uc001vhb.2_Missense_Mutation_p.G288C|SUGT1_uc010thb.1_Missense_Mutation_p.G232C|SUGT1_uc001vhd.2_Missense_Mutation_p.G177C NM_001130912 NP_001124384 Q9Y2Z0 SUGT1_HUMAN suppressor of G2 allele of SKP1 isoform a 320 SGS. mitosis kinetochore|ubiquitin ligase complex binding 0 Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.25e-08) CTATTCAGATGGTTCTGATGA 0.318 NA 12 91 4.36969e-10 7.20947e-10 0.001855 1 0 PCDH8 5100 broad.mit.edu 37 13 53420780 53420780 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr13:53420780G>T uc001vhi.2 - 1 1995 c.1792C>A c.(1792-1794)CGC>AGC p.R598S PCDH8_uc001vhj.2_Missense_Mutation_p.R598S NM_002590 NP_002581 O95206 PCDH8_HUMAN protocadherin 8 isoform 1 precursor 598 Extracellular (Potential).|Cadherin 5. cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding breast(1) 1 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) TCCAGCACGCGCACTTGCACT 0.657 GBM(36;25 841 9273 49207) NA 5 5 0.000602214 0.000707037 0.000602 1 0 KLHL1 57626 broad.mit.edu 37 13 70681342 70681342 + Missense_Mutation SNP C C G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr13:70681342C>G uc001vip.2 - 1 1284 c.490G>C c.(490-492)GGA>CGA p.G164R KLHL1_uc010thm.1_Missense_Mutation_p.G164R|ATXN8OS_uc010aej.1_5'Flank NM_020866 NP_065917 Q9NR64 KLHL1_HUMAN kelch-like 1 protein 164 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding 0 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) TACCTGTGTCCACATCCTTCA 0.512 NA 22 48 0 0 0.014323 0 0 UGGT2 55757 broad.mit.edu 37 13 96638604 96638604 + Silent SNP G G A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr13:96638604G>A uc001vmt.2 - 9 1184 c.1014C>T c.(1012-1014)AAC>AAT p.N338N UGGT2_uc010afo.2_RNA|UGGT2_uc001vmv.2_Silent_p.N338N|UGGT2_uc010afp.2_Silent_p.N364N NM_020121 NP_064506 Q9NYU1 UGGG2_HUMAN UDP-glucose ceramide glucosyltransferase-like 2 338 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity ovary(2)|central_nervous_system(1) 3 TTATGGGGAAGTTCTGTGAAA 0.303 NA 5 24 0 0 0.001168 0 0 HS6ST3 266722 broad.mit.edu 37 13 97485064 97485064 + Missense_Mutation SNP A A T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr13:97485064A>T uc001vmw.2 + 2 1052 c.1028A>T c.(1027-1029)AAC>ATC p.N343I NM_153456 NP_703157 Q8IZP7 H6ST3_HUMAN heparan sulfate 6-O-sulfotransferase 3 343 Lumenal (Potential). integral to membrane sulfotransferase activity ovary(1)|skin(1) 2 all_neural(89;0.0878)|Medulloblastoma(90;0.163) AGTGCAAAGAACAACCTGAAG 0.488 NA 9 51 0 0 0.008291 0 0 HS6ST3 266722 broad.mit.edu 37 13 97485066 97485066 + Missense_Mutation SNP A A T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr13:97485066A>T uc001vmw.2 + 2 1054 c.1030A>T c.(1030-1032)AAC>TAC p.N344Y NM_153456 NP_703157 Q8IZP7 H6ST3_HUMAN heparan sulfate 6-O-sulfotransferase 3 344 Lumenal (Potential). integral to membrane sulfotransferase activity ovary(1)|skin(1) 2 all_neural(89;0.0878)|Medulloblastoma(90;0.163) TGCAAAGAACAACCTGAAGAA 0.488 NA 9 51 0 0 0.008291 0 0 OR4Q3 441669 broad.mit.edu 37 14 20215674 20215674 + Missense_Mutation SNP C C A rs4494468 TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr14:20215674C>A uc010tkt.1 + 1 88 c.88C>A c.(88-90)CTA>ATA p.L30I NM_172194 NP_751944 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, 30 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3) 3 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TCTCTTCTTACTATTTTTGTT 0.378 NA 23 80 3.5997e-14 6.67545e-14 0.014323 1 0 Unknown 0 broad.mit.edu 37 14 22217500 22217500 + Missense_Mutation SNP C C G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr14:22217500C>G uc010tmf.1 + 1 106 c.27C>G c.(25-27)TTC>TTG p.F9L uc010aip.1_Intron|uc010aiq.1_Missense_Mutation_p.F9L SubName: Full=Putative uncharacterized protein ENSP00000374943; NA GATTTTCGTTCCTGTTTTTGT 0.453 NA 31 118 0 0 0.004289 0 0 MYH7 4625 broad.mit.edu 37 14 23885422 23885422 + Nonsense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr14:23885422C>A uc001wjx.2 - 34 4850 c.4744G>T c.(4744-4746)GAG>TAG p.E1582* NM_000257 NP_000248 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1582 Potential. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(3)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) TGTTCCATCTCCTCGTCCTTC 0.642 NA 31 111 9.65021e-13 1.729e-12 0.010818 1 0 MYH7 4625 broad.mit.edu 37 14 23886893 23886893 + Missense_Mutation SNP T T A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr14:23886893T>A uc001wjx.2 - 31 4278 c.4172A>T c.(4171-4173)AAG>ATG p.K1391M NM_000257 NP_000248 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1391 Potential. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(3)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) GGCCAGCTTCTTCCTGCCCAG 0.582 NA 5 34 0 0 0.000602 0 0 G2E3 55632 broad.mit.edu 37 14 31071081 31071081 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr14:31071081G>T uc001wqk.2 + 9 1012 c.858G>T c.(856-858)AGG>AGT p.R286S G2E3_uc010tpe.1_Missense_Mutation_p.R201S|G2E3_uc010tpf.1_Missense_Mutation_p.R240S NM_017769 NP_060239 Q7L622 G2E3_HUMAN G2/M-phase specific E3 ubiquitin ligase 286 PHD-type 3. apoptosis|multicellular organismal development|protein modification process Golgi apparatus|nucleolus acid-amino acid ligase activity|protein binding|zinc ion binding ovary(2)|skin(1) 3 TGGAATGTAGGGGTATTATCT 0.343 NA 9 39 0.000274275 0.000331637 0.004482 1 0 CLEC14A 161198 broad.mit.edu 37 14 38724382 38724382 + Silent SNP G G A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr14:38724382G>A uc001wum.1 - 1 1193 c.846C>T c.(844-846)GAC>GAT p.D282D NM_175060 NP_778230 Q86T13 CLC14_HUMAN C-type lectin domain family 14, member A 282 Extracellular (Potential).|EGF-like. integral to membrane sugar binding ovary(3)|skin(1) 4 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00439) AAGAGCGGCCGTCCTTCCCCA 0.677 NA 6 66 0 0 0.001168 0 0 LRFN5 145581 broad.mit.edu 37 14 42360569 42360569 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr14:42360569G>T uc001wvm.2 + 4 2700 c.1502G>T c.(1501-1503)AGA>ATA p.R501I LRFN5_uc010ana.2_Intron NM_152447 NP_689660 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III 501 Extracellular (Potential).|Fibronectin type-III. integral to membrane ovary(5)|pancreas(2)|central_nervous_system(1) 8 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) ACTGCCACAAGAGTCGTGGGT 0.433 NA HNSCC(30;0.082) 22 82 1.36565e-18 2.62448e-18 0.00278 1 0 FANCM 57697 broad.mit.edu 37 14 45642334 45642334 + Missense_Mutation SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr14:45642334C>T uc001wwd.3 + 13 2336 c.2237C>T c.(2236-2238)ACA>ATA p.T746I FANCM_uc010anf.2_Missense_Mutation_p.T720I|FANCM_uc001wwe.3_Missense_Mutation_p.T282I|FANCM_uc010ang.2_5'Flank NM_020937 NP_065988 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 746 DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding ovary(3)|lung(2)|breast(2) 7 CCTTTGCCTACACATCAAGTT 0.388 NA Involved_in_tolerance_or_repair_of_DNA_crosslinks FanconAnemia 12 42 0 0 0.010729 0 0 KTN1 3895 broad.mit.edu 37 14 56104545 56104545 + Missense_Mutation SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr14:56104545C>T uc001xcb.2 + 13 2067 c.1765C>T c.(1765-1767)CAT>TAT p.H589Y KTN1_uc001xce.2_Missense_Mutation_p.H589Y|KTN1_uc001xcc.2_Missense_Mutation_p.H589Y|KTN1_uc001xcd.2_Missense_Mutation_p.H589Y|KTN1_uc010trb.1_Missense_Mutation_p.H589Y|KTN1_uc001xcf.1_Missense_Mutation_p.H589Y NM_182926 NP_891556 Q86UP2 KTN1_HUMAN kinectin 1 isoform a 589 Lumenal (Potential).|Potential. microtubule-based movement endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction breast(3)|ovary(2)|lung(1)|central_nervous_system(1) 7 TCAGCAGTTCCATTCCCAGAT 0.373 NA T RET papillary thryoid 15 50 0 0 0.00499 0 0 RTN1 6252 broad.mit.edu 37 14 60193775 60193775 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr14:60193775G>T uc001xen.1 - 3 1836 c.1627C>A c.(1627-1629)CTG>ATG p.L543M RTN1_uc001xem.1_Missense_Mutation_p.L123M NM_021136 NP_066959 Q16799 RTN1_HUMAN reticulon 1 isoform A 543 neuron differentiation integral to endoplasmic reticulum membrane signal transducer activity ovary(2)|central_nervous_system(2) 4 OV - Ovarian serous cystadenocarcinoma(108;0.0968) TCAGGCTCCAGGGCTCCGTCT 0.677 NA 6 10 3.59834e-05 4.69764e-05 0.001168 1 0 KCNH5 27133 broad.mit.edu 37 14 63416895 63416895 + Missense_Mutation SNP G G C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr14:63416895G>C uc001xfx.2 - 7 1376 c.1325C>G c.(1324-1326)ACA>AGA p.T442R KCNH5_uc001xfy.2_Missense_Mutation_p.T442R|KCNH5_uc001xfz.1_Missense_Mutation_p.T384R|KCNH5_uc001xga.2_Missense_Mutation_p.T384R NM_139318 NP_647479 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H, 442 Extracellular (Potential). regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity ovary(4)|skin(4)|central_nervous_system(1) 9 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) CTCCACATCTGTGGTAGGAGC 0.398 NA 11 33 0 0 0.010729 0 0 KCNH5 27133 broad.mit.edu 37 14 63417223 63417223 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr14:63417223G>T uc001xfx.2 - 7 1048 c.997C>A c.(997-999)CGT>AGT p.R333S KCNH5_uc001xfy.2_Missense_Mutation_p.R333S|KCNH5_uc001xfz.1_Missense_Mutation_p.R275S|KCNH5_uc001xga.2_Missense_Mutation_p.R275S NM_139318 NP_647479 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H, 333 Helical; Voltage-sensor; Name=Segment S4; (Potential). regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity ovary(4)|skin(4)|central_nervous_system(1) 9 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) CTAGCCACACGGCCCAGTCGT 0.463 NA 14 52 1.52009e-12 2.70238e-12 0.003163 1 0 RDH12 145226 broad.mit.edu 37 14 68191237 68191238 + Missense_Mutation DNP GC GC CA TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 GC GC - - GC GC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr14:68191237_68191238GC>CA uc001xjz.3 + 4 440_441 c.116_117GC>CA c.(115-117)GGC>GCA p.G39A NM_152443 NP_689656 Q96NR8 RDH12_HUMAN retinol dehydrogenase 12 39 photoreceptor cell maintenance|response to stimulus|retinol metabolic process intracellular binding|retinol dehydrogenase activity ovary(1) 1 all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953) Vitamin A(DB00162) CAGCTTCCTGGCAAGGTAGTGG 0.535 NA 13 65 0 0 0.004672 0 0 ADAM21P1 145241 broad.mit.edu 37 14 70712911 70712911 + Nonsense_Mutation SNP A A T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr14:70712911A>T uc010ttg.1 - 1 1608 c.957T>A c.(955-957)TAT>TAA p.Y319* NR_003951 SubName: Full=ADAM21-like protein; 0 CGTCCTGCACATATCTATCTT 0.448 NA 5 37 0 0 0.000602 0 0 ADAM21P1 145241 broad.mit.edu 37 14 70713412 70713412 + Silent SNP A A G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr14:70713412A>G uc010ttg.1 - 1 1107 c.456T>C c.(454-456)TGT>TGC p.C152C NR_003951 SubName: Full=ADAM21-like protein; 0 TATCAACTCCACAATCAATAG 0.408 NA 19 92 0 0 0.014323 0 0 RPS6KL1 83694 broad.mit.edu 37 14 75376737 75376737 + Missense_Mutation SNP A A G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr14:75376737A>G uc010tux.1 - 7 1307 c.779T>C c.(778-780)CTG>CCG p.L260P RPS6KL1_uc001xqx.1_Missense_Mutation_p.L12P|RPS6KL1_uc001xqw.2_Missense_Mutation_p.L229P|RPS6KL1_uc010asd.1_RNA NM_031464 NP_113652 Q9Y6S9 RPKL1_HUMAN ribosomal protein S6 kinase-like 1 260 Protein kinase. ribosome ATP binding|protein serine/threonine kinase activity ovary(1)|stomach(1)|central_nervous_system(1) 3 BRCA - Breast invasive adenocarcinoma(234;0.00658) CGCTGGGGTCAGGAGGTTGAG 0.642 NA 12 47 0 0 0.013537 0 0 GPR65 8477 broad.mit.edu 37 14 88477406 88477406 + Missense_Mutation SNP A A T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr14:88477406A>T uc001xvv.2 + 2 745 c.215A>T c.(214-216)GAT>GTT p.D72V NM_003608 NP_003599 Q8IYL9 PSYR_HUMAN G protein-coupled receptor 65 72 Extracellular (Potential). actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity integral to plasma membrane G-protein coupled receptor activity 0 TTATGGATTGATTATACCTGG 0.393 NA 10 89 0 0 0.006214 0 0 KCNK10 54207 broad.mit.edu 37 14 88651918 88651918 + Silent SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr14:88651918C>A uc001xwo.2 - 7 2035 c.1578G>T c.(1576-1578)CGG>CGT p.R526R KCNK10_uc001xwm.2_Silent_p.R531R|KCNK10_uc001xwn.2_Silent_p.R531R NM_021161 NP_066984 P57789 KCNKA_HUMAN potassium channel, subfamily K, member 10 526 Cytoplasmic (Potential). signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity ovary(2)|skin(2)|pancreas(1) 5 TCTCCGGCTCCCGGTCTTTGG 0.428 NA 12 62 1.08611e-07 1.63869e-07 0.010729 1 0 SERPINA6 866 broad.mit.edu 37 14 94780929 94780929 + Silent SNP G G C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr14:94780929G>C uc001ycv.2 - 2 161 c.57C>G c.(55-57)ACC>ACG p.T19T SERPINA6_uc010auv.2_RNA NM_001756 NP_001747 P08185 CBG_HUMAN corticosteroid binding globulin precursor 19 regulation of proteolysis|transport extracellular space serine-type endopeptidase inhibitor activity|steroid binding skin(3)|ovary(1)|central_nervous_system(1) 5 all_cancers(154;0.0482)|all_epithelial(191;0.166) COAD - Colon adenocarcinoma(157;0.211) Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620) TGGCCTGGACGGTCCAGAGGC 0.547 NA 21 101 0 0 0.012319 0 0 HHIPL1 84439 broad.mit.edu 37 14 100118736 100118736 + Missense_Mutation SNP G G C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr14:100118736G>C uc010avs.2 + 2 496 c.431G>C c.(430-432)AGG>ACG p.R144T HHIPL1_uc001ygl.1_Missense_Mutation_p.R144T NM_001127258 NP_001120730 Q96JK4 HIPL1_HUMAN HHIP-like protein 1 isoform a 144 carbohydrate metabolic process extracellular region|membrane oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity skin(2) 2 Melanoma(154;0.128) AACCTTGCCAGGTTCTGCCGC 0.587 NA 10 49 0 0 0.006214 0 0 DIO3 1735 broad.mit.edu 37 14 102027990 102027990 + Missense_Mutation SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr14:102027990C>T uc010txq.1 + 1 303 c.79C>T c.(79-81)CTC>TTC p.L27F DIO3OS_uc001ykd.1_5'Flank|uc001yke.2_5'Flank|uc001ykf.2_5'Flank|uc001ykg.2_5'Flank|uc001ykh.3_5'Flank|MIR1247_hsa-mir-1247|MI0006382_5'Flank NM_001362 NP_001353 P55073 IOD3_HUMAN deiodinase, iodothyronine, type III 27 Helical; Signal-anchor for type II membrane protein; (Potential). cellular nitrogen compound metabolic process|hormone biosynthetic process endosome membrane|integral to membrane|plasma membrane thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_neural(303;0.185) CCCGCGCTTCCTCGGCACGGC 0.672 NA 4 43 0 0 0.000602 0 0 AHNAK2 113146 broad.mit.edu 37 14 105415909 105415909 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr14:105415909G>T uc010axc.1 - 7 5999 c.5879C>A c.(5878-5880)GCC>GAC p.A1960D AHNAK2_uc001ypx.2_Missense_Mutation_p.A1860D NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 1960 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) AGCCTTCTGGGCCTGGACATC 0.592 NA 44 174 1.52319e-26 3.04637e-26 0.00874 1 0 BAHD1 22893 broad.mit.edu 37 15 40751539 40751539 + Silent SNP C C T rs138741325 TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr15:40751539C>T uc001zlu.2 + 2 947 c.876C>T c.(874-876)TCC>TCT p.S292S BAHD1_uc001zlt.2_Silent_p.S292S|BAHD1_uc010bbp.1_Silent_p.S292S|BAHD1_uc001zlv.2_Silent_p.S292S NM_014952 NP_055767 Q8TBE0 BAHD1_HUMAN bromo adjacent homology domain containing 1 292 Pro-rich. heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin silencing complex|chromosome chromatin binding|DNA binding|protein binding 0 all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08) GTGGGCCATCCGTCCAGCCAT 0.662 NA 3 34 0 0 0.004672 0 0 HDC 3067 broad.mit.edu 37 15 50534992 50534993 + Missense_Mutation DNP GG GG TT TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr15:50534992_50534993GG>TT uc001zxz.2 - 12 1559_1560 c.1453_1454CC>AA c.(1453-1455)CCT>AAT p.P485N HDC_uc001zxy.2_Missense_Mutation_p.P228N|HDC_uc010uff.1_Missense_Mutation_p.P452N NM_002112 NP_002103 P19113 DCHS_HUMAN histidine decarboxylase 485 catecholamine biosynthetic process|histidine metabolic process histidine decarboxylase activity large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 6 all_lung(180;0.0138) all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05) L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114) CCCAACCCGAGGGCTGGGTTGG 0.559 GBM(95;1627 1936 6910 9570) NA 6 20 0 0 0.004672 0 0 DMXL2 23312 broad.mit.edu 37 15 51834664 51834664 + Missense_Mutation SNP C C A rs149964881 by1000genomes TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr15:51834664C>A uc002abf.2 - 9 1196 c.971G>T c.(970-972)AGG>ATG p.R324M DMXL2_uc010ufy.1_Missense_Mutation_p.R324M|DMXL2_uc010bfa.2_Missense_Mutation_p.R324M NM_015263 NP_056078 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 324 cell junction|synaptic vesicle membrane Rab GTPase binding ovary(6)|skin(3) 9 all cancers(107;0.00494) AACAGATGACCTCCTCTGTCC 0.388 NA 6 28 0.00198382 0.00225226 0.001984 1 0 VPS13C 54832 broad.mit.edu 37 15 62265686 62265686 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr15:62265686C>A uc002agz.2 - 26 2658 c.2584G>T c.(2584-2586)GGT>TGT p.G862C VPS13C_uc002aha.2_Missense_Mutation_p.G819C|VPS13C_uc002ahb.1_Missense_Mutation_p.G862C|VPS13C_uc002ahc.1_Missense_Mutation_p.G819C NM_020821 NP_065872 Q709C8 VP13C_HUMAN vacuolar protein sorting 13C protein isoform 2A 862 protein localization ovary(2) 2 AGTGAAGTACCAAGTAGACCT 0.318 NA 11 57 9.31168e-06 1.27365e-05 0.001855 1 0 MAP2K5 5607 broad.mit.edu 37 15 67879196 67879196 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr15:67879196G>T uc002aqu.2 + 6 1029 c.376G>T c.(376-378)GCC>TCC p.A126S MAP2K5_uc002aqt.1_Missense_Mutation_p.A126S|MAP2K5_uc002aqv.2_Missense_Mutation_p.A126S|MAP2K5_uc002aqw.2_5'UTR|MAP2K5_uc010ujw.1_Missense_Mutation_p.A90S NM_145160 NP_660143 Q13163 MP2K5_HUMAN mitogen-activated protein kinase kinase 5 126 Interaction with MAPK7 (By similarity). nerve growth factor receptor signaling pathway ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity lung(2) 2 GAATACTCGGGCCGGACCCTC 0.428 NA 24 73 1.33986e-20 2.62628e-20 0.004656 1 0 CLN6 54982 broad.mit.edu 37 15 68500742 68500742 + Silent SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr15:68500742C>A uc002arf.2 - 7 830 c.672G>T c.(670-672)CTG>CTT p.L224L CALML4_uc002arb.2_5'Flank|CALML4_uc002arc.2_5'Flank|CALML4_uc002ard.2_5'Flank|CALML4_uc002are.2_5'Flank|CALML4_uc010bhz.2_5'Flank|CLN6_uc010ujy.1_Silent_p.L95L|CLN6_uc010ujz.1_Silent_p.L256L NM_017882 NP_060352 Q9NWW5 CLN6_HUMAN CLN6 protein 224 Helical; (Potential). cell death|cholesterol metabolic process|ganglioside metabolic process|glycosaminoglycan metabolic process|lysosomal lumen acidification|positive regulation of proteolysis|protein catabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane protein homodimerization activity 0 CCTCGGTGACCAGGTACCTGG 0.632 NA 6 28 5.9392e-07 8.56639e-07 0.001168 1 0 FEM1B 10116 broad.mit.edu 37 15 68582377 68582377 + Silent SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr15:68582377C>A uc002arg.2 + 2 1296 c.681C>A c.(679-681)GCC>GCA p.A227A FEM1B_uc002arh.2_Silent_p.A147A NM_015322 NP_056137 Q9UK73 FEM1B_HUMAN fem-1 homolog b 227 ANK 6. apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity cytoplasm|nucleus death receptor binding|ubiquitin-protein ligase activity 0 AAGTAGCTGCCGAAAGCTGTA 0.473 NA 12 36 0.00010058 0.000125588 0.013537 1 0 LOC645752 645752 broad.mit.edu 37 15 78208207 78208207 + Missense_Mutation SNP A A T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr15:78208207A>T uc010bky.2 - 15 1726 c.962T>A c.(961-963)CTT>CAT p.L321H LOC645752_uc010umq.1_5'Flank|uc002bcw.1_5'Flank|uc002bcx.1_5'Flank NR_027024 SubName: Full=GOLGA6 protein; Flags: Fragment; 0 GACGAATCCAAGCTCTCGTCT 0.602 NA 4 45 0 0 0.009096 0 0 LOC645752 645752 broad.mit.edu 37 15 78211648 78211648 + Missense_Mutation SNP A A G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr15:78211648A>G uc010bky.2 - 11 883 c.119T>C c.(118-120)CTA>CCA p.L40P NR_027024 SubName: Full=GOLGA6 protein; Flags: Fragment; 0 CGCCAGGGATAGGGGCTCAGC 0.522 NA 3 63 0 0 0.004672 0 0 CHRNA3 1136 broad.mit.edu 37 15 78894452 78894452 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr15:78894452C>A uc002bec.2 - 5 718 c.532G>T c.(532-534)GGT>TGT p.G178C CHRNA3_uc002bea.2_RNA|CHRNA3_uc002beb.2_Missense_Mutation_p.G178C NM_000743 NP_000734 P32297 ACHA3_HUMAN cholinergic receptor, nicotinic, alpha 3 178 Extracellular (Potential). activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity central_nervous_system(3)|ovary(1) 4 GACCAGGAACCGAACTTCATG 0.502 NA 22 108 1.66031e-10 2.78607e-10 0.003954 1 0 IL16 3603 broad.mit.edu 37 15 81578129 81578129 + Silent SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr15:81578129C>A uc002bgh.3 + 10 1666 c.1290C>A c.(1288-1290)CCC>CCA p.P430P IL16_uc002bgc.2_RNA|IL16_uc010blq.1_Silent_p.P430P|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Silent_p.P472P|IL16_uc002bgg.2_Silent_p.P430P|IL16_uc002bgi.1_5'UTR NM_172217 NP_757366 Q14005 IL16_HUMAN interleukin 16 isoform 2 430 PDZ 2.|Interaction with GRIN2A. immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|extracellular space|nucleus|plasma membrane cytokine activity ovary(2)|lung(1)|skin(1) 4 ACTGTGATCCCGGTCCAGTCC 0.522 NA 19 82 2.94398e-08 4.53123e-08 0.007413 1 0 ADAMTSL3 57188 broad.mit.edu 37 15 84611395 84611395 + Missense_Mutation SNP G G A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr15:84611395G>A uc002bjz.3 + 18 2389 c.2165G>A c.(2164-2166)GGA>GAA p.G722E ADAMTSL3_uc010bmt.1_Missense_Mutation_p.G722E|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.G722E NM_207517 NP_997400 P82987 ATL3_HUMAN ADAMTS-like 3 precursor 722 TSP type-1 5. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1) 27 BRCA - Breast invasive adenocarcinoma(143;0.211) TGTGGAGTTGGAATTCAGACC 0.537 NA 14 52 0 0 0.003163 0 0 FURIN 5045 broad.mit.edu 37 15 91421384 91421384 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr15:91421384G>T uc002bpu.1 + 8 906 c.690G>T c.(688-690)GAG>GAT p.E230D NM_002569 NP_002560 P09958 FURIN_HUMAN furin preproprotein 230 cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity central_nervous_system(4)|lung(2)|breast(1) 7 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) TGGATGGCGAGGTGACAGATG 0.662 NA 12 53 1.05317e-09 1.71296e-09 0.00245 1 0 ZNF200 7752 broad.mit.edu 37 16 3283746 3283746 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr16:3283746C>A uc002cuj.2 - 2 642 c.10G>T c.(10-12)GCA>TCA p.A4S ZNF200_uc002cum.3_Missense_Mutation_p.A4S|ZNF200_uc010bti.2_Missense_Mutation_p.A4S|ZNF200_uc002cuk.2_Missense_Mutation_p.A4S|ZNF200_uc002cui.2_Missense_Mutation_p.A4S|ZNF200_uc002cul.3_Missense_Mutation_p.A4S NM_003454 NP_003445 P98182 ZN200_HUMAN zinc finger protein 200 isoform 1 4 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding 0 ACCACTTTTGCAGCCATCATG 0.537 NA 21 108 1.28384e-07 1.92018e-07 0.012319 1 0 MYH11 4629 broad.mit.edu 37 16 15826436 15826436 + Silent SNP A A T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr16:15826436A>T uc002ddy.2 - 27 3743 c.3636T>A c.(3634-3636)CTT>CTA p.L1212L MYH11_uc002ddv.2_Silent_p.L1219L|MYH11_uc002ddw.2_Silent_p.L1212L|MYH11_uc002ddx.2_Silent_p.L1219L|MYH11_uc010bvg.2_Silent_p.L1044L NM_002474 NP_002465 P35749 MYH11_HUMAN smooth muscle myosin heavy chain 11 isoform 1212 Potential. axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1) 15 TGAACTGCTCAAGCTGCTCTG 0.517 NA T CBFB AML 17 132 0 0 0.006122 0 0 CP110 9738 broad.mit.edu 37 16 19562548 19562548 + Missense_Mutation SNP G G T rs141344673 by1000genomes TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr16:19562548G>T uc002dgl.3 + 15 3264 c.3017G>T c.(3016-3018)CGG>CTG p.R1006L CP110_uc002dgk.3_Silent_p.A977A O43303 CP110_HUMAN RecName: Full=Centrosomal protein of 110 kDa; Short=Cep110; 1006 centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis centriole|cytosol protein binding 0 CAAAGAAAGCGGCCAAATGTT 0.308 NA 22 113 1.9806e-07 2.95586e-07 0.014323 1 0 UMOD 7369 broad.mit.edu 37 16 20352638 20352638 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr16:20352638C>A uc002dgz.2 - 7 1481 c.1352G>T c.(1351-1353)GGC>GTC p.G451V UMOD_uc002dha.2_Missense_Mutation_p.G451V|UMOD_uc002dhb.2_Missense_Mutation_p.G484V NM_003361 NP_003352 P07911 UROM_HUMAN uromodulin precursor 451 ZP. cellular defense response|negative regulation of cell proliferation anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole calcium ion binding ovary(1)|skin(1) 2 GCCGGTCCCGCCCACTCTGAT 0.577 NA 5 29 1.23904e-05 1.67149e-05 0.000602 1 0 ACSM5 54988 broad.mit.edu 37 16 20441028 20441028 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr16:20441028C>A uc002dhe.2 + 8 1177 c.1030C>A c.(1030-1032)CTG>ATG p.L344M NM_017888 NP_060358 Q6NUN0 ACSM5_HUMAN acyl-CoA synthetase medium-chain family member 5 344 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding ovary(2) 2 GAGGCACTGTCTGACCGGAGG 0.562 NA 18 86 1.99824e-07 2.9693e-07 0.00499 1 0 ACSM2B 348158 broad.mit.edu 37 16 20554585 20554585 + Splice_Site SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr16:20554585C>A uc002dhj.3 - 12 1492 c.1282_splice c.e12-1 p.E428_splice ACSM2B_uc002dhk.3_Splice_Site_p.E428_splice|ACSM2B_uc010bwf.1_Splice_Site_p.E428_splice NM_182617 NP_872423 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding skin(3)|ovary(1)|central_nervous_system(1) 5 CGGGATTTTCCTGGTGACCAC 0.483 NA 20 119 9.57634e-11 1.63894e-10 0.00333 1 0 SCNN1G 6340 broad.mit.edu 37 16 23203735 23203735 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr16:23203735G>T uc002dlm.1 + 4 820 c.681G>T c.(679-681)CAG>CAT p.Q227H NM_001039 NP_001030 P51170 SCNNG_HUMAN sodium channel, nonvoltage-gated 1, gamma 227 Extracellular (By similarity). excretion|sensory perception of taste apical plasma membrane|integral to plasma membrane ligand-gated sodium channel activity|WW domain binding ovary(2)|skin(2)|large_intestine(1)|pancreas(1) 6 GBM - Glioblastoma multiforme(48;0.0366) Amiloride(DB00594)|Triamterene(DB00384) ATGCCATTCAGGAGTGGTATA 0.502 NA 8 54 3.09899e-07 4.56553e-07 0.004482 1 0 APOB48R 55911 broad.mit.edu 37 16 28509075 28509075 + Missense_Mutation SNP G G A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr16:28509075G>A uc002dqb.1 + 3 2696 c.2686G>A c.(2686-2688)GGG>AGG p.G896R uc010vct.1_Intron|APOB48R_uc010byg.1_Missense_Mutation_p.G434R NM_018690 NP_061160 Q0VD83 APOBR_HUMAN apolipoprotein B48 receptor 896 Glu-rich. cholesterol metabolic process|lipid transport chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle 0 GGGGCGGTGTGGGGACTACCA 0.617 NA 5 7 0 0 0.001168 0 0 ITGAX 3687 broad.mit.edu 37 16 31382660 31382660 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr16:31382660G>T uc002ebu.1 + 16 1914 c.1847G>T c.(1846-1848)AGA>ATA p.R616I ITGAX_uc002ebt.2_Missense_Mutation_p.R616I NM_000887 NP_000878 P20702 ITAX_HUMAN integrin alpha X precursor 616 FG-GAP 7.|Extracellular (Potential). blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 CGCAGGACCAGACCTGTGCTC 0.652 NA 5 16 3.59834e-05 4.69764e-05 0.001168 1 0 ABCC11 85320 broad.mit.edu 37 16 48249190 48249190 + Silent SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr16:48249190G>T uc002eff.1 - 7 1367 c.1017C>A c.(1015-1017)ATC>ATA p.I339I ABCC11_uc002efg.1_Silent_p.I339I|ABCC11_uc002efh.1_Silent_p.I339I|ABCC11_uc010vgk.1_RNA NM_033151 NP_149163 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C, member 11 339 ABC transmembrane type-1 1. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(3)|skin(2)|central_nervous_system(1) 6 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) TGGTCACACGGATGCGCTGGT 0.438 NA Cerumen_Type 4 50 0.00909568 0.00988598 0.009096 1 0 COG4 25839 broad.mit.edu 37 16 70542344 70542344 + Silent SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr16:70542344C>A uc002ezc.2 - 8 1037 c.1026G>T c.(1024-1026)CTG>CTT p.L342L COG4_uc002ezb.2_5'UTR|COG4_uc010cfu.2_RNA|COG4_uc002ezd.2_Silent_p.L342L|COG4_uc002eze.2_Silent_p.L36L NM_015386 NP_056201 Q9H9E3 COG4_HUMAN component of oligomeric golgi complex 4 338 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) AATTTCTCATCAGGTTGTTCT 0.408 NA 10 21 4.68919e-08 7.18522e-08 0.008291 1 0 VAT1L 57687 broad.mit.edu 37 16 77918688 77918688 + Missense_Mutation SNP G G A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr16:77918688G>A uc002ffg.1 + 7 1163 c.1066G>A c.(1066-1068)GCT>ACT p.A356T NM_020927 NP_065978 Q9HCJ6 VAT1L_HUMAN vesicle amine transport protein 1 homolog (T. 356 oxidoreductase activity|zinc ion binding central_nervous_system(1) 1 CTCCTTGTGGGCTCTGGAGGA 0.473 NA 4 12 0 0 0.009096 0 0 CRISPLD2 83716 broad.mit.edu 37 16 84906612 84906612 + Silent SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr16:84906612C>T uc010voh.1 + 10 1223 c.996C>T c.(994-996)TGC>TGT p.C332C CRISPLD2_uc010vog.1_Intron|CRISPLD2_uc002fio.2_Silent_p.C331C|CRISPLD2_uc002fim.2_Silent_p.C332C|CRISPLD2_uc002fin.3_Silent_p.C332C NM_031476 NP_113664 Q9H0B8 CRLD2_HUMAN cysteine-rich secretory protein LCCL domain 332 LCCL 1. extracellular region|transport vesicle 0 CTAGCATATGCCGCGCCGCCA 0.542 NA 4 97 0 0 0.009096 0 0 ZCCHC14 23174 broad.mit.edu 37 16 87445200 87445200 + Missense_Mutation SNP G G C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr16:87445200G>C uc002fjz.1 - 12 2743 c.2716C>G c.(2716-2718)CTA>GTA p.L906V ZCCHC14_uc002fka.1_RNA|ZCCHC14_uc002fkb.2_Missense_Mutation_p.L682V NM_015144 NP_055959 Q8WYQ9 ZCH14_HUMAN zinc finger, CCHC domain containing 14 906 CCHC-type. cell communication nucleic acid binding|phosphatidylinositol binding|zinc ion binding upper_aerodigestive_tract(1)|breast(1) 2 BRCA - Breast invasive adenocarcinoma(80;0.0285) TAACAAGATAGGTTCCCGCTC 0.607 NA 14 77 0 0 0.001855 0 0 MYO1C 4641 broad.mit.edu 37 17 1384168 1384169 + Missense_Mutation DNP CA CA AG TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 CA CA - - CA CA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr17:1384168_1384169CA>AG uc002fsp.2 - 6 858_859 c.638_639TG>CT c.(637-639)GTG>GCT p.V213A MYO1C_uc002fsn.2_Missense_Mutation_p.V194A|MYO1C_uc002fso.2_Missense_Mutation_p.V178A|MYO1C_uc010vqj.1_Missense_Mutation_p.V178A|MYO1C_uc010vqk.1_Missense_Mutation_p.V189A NM_001080779 NP_001074248 O00159 MYO1C_HUMAN myosin IC isoform a 213 Myosin head-like. mRNA transport|protein transport|transmembrane transport basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane actin binding|ATP binding|calmodulin binding|motor activity 0 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) TGTGGCCACCCACGGGGGCACC 0.604 NA 5 61 0 0 0.004672 0 0 NEURL4 84461 broad.mit.edu 37 17 7224528 7224528 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr17:7224528C>A uc002gga.1 - 20 3270 c.3263G>T c.(3262-3264)AGA>ATA p.R1088I NEURL4_uc002gfy.1_5'Flank|GPS2_uc002gfz.1_5'Flank|NEURL4_uc002ggb.1_Missense_Mutation_p.R1086I NM_032442 NP_115818 Q96JN8 NEUL4_HUMAN neuralized homolog 4 isoform 1 1088 protein binding upper_aerodigestive_tract(1)|ovary(1) 2 CTCCTCCAGTCTCGTGGAACT 0.592 NA 6 11 0.00116845 0.00134655 0.001168 1 0 TP53 7157 broad.mit.edu 37 17 7574026 7574026 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr17:7574026C>A uc002gim.2 - 10 1195 c.1001G>T c.(1000-1002)GGG>GTG p.G334V TP53_uc002gig.1_Intron|TP53_uc002gih.2_Intron|TP53_uc010cne.1_Intron|TP53_uc010cnf.1_3'UTR|TP53_uc010cng.1_3'UTR|TP53_uc002gii.1_Missense_Mutation_p.G202V|TP53_uc010cnh.1_3'UTR|TP53_uc010cni.1_3'UTR|TP53_uc002gij.2_Missense_Mutation_p.G334V NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 334 Oligomerization.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.|Interaction with HIPK2. G -> W (in a sporadic cancer; somatic mutation).|G -> V (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.0?(7)|p.G334V(3)|p.I332fs*5(1)|p.G334W(1)|p.?(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) GCGCTCACGCCCACGGATCTG 0.428 Pancreas(47;798 1329 9957 10801) 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 7 22 1.76689e-08 2.74407e-08 0.006214 1 0 MYH1 4619 broad.mit.edu 37 17 10399347 10399347 + Nonsense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr17:10399347C>A uc002gmo.2 - 35 5183 c.5089G>T c.(5089-5091)GAA>TAA p.E1697* uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1697 Potential. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1) 21 TCTGTCTGTTCCAGAGTGGCC 0.572 NA 6 36 2.0095e-06 2.82727e-06 0.001984 1 0 DNAH9 1770 broad.mit.edu 37 17 11835517 11835517 + Missense_Mutation SNP G G A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr17:11835517G>A uc002gne.2 + 64 12360 c.12292G>A c.(12292-12294)GCA>ACA p.A4098T DNAH9_uc010coo.2_Missense_Mutation_p.A3316T|DNAH9_uc002gnf.2_Missense_Mutation_p.A410T NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 4098 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GGAGGCCAACGCAAAGGTAAA 0.443 NA 7 23 0 0 0.00308 0 0 PHF12 57649 broad.mit.edu 37 17 27251018 27251018 + Silent SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr17:27251018C>T uc002hdg.1 - 4 1154 c.624G>A c.(622-624)CGG>CGA p.R208R PHF12_uc010wbb.1_Silent_p.R190R|PHF12_uc002hdi.1_Silent_p.R204R|PHF12_uc002hdj.1_Silent_p.R208R|PHF12_uc010crw.1_Intron|uc002hdl.2_5'Flank|PHF12_uc002hdh.1_5'UTR NM_001033561 NP_001028733 Q96QT6 PHF12_HUMAN PHD finger protein 12 isoform 1 208 Interaction with SIN3A. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex protein binding|zinc ion binding ovary(1) 1 all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01) Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05) GCTCAAAGGGCCGCCTCAGCT 0.562 NA 11 21 0 0 0.010729 0 0 EVI2B 2124 broad.mit.edu 37 17 29632168 29632169 + Missense_Mutation DNP GG GG TT TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr17:29632168_29632169GG>TT uc002hgk.2 - 2 614_615 c.459_460CC>AA c.(457-462)GTCCAG>GTAAAG p.Q154K NF1_uc002hgg.2_Intron|NF1_uc002hgh.2_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.2_Intron|EVI2B_uc010csq.2_Missense_Mutation_p.Q169K NM_006495 NP_006486 P34910 EVI2B_HUMAN ecotropic viral integration site 2B precursor 154 Extracellular (Potential). cytoplasm|integral to plasma membrane ovary(2) 2 all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094) UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184) GAAGGGATCTGGACAGATGATG 0.406 NA 22 122 0 0 0.004672 0 0 ACACA 31 broad.mit.edu 37 17 35627714 35627714 + Silent SNP G G A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr17:35627714G>A uc002hnm.2 - 10 1127 c.936C>T c.(934-936)GCC>GCT p.A312A ACACA_uc002hnk.2_Silent_p.A234A|ACACA_uc002hnl.2_Silent_p.A254A|ACACA_uc002hnn.2_Silent_p.A312A|ACACA_uc002hno.2_Silent_p.A349A|ACACA_uc010cuz.2_Silent_p.A312A NM_198836 NP_942133 Q13085 ACACA_HUMAN acetyl-Coenzyme A carboxylase alpha isoform 2 312 Biotin carboxylation.|ATP-grasp. acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding large_intestine(1)|ovary(1) 2 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) CTCCCTCTGAGGCCTTGATCA 0.388 Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249) NA 33 127 0 0 0.013726 0 0 KRT10 3858 broad.mit.edu 37 17 38978715 38978715 + Silent SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr17:38978715G>T uc002hvi.2 - 1 149 c.123C>A c.(121-123)GGC>GGA p.G41G KRT10_uc010cxd.2_5'Flank|TMEM99_uc002hvj.1_Intron NM_000421 NP_000412 P13645 K1C10_HUMAN keratin 10 41 Head.|Gly-rich. epidermis development protein binding|structural constituent of epidermis 0 Breast(137;0.000301) CACCAAGGGAGCCTTTGCTGC 0.443 NA 9 30 0.000274275 0.000331637 0.004482 1 0 KRT34 3885 broad.mit.edu 37 17 39537424 39537424 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr17:39537424C>A uc002hwm.2 - 3 610 c.598G>T c.(598-600)GAC>TAC p.D200Y NM_021013 NP_066293 O76011 KRT34_HUMAN keratin 34 200 Rod.|Coil 1B. epidermis development intermediate filament protein binding|structural molecule activity central_nervous_system(1) 1 Breast(137;0.000496) CTGTTGATGTCCGACTCCACC 0.567 NA 12 53 0.000978159 0.00113486 0.010729 1 0 KRT38 8687 broad.mit.edu 37 17 39596834 39596834 + Missense_Mutation SNP G G A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr17:39596834G>A uc002hwq.1 - 1 763 c.340C>T c.(340-342)CGC>TGC p.R114C NM_006771 NP_006762 O76015 KRT38_HUMAN keratin 38 114 Coil 1A.|Rod. intermediate filament structural molecule activity skin(2) 2 Breast(137;0.000496) TTGGCCAGGCGGTCATTCAGG 0.582 NA 20 71 0 0 0.008871 0 0 KRT13 3860 broad.mit.edu 37 17 39661464 39661464 + Silent SNP G G A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr17:39661464G>A uc002hwu.1 - 1 402 c.339C>T c.(337-339)GAC>GAT p.D113D KRT13_uc002hwv.1_Silent_p.D113D|KRT13_uc002hww.2_Silent_p.D6D|KRT13_uc010wfr.1_Silent_p.D6D|KRT13_uc010cxo.2_Silent_p.D113D|KRT13_uc002hwx.1_Silent_p.D101D NM_153490 NP_705694 P13646 K1C13_HUMAN keratin 13 isoform a 113 Coil 1A.|Rod. epidermis development intermediate filament structural molecule activity ovary(2)|skin(2)|pancreas(1) 5 Breast(137;0.000286) AAGCCAGGCGGTCGTTGAGGT 0.438 NA 19 78 0 0 0.008871 0 0 GFAP 2670 broad.mit.edu 37 17 42992462 42992462 + Silent SNP G G C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr17:42992462G>C uc002ihq.2 - 1 453 c.393C>G c.(391-393)ACC>ACG p.T131T GFAP_uc002ihr.2_Silent_p.T131T|GFAP_uc010wjg.1_RNA NM_002055 NP_002046 P14136 GFAP_HUMAN glial fibrillary acidic protein isoform 1 131 Rod.|Coil 1B. cytoplasm|intermediate filament structural constituent of cytoskeleton ovary(1)|pancreas(1) 2 Prostate(33;0.0959) CGCTGTTGGCGGTGAGTTGAT 0.652 NA 5 27 0 0 0.001168 0 0 PRR11 55771 broad.mit.edu 37 17 57275120 57275120 + Silent SNP G G A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr17:57275120G>A uc002ixf.1 + 9 1063 c.984G>A c.(982-984)GTG>GTA p.V328V PRR11_uc002ixg.1_RNA NM_018304 NP_060774 Q96HE9 PRR11_HUMAN proline rich 11 328 ovary(2) 2 Medulloblastoma(34;0.0922)|all_neural(34;0.101) TGACTCCAGTGATGACGCAGG 0.358 NA 6 63 0 0 0.00308 0 0 MED13 9969 broad.mit.edu 37 17 60042440 60042440 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr17:60042440C>A uc002izo.2 - 20 4848 c.4771G>T c.(4771-4773)GCT>TCT p.A1591S NM_005121 NP_005112 Q9UHV7 MED13_HUMAN mediator complex subunit 13 1591 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 large_intestine(1)|ovary(1) 2 GTCTGTAGAGCTGATGTCTGT 0.453 NA 9 34 1.12685e-05 1.53216e-05 0.004482 1 0 EFCAB3 146779 broad.mit.edu 37 17 60460396 60460396 + Missense_Mutation SNP C C G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr17:60460396C>G uc002izu.1 + 2 134 c.56C>G c.(55-57)CCC>CGC p.P19R EFCAB3_uc010wpc.1_Missense_Mutation_p.P71R NM_173503 NP_775774 Q8N7B9 EFCB3_HUMAN EF-hand calcium binding domain 3 isoform b 19 calcium ion binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(2;2.27e-11) ACAAAAGTACCCATCTCCCAC 0.274 NA 7 25 0 0 0.001984 0 0 MRC2 9902 broad.mit.edu 37 17 60749477 60749477 + Silent SNP G G C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr17:60749477G>C uc002jad.2 + 8 1827 c.1425G>C c.(1423-1425)CGG>CGC p.R475R MRC2_uc002jac.2_Silent_p.R475R NM_006039 NP_006030 Q9UBG0 MRC2_HUMAN mannose receptor, C type 2 475 Extracellular (Potential).|C-type lectin 2. endocytosis integral to membrane receptor activity|sugar binding ovary(1)|central_nervous_system(1)|skin(1) 3 ACAACTTCCGGGACAGTCTGG 0.572 NA 13 71 0 0 0.00245 0 0 SCN4A 6329 broad.mit.edu 37 17 62018249 62018249 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr17:62018249G>T uc002jds.1 - 24 5470 c.5393C>A c.(5392-5394)GCA>GAA p.A1798E NM_000334 NP_000325 P35499 SCN4A_HUMAN voltage-gated sodium channel type 4 alpha 1798 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(1)|pancreas(1)|skin(1) 3 Lamotrigine(DB00555) GGCGTCCCCTGCCTCGCCCTT 0.667 NA 13 20 9.05144e-12 1.58862e-11 0.001855 1 0 ABCA9 10350 broad.mit.edu 37 17 67022604 67022604 + Silent SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr17:67022604C>T uc002jhu.2 - 16 2198 c.2055G>A c.(2053-2055)AGG>AGA p.R685R ABCA9_uc010dez.2_Silent_p.R685R NM_080283 NP_525022 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A, member 9 685 ABC transporter 1. transport integral to membrane ATP binding|ATPase activity ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1) 6 Breast(10;1.47e-12) TGAACACCTTCCTGTCTAGTT 0.368 NA 5 114 0 0 0.000602 0 0 CD300E 342510 broad.mit.edu 37 17 72619802 72619802 + Splice_Site SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr17:72619802C>A uc002jlb.1 - 1 1 c.-40_splice c.e1-1 NM_181449 NP_852114 Q496F6 CLM2_HUMAN CD300e molecule precursor integral to membrane|plasma membrane receptor activity skin(2)|large_intestine(1)|ovary(1) 4 AATCTAGGTCCCAGCTGGAAT 0.502 NA 13 51 0.00010058 0.000125588 0.013537 1 0 RNF157 114804 broad.mit.edu 37 17 74158669 74158669 + Silent SNP A A G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr17:74158669A>G uc002jqz.2 - 9 825 c.756T>C c.(754-756)TAT>TAC p.Y252Y RNF157_uc002jra.2_Silent_p.Y252Y NM_052916 NP_443148 Q96PX1 RN157_HUMAN ring finger protein 157 252 zinc ion binding ovary(1) 1 LUSC - Lung squamous cell carcinoma(166;0.187) TTTCAATTCCATAGATCTCCT 0.443 GBM(186;507 2120 27388 27773 52994) NA 10 21 0 0 0.008291 0 0 FN3KRP 79672 broad.mit.edu 37 17 80684833 80684833 + Missense_Mutation SNP A A G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr17:80684833A>G uc002kfu.2 + 6 766 c.716A>G c.(715-717)TAC>TGC p.Y239C FN3KRP_uc010wvr.1_Missense_Mutation_p.Y189C NM_024619 NP_078895 Q9HA64 KT3K_HUMAN fructosamine 3 kinase related protein 239 kinase activity 0 Breast(20;0.000523)|all_neural(118;0.0952) BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061) GCTTCTTTCTACGGCCACTCG 0.562 NA 15 52 0 0 0.003163 0 0 ANKRD12 23253 broad.mit.edu 37 18 9254231 9254231 + Silent SNP A A T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr18:9254231A>T uc002knv.2 + 9 1223 c.966A>T c.(964-966)GTA>GTT p.V322V ANKRD12_uc002knw.2_Silent_p.V299V|ANKRD12_uc002knx.2_Silent_p.V299V|ANKRD12_uc010dkx.1_Silent_p.V29V NM_015208 NP_056023 Q6UB98 ANR12_HUMAN ankyrin repeat domain 12 isoform 1 322 nucleus ovary(2)|central_nervous_system(1) 3 CTCAATCTGTAAATCCTTCTA 0.338 NA 7 41 0 0 0.00308 0 0 FAM38B 63895 broad.mit.edu 37 18 10681740 10681740 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr18:10681740G>T uc002kor.3 - 9 1369 c.1229C>A c.(1228-1230)ACA>AAA p.T410K FAM38B_uc002koq.2_Missense_Mutation_p.T245K NM_022068 NP_071351 Q9H5I5 PIEZ2_HUMAN family with sequence similarity 38, member B 2453 integral to membrane ion channel activity ovary(1) 1 GGCACTCATTGTGAAAATAGG 0.388 NA 13 73 0.00185496 0.00213057 0.001855 1 0 DSG4 147409 broad.mit.edu 37 18 28986078 28986078 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr18:28986078C>A uc002kwq.2 + 12 1810 c.1675C>A c.(1675-1677)CCA>ACA p.P559T DSG4_uc002kwr.2_Missense_Mutation_p.P559T NM_177986 NP_817123 Q86SJ6 DSG4_HUMAN desmoglein 4 isoform 2 preproprotein 559 Extracellular (Potential). homophilic cell adhesion desmosome|integral to membrane calcium ion binding central_nervous_system(5)|ovary(3) 8 OV - Ovarian serous cystadenocarcinoma(10;0.00504) GGTTTTATCTCCAGGATTTTA 0.443 NA 5 25 0.000602214 0.000707037 0.000602 1 0 ASXL3 80816 broad.mit.edu 37 18 31319095 31319095 + Nonsense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr18:31319095C>A uc010dmg.1 + 11 1782 c.1727C>A c.(1726-1728)TCA>TAA p.S576* ASXL3_uc002kxq.2_Nonsense_Mutation_p.S283* NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 576 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 AAAACAGGGTCATCTTCTCTA 0.423 NA 6 13 3.59834e-05 4.69764e-05 0.001168 1 0 ASXL3 80816 broad.mit.edu 37 18 31324912 31324912 + Silent SNP T T A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr18:31324912T>A uc010dmg.1 + 12 5155 c.5100T>A c.(5098-5100)TCT>TCA p.S1700S ASXL3_uc002kxq.2_Silent_p.S1407S NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 1700 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 AGGGAGCCTCTAGTGTACAAC 0.527 NA 6 52 0 0 0.001984 0 0 DCC 1630 broad.mit.edu 37 18 50451740 50451740 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr18:50451740G>T uc002lfe.1 + 5 1572 c.985G>T c.(985-987)GTT>TTT p.V329F DCC_uc010xdr.1_Missense_Mutation_p.V177F NM_005215 NP_005206 P43146 DCC_HUMAN netrin receptor DCC precursor 329 Extracellular (Potential). 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) CACAGTCTTGGGTAAGTTAGT 0.373 NA 11 56 2.27111e-07 3.35306e-07 0.013537 1 0 RTTN 25914 broad.mit.edu 37 18 67794893 67794893 + Silent SNP G G A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr18:67794893G>A uc002lkp.2 - 25 3296 c.3228C>T c.(3226-3228)CTC>CTT p.L1076L RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Silent_p.L164L NM_173630 NP_775901 Q86VV8 RTTN_HUMAN rotatin 1076 binding ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1) 8 Esophageal squamous(42;0.129) CAATGGAATGGAGGCAGTCCT 0.438 NA 6 26 0 0 0.001984 0 0 NETO1 81832 broad.mit.edu 37 18 70461640 70461640 + Splice_Site SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr18:70461640C>A uc002lkw.2 - 5 754 c.470_splice c.e5-1 p.D157_splice NETO1_uc002lkx.1_Splice_Site_p.D156_splice|NETO1_uc002lky.1_Splice_Site_p.D157_splice NM_138966 NP_620416 Q8TDF5 NETO1_HUMAN neuropilin- and tolloid-like protein 1 isoform 3 memory|regulation of long-term neuronal synaptic plasticity|visual learning cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane receptor activity ovary(2)|skin(2) 4 Esophageal squamous(42;0.129) READ - Rectum adenocarcinoma(1;0.0487) AAGTCAGGATCTTAAAAATTG 0.294 NA 12 53 5.50884e-06 7.58016e-06 0.013537 1 0 TSHZ1 10194 broad.mit.edu 37 18 73000452 73000452 + Silent SNP G G A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr18:73000452G>A uc002lly.2 + 2 3518 c.2955G>A c.(2953-2955)GAG>GAA p.E985E NM_005786 NP_005777 Q6ZSZ6 TSH1_HUMAN teashirt family zinc finger 1 1030 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211) Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246) GGGCCACCGAGGAAGACTTGG 0.517 NA 11 48 0 0 0.010729 0 0 POLRMT 5442 broad.mit.edu 37 19 619717 619717 + Nonsense_Mutation SNP G G A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr19:619717G>A uc002lpf.1 - 13 2991 c.2935C>T c.(2935-2937)CAG>TAG p.Q979* NM_005035 NP_005026 O00411 RPOM_HUMAN mitochondrial DNA-directed RNA polymerase 979 Mediates interaction with TEFM. transcription initiation from mitochondrial promoter mitochondrial nucleoid DNA binding|DNA-directed RNA polymerase activity|protein binding ovary(1)|pancreas(1) 2 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TCCAGCACCTGTGCCACCCGC 0.687 NA 11 97 0 0 0.008291 0 0 ADAMTSL5 339366 broad.mit.edu 37 19 1507362 1507362 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr19:1507362C>A uc002ltd.2 - 9 1175 c.731G>T c.(730-732)TGG>TTG p.W244L ADAMTSL5_uc010dsl.2_Missense_Mutation_p.W13L|ADAMTSL5_uc010xgq.1_Missense_Mutation_p.W254L NM_213604 NP_998769 Q6ZMM2 ATL5_HUMAN ADAMTS-like 5 precursor 244 proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding 0 Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCTGACCACCCAGTGCCCATT 0.657 NA 10 28 2.17888e-05 2.89955e-05 0.006214 1 0 TMPRSS9 360200 broad.mit.edu 37 19 2389903 2389903 + Silent SNP C C G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr19:2389903C>G uc010xgx.1 + 1 120 c.120C>G c.(118-120)GTC>GTG p.V40V TMPRSS9_uc002lvv.1_Silent_p.V40V NM_182973 NP_892018 Q7Z410 TMPS9_HUMAN transmembrane protease, serine 9 40 Helical; Signal-anchor for type II membrane protein; (Potential). proteolysis integral to plasma membrane serine-type endopeptidase activity ovary(1)|central_nervous_system(1) 2 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCCTTGTCGTCCTCACCCTGG 0.592 NA 4 37 0 0 0.000602 0 0 FUT3 2525 broad.mit.edu 37 19 5844780 5844780 + Missense_Mutation SNP A A G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr19:5844780A>G uc002mdk.2 - 2 168 c.71T>C c.(70-72)CTG>CCG p.L24P FUT3_uc002mdm.2_Missense_Mutation_p.L24P|FUT3_uc002mdj.2_Missense_Mutation_p.L24P|FUT3_uc002mdl.2_Missense_Mutation_p.L24P|uc002mdn.2_5'Flank NM_001097641 NP_001091110 P21217 FUT3_HUMAN fucosyltransferase 3 24 Helical; Signal-anchor for type II membrane protein; (Potential). protein glycosylation Golgi cisterna membrane|integral to membrane|membrane fraction 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity 0 AGCCACCAGCAGCTGAAATAG 0.607 Esophageal Squamous(82;745 1728 24593 44831) NA 4 17 0 0 0.009096 0 0 CAPS 828 broad.mit.edu 37 19 5915067 5915067 + Silent SNP C C G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr19:5915067C>G uc002mdt.2 + 4 528 c.378C>G c.(376-378)GCC>GCG p.A126A CAPS_uc002mdu.2_Silent_p.A126A NM_004058 NP_004049 Q13938 CAYP1_HUMAN calcyphosine isoform a 126 EF-hand 3. intracellular signal transduction cytoplasm calcium ion binding 0 GTGGCCGTGCCCACCCCAAGG 0.677 NA 10 73 0 0 0.010729 0 0 TUBB4 10382 broad.mit.edu 37 19 6495189 6495189 + Missense_Mutation SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr19:6495189C>T uc002mfg.1 - 4 1428 c.1321G>A c.(1321-1323)GAG>AAG p.E441K TUBB4_uc002mff.1_Missense_Mutation_p.E369K|MIR220B_hsa-mir-220b|MI0005529_5'Flank NM_006087 NP_006078 P04350 TBB4_HUMAN tubulin, beta 4 441 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization cytosol|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity ovary(2) 2 Hepatocellular(1079;0.00213)|Renal(1328;0.0183) Lung(535;3.23e-05)|STAD - Stomach adenocarcinoma(1328;8.24e-05)|GBM - Glioblastoma multiforme(1328;0.00839)|READ - Rectum adenocarcinoma(264;0.155) GCCACCTCCTCCTCCGCCTCC 0.632 NA 10 46 0 0 0.006214 0 0 ADAMTS10 81794 broad.mit.edu 37 19 8651527 8651528 + Missense_Mutation DNP CC CC AG TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr19:8651527_8651528CC>AG uc002mkj.1 - 20 2591_2592 c.2317_2318GG>CT c.(2317-2319)GGG>CTG p.G773L ADAMTS10_uc002mki.1_Missense_Mutation_p.G260L|ADAMTS10_uc002mkk.1_Missense_Mutation_p.G405L NM_030957 NP_112219 Q9H324 ATS10_HUMAN ADAM metallopeptidase with thrombospondin type 1 773 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding pancreas(2)|skin(2) 4 AAAGGTGGTCCCAGCTAGAGGC 0.634 NA OREG0025221 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 66 0 0 0.004672 0 0 MUC16 94025 broad.mit.edu 37 19 9061767 9061767 + Missense_Mutation SNP G G C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr19:9061767G>C uc002mkp.2 - 3 25883 c.25679C>G c.(25678-25680)TCT>TGT p.S8560C NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 8562 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GGAAGAGACAGAGCTGGCTTC 0.502 NA 8 25 0 0 0.00308 0 0 MUC16 94025 broad.mit.edu 37 19 9088580 9088580 + Missense_Mutation SNP A A G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr19:9088580A>G uc002mkp.2 - 1 3439 c.3235T>C c.(3235-3237)TCA>CCA p.S1079P NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 1079 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 ACTGACATTGAGACACTTTCT 0.453 NA 4 45 0 0 0.009096 0 0 CACNA1A 773 broad.mit.edu 37 19 13423523 13423524 + Missense_Mutation DNP CG CG AA TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 CG CG - - CG CG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr19:13423523_13423524CG>AA uc010dze.2 - 12 1866_1867 c.1630_1631CG>TT c.(1630-1632)CGG>TTG p.R544L CACNA1A_uc010dzc.2_Missense_Mutation_p.R69L|CACNA1A_uc002mwy.3_Missense_Mutation_p.R543L|CACNA1A_uc010xne.1_Missense_Mutation_p.R69L NM_001127221 NP_001120693 O00555 CAC1A_HUMAN calcium channel, alpha 1A subunit isoform 3 544 Cytoplasmic (Potential).|II. cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding large_intestine(2) 2 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) GAAGTAAGGCCGCGTCCCAAGC 0.441 NA 15 41 0 0 0.004672 0 0 B3GNT3 10331 broad.mit.edu 37 19 17922725 17922725 + Nonsense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr19:17922725G>T uc002nhk.1 + 3 998 c.913G>T c.(913-915)GAG>TAG p.E305* B3GNT3_uc002nhl.1_Nonsense_Mutation_p.E305*|B3GNT3_uc010ebd.1_Nonsense_Mutation_p.E305*|B3GNT3_uc010ebe.1_Nonsense_Mutation_p.E305* NM_014256 NP_055071 Q9Y2A9 B3GN3_HUMAN UDP-GlcNAc:betaGal 305 Lumenal (Potential). protein glycosylation Golgi membrane|integral to plasma membrane galactosyltransferase activity upper_aerodigestive_tract(1) 1 TATGTGTCTGGAGCTTGAGGG 0.622 NA 32 86 1.02151e-06 1.45507e-06 0.013726 1 0 PDE4C 5143 broad.mit.edu 37 19 18332994 18332994 + Missense_Mutation SNP A A G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr19:18332994A>G uc010xqc.1 - 2 862 c.382T>C c.(382-384)TAT>CAT p.Y128H PDE4C_uc002nik.3_Missense_Mutation_p.Y128H|PDE4C_uc002nil.3_Missense_Mutation_p.Y128H|PDE4C_uc002nif.3_5'Flank|PDE4C_uc002nig.3_5'Flank|PDE4C_uc002nih.3_5'Flank|PDE4C_uc010ebk.2_Missense_Mutation_p.Y22H|PDE4C_uc002nii.3_Missense_Mutation_p.Y96H|PDE4C_uc010ebl.2_5'UTR|PDE4C_uc010xqd.1_5'UTR|PDE4C_uc010ebm.1_5'Flank|PDE4C_uc002nim.1_Missense_Mutation_p.Y128H NM_001098819 NP_001092289 Q08493 PDE4C_HUMAN phosphodiesterase 4C isoform PDE4C-2 128 signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding ovary(2)|skin(2)|central_nervous_system(1) 5 Dyphylline(DB00651) GAGAGTTCATAGTCGCTATCT 0.642 NA 4 23 0 0 0.009096 0 0 NCAN 1463 broad.mit.edu 37 19 19344651 19344651 + Missense_Mutation SNP G G C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr19:19344651G>C uc002nlz.2 + 9 3172 c.3073G>C c.(3073-3075)GCC>CCC p.A1025P NCAN_uc010ecc.1_Missense_Mutation_p.A589P NM_004386 NP_004377 O14594 NCAN_HUMAN chondroitin sulfate proteoglycan 3 precursor 1025 EGF-like 1. axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding ovary(4) 4 Epithelial(12;0.00544) GACATGTAATGCCAATGGCAC 0.463 NA 18 40 0 0 0.010504 0 0 ZNF536 9745 broad.mit.edu 37 19 30934612 30934612 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr19:30934612C>A uc002nsu.1 + 2 281 c.143C>A c.(142-144)CCC>CAC p.P48H ZNF536_uc010edd.1_Missense_Mutation_p.P48H NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 48 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) CATGCCTTCCCCGAGCTCCAT 0.667 NA 19 65 5.35267e-07 7.83539e-07 0.007413 1 0 ZNF536 9745 broad.mit.edu 37 19 31040321 31040321 + Silent SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr19:31040321G>T uc002nsu.1 + 4 3933 c.3795G>T c.(3793-3795)CTG>CTT p.L1265L ZNF536_uc010edd.1_Silent_p.L1265L NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 1265 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) TGAACATGCTGTCGGTCCTCA 0.587 NA 11 14 6.40141e-05 8.171e-05 0.010729 1 0 TSHZ3 57616 broad.mit.edu 37 19 31770507 31770507 + Silent SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr19:31770507G>T uc002nsy.3 - 2 257 c.192C>A c.(190-192)GCC>GCA p.A64A NM_020856 NP_065907 Q63HK5 TSH3_HUMAN zinc finger protein 537 64 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(2)|pancreas(1)|lung(1) 8 Esophageal squamous(110;0.226) AAAACTCGGCGGCCGGGGAGT 0.592 NA 4 20 0.00909568 0.00988598 0.009096 1 0 KIRREL2 84063 broad.mit.edu 37 19 36350480 36350480 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr19:36350480G>T uc002ocb.3 + 5 832 c.620G>T c.(619-621)CGG>CTG p.R207L KIRREL2_uc002obz.3_Missense_Mutation_p.R207L|KIRREL2_uc002oca.3_Missense_Mutation_p.R157L|KIRREL2_uc002occ.3_Missense_Mutation_p.R154L|KIRREL2_uc002ocd.3_Missense_Mutation_p.R204L NM_199180 NP_954649 Q6UWL6 KIRR2_HUMAN kin of IRRE-like 2 isoform c 207 Ig-like C2-type 2.|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) TGCCGGGCCCGGAGCCAGGCC 0.627 NA 11 60 1.08611e-07 1.63869e-07 0.010729 1 0 CLIP3 25999 broad.mit.edu 37 19 36508345 36508345 + Nonsense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr19:36508345C>A uc010eeq.1 - 11 1741 c.1459G>T c.(1459-1461)GGA>TGA p.G487* uc002ocy.2_Intron|CLIP3_uc002ocz.1_Nonsense_Mutation_p.G487* NM_015526 NP_056341 Q96DZ5 CLIP3_HUMAN CAP-GLY domain containing linker protein 3 487 chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane ganglioside binding|microtubule binding ovary(2)|pancreas(1)|skin(1) 4 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) TCAGTGGATCCGCCAATCCTG 0.567 NA 13 45 1.05317e-09 1.71296e-09 0.00245 1 0 ZNF260 339324 broad.mit.edu 37 19 37005059 37005059 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr19:37005059C>A uc002oee.1 - 4 1926 c.1082G>T c.(1081-1083)GGT>GTT p.G361V ZNF260_uc002oed.1_Missense_Mutation_p.G358V|ZNF260_uc010eey.1_Missense_Mutation_p.G358V|ZNF260_uc002oef.1_Missense_Mutation_p.G358V NM_001012756 NP_001012774 Q3ZCT1 ZN260_HUMAN zinc finger protein 260 361 C2H2-type 12. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(110;0.162) TTCATTACAACCATAGGGTTT 0.438 NA 13 53 0.000219431 0.000269587 0.00245 1 0 ZNF585A 199704 broad.mit.edu 37 19 37644496 37644496 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr19:37644496C>A uc002ofo.1 - 5 536 c.305G>T c.(304-306)TGG>TTG p.W102L ZNF585A_uc002ofm.1_Missense_Mutation_p.W47L|ZNF585A_uc002ofn.1_Missense_Mutation_p.W47L NM_199126 NP_954577 Q6P3V2 Z585A_HUMAN zinc finger protein 585A 102 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) ATTATGGTCCCATAATTTCTC 0.313 NA 12 73 3.07112e-06 4.26854e-06 0.010729 1 0 RYR1 6261 broad.mit.edu 37 19 38984999 38984999 + Silent SNP G G A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr19:38984999G>A uc002oit.2 + 39 6412 c.6282G>A c.(6280-6282)CTG>CTA p.L2094L RYR1_uc002oiu.2_Silent_p.L2094L|RYR1_uc002oiv.1_5'Flank NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 2094 Cytoplasmic.|6 X approximate repeats. 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) CAGGGTCCCTGCAGGAGCTGG 0.647 NA 9 30 0 0 0.006214 0 0 CD177 57126 broad.mit.edu 37 19 43858498 43858498 + Silent SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr19:43858498C>T uc002owi.2 + 3 375 c.333C>T c.(331-333)AAC>AAT p.N111N CD177_uc010eis.2_RNA|CD177_uc002owj.2_RNA NM_020406 NP_065139 Q8N6Q3 CD177_HUMAN CD177 molecule precursor 111 blood coagulation|leukocyte migration anchored to membrane|plasma membrane central_nervous_system(1) 1 Prostate(69;0.00682) ACTTCTGCAACAACCTCGTTA 0.672 NA 4 49 0 0 0.009096 0 0 CBLC 23624 broad.mit.edu 37 19 45295768 45295768 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr19:45295768G>T uc002ozs.2 + 7 1197 c.1134G>T c.(1132-1134)TGG>TGT p.W378C CBLC_uc010ejt.2_Missense_Mutation_p.W332C NM_012116 NP_036248 Q9ULV8 CBLC_HUMAN Cas-Br-M (murine) ecotropic retroviral 378 RING-type. cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(1)|skin(1) 6 Lung NSC(12;0.00136)|all_lung(12;0.00371) Ovarian(192;0.231) TGGCTGCCTGGCAGGTGGGTC 0.577 NA M AML 4 42 0.00909568 0.00988598 0.009096 1 0 SIGLEC9 27180 broad.mit.edu 37 19 51628303 51628303 + Silent SNP G G A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr19:51628303G>A uc002pvu.2 + 1 139 c.72G>A c.(70-72)ACG>ACA p.T24T SIGLEC9_uc010yct.1_Silent_p.T24T NM_014441 NP_055256 Q9Y336 SIGL9_HUMAN sialic acid binding Ig-like lectin 9 precursor 24 Extracellular (Potential).|Ig-like V-type. cell adhesion|cell surface receptor linked signaling pathway integral to plasma membrane sugar binding skin(1) 1 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295) AACTGCTGACGATGCAGAGTT 0.617 NA 8 27 0 0 0.00308 0 0 SIGLEC9 27180 broad.mit.edu 37 19 51629378 51629378 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr19:51629378C>A uc002pvu.2 + 3 808 c.741C>A c.(739-741)GAC>GAA p.D247E SIGLEC9_uc010yct.1_Missense_Mutation_p.D247E NM_014441 NP_055256 Q9Y336 SIGL9_HUMAN sialic acid binding Ig-like lectin 9 precursor 247 Extracellular (Potential).|Ig-like C2-type 2. cell adhesion|cell surface receptor linked signaling pathway integral to plasma membrane sugar binding skin(1) 1 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295) TCCAAGGAGACGGCACAGGTA 0.597 NA 9 36 1.33987e-11 2.34563e-11 0.008291 1 0 SIGLEC6 946 broad.mit.edu 37 19 52034735 52034735 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr19:52034735G>T uc002pwy.2 - 2 268 c.106C>A c.(106-108)CCA>ACA p.P36T SIGLEC6_uc002pwz.2_Missense_Mutation_p.P36T|SIGLEC6_uc002pxa.2_Missense_Mutation_p.P36T|SIGLEC6_uc010ydb.1_Intron|SIGLEC6_uc010ydc.1_Missense_Mutation_p.P25T|SIGLEC6_uc010eoz.1_Missense_Mutation_p.P25T|SIGLEC6_uc010epb.1_Intron|SIGLEC6_uc010epa.1_Missense_Mutation_p.P25T NM_001245 NP_001236 O43699 SIGL6_HUMAN sialic acid binding Ig-like lectin 6 isoform 1 36 Extracellular (Potential).|Ig-like V-type. cell adhesion|cell-cell signaling cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus ovary(1) 1 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165) AGTGACTCTGGCCCCTCCAGC 0.632 NA 8 41 0.000274275 0.000331637 0.004482 1 0 VN1R4 317703 broad.mit.edu 37 19 53770558 53770558 + Nonsense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr19:53770558C>A uc010ydu.1 - 1 361 c.361G>T c.(361-363)GAG>TAG p.E121* NM_173857 NP_776256 Q7Z5H5 VN1R4_HUMAN vomeronasal 1 receptor 4 121 Cytoplasmic (Potential). response to pheromone actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane pheromone receptor activity ovary(2) 2 GBM - Glioblastoma multiforme(134;0.00294) GGGGCTTTCTCTTTAAGTTTT 0.502 NA HNSCC(26;0.072) 6 29 5.9392e-07 8.56639e-07 0.001168 1 0 VN1R4 317703 broad.mit.edu 37 19 53770573 53770573 + Missense_Mutation SNP A A T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr19:53770573A>T uc010ydu.1 - 1 346 c.346T>A c.(346-348)TGG>AGG p.W116R NM_173857 NP_776256 Q7Z5H5 VN1R4_HUMAN vomeronasal 1 receptor 4 116 Cytoplasmic (Potential). response to pheromone actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane pheromone receptor activity ovary(2) 2 GBM - Glioblastoma multiforme(134;0.00294) AGTTTTGCCCACCTGGATTTC 0.493 NA HNSCC(26;0.072) 4 34 0 0 0.000602 0 0 ZNF525 170958 broad.mit.edu 37 19 53879127 53879127 + Silent SNP T T C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr19:53879127T>C uc010eqn.2 + 3 205 c.12T>C c.(10-12)AAT>AAC p.N4N ZNF525_uc002qbl.2_RNA|ZNF765_uc010ydx.1_5'UTR NR_003699 Homo sapiens cDNA FLJ39718 fis, clone SMINT2013695. 0 TGCTGGAGAATTATAGGAACC 0.428 NA 4 106 0 0 0.000602 0 0 NLRP12 91662 broad.mit.edu 37 19 54313203 54313203 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr19:54313203C>A uc002qch.3 - 3 1930 c.1710G>T c.(1708-1710)GAG>GAT p.E570D NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Missense_Mutation_p.E570D|NLRP12_uc002qcj.3_Missense_Mutation_p.E570D|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.E570D NM_144687 NP_653288 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 isoform 570 negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding ovary(4)|upper_aerodigestive_tract(2)|lung(1) 7 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) GGCTCCTGGTCTCCTCGTTCA 0.572 NA 14 74 1.52009e-12 2.70238e-12 0.003163 1 0 LILRA1 11024 broad.mit.edu 37 19 55105928 55105928 + Silent SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr19:55105928C>A uc002qgh.1 + 3 239 c.57C>A c.(55-57)ACC>ACA p.T19T LILRA2_uc010yfg.1_Intron|LILRA1_uc010yfh.1_Silent_p.T19T NM_006863 NP_006854 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, 19 Extracellular (Potential). cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity skin(2)|ovary(1) 3 GBM - Glioblastoma multiforme(193;0.0348) GCCCCCGGACCCACGTGCAGG 0.657 NA 25 56 9.80776e-20 1.90077e-19 0.00632 1 0 KIR2DL1 3802 broad.mit.edu 37 19 55294936 55294936 + Splice_Site SNP A A T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr19:55294936A>T uc002qhb.1 + 7 856 c.818_splice c.e7-2 p.N273_splice KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR2DL4_uc010yfl.1_5'Flank|KIR2DL3_uc010erw.1_Splice_Site_p.N274_splice|KIR2DL1_uc002qgz.1_Splice_Site_p.N183_splice|KIR3DP1_uc010yfi.1_Intron|KIR2DL1_uc010erz.1_Splice_Site_p.N299_splice NM_014218 NP_055033 P43626 KI2L1_HUMAN killer cell immunoglobulin-like receptor, two immune response|natural killer cell inhibitory signaling pathway integral to plasma membrane protein binding|receptor activity 0 GBM - Glioblastoma multiforme(193;0.0192) CATCTTCTACAGATGCTGCGG 0.522 GBM(72;624 1217 3963 34152 38303) NA 10 65 0 0 0.010729 0 0 KIR2DS4 3809 broad.mit.edu 37 19 55354358 55354358 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr19:55354358C>A uc002qhm.1 + 6 746 c.700C>A c.(700-702)CCA>ACA p.P234T KIR2DS4_uc010yfk.1_RNA|KIR3DL1_uc002qhl.3_Intron|KIR2DS4_uc010esg.1_Intron|KIR2DS4_uc002qhn.1_Intron NM_012314 NP_036446 P43632 KI2S4_HUMAN killer cell immunoglobulin-like receptor, two 234 Extracellular (Potential). integral to plasma membrane receptor activity 0 GBM - Glioblastoma multiforme(193;0.0192) ACCCACTGAACCAAGCTCCAA 0.498 NA 37 171 1.02591e-13 1.88219e-13 0.010771 1 0 NLRP7 199713 broad.mit.edu 37 19 55450411 55450411 + Missense_Mutation SNP C C G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr19:55450411C>G uc002qih.3 - 4 1852 c.1776G>C c.(1774-1776)AAG>AAC p.K592N NLRP7_uc002qig.3_Missense_Mutation_p.K592N|NLRP7_uc002qii.3_Missense_Mutation_p.K592N|NLRP7_uc010esk.2_Missense_Mutation_p.K592N|NLRP7_uc010esl.2_Missense_Mutation_p.K620N NM_206828 NP_996611 Q8WX94 NALP7_HUMAN NACHT, leucine rich repeat and PYD containing 7 592 ATP binding large_intestine(1)|breast(1)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(193;0.0325) TAGAAATTTCCTTGAACGGGG 0.498 NA 7 38 0 0 0.001984 0 0 NLRP7 199713 broad.mit.edu 37 19 55450426 55450426 + Silent SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr19:55450426C>A uc002qih.3 - 4 1837 c.1761G>T c.(1759-1761)GTG>GTT p.V587V NLRP7_uc002qig.3_Silent_p.V587V|NLRP7_uc002qii.3_Silent_p.V587V|NLRP7_uc010esk.2_Silent_p.V587V|NLRP7_uc010esl.2_Silent_p.V615V NM_206828 NP_996611 Q8WX94 NALP7_HUMAN NACHT, leucine rich repeat and PYD containing 7 587 ATP binding large_intestine(1)|breast(1)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(193;0.0325) ACGGGGCCACCACCACCTTCG 0.488 NA 9 40 0.000274275 0.000331637 0.004482 1 0 UBE2S 27338 broad.mit.edu 37 19 55912895 55912895 + Missense_Mutation SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr19:55912895C>T uc002qkx.1 - 4 946 c.578G>A c.(577-579)GGT>GAT p.G193D NM_014501 NP_055316 Q16763 UBE2S_HUMAN ubiquitin-conjugating enzyme E2S 193 activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|exit from mitosis|free ubiquitin chain polymerization|protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination anaphase-promoting complex ATP binding|ubiquitin-protein ligase activity 0 Breast(117;0.155) LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.11) GGCCATGGGACCCTCAGCCCC 0.701 NA 5 32 0 0 0.000602 0 0 NLRP13 126204 broad.mit.edu 37 19 56413443 56413443 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr19:56413443C>A uc010ygg.1 - 9 2772 c.2747G>T c.(2746-2748)TGT>TTT p.C916F NM_176810 NP_789780 Q86W25 NAL13_HUMAN NACHT, leucine rich repeat and PYD containing 916 LRR 4. ATP binding skin(4)|ovary(3)|pancreas(1)|lung(1) 9 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) CAAGGCCTCACACAGGAACTT 0.542 NA 7 34 1.26484e-09 2.04756e-09 0.00308 1 0 PEG3 5178 broad.mit.edu 37 19 57328461 57328461 + Missense_Mutation SNP A A T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr19:57328461A>T uc002qnu.2 - 7 1700 c.1349T>A c.(1348-1350)ATG>AAG p.M450K ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.M421K|PEG3_uc002qnv.2_Missense_Mutation_p.M450K|PEG3_uc002qnw.2_Missense_Mutation_p.M326K|PEG3_uc002qnx.2_Missense_Mutation_p.M324K|PEG3_uc010etr.2_Missense_Mutation_p.M450K NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 450 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) TACATATGGCATTGCCCCAAA 0.483 NA 19 95 0 0 0.007413 0 0 ZNF324B 388569 broad.mit.edu 37 19 58965140 58965140 + Silent SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr19:58965140C>T uc002qsv.1 + 2 179 c.72C>T c.(70-72)GCC>GCT p.A24A ZNF324B_uc002qsu.1_5'UTR|ZNF324B_uc010euq.1_Silent_p.A24A NM_207395 NP_997278 Q6AW86 Z324B_HUMAN zinc finger protein 324B 24 KRAB. 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) CGCAGAGGGCCCTGTACCGCC 0.572 NA 9 55 0 0 0.004482 0 0 NCOA1 8648 broad.mit.edu 37 2 24888641 24888641 + Missense_Mutation SNP A A G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr2:24888641A>G uc002rfk.2 + 4 371 c.113A>G c.(112-114)CAA>CGA p.Q38R NCOA1_uc010eye.2_Missense_Mutation_p.Q38R|NCOA1_uc002rfi.2_Intron|NCOA1_uc002rfj.2_Missense_Mutation_p.Q38R|NCOA1_uc002rfl.2_Missense_Mutation_p.Q38R NM_003743 NP_003734 Q15788 NCOA1_HUMAN nuclear receptor coactivator 1 isoform 1 38 Helix-loop-helix motif. PAX3/NCOA1(8) soft_tissue(8)|ovary(1)|lung(1)|skin(1) 11 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CGCAGGGAGCAAGAAAATAAA 0.373 NA T PAX3 alveolar rhadomyosarcoma 6 31 0 0 0.001168 0 0 VIT 5212 broad.mit.edu 37 2 37036038 37036038 + Nonsense_Mutation SNP A A T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr2:37036038A>T uc002rpl.2 + 15 2034 c.1813A>T c.(1813-1815)AAG>TAG p.K605* VIT_uc002rpm.2_Nonsense_Mutation_p.K583*|VIT_uc010ezv.2_Nonsense_Mutation_p.K561*|VIT_uc010ezw.2_Nonsense_Mutation_p.K562* NM_053276 NP_444506 Q6UXI7 VITRN_HUMAN vitrin 590 VWFA 2. proteinaceous extracellular matrix ovary(1)|pancreas(1) 2 all_hematologic(82;0.248) CAAGAAGTCCAAGCCCAACAA 0.587 NA 6 32 0 0 0.001168 0 0 ABCG8 64241 broad.mit.edu 37 2 44100965 44100965 + Silent SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr2:44100965C>A uc002rtq.2 + 9 1341 c.1251C>A c.(1249-1251)CTC>CTA p.L417L ABCG8_uc010yoa.1_Silent_p.L416L NM_022437 NP_071882 Q9H221 ABCG8_HUMAN ATP-binding cassette sub-family G member 8 417 Helical; Name=1; (Potential).|ABC transmembrane type-2. cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity skin(3)|ovary(1) 4 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) TGCCCACCCTCCTCATCCATG 0.483 NA 14 133 4.3838e-07 6.43082e-07 0.001855 1 0 PSME4 23198 broad.mit.edu 37 2 54147481 54147481 + Missense_Mutation SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr2:54147481C>T uc002rxp.2 - 19 2325 c.2269G>A c.(2269-2271)GGC>AGC p.G757S PSME4_uc010yop.1_Missense_Mutation_p.G643S|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_Missense_Mutation_p.G132S|PSME4_uc010fbv.1_Intron NM_014614 NP_055429 Q14997 PSME4_HUMAN proteasome (prosome, macropain) activator 757 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction nuclear speck|proteasome complex binding ovary(2)|breast(2)|pancreas(1) 5 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) CCGGGTTTGCCCCAGTCCTAG 0.393 NA 10 55 0 0 0.010729 0 0 DYSF 8291 broad.mit.edu 37 2 71780291 71780291 + Missense_Mutation SNP A A T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr2:71780291A>T uc002sie.2 + 20 2279 c.1903A>T c.(1903-1905)ACT>TCT p.T635S DYSF_uc010feg.2_Missense_Mutation_p.T666S|DYSF_uc010feh.2_Missense_Mutation_p.T621S|DYSF_uc002sig.3_Missense_Mutation_p.T621S|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.T635S|DYSF_uc010fef.2_Missense_Mutation_p.T652S|DYSF_uc010fei.2_Missense_Mutation_p.T652S|DYSF_uc010fek.2_Missense_Mutation_p.T653S|DYSF_uc010fej.2_Missense_Mutation_p.T622S|DYSF_uc010fel.2_Missense_Mutation_p.T622S|DYSF_uc010feo.2_Missense_Mutation_p.T667S|DYSF_uc010fem.2_Missense_Mutation_p.T636S|DYSF_uc010fen.2_Missense_Mutation_p.T653S|DYSF_uc002sif.2_Missense_Mutation_p.T636S NM_003494 NP_003485 O75923 DYSF_HUMAN dysferlin isoform 8 635 Cytoplasmic (Potential). cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding ovary(3)|breast(2)|pancreas(1)|skin(1) 7 GGCCTCCACCACTCAGTACAG 0.587 NA 9 45 0 0 0.010729 0 0 CTNNA2 1496 broad.mit.edu 37 2 80801338 80801338 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr2:80801338G>T uc010ysh.1 + 12 1797 c.1792G>T c.(1792-1794)GCC>TCC p.A598S CTNNA2_uc010yse.1_Missense_Mutation_p.A598S|CTNNA2_uc010ysf.1_Missense_Mutation_p.A598S|CTNNA2_uc010ysg.1_Missense_Mutation_p.A598S|CTNNA2_uc010ysi.1_Missense_Mutation_p.A230S NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 598 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton pancreas(4)|lung(3)|breast(1)|skin(1) 9 AGCCCTGAGTGCCAACGTTCC 0.488 NA 22 67 1.5548e-18 2.97967e-18 0.005443 1 0 TEKT4 150483 broad.mit.edu 37 2 95537426 95537426 + Silent SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr2:95537426C>T uc002stw.1 + 1 195 c.102C>T c.(100-102)TTC>TTT p.F34F uc002stv.1_Intron|TEKT4_uc010fhr.1_RNA NM_144705 NP_653306 Q8WW24 TEKT4_HUMAN tektin 4 34 cell projection organization|microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule ovary(1)|breast(1)|skin(1) 3 CCGCCAGCTTCCGCACCTCCA 0.677 NA 6 31 0 0 0.001168 0 0 VWA3B 200403 broad.mit.edu 37 2 98732176 98732176 + Missense_Mutation SNP G G C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr2:98732176G>C uc002syo.2 + 3 522 c.258G>C c.(256-258)CAG>CAC p.Q86H VWA3B_uc010yvh.1_Missense_Mutation_p.S20T|VWA3B_uc002syj.2_RNA|VWA3B_uc002syk.1_RNA|VWA3B_uc002syl.1_5'UTR|VWA3B_uc002sym.2_Missense_Mutation_p.Q86H|VWA3B_uc002syn.1_RNA NM_144992 NP_659429 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 86 ovary(3)|large_intestine(2)|skin(1) 6 TGTTTCCACAGCTCTACAGAG 0.458 NA 3 23 0 0 0.004672 0 0 AFF3 3899 broad.mit.edu 37 2 100210181 100210181 + Missense_Mutation SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr2:100210181C>T uc002tag.2 - 14 2178 c.1942G>A c.(1942-1944)GAG>AAG p.E648K AFF3_uc002taf.2_Missense_Mutation_p.E673K|AFF3_uc010fiq.1_Missense_Mutation_p.E648K|AFF3_uc010yvr.1_Missense_Mutation_p.E801K|AFF3_uc002tah.1_Missense_Mutation_p.E673K NM_002285 NP_002276 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 isoform 1 648 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1) 6 CGGCGCTTCTCGCAGGTCACG 0.637 NA 6 41 0 0 0.001984 0 0 ANAPC1 64682 broad.mit.edu 37 2 112588917 112588917 + Missense_Mutation SNP C C A rs149309834 by1000genomes TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr2:112588917C>A uc002thi.2 - 21 2818 c.2571G>T c.(2569-2571)ATG>ATT p.M857I NM_022662 NP_073153 Q9H1A4 APC1_HUMAN anaphase promoting complex subunit 1 857 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm skin(2) 2 GATAAGGTGGCATTCCTTCAC 0.393 NA 3 34 0.004672 0.00515945 0.004672 1 0 YSK4 80122 broad.mit.edu 37 2 135779284 135779284 + Splice_Site SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr2:135779284C>A uc002tue.1 - 2 169 c.138_splice c.e2+1 p.E46_splice YSK4_uc010fne.1_Splice_Site_p.E18_splice|YSK4_uc002tuf.1_Splice_Site_p.E46_splice|YSK4_uc010fnc.1_Splice_Site_p.E46_splice|YSK4_uc010fnd.1_Splice_Site_p.E46_splice|YSK4_uc010zbg.1_Splice_Site_p.E46_splice|YSK4_uc002tui.3_Splice_Site_p.E63_splice NM_025052 NP_079328 Q56UN5 YSK4_HUMAN Yeast Sps1/Ste20-related kinase 4 isoform 1 ATP binding|protein serine/threonine kinase activity stomach(2)|urinary_tract(1)|ovary(1)|breast(1) 5 BRCA - Breast invasive adenocarcinoma(221;0.112) GAGGCTCTTACCTCACTTCTG 0.348 NA 8 20 0.00307968 0.00347347 0.00308 1 0 LRP1B 53353 broad.mit.edu 37 2 140995780 140995780 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr2:140995780C>A uc002tvj.1 - 89 14473 c.13501G>T c.(13501-13503)GAT>TAT p.D4501Y NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 4501 Cytoplasmic (Potential). protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TGATCATGATCTACCTCATAC 0.348 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 6 35 8.12818e-05 0.000102047 0.001984 1 0 LRP1B 53353 broad.mit.edu 37 2 141625316 141625316 + Silent SNP A A T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr2:141625316A>T uc002tvj.1 - 27 5394 c.4422T>A c.(4420-4422)GCT>GCA p.A1474A LRP1B_uc010fnl.1_Silent_p.A656A NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 1474 Extracellular (Potential).|LDL-receptor class B 12. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ATAGAGACACAGCAAAGGGAT 0.433 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 7 69 0 0 0.001984 0 0 LRP1B 53353 broad.mit.edu 37 2 141751612 141751612 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr2:141751612C>A uc002tvj.1 - 16 3568 c.2596G>T c.(2596-2598)GGC>TGC p.G866C LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 866 Extracellular (Potential).|LDL-receptor class A 3. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding p.G866G(1) lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TCATCGTCGCCATCACATTTC 0.433 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 6 37 0.00116845 0.00134655 0.001168 1 0 ZEB2 9839 broad.mit.edu 37 2 145158817 145158817 + Nonsense_Mutation SNP T T A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr2:145158817T>A uc002tvu.2 - 7 1345 c.865A>T c.(865-867)AAG>TAG p.K289* ZEB2_uc002tvv.2_Nonsense_Mutation_p.K283*|ZEB2_uc010zbm.1_Nonsense_Mutation_p.K260*|ZEB2_uc010fnp.2_Nonsense_Mutation_p.K197*|ZEB2_uc010fnq.1_Nonsense_Mutation_p.K318* NM_014795 NP_055610 O60315 ZEB2_HUMAN zinc finger homeobox 1b 289 C2H2-type 3. cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1) 9 BRCA - Breast invasive adenocarcinoma(221;0.112) TTGAAGGCCTTGCCACACTCT 0.438 Melanoma(33;1235 1264 5755 16332) NA 16 71 0 0 0.007413 0 0 SLC4A10 57282 broad.mit.edu 37 2 162735744 162735744 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr2:162735744G>T uc002ubx.3 + 9 1236 c.1052G>T c.(1051-1053)AGG>ATG p.R351M SLC4A10_uc010fpa.1_Missense_Mutation_p.R363M|SLC4A10_uc010zcr.1_RNA|SLC4A10_uc002uby.3_Missense_Mutation_p.R321M|SLC4A10_uc010zcs.1_Missense_Mutation_p.R332M NM_022058 NP_071341 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate 351 Cytoplasmic (Potential). bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity ovary(2)|lung(2)|pancreas(1) 5 GCGTTTGTCAGGTTGTCTCCA 0.413 NA 15 66 1.37285e-15 2.58773e-15 0.004007 1 0 SCN1A 6323 broad.mit.edu 37 2 166892600 166892600 + Silent SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr2:166892600C>T uc010zcz.1 - 16 3372 c.3354G>A c.(3352-3354)ACG>ACA p.T1118T SCN1A_uc002udo.3_Silent_p.T998T|SCN1A_uc010fpk.2_Silent_p.T970T NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 1129 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) TAAAGTCTTCCGTGTTTAAAT 0.318 NA 20 57 0 0 0.010504 0 0 HAT1 8520 broad.mit.edu 37 2 172844191 172844191 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr2:172844191G>T uc002uhi.2 + 10 1083 c.1007G>T c.(1006-1008)CGA>CTA p.R336L HAT1_uc010fqi.2_Missense_Mutation_p.R171L|HAT1_uc002uhj.2_Missense_Mutation_p.R251L NM_003642 NP_003633 O14929 HAT1_HUMAN histone acetyltransferase 1 336 chromatin silencing at telomere|DNA packaging cytoplasm|nuclear matrix|nucleoplasm histone acetyltransferase activity|protein binding large_intestine(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.216) GAAATTCTTCGACTACTGGTA 0.353 NA 12 55 7.03913e-09 1.10569e-08 0.013537 1 0 SP3 6670 broad.mit.edu 37 2 174820498 174820498 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr2:174820498C>A uc002uig.2 - 4 906 c.742G>T c.(742-744)GGT>TGT p.G248C SP3_uc002uie.2_Missense_Mutation_p.G180C|SP3_uc002uif.2_Missense_Mutation_p.G195C|SP3_uc010zel.1_Missense_Mutation_p.G245C NM_003111 NP_003102 Q02447 SP3_HUMAN Sp3 transcription factor isoform 1 248 negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent PML body protein binding|zinc ion binding EWSR1/SP3(3) soft_tissue(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.185) TGGGTTTGACCAGGAAAAGAT 0.458 NA 9 58 0.00621372 0.00680738 0.006214 1 0 TTN 7273 broad.mit.edu 37 2 179464146 179464146 + Missense_Mutation SNP T T G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr2:179464146T>G uc010zfg.1 - 239 48894 c.48670A>C c.(48670-48672)ATA>CTA p.I16224L uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.I9919L|TTN_uc010zfi.1_Missense_Mutation_p.I9852L|TTN_uc010zfj.1_Missense_Mutation_p.I9727L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 17151 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCAAATTTTATGGGTCCCACT 0.363 NA 12 32 0 0 0.010729 0 0 TTN 7273 broad.mit.edu 37 2 179567254 179567254 + Missense_Mutation SNP G G C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr2:179567254G>C uc010zfg.1 - 104 26852 c.26628C>G c.(26626-26628)AGC>AGG p.S8876R TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S5537R|TTN_uc010fre.1_5'UTR NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 9803 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGTATTTCTGGCTCTCTGTCA 0.458 NA 5 173 0 0 0.001168 0 0 COL3A1 1281 broad.mit.edu 37 2 189859478 189859478 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr2:189859478G>T uc002uqj.1 + 20 1493 c.1376G>T c.(1375-1377)GGA>GTA p.G459V NM_000090 NP_000081 P02461 CO3A1_HUMAN collagen type III alpha 1 preproprotein 459 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding central_nervous_system(7)|ovary(4)|large_intestine(2) 13 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) GGTGTTCCAGGAGCTAAAGGC 0.433 NA 5 33 0.00116845 0.00134655 0.001168 1 0 BOLL 66037 broad.mit.edu 37 2 198643703 198643703 + Missense_Mutation SNP T T C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr2:198643703T>C uc002uus.2 - 3 527 c.217A>G c.(217-219)AAA>GAA p.K73E BOLL_uc002uur.2_Missense_Mutation_p.K79E|BOLL_uc002uut.2_Missense_Mutation_p.K85E|BOLL_uc010zha.1_Silent_p.P7P|BOLL_uc002uuu.1_Missense_Mutation_p.K79E NM_033030 NP_149019 Q8N9W6 BOLL_HUMAN boule isoform 2 73 RRM. cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis cytoplasm nucleotide binding|protein binding|RNA binding|translation activator activity ovary(2) 2 ACTAACCCTTTGGATACTCCA 0.353 NA 6 26 0 0 0.001984 0 0 PLCL1 5334 broad.mit.edu 37 2 198949235 198949235 + Missense_Mutation SNP G G A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr2:198949235G>A uc010fsp.2 + 2 1285 c.994G>A c.(994-996)GCC>ACC p.A332T PLCL1_uc002uuv.3_Missense_Mutation_p.A253T NM_001114661 NP_001108133 Q15111 PLCL1_HUMAN RecName: Full=Inactive phospholipase C-like protein 1; Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein; Short=PRIP; 332 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|skin(1) 2 Quinacrine(DB01103) ATATTTGGATGCCAATGATCT 0.383 NA 6 52 0 0 0.001984 0 0 SATB2 23314 broad.mit.edu 37 2 200298081 200298081 + Missense_Mutation SNP C C G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr2:200298081C>G uc002uuy.1 - 3 1143 c.326G>C c.(325-327)AGC>ACC p.S109T SATB2_uc010fsq.1_Missense_Mutation_p.S109T|SATB2_uc002uuz.1_Missense_Mutation_p.S109T|SATB2_uc002uva.1_Missense_Mutation_p.S109T NM_015265 NP_056080 Q9UPW6 SATB2_HUMAN SATB homeobox 2 109 cytoplasm|nuclear matrix sequence-specific DNA binding transcription factor activity ovary(1) 1 GGCCGCAGAGCTGTGAGAATA 0.507 Colon(30;262 767 11040 24421 36230) NA 9 28 0 0 0.004482 0 0 ALS2CR11 151254 broad.mit.edu 37 2 202446879 202446879 + Missense_Mutation SNP T T C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr2:202446879T>C uc002uye.2 - 5 626 c.578A>G c.(577-579)AAT>AGT p.N193S ALS2CR11_uc002uyf.2_Missense_Mutation_p.N193S|ALS2CR11_uc010fti.2_Missense_Mutation_p.N193S NM_152525 NP_689738 Q53TS8 AL2SA_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 193 large_intestine(1)|ovary(1)|skin(1) 3 TTTTTCTCTATTGTCATATTG 0.299 NA 7 65 0 0 0.00308 0 0 MDH1B 130752 broad.mit.edu 37 2 207619827 207619827 + Silent SNP G G A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr2:207619827G>A uc002vbs.2 - 5 871 c.816C>T c.(814-816)GCC>GCT p.A272A MDH1B_uc010ziw.1_Intron|MDH1B_uc010fui.2_Silent_p.A272A|MDH1B_uc010fuj.2_Silent_p.A174A|MDH1B_uc002vbt.2_Intron NM_001039845 NP_001034934 Q5I0G3 MDH1B_HUMAN malate dehydrogenase 1B, NAD (soluble) 272 carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle binding|malate dehydrogenase activity ovary(3)|kidney(1) 4 LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145) CAATGCGTGGGGCATATCTCA 0.478 Pancreas(76;29 1355 28675 37177 51207) NA 15 48 0 0 0.00499 0 0 MAP2 4133 broad.mit.edu 37 2 210559692 210559692 + Missense_Mutation SNP A A G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr2:210559692A>G uc002vde.1 + 7 3046 c.2798A>G c.(2797-2799)AAA>AGA p.K933R MAP2_uc002vdc.1_Missense_Mutation_p.K933R|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.K929R NM_002374 NP_002365 P11137 MAP2_HUMAN microtubule-associated protein 2 isoform 1 933 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1) 17 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) AGTGTTGACAAAGAAGCATCC 0.428 Pancreas(27;423 979 28787 29963) NA 5 36 0 0 0.001168 0 0 ERBB4 2066 broad.mit.edu 37 2 212530125 212530125 + Silent SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr2:212530125C>T uc002veg.1 - 15 1892 c.1794G>A c.(1792-1794)CAG>CAA p.Q598Q ERBB4_uc002veh.1_Silent_p.Q598Q|ERBB4_uc010zji.1_Silent_p.Q598Q|ERBB4_uc010zjj.1_Silent_p.Q598Q|ERBB4_uc010fut.1_Silent_p.Q598Q NM_005235 NP_005226 Q15303 ERBB4_HUMAN v-erb-a erythroblastic leukemia viral oncogene 598 Extracellular (Potential).|Cys-rich. cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 33 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) TGTTTGCCCCCTGTAAGCCAT 0.458 NA TSP Lung(8;0.080) 10 35 0 0 0.006214 0 0 ABCA12 26154 broad.mit.edu 37 2 215901724 215901724 + Missense_Mutation SNP T T A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr2:215901724T>A uc002vew.2 - 8 1158 c.938A>T c.(937-939)CAG>CTG p.Q313L ABCA12_uc010zjn.1_5'UTR NM_173076 NP_775099 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A, member 12 313 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 11 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) AACAGACTTCTGGAGGGTTCT 0.418 Ovarian(66;664 1488 5121 34295) NA 19 64 0 0 0.008871 0 0 MOGAT1 116255 broad.mit.edu 37 2 223574461 223574461 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr2:223574461G>T uc010fws.1 + 6 908 c.860G>T c.(859-861)CGC>CTC p.R287L MOGAT1_uc010fwt.1_Missense_Mutation_p.R247L NM_058165 NP_477513 Q96PD6 MOGT1_HUMAN monoacylglycerol O-acyltransferase 1 287 glycerol metabolic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity breast(1) 1 Renal(207;0.0183) Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105) GCAGTTGGCCGCCCGATCCCT 0.502 Ovarian(93;205 1446 2385 11581 25911) NA 22 110 4.72057e-08 7.21723e-08 0.003954 1 0 UGT1A6 54578 broad.mit.edu 37 2 234602454 234602454 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr2:234602454G>T uc002vuv.3 + 1 943 c.804G>T c.(802-804)ATG>ATT p.M268I UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Missense_Mutation_p.M1I|UGT1A6_uc010zmy.1_Missense_Mutation_p.M268I NM_001072 NP_001063 P19224 UD16_HUMAN UDP glycosyltransferase 1 family, polypeptide A6 268 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome enzyme binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity 0 Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128) Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702) GGCCGGTCATGCCCAACATGG 0.428 NA 62 173 2.89935e-36 5.84972e-36 0.01441 1 0 UGT1A5 54579 broad.mit.edu 37 2 234622111 234622111 + Silent SNP G G T rs147117995 byFrequency TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr2:234622111G>T uc002vuw.2 + 1 474 c.474G>T c.(472-474)GCG>GCT p.A158A UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Silent_p.A158A NM_019078 NP_061951 P35504 UD15_HUMAN UDP glycosyltransferase 1 family, polypeptide A5 158 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(1) 1 Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128) Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645) ACCTCTGCGCGGCGGTGCTGG 0.493 NA 30 89 1.68575e-08 2.62993e-08 0.007291 1 0 PRR21 643905 broad.mit.edu 37 2 240982120 240982120 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr2:240982120G>T uc010zod.1 - 1 280 c.280C>A c.(280-282)CCA>ACA p.P94T NM_001080835 NP_001074304 Q8WXC7 PRR21_HUMAN proline rich 21 94 Pro-rich. ovary(1)|skin(1) 2 AAGGGCCGTGGGTGAAGAGGC 0.612 NA 18 24 3.99206e-14 7.36337e-14 0.007413 1 0 THAP4 51078 broad.mit.edu 37 2 242572835 242572835 + Missense_Mutation SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr2:242572835C>T uc002wbt.2 - 2 960 c.737G>A c.(736-738)CGA>CAA p.R246Q NM_015963 NP_057047 Q8WY91 THAP4_HUMAN THAP domain containing 4 isoform 1 246 DNA binding|metal ion binding 0 all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2) Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844) TGGCCTTTCTCGGGTGTGCTT 0.547 NA 4 92 0 0 0.009096 0 0 SNRPB 6628 broad.mit.edu 37 20 2442427 2442427 + Missense_Mutation SNP G G A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr20:2442427G>A uc002wfz.1 - 7 861 c.698C>T c.(697-699)CCG>CTG p.P233L SNRPB_uc002wga.1_3'UTR|SNRPB_uc010zpv.1_3'UTR|SNRPB_uc002wgb.2_3'UTR NM_198216 NP_937859 P14678 RSMB_HUMAN small nuclear ribonucleoprotein polypeptide B/B' 233 Repeat-rich region.| histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP protein binding|protein binding|RNA binding ovary(1) 1 GCGCATTCCCGGGGGAGGGGG 0.552 NA 4 61 0 0 0.001984 0 0 SIGLEC1 6614 broad.mit.edu 37 20 3682161 3682161 + Silent SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr20:3682161C>A uc002wja.2 - 6 1356 c.1356G>T c.(1354-1356)CTG>CTT p.L452L SIGLEC1_uc002wiz.3_Silent_p.L452L NM_023068 NP_075556 Q9BZZ2 SN_HUMAN sialoadhesin precursor 452 Ig-like C2-type 4.|Extracellular (Potential). cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1) 10 AGGTGGAGGCCAGGATATGAC 0.617 NA 10 38 0.000151284 0.000188216 0.001855 1 0 ANKRD5 63926 broad.mit.edu 37 20 10036234 10036234 + Missense_Mutation SNP G G A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr20:10036234G>A uc002wno.2 + 11 2650 c.2257G>A c.(2257-2259)GAC>AAC p.D753N uc002wnn.1_Intron|ANKRD5_uc002wnp.2_Missense_Mutation_p.D753N|ANKRD5_uc010gbz.2_Missense_Mutation_p.D564N NM_022096 NP_071379 Q9NU02 ANKR5_HUMAN ankyrin repeat domain protein 5 753 calcium ion binding ovary(1)|breast(1) 2 GGTGGACTTCGACGATTTTAT 0.438 NA 14 38 0 0 0.001855 0 0 PCSK2 5126 broad.mit.edu 37 20 17434598 17434598 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr20:17434598G>T uc002wpm.2 + 9 1417 c.1097G>T c.(1096-1098)GGT>GTT p.G366V PCSK2_uc002wpl.2_Missense_Mutation_p.G347V|PCSK2_uc010zrm.1_Missense_Mutation_p.G331V NM_002594 NP_002585 P16519 NEC2_HUMAN proprotein convertase subtilisin/kexin type 2 366 Catalytic. enkephalin processing|insulin processing|islet amyloid polypeptide processing extracellular space|membrane|soluble fraction|transport vesicle serine-type endopeptidase activity ovary(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1) 7 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CCCGAGGCCGGTGTGGTGAGC 0.612 NA 13 26 4.3838e-07 6.43082e-07 0.001855 1 0 FRG1B 284802 broad.mit.edu 37 20 29628263 29628263 + Missense_Mutation SNP A A G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr20:29628263A>G uc010ztl.1 + 3 207 c.175A>G c.(175-177)ATT>GTT p.I59V FRG1B_uc002wvm.1_RNA|FRG1B_uc010ztj.1_RNA|FRG1B_uc010gdr.1_RNA|FRG1B_uc010ztk.1_Missense_Mutation_p.I11V Homo sapiens cDNA FLJ32537 fis, clone SMINT2000400, highly similar to Homo sapiens FRG1 mRNA. 0 TAGCTGCTTTATTAGATGCAA 0.363 NA 5 56 0 0 0.004482 0 0 TPX2 22974 broad.mit.edu 37 20 30381818 30381818 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr20:30381818G>T uc002wwp.1 + 14 2375 c.1677G>T c.(1675-1677)CAG>CAT p.Q559H TPX2_uc010gdv.1_Missense_Mutation_p.Q595H NM_012112 NP_036244 Q9ULW0 TPX2_HUMAN TPX2, microtubule-associated protein homolog 559 activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization cytoplasm|microtubule|nucleus|spindle pole ATP binding|GTP binding|protein kinase binding large_intestine(1)|ovary(1) 2 Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656) AAGAACTGCAGAAAGGGGAGG 0.338 NA 11 46 6.40141e-05 8.171e-05 0.010729 1 0 SLC32A1 140679 broad.mit.edu 37 20 37357131 37357131 + Missense_Mutation SNP T T C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr20:37357131T>C uc002xjc.2 + 2 1690 c.1427T>C c.(1426-1428)TTT>TCT p.F476S NM_080552 NP_542119 Q9H598 VIAAT_HUMAN solute carrier family 32, member 1 476 Helical; (Potential). neurotransmitter secretion clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane vesicular hydrogen:amino acid antiporter activity 0 Myeloproliferative disorder(115;0.00878) Glycine(DB00145) CCCAGCCTCTTTCACCTGCGC 0.637 NA 5 36 0 0 0.000602 0 0 ZFP64 55734 broad.mit.edu 37 20 50713933 50713933 + Missense_Mutation SNP G G A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr20:50713933G>A uc002xwk.2 - 7 1304 c.955C>T c.(955-957)CGC>TGC p.R319C ZFP64_uc002xwj.2_Missense_Mutation_p.R100C NM_199427 NP_955459 Q9NPA5 ZF64A_HUMAN zinc finger protein 64 isoform d 276 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 CTGAGATGGCGGTCCAAGTCT 0.284 NA 42 166 0 0 0.011902 0 0 TSHZ2 128553 broad.mit.edu 37 20 51871008 51871008 + Silent SNP A A T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr20:51871008A>T uc002xwo.2 + 2 1967 c.1011A>T c.(1009-1011)ACA>ACT p.T337T NM_173485 NP_775756 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 337 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|haematopoietic_and_lymphoid_tissue(1) 6 STAD - Stomach adenocarcinoma(23;0.1) ATTCAACCACAGGATCTTTTG 0.498 NA 15 80 0 0 0.00499 0 0 TSHZ2 128553 broad.mit.edu 37 20 51872426 51872426 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr20:51872426C>A uc002xwo.2 + 2 3385 c.2429C>A c.(2428-2430)CCA>CAA p.P810Q NM_173485 NP_775756 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 810 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|haematopoietic_and_lymphoid_tissue(1) 6 STAD - Stomach adenocarcinoma(23;0.1) ACCCCAAAGCCAGCCTCCTCC 0.542 NA 6 62 0.00116845 0.00134655 0.001168 1 0 C20orf107 388799 broad.mit.edu 37 20 55111388 55111389 + Missense_Mutation DNP TG TG AT TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 TG TG - - TG TG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr20:55111388_55111389TG>AT uc010zzh.1 + 2 490_491 c.410_411TG>AT c.(409-411)ATG>AAT p.M137N C20orf107_uc002xxz.2_Missense_Mutation_p.M137N NM_001013646 NP_001013668 Q5JX69 CT107_HUMAN hypothetical protein LOC388799 precursor 137 Cytoplasmic (Potential). integral to membrane 0 Colorectal(105;0.202) AAAGGTGCCATGGCAACAGGCA 0.421 NA 10 40 0 0 0.004672 0 0 PCK1 5105 broad.mit.edu 37 20 56140750 56140750 + Nonsense_Mutation SNP A A T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr20:56140750A>T uc002xyn.3 + 10 1922 c.1759A>T c.(1759-1761)AAG>TAG p.K587* PCK1_uc010zzm.1_Nonsense_Mutation_p.K270* NM_002591 NP_002582 P35558 PCKGC_HUMAN cytosolic phosphoenolpyruvate carboxykinase 1 587 gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus cytosol|nucleus carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity skin(1) 1 Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07) ATTCTGGGAGAAGGAGGTGGA 0.507 NA 7 20 0 0 0.00308 0 0 CHRNA4 1137 broad.mit.edu 37 20 61990903 61990903 + Missense_Mutation SNP G G T rs113080067 byFrequency TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr20:61990903G>T uc002yes.2 - 2 403 c.225C>A c.(223-225)GAC>GAA p.D75E CHRNA4_uc002yet.1_Intron|CHRNA4_uc011aaw.1_RNA|CHRNA4_uc010gke.1_5'UTR|CHRNA4_uc002yev.1_5'UTR|CHRNA4_uc010gkf.1_5'UTR NM_000744 NP_000735 P43681 ACHA4_HUMAN cholinergic receptor, nicotinic, alpha 4 subunit 75 Extracellular (Potential). B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity central_nervous_system(1)|skin(1) 2 all_cancers(38;1.71e-10) Nicotine(DB00184)|Varenicline(DB01273) CACCTACCACGTCAATGAGCT 0.612 NA 8 40 2.17888e-05 2.89955e-05 0.006214 1 0 TMPRSS15 5651 broad.mit.edu 37 21 19698822 19698822 + Silent SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr21:19698822G>T uc002ykw.2 - 16 1879 c.1848C>A c.(1846-1848)CTC>CTA p.L616L NM_002772 NP_002763 P98073 ENTK_HUMAN enterokinase precursor 616 Extracellular (Potential).|CUB 2. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1) 8 CGTTAGTGATGAGAAGCACAG 0.458 NA 21 51 7.45023e-12 1.31093e-11 0.010504 1 0 AIRE 326 broad.mit.edu 37 21 45707006 45707006 + Silent SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr21:45707006C>T uc002zei.2 + 3 580 c.453C>T c.(451-453)ACC>ACT p.T151T NM_000383 NP_000374 O43918 AIRE_HUMAN autoimmune regulator isoform 1 151 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding skin(1) 1 Colorectal(79;0.0806) CAAGGGGCACCGCCAGCCCAG 0.706 NA Autoimmune_PolyEndocrinopathy_Candidiasis_Ectodermal_Dystrophy 12 31 0 0 0.010729 0 0 TRPM2 7226 broad.mit.edu 37 21 45821588 45821588 + Silent SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr21:45821588C>A uc002zet.1 + 17 2559 c.2346C>A c.(2344-2346)GGC>GGA p.G782G TRPM2_uc002zeu.1_Silent_p.G782G|TRPM2_uc002zew.1_Silent_p.G782G|TRPM2_uc010gpt.1_Silent_p.G782G|TRPM2_uc002zex.1_Silent_p.G568G|TRPM2_uc002zey.1_Silent_p.G295G NM_003307 NP_003298 O94759 TRPM2_HUMAN transient receptor potential cation channel, 782 Extracellular (Potential). integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 AGGATGTGGGCACCCCCGCGG 0.662 NA 15 36 4.93089e-13 8.95106e-13 0.00245 1 0 KRTAP12-1 353332 broad.mit.edu 37 21 46101879 46101879 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr21:46101879C>A uc002zfv.2 - 1 200 c.160G>T c.(160-162)GTG>TTG p.V54L C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_181686 NP_859014 P59990 KR121_HUMAN keratin associated protein 12-1 54 7.|14 X 5 AA approximate repeats. keratin filament skin(2) 2 GGCACGCACACAGAGGACTGG 0.662 NA 26 67 2.48779e-11 4.31134e-11 0.005443 1 0 ITGB2 3689 broad.mit.edu 37 21 46311723 46311723 + Splice_Site SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr21:46311723C>T uc002zgd.2 - 10 1456 c.1412_splice c.e10+1 p.R471_splice ITGB2_uc002zge.2_Splice_Site_p.R471_splice|ITGB2_uc002zgf.3_Splice_Site_p.R471_splice|ITGB2_uc011afl.1_Splice_Site_p.R393_splice|ITGB2_uc010gpw.2_Splice_Site_p.R414_splice|ITGB2_uc002zgg.2_Splice_Site_p.R471_splice NM_001127491 NP_001120963 P05107 ITB2_HUMAN integrin, beta 2 precursor apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation integrin complex glycoprotein binding|protein kinase binding|receptor activity ovary(4)|central_nervous_system(3)|breast(2) 9 Colorectal(79;0.0669) Simvastatin(DB00641) GCCCGCCTCACCTGCAGATGC 0.677 NA 5 17 0 0 0.000602 0 0 USP18 11274 broad.mit.edu 37 22 18640461 18640461 + Missense_Mutation SNP A A G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr22:18640461A>G uc002zny.2 + 2 369 c.31A>G c.(31-33)ATC>GTC p.I11V NM_017414 NP_059110 Q9UMW8 UBP18_HUMAN ubiquitin specific protease 18 11 regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway|ubiquitin-dependent protein catabolic process cytosol|nucleus ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1) 1 CCTGAGGCAAATCTGTCAGTC 0.572 NA OREG0026287 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 33 199 0 0 0.013726 0 0 CLTCL1 8218 broad.mit.edu 37 22 19175104 19175104 + Missense_Mutation SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr22:19175104C>T uc002zpb.2 - 30 4646 c.4571G>A c.(4570-4572)AGC>AAC p.S1524N CLTCL1_uc011agv.1_Intron|CLTCL1_uc011agw.1_Missense_Mutation_p.S1503N|CLTCL1_uc011agt.1_Missense_Mutation_p.S315N|CLTCL1_uc011agu.1_Intron NM_007098 NP_009029 P53675 CLH2_HUMAN clathrin, heavy polypeptide-like 1 isoform 1 1524 Proximal segment.|Heavy chain arm. anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network protein binding|signal transducer activity|structural molecule activity ovary(4)|central_nervous_system(1) 5 Colorectal(54;0.0993) GAGCTCCACGCTCTGGGCCCA 0.567 NA T ? ALCL 6 42 0 0 0.001168 0 0 TRMT2A 27037 broad.mit.edu 37 22 20104030 20104030 + Missense_Mutation SNP T T C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr22:20104030T>C uc002zrk.1 - 3 345 c.130A>G c.(130-132)AAA>GAA p.K44E TRMT2A_uc002zrl.1_Missense_Mutation_p.K44E|TRMT2A_uc002zrm.1_5'UTR|TRMT2A_uc002zrn.1_Missense_Mutation_p.K44E|TRMT2A_uc011ahk.1_Missense_Mutation_p.K44E|RANBP1_uc011ahl.1_5'Flank|RANBP1_uc002zro.1_5'Flank|RANBP1_uc002zrp.2_5'Flank NM_182984 NP_892029 Q8IZ69 TRM2A_HUMAN HpaII tiny fragments locus 9C 44 RNA processing nucleotide binding|RNA binding|RNA methyltransferase activity breast(1) 1 GCGCCCTCTTTCTCCACCTCC 0.642 NA 7 40 0 0 0.001984 0 0 TRIOBP 11078 broad.mit.edu 37 22 38150967 38150967 + Silent SNP T T C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr22:38150967T>C uc003atr.2 + 13 5734 c.5463T>C c.(5461-5463)TAT>TAC p.Y1821Y TRIOBP_uc003atu.2_Silent_p.Y1649Y|TRIOBP_uc003atv.2_Silent_p.Y108Y|TRIOBP_uc003atw.2_Silent_p.Y108Y|TRIOBP_uc003atx.1_5'Flank|TRIOBP_uc010gxh.2_5'Flank NM_001039141 NP_001034230 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein isoform 6 1821 PH. 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) GTCTCAAATATTACAGAGACT 0.567 NA 4 23 0 0 0.000602 0 0 PRR5 55615 broad.mit.edu 37 22 45132666 45132667 + Missense_Mutation DNP CG CG TT TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 CG CG - - CG CG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr22:45132666_45132667CG>TT uc003bfb.1 + 8 978_979 c.706_707CG>TT c.(706-708)CGC>TTC p.R236F PRR5_uc003bew.1_Missense_Mutation_p.R227F|PRR5_uc003bex.1_Missense_Mutation_p.R141F|PRR5_uc010gzt.1_Missense_Mutation_p.R259F|PRR5_uc010gzu.1_Missense_Mutation_p.R200F|PRR5_uc003bey.1_Missense_Mutation_p.R227F|PRR5_uc003bez.1_Missense_Mutation_p.R141F|PRR5-ARHGAP8_uc003bfc.2_Intron|PRR5-ARHGAP8_uc003bfd.2_Intron|PRR5-ARHGAP8_uc011aqi.1_Intron|PRR5-ARHGAP8_uc011aqj.1_Intron|PRR5_uc003bfa.1_Missense_Mutation_p.R129F|PRR5_uc003bfe.1_RNA|PRR5-ARHGAP8_uc003bfg.1_Intron|PRR5_uc003bfh.1_Missense_Mutation_p.R135F NM_181333 NP_851850 P85299 PRR5_HUMAN proline rich 5 (renal) isoform 1 236 cell cycle skin(1) 1 all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647) UCEC - Uterine corpus endometrioid carcinoma (28;0.168) GCGCCTCCTCCGCCGCTCCCGC 0.678 NA 10 78 0 0 0.004672 0 0 SRGAP3 9901 broad.mit.edu 37 3 9102045 9102045 + Splice_Site SNP T T A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr3:9102045T>A uc003brf.1 - 6 1349 c.673_splice c.e6-1 p.R225_splice SRGAP3_uc003brg.1_Splice_Site_p.R225_splice|SRGAP3_uc003bri.1_Splice_Site|SRGAP3_uc003brk.2_Intron|SRGAP3_uc003brj.1_Splice_Site_p.R85_splice NM_014850 NP_055665 O43295 SRGP2_HUMAN SLIT-ROBO Rho GTPase activating protein 3 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding SRGAP3/RAF1(4) central_nervous_system(4)|skin(3)|urinary_tract(1)|breast(1) 9 OV - Ovarian serous cystadenocarcinoma(96;0.0563) GGCCTGCCTCTGGAAGAAGAA 0.368 NA T RAF1 pilocytic astrocytoma 12 47 0 0 0.013537 0 0 WNT7A 7476 broad.mit.edu 37 3 13916538 13916538 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr3:13916538C>A uc003bye.1 - 2 509 c.204G>T c.(202-204)ATG>ATT p.M68I NM_004625 NP_004616 O00755 WNT7A_HUMAN wingless-type MMTV integration site family, 68 activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity ovary(2)|breast(1) 3 CGTCCAGGCCCATTTGTGAGC 0.592 NA 9 22 0.000274275 0.000331637 0.004482 1 0 GRIP2 80852 broad.mit.edu 37 3 14564574 14564574 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr3:14564574G>T uc011avi.1 - 7 790 c.790C>A c.(790-792)CAT>AAT p.H264N GRIP2_uc011avh.1_5'UTR|GRIP2_uc003byu.1_3'UTR|GRIP2_uc003byv.1_3'UTR NM_001080423 NP_001073892 Q9C0E4 GRIP2_HUMAN glutamate receptor interacting protein 2 167 PDZ 2. synaptic transmission cytosol|plasma membrane protein binding pancreas(1) 1 CCATCTTCATGGGCACCTCCT 0.602 NA 18 37 1.67942e-08 2.626e-08 0.006122 1 0 SUSD5 26032 broad.mit.edu 37 3 33249344 33249344 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr3:33249344G>T uc003cfo.1 - 3 783 c.365C>A c.(364-366)CCA>CAA p.P122Q NM_015551 NP_056366 O60279 SUSD5_HUMAN sushi domain containing 5 precursor 122 Extracellular (Potential).|Link. cell adhesion integral to membrane hyaluronic acid binding ovary(1)|central_nervous_system(1) 2 ACCAGGAACTGGGTTGCTCTC 0.458 NA 12 52 1.49906e-05 2.0183e-05 0.00245 1 0 DNAH12 201625 broad.mit.edu 37 3 57496642 57496642 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr3:57496642C>A uc003dit.2 - 5 525 c.344G>T c.(343-345)TGG>TTG p.W115L DNAH12_uc003diu.2_Missense_Mutation_p.W115L NM_178504 NP_848599 Q6ZR08 DYH12_HUMAN dynein heavy chain domain 2 isoform 1 115 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity pancreas(1)|skin(1) 2 GTGATCCAGCCATTCCTGCTG 0.353 NA 7 32 7.48243e-07 1.07248e-06 0.006214 1 0 OR5K3 403277 broad.mit.edu 37 3 98109761 98109761 + Missense_Mutation SNP C C G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr3:98109761C>G uc011bgw.1 + 1 252 c.252C>G c.(250-252)AAC>AAG p.N84K NM_001005516 NP_001005516 A6NET4 OR5K3_HUMAN olfactory receptor, family 5, subfamily K, 84 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TGTTAGAGAACTTCTTTTCTG 0.403 NA 40 188 0 0 0.011902 0 0 POLQ 10721 broad.mit.edu 37 3 121207919 121207919 + Missense_Mutation SNP T T A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr3:121207919T>A uc003eee.3 - 16 3988 c.3859A>T c.(3859-3861)AAT>TAT p.N1287Y POLQ_uc003eed.2_Missense_Mutation_p.N459Y NM_199420 NP_955452 O75417 DPOLQ_HUMAN DNA polymerase theta 1287 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) CTAGAAATATTTAGAAAATTC 0.348 Pancreas(152;907 1925 26081 31236 36904) NA DNA_polymerases_(catalytic_subunits) 21 56 0 0 0.012319 0 0 Unknown 0 broad.mit.edu 37 3 129130082 129130082 + Silent SNP C C G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr3:129130082C>G uc003emg.2 - 5 1117 c.954G>C c.(952-954)ACG>ACC p.T318T NM_207307 NP_997190 hypothetical protein LOC90288 NA TCTCCATCTGCGTGTCGACTG 0.622 NA 6 11 0 0 0.001168 0 0 COL29A1 256076 broad.mit.edu 37 3 130174340 130174340 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr3:130174340G>T uc010htj.1 + 37 7114 c.6620G>T c.(6619-6621)GGC>GTC p.G2207V COL29A1_uc010hti.1_RNA|COL29A1_uc010htk.1_Missense_Mutation_p.G246V NM_153264 NP_694996 A8TX70 CO6A5_HUMAN collagen, type XXIX, alpha 1 2207 Nonhelical region. axon guidance|cell adhesion collagen 0 GGAGGTAATGGCTTCATTGGC 0.358 NA 5 28 5.9392e-07 8.56639e-07 0.001168 1 0 ACAD11 84129 broad.mit.edu 37 3 132294735 132294735 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr3:132294735G>T uc003eov.3 - 17 2262 c.1882C>A c.(1882-1884)CTT>ATT p.L628I NM_032169 NP_115545 Q709F0 ACD11_HUMAN putative acyl-CoA dehydrogenase 628 peroxisome acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|transferase activity, transferring phosphorus-containing groups ovary(1) 1 CCAGGTCCAAGGCGGCCTTGG 0.478 NA 10 76 1.58986e-06 2.25067e-06 0.008291 1 0 NPHP3 27031 broad.mit.edu 37 3 132440852 132440852 + Silent SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr3:132440852C>T uc003epe.1 - 1 425 c.348G>A c.(346-348)GAG>GAA p.E116E NCRNA00119_uc003epg.1_5'Flank|NPHP3_uc003epf.1_5'UTR|NCRNA00119_uc010htu.1_5'Flank NM_153240 NP_694972 Q7Z494 NPHP3_HUMAN nephrocystin 3 116 Potential. maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway cilium protein binding ovary(1) 1 CCAGCTTGGCCTCGCGGCGGC 0.667 NA 9 33 0 0 0.006214 0 0 ZIC4 84107 broad.mit.edu 37 3 147120558 147120558 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr3:147120558C>A uc003ewd.1 - 2 300 c.27G>T c.(25-27)ATG>ATT p.M9I ZIC4_uc011bno.1_Missense_Mutation_p.M59I NM_032153 NP_115529 Q8N9L1 ZIC4_HUMAN zinc finger protein of the cerebellum 4 9 nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|central_nervous_system(1) 2 ATCGTTTCCTCATCACCAAGG 0.353 NA 18 40 1.64113e-05 2.20527e-05 0.010504 1 0 CPB1 1360 broad.mit.edu 37 3 148558715 148558715 + Missense_Mutation SNP A A T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr3:148558715A>T uc003ewl.2 + 5 450 c.427A>T c.(427-429)AGT>TGT p.S143C NM_001871 NP_001862 P15086 CBPB1_HUMAN pancreatic carboxypeptidase B1 preproprotein 143 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115) CATCTCTCGCAGTGTTATCGG 0.438 NA 10 39 0 0 0.008291 0 0 MED12L 116931 broad.mit.edu 37 3 150876565 150876565 + Silent SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr3:150876565C>A uc003eyp.2 + 6 854 c.816C>A c.(814-816)CTC>CTA p.L272L MED12L_uc011bnz.1_Silent_p.L272L|MED12L_uc003eym.1_Silent_p.L272L|MED12L_uc003eyn.2_Silent_p.L272L|MED12L_uc003eyo.2_Silent_p.L272L NM_053002 NP_443728 Q86YW9 MD12L_HUMAN mediator of RNA polymerase II transcription, 272 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) TTCTTAAACTCTTGCTACCAC 0.383 NA 8 15 0.00448238 0.00501444 0.004482 1 0 GPR149 344758 broad.mit.edu 37 3 154147332 154147333 + Missense_Mutation DNP GG GG TT TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr3:154147332_154147333GG>TT uc003faa.2 - 1 172_173 c.72_73CC>AA c.(70-75)GACCTT>GAAATT p.24_25DL>EI NM_001038705 NP_001033794 Q86SP6 GP149_HUMAN G protein-coupled receptor 149 24_25 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(6) 6 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) GGATTTAAAAGGTCCGTAGAAT 0.371 NA 4 33 0 0 0.004672 0 0 SHOX2 6474 broad.mit.edu 37 3 157816033 157816033 + Missense_Mutation SNP G G T rs145675724 TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr3:157816033G>T uc003fbr.2 - 5 918 c.779C>A c.(778-780)GCG>GAG p.A260E SHOX2_uc003fbs.2_Missense_Mutation_p.A284E|SHOX2_uc010hvw.2_Missense_Mutation_p.A248E NM_006884 NP_006875 O60902 SHOX2_HUMAN short stature homeobox 2 isoform a 260 nervous system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043) GTGGTGGTGCGCGTGCGCCAC 0.637 NA 14 45 9.31168e-06 1.27365e-05 0.001855 1 0 BCHE 590 broad.mit.edu 37 3 165547336 165547336 + Missense_Mutation SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr3:165547336C>T uc003fem.3 - 2 1646 c.1486G>A c.(1486-1488)GTG>ATG p.V496M BCHE_uc003fen.3_Intron NM_000055 NP_000046 P06276 CHLE_HUMAN butyrylcholinesterase precursor 496 choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic endoplasmic reticulum lumen|extracellular space|membrane acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding ovary(3)|pancreas(1) 4 Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116) CACCGTTTCACTATGGATCTA 0.393 NA 7 38 0 0 0.00308 0 0 SERPINI1 5274 broad.mit.edu 37 3 167506983 167506983 + Nonsense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr3:167506983G>T uc003ffa.3 + 2 265 c.67G>T c.(67-69)GAG>TAG p.E23* SERPINI1_uc003ffb.3_Nonsense_Mutation_p.E23* NM_001122752 NP_001116224 Q99574 NEUS_HUMAN neuroserpin precursor 23 central nervous system development|peripheral nervous system development|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity skin(1) 1 CACTTTCCCTGAGGAAGCCAT 0.413 NA 12 39 1.05317e-09 1.71296e-09 0.00245 1 0 LRRC34 151827 broad.mit.edu 37 3 169525463 169525463 + Missense_Mutation SNP T T C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr3:169525463T>C uc003ffx.2 - 3 268 c.253A>G c.(253-255)AAC>GAC p.N85D LRRC34_uc003ffy.2_Missense_Mutation_p.N85D|LRRC34_uc011bpn.1_Missense_Mutation_p.N85D|LRRC34_uc003ffz.2_Missense_Mutation_p.N37D|LRRC34_uc003fga.3_Missense_Mutation_p.N37D NM_153353 NP_699184 Q8IZ02 LRC34_HUMAN leucine rich repeat containing 34 85 0 all_cancers(22;4.12e-22)|all_epithelial(15;7.54e-27)|all_lung(20;1.63e-16)|Lung NSC(18;6.92e-16)|Ovarian(172;0.000223)|Breast(254;0.197) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676) AAGCGATTGTTACCAGCAATG 0.289 NA 14 23 0 0 0.007413 0 0 TP63 8626 broad.mit.edu 37 3 189526191 189526191 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr3:189526191C>A uc003fry.2 + 4 544 c.455C>A c.(454-456)CCC>CAC p.P152H TP63_uc003frx.2_Missense_Mutation_p.P152H|TP63_uc003frz.2_Missense_Mutation_p.P152H|TP63_uc010hzc.1_Missense_Mutation_p.P152H|TP63_uc003fsa.2_Missense_Mutation_p.P58H|TP63_uc003fsb.2_Missense_Mutation_p.P58H|TP63_uc003fsc.2_Missense_Mutation_p.P58H|TP63_uc003fsd.2_Missense_Mutation_p.P58H|TP63_uc010hzd.1_Intron|TP63_uc003fse.1_Missense_Mutation_p.P33H NM_003722 NP_003713 Q9H3D4 P63_HUMAN tumor protein p63 isoform 1 152 anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 12 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) TACGCACAGCCCAGCTCCACC 0.622 NA Hay-Wells_syndrome HNSCC(45;0.13) 17 53 0.00498961 0.00550136 0.00499 1 0 CLDN1 9076 broad.mit.edu 37 3 190030679 190030679 + Missense_Mutation SNP C C T rs140846629 byFrequency TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr3:190030679C>T uc003fsh.2 - 2 590 c.370G>A c.(370-372)GCG>ACG p.A124T NM_021101 NP_066924 O95832 CLD1_HUMAN claudin 1 124 Helical; (Potential). calcium-independent cell-cell adhesion|interspecies interaction between organisms integral to plasma membrane|tight junction identical protein binding|structural molecule activity lung(1) 1 all_cancers(143;2.95e-10)|Ovarian(172;0.0512) Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05) GBM - Glioblastoma multiforme(93;0.015) AGAAATATCGCACCCCCAATG 0.458 NA 25 94 0 0 0.00333 0 0 CLDN16 10686 broad.mit.edu 37 3 190120208 190120208 + Missense_Mutation SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr3:190120208C>T uc003fsi.2 + 2 475 c.407C>T c.(406-408)TCC>TTC p.S136F CLDN16_uc010hze.2_Intron NM_006580 NP_006571 Q9Y5I7 CLD16_HUMAN claudin 16 136 Extracellular (Potential). calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion integral to membrane|tight junction identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity ovary(1) 1 all_cancers(143;3.61e-10)|Ovarian(172;0.0991) Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05) GBM - Glioblastoma multiforme(93;0.018) GAGTACGATTCCATACTTGCG 0.483 NA 8 57 0 0 0.006214 0 0 SENP5 205564 broad.mit.edu 37 3 196612328 196612328 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr3:196612328G>T uc003fwz.3 + 2 525 c.276G>T c.(274-276)TTG>TTT p.L92F SENP5_uc011bty.1_Missense_Mutation_p.L92F NM_152699 NP_689912 Q96HI0 SENP5_HUMAN SUMO1/sentrin specific peptidase 5 92 cell cycle|cell division|proteolysis nucleolus cysteine-type peptidase activity breast(2)|lung(1) 3 all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.004) TTAGTACTTTGTCCTCTAAAG 0.408 Ovarian(47;891 1095 11174 13858 51271) NA 11 39 2.68362e-12 4.75858e-12 0.013537 1 0 FYTTD1 84248 broad.mit.edu 37 3 197483313 197483313 + Missense_Mutation SNP G G C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr3:197483313G>C uc003fyi.2 + 2 339 c.120G>C c.(118-120)TTG>TTC p.L40F FYTTD1_uc011bui.1_Missense_Mutation_p.L14F|FYTTD1_uc011buj.1_RNA|FYTTD1_uc011buk.1_5'UTR NM_032288 NP_115664 Q96QD9 UIF_HUMAN forty-two-three domain containing 1 isoform 1 40 UAP56-binding motif. mRNA export from nucleus nuclear speck mRNA binding|protein binding 0 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Lung NSC(153;0.132) Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(93;0.175) TCATCAAGTTGAATCGAAAGG 0.383 NA 5 20 0 0 0.000602 0 0 HGFAC 3083 broad.mit.edu 37 4 3444599 3444599 + Silent SNP G G A rs140087184 byFrequency TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr4:3444599G>A uc003ghc.2 + 2 261 c.258G>A c.(256-258)CCG>CCA p.P86P HGFAC_uc010icw.2_Silent_p.P86P NM_001528 NP_001519 Q04756 HGFA_HUMAN HGF activator preproprotein 86 proteolysis extracellular space protein binding|serine-type endopeptidase activity central_nervous_system(2) 2 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) TCCCGCCCCCGCCCAGGGCAG 0.667 NA 12 22 0 0 0.001855 0 0 OTOP1 133060 broad.mit.edu 37 4 4199745 4199745 + Silent SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr4:4199745G>T uc003ghp.1 - 5 846 c.816C>A c.(814-816)CCC>CCA p.P272P NM_177998 NP_819056 Q7RTM1 OTOP1_HUMAN otopetrin 1 272 Helical; (Potential). biomineral tissue development extracellular space|integral to membrane ovary(2)|central_nervous_system(1) 3 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CTATGTTGAAGGGGTAGAGGT 0.532 NA 9 36 1.76689e-08 2.74407e-08 0.006214 1 0 KIAA0232 9778 broad.mit.edu 37 4 6865538 6865538 + Missense_Mutation SNP A A G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr4:6865538A>G uc003gjr.3 + 7 3892 c.3429A>G c.(3427-3429)ATA>ATG p.I1143M KIAA0232_uc003gjq.3_Missense_Mutation_p.I1143M NM_014743 NP_055558 Q92628 K0232_HUMAN hypothetical protein LOC9778 1143 ATP binding ovary(2) 2 AAGTTGATATATTTGAAGATC 0.418 NA 9 24 0 0 0.006214 0 0 BOD1L 259282 broad.mit.edu 37 4 13601510 13601510 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr4:13601510C>A uc003gmz.1 - 10 7131 c.7014G>T c.(7012-7014)ATG>ATT p.M2338I BOD1L_uc010idr.1_Missense_Mutation_p.M1675I NM_148894 NP_683692 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 2338 DNA binding ovary(5)|breast(1) 6 CGGAAATTGGCATACATTCTG 0.512 NA 3 9 0.004672 0.00515945 0.004672 1 0 GBA3 57733 broad.mit.edu 37 4 22749528 22749528 + Missense_Mutation SNP G G C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr4:22749528G>C uc003gqp.3 + 3 987 c.896G>C c.(895-897)GGC>GCC p.G299A GBA3_uc010iep.2_Intron|GBA3_uc011bxo.1_Missense_Mutation_p.G300A NM_020973 NP_066024 Q9H227 GBA3_HUMAN cytosolic beta-glucosidase isoform a 299 glycoside catabolic process|glycosylceramide catabolic process cytosol beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity 0 ATGATCAAAGGCACTGCTGAT 0.408 NA 3 15 0 0 0.009096 0 0 ATP10D 57205 broad.mit.edu 37 4 47514733 47514733 + Missense_Mutation SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr4:47514733C>T uc003gxk.1 + 2 340 c.176C>T c.(175-177)CCC>CTC p.P59L ATP10D_uc003gxj.3_Missense_Mutation_p.P59L NM_020453 NP_065186 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 59 Cytoplasmic (Potential). ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|pancreas(1) 3 CACATCCAGCCCTTCAAGGAT 0.473 NA 11 28 0 0 0.013537 0 0 SPATA18 132671 broad.mit.edu 37 4 52943004 52943004 + Missense_Mutation SNP G G C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr4:52943004G>C uc003gzl.2 + 7 1096 c.818G>C c.(817-819)AGA>ACA p.R273T SPATA18_uc010igl.1_RNA|SPATA18_uc011bzq.1_Missense_Mutation_p.R241T|SPATA18_uc003gzk.1_Missense_Mutation_p.R273T NM_145263 NP_660306 Q8TC71 MIEAP_HUMAN spermatogenesis associated 18 homolog 273 Ser-rich. mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus mitochondrial outer membrane protein binding ovary(2)|skin(2) 4 GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204) AGCCGCAGCAGATCTGCCAGC 0.632 NA 4 25 0 0 0.009096 0 0 FIP1L1 81608 broad.mit.edu 37 4 54319267 54319267 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr4:54319267G>T uc003gzy.2 + 16 1652 c.1466G>T c.(1465-1467)CGT>CTT p.R489L PDGFRA_uc003haa.2_Intron|FIP1L1_uc011bzu.1_Missense_Mutation_p.R483L|FIP1L1_uc003gzz.2_Missense_Mutation_p.R415L|FIP1L1_uc003hab.2_Missense_Mutation_p.R454L|FIP1L1_uc003hac.2_Missense_Mutation_p.R243L|FIP1L1_uc010ign.2_RNA|FIP1L1_uc003had.2_Missense_Mutation_p.V74L|FIP1L1_uc003hae.2_Missense_Mutation_p.V74L NM_030917 NP_112179 Q6UN15 FIP1_HUMAN FIP1 like 1 isoform 1 489 Arg-rich.|Sufficient for interaction with CPSF1 and CSTF3.|Glu-rich. mRNA processing nucleus RNA binding ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134) GAGAGGGAGCGTGATCACAGT 0.259 NA T PDGFRA idiopathic hypereosinophilic syndrome 8 21 0.00621372 0.00680738 0.006214 1 0 KDR 3791 broad.mit.edu 37 4 55979605 55979605 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr4:55979605G>T uc003has.2 - 7 1144 c.842C>A c.(841-843)TCT>TAT p.S281Y KDR_uc003hat.1_Missense_Mutation_p.S281Y|KDR_uc011bzx.1_Missense_Mutation_p.S281Y NM_002253 NP_002244 P35968 VGFR2_HUMAN kinase insert domain receptor precursor 281 Ig-like C2-type 3.|Extracellular (Potential). angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1) 33 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) CTCACTCCCAGACTGGGTTTT 0.423 NA Mis NSCLC|angiosarcoma Familial_Infantile_Hemangioma TSP Lung(20;0.16) 7 35 8.12818e-05 0.000102047 0.001984 1 0 LPHN3 23284 broad.mit.edu 37 4 62903549 62903549 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr4:62903549C>A uc010ihh.2 + 21 3661 c.3488C>A c.(3487-3489)CCT>CAT p.P1163H LPHN3_uc003hcq.3_Missense_Mutation_p.P1163H|LPHN3_uc003hct.2_Missense_Mutation_p.P547H NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN latrophilin 3 precursor 1141 Cytoplasmic (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1) 18 TCTCGAACTCCTGGACGCTAC 0.418 NA 7 50 8.12818e-05 0.000102047 0.001984 1 0 UGT2A3 79799 broad.mit.edu 37 4 69795685 69795685 + Missense_Mutation SNP G G C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr4:69795685G>C uc003hef.2 - 6 1461 c.1430C>G c.(1429-1431)GCT>GGT p.A477G UGT2A3_uc010ihp.1_RNA NM_024743 NP_079019 Q6UWM9 UD2A3_HUMAN UDP glucuronosyltransferase 2 family, 477 Extracellular (Potential). integral to membrane glucuronosyltransferase activity ovary(1)|skin(1) 2 GTCATGGGCAGCTGATCGCAG 0.483 NA 32 72 0 0 0.012213 0 0 UGT2B10 7365 broad.mit.edu 37 4 69879852 69879852 + Missense_Mutation SNP C C G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr4:69879852C>G uc011cao.1 - 6 913 c.777G>C c.(775-777)CAG>CAC p.Q259H UGT2B10_uc011can.1_Missense_Mutation_p.Q175H P36537 UDB10_HUMAN RecName: Full=UDP-glucuronosyltransferase 2B28; Short=UDPGT 2B28; EC=2.4.1.17; Flags: Precursor; 296 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(3)|ovary(2) 5 CTCCAGAGCTCTGTACAAACT 0.418 Melanoma(133;755 1763 25578 26334 46021) NA 20 93 0 0 0.008871 0 0 SLC4A4 8671 broad.mit.edu 37 4 72316219 72316219 + Silent SNP T T A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr4:72316219T>A uc003hfy.2 + 10 1284 c.1167T>A c.(1165-1167)ATT>ATA p.I389I SLC4A4_uc010iic.2_Silent_p.I389I|SLC4A4_uc010iib.2_Silent_p.I389I|SLC4A4_uc003hfz.2_Silent_p.I389I|SLC4A4_uc003hgc.3_Silent_p.I345I|SLC4A4_uc010iid.2_5'UTR|SLC4A4_uc003hga.2_Silent_p.I267I|SLC4A4_uc003hgb.3_Silent_p.I345I NM_001098484 NP_001091954 Q9Y6R1 S4A4_HUMAN solute carrier family 4, sodium bicarbonate 389 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) ATCCAGCAATTAGGATAGAGC 0.433 NA 5 19 0 0 0.001168 0 0 RASSF6 166824 broad.mit.edu 37 4 74453587 74453587 + Missense_Mutation SNP G G C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr4:74453587G>C uc003hhd.1 - 5 571 c.448C>G c.(448-450)CCT>GCT p.P150A RASSF6_uc003hhc.1_Missense_Mutation_p.P118A|RASSF6_uc010iik.1_Missense_Mutation_p.P118A|RASSF6_uc010iil.1_Missense_Mutation_p.P106A NM_201431 NP_958834 Q6ZTQ3 RASF6_HUMAN Ras association (RalGDS/AF-6) domain family 6 150 apoptosis|signal transduction protein binding pancreas(2) 2 Breast(15;0.00102) all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187) TCAGACATAGGAATCTGGGTC 0.373 NA 11 33 0 0 0.013537 0 0 G3BP2 9908 broad.mit.edu 37 4 76581018 76581018 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr4:76581018C>A uc003hir.2 - 6 644 c.479G>T c.(478-480)AGA>ATA p.R160I G3BP2_uc003his.2_Missense_Mutation_p.R160I|G3BP2_uc003hit.2_Missense_Mutation_p.R160I NM_012297 NP_036429 Q9UN86 G3BP2_HUMAN Ras-GTPase activating protein SH3 domain-binding 160 Glu-rich. cytoplasmic sequestering of NF-kappaB|mRNA transport|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol GTPase activator activity|nucleotide binding|receptor signaling complex scaffold activity|RNA binding breast(2)|central_nervous_system(1) 3 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) AGATGGTTGTCTTTCTTCTTG 0.363 NA 9 36 0.00621372 0.00680738 0.006214 1 0 FRAS1 80144 broad.mit.edu 37 4 79205600 79205600 + Missense_Mutation SNP G G C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr4:79205600G>C uc003hlb.2 + 13 1737 c.1297G>C c.(1297-1299)GAC>CAC p.D433H FRAS1_uc003hkw.2_Missense_Mutation_p.D433H|FRAS1_uc003hky.1_Missense_Mutation_p.D137H|FRAS1_uc003hkz.2_Missense_Mutation_p.D137H|FRAS1_uc003hla.1_5'Flank NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 433 FU 1.|Extracellular (Potential). cell communication integral to membrane|plasma membrane metal ion binding large_intestine(5) 5 TCAGTCTCCAGACCACTGTGA 0.458 NA 47 143 0 0 0.01441 0 0 FRAS1 80144 broad.mit.edu 37 4 79396752 79396752 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr4:79396752G>T uc003hlb.2 + 54 8283 c.7843G>T c.(7843-7845)GCT>TCT p.A2615S NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 2610 Calx-beta 1.|Extracellular (Potential). cell communication integral to membrane|plasma membrane metal ion binding large_intestine(5) 5 TGTAGAGTATGCTGGCCAGGT 0.577 NA 24 46 3.96558e-24 7.84e-24 0.004656 1 0 UNC5C 8633 broad.mit.edu 37 4 96091391 96091391 + Silent SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr4:96091391G>T uc003htp.1 - 15 2698 c.2544C>A c.(2542-2544)ATC>ATA p.I848I uc003hto.2_5'Flank NM_003728 NP_003719 O95185 UNC5C_HUMAN unc5C precursor 848 Cytoplasmic (Potential). apoptosis|axon guidance|brain development integral to membrane netrin receptor activity ovary(3)|pancreas(1) 4 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) GCTTCTGCCGGATAGGGAGAG 0.592 NA 35 99 1.47244e-24 2.92787e-24 0.00623 1 0 PDHA2 5161 broad.mit.edu 37 4 96761915 96761915 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr4:96761915C>A uc003htr.3 + 1 677 c.614C>A c.(613-615)GCT>GAT p.A205D NM_005390 NP_005381 P29803 ODPAT_HUMAN pyruvate dehydrogenase E1 alpha 2 precursor 205 glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity central_nervous_system(1) 1 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.23e-06) NADH(DB00157) ATAGCCGAAGCTTTCAATATG 0.458 NA 10 41 7.48243e-07 1.07248e-06 0.006214 1 0 ADH1B 125 broad.mit.edu 37 4 100237122 100237122 + Missense_Mutation SNP A A T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr4:100237122A>T uc003hus.3 - 5 584 c.500T>A c.(499-501)CTG>CAG p.L167Q ADH1A_uc011ceg.1_Intron|ADH1B_uc003hut.3_Missense_Mutation_p.L127Q|ADH1B_uc011ceh.1_Missense_Mutation_p.L12Q|ADH1B_uc011cei.1_Missense_Mutation_p.L127Q NM_000668 NP_000659 P00325 ADH1B_HUMAN class I alcohol dehydrogenase, beta subunit 167 ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|zinc ion binding ovary(1)|breast(1) 2 OV - Ovarian serous cystadenocarcinoma(123;1.02e-07) Fomepizole(DB01213)|NADH(DB00157) GACTTTCTCCAGGGGCGAGGC 0.522 NA 8 81 0 0 0.00308 0 0 COL25A1 84570 broad.mit.edu 37 4 109769934 109769934 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr4:109769934G>T uc003hze.1 - 26 1946 c.1415C>A c.(1414-1416)CCA>CAA p.P472Q COL25A1_uc003hzg.2_Missense_Mutation_p.P472Q|COL25A1_uc003hzd.2_RNA|COL25A1_uc003hzf.2_Missense_Mutation_p.P230Q NM_198721 NP_942014 Q9BXS0 COPA1_HUMAN collagen, type XXV, alpha 1 isoform 1 472 Extracellular (Potential).|Collagen-like 6. collagen|extracellular space beta-amyloid binding|heparin binding ovary(2) 2 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000173) ATCCATTCCTGGGATTCCTGG 0.353 NA 7 29 2.74318e-10 4.56975e-10 0.006214 1 0 ANK2 287 broad.mit.edu 37 4 113970941 113970941 + Missense_Mutation SNP T T A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr4:113970941T>A uc003ibe.3 + 1 157 c.57T>A c.(55-57)AGT>AGA p.S19R ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Missense_Mutation_p.S19R|ANK2_uc003ibc.2_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.S19R NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 19 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) TCAACGGCAGTAGTCAGAGGA 0.338 NA 4 21 0 0 0.009096 0 0 ANK2 287 broad.mit.edu 37 4 114254230 114254230 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr4:114254230C>A uc003ibe.3 + 29 3345 c.3245C>A c.(3244-3246)CCT>CAT p.P1082H ANK2_uc003ibd.3_Missense_Mutation_p.P1073H|ANK2_uc003ibf.3_Missense_Mutation_p.P1082H|ANK2_uc011cgc.1_Missense_Mutation_p.P258H|ANK2_uc003ibg.3_Missense_Mutation_p.P77H|ANK2_uc003ibc.2_Missense_Mutation_p.P1058H|ANK2_uc011cgb.1_Missense_Mutation_p.P1097H NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 1049 ZU5.|Interaction with SPTBN1. axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) GTGGAGATCCCTCACTTTGCG 0.507 NA 21 46 1.96292e-10 3.28587e-10 0.010504 1 0 ANKRD50 57182 broad.mit.edu 37 4 125591053 125591053 + Missense_Mutation SNP T T C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr4:125591053T>C uc003ifg.3 - 3 3645 c.3379A>G c.(3379-3381)AAA>GAA p.K1127E ANKRD50_uc011cgo.1_Missense_Mutation_p.K948E|ANKRD50_uc010inw.2_Missense_Mutation_p.K1127E NM_020337 NP_065070 Q9ULJ7 ANR50_HUMAN ankyrin repeat domain 50 1127 Ser-rich. central_nervous_system(1) 1 GACTGCACTTTTGAAGACAAT 0.398 NA 6 74 0 0 0.001168 0 0 FAT4 79633 broad.mit.edu 37 4 126337697 126337697 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr4:126337697G>T uc003ifj.3 + 6 6938 c.6938G>T c.(6937-6939)AGT>ATT p.S2313I FAT4_uc011cgp.1_Missense_Mutation_p.S611I NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 2313 Extracellular (Potential).|Cadherin 22. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 CTCTCAGCCAGTGGAGAACTT 0.433 NA 10 82 4.68919e-08 7.18522e-08 0.008291 1 0 PCDH18 54510 broad.mit.edu 37 4 138442469 138442469 + Missense_Mutation SNP G G A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr4:138442469G>A uc003ihe.3 - 4 3509 c.3122C>T c.(3121-3123)CCC>CTC p.P1041L PCDH18_uc003ihf.3_Missense_Mutation_p.P1033L|PCDH18_uc011cgz.1_Missense_Mutation_p.P252L|PCDH18_uc003ihg.3_Missense_Mutation_p.P820L|PCDH18_uc011cha.1_Missense_Mutation_p.P221L NM_019035 NP_061908 Q9HCL0 PCD18_HUMAN protocadherin 18 precursor 1041 Interaction with DAB1 (By similarity).|Cytoplasmic (Potential). brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding pancreas(3)|skin(2) 5 all_hematologic(180;0.24) GGCTGGCAAGGGTCCCTTCCT 0.577 NA 5 39 0 0 0.000602 0 0 FGA 2243 broad.mit.edu 37 4 155505732 155505732 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr4:155505732G>T uc003iod.1 - 6 2203 c.2145C>A c.(2143-2145)CAC>CAA p.H715Q NM_000508 NP_000499 P02671 FIBA_HUMAN fibrinogen, alpha polypeptide isoform alpha-E 715 Fibrinogen C-terminal. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding ovary(2)|breast(1) 3 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) GGGTTAGTAAGTGGAGGTAGT 0.502 NSCLC(143;340 1922 20892 22370 48145) NA 19 85 1.33834e-09 2.15638e-09 0.007413 1 0 ANP32C 23520 broad.mit.edu 37 4 165118411 165118411 + Silent SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr4:165118411G>T uc011cjk.1 - 1 453 c.453C>A c.(451-453)GCC>GCA p.A151A MARCH1_uc003iqs.1_Intron NM_012403 NP_036535 O43423 AN32C_HUMAN acidic nuclear phosphoprotein 32C 151 0 all_hematologic(180;0.203) Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223) KIRC - Kidney renal clear cell carcinoma(143;0.242) CTGAGTAAGGGGCCTCCTTGT 0.498 NA 16 54 2.23348e-06 3.12961e-06 0.004007 1 0 GK3P 2713 broad.mit.edu 37 4 166200437 166200437 + Missense_Mutation SNP A A T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr4:166200437A>T uc003ird.3 - 1 739 c.361T>A c.(361-363)TCT>ACT p.S121T KLHL2_uc003irb.2_Intron|KLHL2_uc011cjm.1_Intron|KLHL2_uc003irc.2_Intron|KLHL2_uc010ira.2_Intron NM_000167 NP_000158 glycerol kinase isoform b 0 TCAACGGTAGACTGTGTTCTT 0.443 NA 12 187 0 0 0.013537 0 0 CPE 1363 broad.mit.edu 37 4 166405732 166405732 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr4:166405732G>T uc003irg.3 + 5 1226 c.949G>T c.(949-951)GGT>TGT p.G317C NM_001873 NP_001864 P16870 CBPE_HUMAN carboxypeptidase E preproprotein 317 cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process extracellular region|nucleus|plasma membrane metallocarboxypeptidase activity|protein binding|zinc ion binding large_intestine(1)|ovary(1)|skin(1) 3 all_hematologic(180;0.221) Prostate(90;0.0962)|Melanoma(52;0.18) GBM - Glioblastoma multiforme(119;0.137) Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CACCAACGGTGGTGCTTGGTA 0.463 NA 35 179 1.36615e-20 2.67019e-20 0.013726 1 0 ADAM29 11086 broad.mit.edu 37 4 175898230 175898230 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr4:175898230G>T uc003iuc.2 + 5 2224 c.1554G>T c.(1552-1554)GAG>GAT p.E518D ADAM29_uc003iud.2_Missense_Mutation_p.E518D|ADAM29_uc010irr.2_Missense_Mutation_p.E518D|ADAM29_uc011cki.1_Missense_Mutation_p.E518D NM_014269 NP_055084 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 preproprotein 518 Cys-rich.|Extracellular (Potential). proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1) 16 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) CTGCAAGTGAGACTTGCTACA 0.433 Ovarian(140;1727 1835 21805 25838 41440) NA 11 46 1.08611e-07 1.63869e-07 0.010729 1 0 NEIL3 55247 broad.mit.edu 37 4 178243616 178243616 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr4:178243616G>T uc003iut.2 + 2 277 c.160G>T c.(160-162)GCT>TCT p.A54S NEIL3_uc010irs.2_Intron NM_018248 NP_060718 Q8TAT5 NEIL3_HUMAN nei endonuclease VIII-like 3 54 base-excision repair|nucleotide-excision repair nucleus bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding lung(2)|ovary(1)|central_nervous_system(1) 4 Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164) all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191) CCACTAGGCTGCTGCACTGAA 0.378 NA BER_DNA_glycosylases 15 85 3.45872e-05 4.55862e-05 0.004007 1 0 KLKB1 3818 broad.mit.edu 37 4 187179309 187179309 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr4:187179309G>T uc003iyy.2 + 15 1931 c.1860G>T c.(1858-1860)TGG>TGT p.W620C KLKB1_uc011clc.1_Missense_Mutation_p.W418C|KLKB1_uc011cld.1_3'UTR NM_000892 NP_000883 P03952 KLKB1_HUMAN plasma kallikrein B1 precursor 620 Peptidase S1. blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis cytoplasm|extracellular space|plasma membrane serine-type endopeptidase activity ovary(1) 1 all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168) ACATGGACTGGATTTTAGAGA 0.502 NA 12 38 7.03913e-09 1.10569e-08 0.013537 1 0 ADCY2 108 broad.mit.edu 37 5 7826866 7826866 + Missense_Mutation SNP T T A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr5:7826866T>A uc003jdz.1 + 25 3225 c.3158T>A c.(3157-3159)CTC>CAC p.L1053H ADCY2_uc011cmo.1_Missense_Mutation_p.L873H|ADCY2_uc010itm.1_Missense_Mutation_p.L249H NM_020546 NP_065433 Q08462 ADCY2_HUMAN adenylate cyclase 2 1053 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding ovary(5)|pancreas(1)|skin(1) 7 CTGCAGACCCTCGGATACACG 0.453 NA 6 42 0 0 0.001984 0 0 CTNND2 1501 broad.mit.edu 37 5 11082891 11082891 + Missense_Mutation SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr5:11082891C>T uc003jfa.1 - 16 2850 c.2705G>A c.(2704-2706)CGA>CAA p.R902Q CTNND2_uc010itt.2_Missense_Mutation_p.R811Q|CTNND2_uc011cmy.1_Missense_Mutation_p.R565Q|CTNND2_uc011cmz.1_Missense_Mutation_p.R469Q|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.R494Q NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 902 ARM 8. multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1) 8 ATTGTCTATTCGGAGCAGCTC 0.547 NA 4 58 0 0 0.009096 0 0 PRDM9 56979 broad.mit.edu 37 5 23527018 23527018 + Silent SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr5:23527018C>T uc003jgo.2 + 11 2003 c.1821C>T c.(1819-1821)CCC>CCT p.P607P NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 607 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding ovary(3)|large_intestine(2)|pancreas(1) 6 GGGAGAAGCCCTATGTCTGCA 0.607 NA HNSCC(3;0.000094) 7 88 0 0 0.004482 0 0 CDH10 1008 broad.mit.edu 37 5 24509888 24509888 + Missense_Mutation SNP A A T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr5:24509888A>T uc003jgr.1 - 7 1375 c.1043T>A c.(1042-1044)GTC>GAC p.V348D CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 348 Cadherin 3.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) TTCTGCTTCGACTTTCAGAGT 0.378 NA HNSCC(23;0.051) 4 36 0 0 0.000602 0 0 CDH9 1007 broad.mit.edu 37 5 26881513 26881513 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr5:26881513C>A uc003jgs.1 - 12 2271 c.2102G>T c.(2101-2103)AGG>ATG p.R701M CDH9_uc011cnv.1_Missense_Mutation_p.R294M NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 preproprotein 701 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1) 9 CACAGTCCTCCTTATCTGAAA 0.408 Melanoma(8;187 585 15745 40864 52829) NA 49 60 6.17242e-35 1.2417e-34 0.01441 1 0 CDH6 1004 broad.mit.edu 37 5 31302382 31302382 + Nonsense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr5:31302382G>T uc003jhe.1 + 6 1302 c.976G>T c.(976-978)GAA>TAA p.E326* CDH6_uc003jhd.1_Nonsense_Mutation_p.E326* NM_004932 NP_004923 P55285 CADH6_HUMAN cadherin 6, type 2 preproprotein 326 Cadherin 3.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding ovary(4)|skin(2)|large_intestine(1) 7 GGAAACCCAGGAAGGGATTAT 0.453 NA 5 47 0.000602214 0.000707037 0.000602 1 0 ADAMTS12 81792 broad.mit.edu 37 5 33549375 33549375 + Silent SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr5:33549375G>T uc003jia.1 - 21 4402 c.4239C>A c.(4237-4239)CCC>CCA p.P1413P ADAMTS12_uc010iuq.1_Silent_p.P1328P NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 1413 TSP type-1 6. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 TGCTCAATGGGGGAGGAATGC 0.612 NA HNSCC(64;0.19) 14 87 1.52009e-12 2.70238e-12 0.003163 1 0 ADAMTS12 81792 broad.mit.edu 37 5 33614446 33614446 + Silent SNP A A G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr5:33614446A>G uc003jia.1 - 16 2587 c.2424T>C c.(2422-2424)TAT>TAC p.Y808Y ADAMTS12_uc010iuq.1_Silent_p.Y723Y NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 808 Spacer 1. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 TTGTGTACTCATACTTGATGC 0.468 NA HNSCC(64;0.19) 4 46 0 0 0.009096 0 0 SPEF2 79925 broad.mit.edu 37 5 35727880 35727880 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr5:35727880G>T uc003jjo.2 + 21 3129 c.3018G>T c.(3016-3018)AAG>AAT p.K1006N SPEF2_uc003jjp.1_Missense_Mutation_p.K492N NM_024867 NP_079143 Q9C093 SPEF2_HUMAN KPL2 protein isoform 1 1006 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity skin(2)|ovary(1)|central_nervous_system(1) 4 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AGCCACCTAAGCCAGGATCAG 0.428 NA 18 60 0.00152264 0.0017518 0.010504 1 0 UGT3A2 167127 broad.mit.edu 37 5 36052038 36052038 + Missense_Mutation SNP G G A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr5:36052038G>A uc003jjz.1 - 3 338 c.245C>T c.(244-246)CCT>CTT p.P82L UGT3A2_uc011cos.1_Missense_Mutation_p.P48L|UGT3A2_uc011cot.1_5'UTR NM_174914 NP_777574 Q3SY77 UD3A2_HUMAN UDP glycosyltransferase 3 family, polypeptide A2 82 Extracellular (Potential). integral to membrane glucuronosyltransferase activity ovary(2)|skin(2)|large_intestine(1)|pancreas(1) 6 all_lung(31;0.000179) Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) ATGATCTTCAGGTGCAAGCCA 0.294 NA 20 37 0 0 0.012319 0 0 C5orf30 90355 broad.mit.edu 37 5 102611912 102611912 + Missense_Mutation SNP G G A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr5:102611912G>A uc003kog.1 + 3 561 c.292G>A c.(292-294)GCA>ACA p.A98T C5orf30_uc003koh.1_Missense_Mutation_p.A98T NM_033211 NP_149988 Q96GV9 CE030_HUMAN hypothetical protein LOC90355 98 0 all_cancers(142;2.22e-05)|all_epithelial(76;9.54e-08)|Prostate(80;0.0174)|Colorectal(57;0.0551)|Ovarian(225;0.11)|Lung NSC(167;0.136)|all_lung(232;0.18) Epithelial(69;2.84e-14)|COAD - Colon adenocarcinoma(37;0.00762) ACAGCTAGATGCAGGACTTGC 0.527 NA 6 24 0 0 0.001168 0 0 WDR36 134430 broad.mit.edu 37 5 110438058 110438058 + Missense_Mutation SNP C C G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr5:110438058C>G uc003kpd.2 + 6 842 c.725C>G c.(724-726)ACA>AGA p.T242R WDR36_uc010jbu.2_RNA NM_139281 NP_644810 Q8NI36 WDR36_HUMAN WD repeat domain 36 242 WD 2. response to stimulus|rRNA processing|visual perception small-subunit processome ovary(1)|skin(1) 2 all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111) CTTCTATATACATTTCCAGGA 0.303 NA 5 40 0 0 0.000602 0 0 KCNN2 3781 broad.mit.edu 37 5 113698508 113698508 + Silent SNP G G A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr5:113698508G>A uc003kqo.2 + 1 493 c.36G>A c.(34-36)CGG>CGA p.R12R NM_021614 NP_067627 Q9H2S1 KCNN2_HUMAN small conductance calcium-activated potassium 12 integral to membrane calmodulin binding|small conductance calcium-activated potassium channel activity ovary(2) 2 all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206) OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195) GCGTCATGCGGCCGCTCAGCA 0.597 NA 4 18 0 0 0.009096 0 0 PCDHA1 56147 broad.mit.edu 37 5 140166634 140166634 + Missense_Mutation SNP G G C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr5:140166634G>C uc003lhb.2 + 1 759 c.759G>C c.(757-759)GAG>GAC p.E253D PCDHA1_uc003lha.2_Missense_Mutation_p.E253D|PCDHA1_uc003lgz.2_Missense_Mutation_p.E253D NM_018900 NP_061723 Q9Y5I3 PCDA1_HUMAN protocadherin alpha 1 isoform 1 precursor 253 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACTTGTTAGAGACTACAGCAA 0.468 NA 9 56 0 0 0.008291 0 0 PCDHA3 56145 broad.mit.edu 37 5 140182910 140182910 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr5:140182910C>A uc003lhf.2 + 1 2128 c.2128C>A c.(2128-2130)CTG>ATG p.L710M PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.L710M NM_018906 NP_061729 Q9Y5H8 PCDA3_HUMAN protocadherin alpha 3 isoform 1 precursor 710 Helical; (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(6)|skin(2) 8 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTGTCCAGTCTGTTGGTGCT 0.657 NA 9 99 0.000442599 0.000527744 0.006214 1 0 PCDHA5 56143 broad.mit.edu 37 5 140202993 140202993 + Missense_Mutation SNP G G A rs143450009 TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr5:140202993G>A uc003lhl.2 + 1 1633 c.1633G>A c.(1633-1635)GGC>AGC p.G545S PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Missense_Mutation_p.G545S|PCDHA5_uc003lhj.1_Missense_Mutation_p.G545S NM_018908 NP_061731 Q9Y5H7 PCDA5_HUMAN protocadherin alpha 5 isoform 1 precursor 545 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(1)|breast(1)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCGCCTCTGGGCAGCAACGT 0.701 NA 11 73 0 0 0.001855 0 0 PCDHGA3 56112 broad.mit.edu 37 5 140723874 140723874 + Silent SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr5:140723874C>A uc003ljm.1 + 1 274 c.274C>A c.(274-276)CGG>AGG p.R92R PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_5'UTR|PCDHGA3_uc011dap.1_Silent_p.R92R NM_018916 NP_061739 Q9Y5H0 PCDG3_HUMAN protocadherin gamma subfamily A, 3 isoform 1 92 Cadherin 1.|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) GAGGATAGACCGGGAGGAGCT 0.498 NA 10 46 0.00621372 0.00680738 0.006214 1 0 PCDHGA7 56108 broad.mit.edu 37 5 140763824 140763824 + Missense_Mutation SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr5:140763824C>T uc003lka.1 + 1 1358 c.1358C>T c.(1357-1359)CCC>CTC p.P453L 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_uc003ljz.1_Missense_Mutation_p.P453L NM_018920 NP_061743 Q9Y5G6 PCDG7_HUMAN protocadherin gamma subfamily A, 7 isoform 1 453 Extracellular (Potential).|Cadherin 5. 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) CCCACCTTCCCCCACTCATCC 0.527 NA 6 38 0 0 0.001168 0 0 FAT2 2196 broad.mit.edu 37 5 150901610 150901610 + Missense_Mutation SNP G G T rs142141788 byFrequency TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr5:150901610G>T uc003lue.3 - 18 10557 c.10544C>A c.(10543-10545)ACG>AAG p.T3515K GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Missense_Mutation_p.T208K NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 3515 Extracellular (Potential).|Cadherin 31. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ACGGACAGACGTCAAAGACGA 0.562 NA 5 9 3.59834e-05 4.69764e-05 0.001168 1 0 GLRA1 2741 broad.mit.edu 37 5 151239524 151239524 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr5:151239524G>T uc003lut.2 - 4 585 c.298C>A c.(298-300)CGC>AGC p.R100S GLRA1_uc003lur.2_Missense_Mutation_p.R100S|GLRA1_uc003lus.2_Missense_Mutation_p.R17S NM_001146040 NP_001139512 P23415 GLRA1_HUMAN glycine receptor, alpha 1 isoform 1 precursor 100 Extracellular (Probable). muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity ovary(1)|central_nervous_system(1) 2 all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) TAGGCCAGGCGGGGGTCGTTC 0.522 NA 10 44 2.17888e-05 2.89955e-05 0.006214 1 0 RANBP17 64901 broad.mit.edu 37 5 170341170 170341170 + Splice_Site SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr5:170341170G>T uc003mba.2 + 8 777 c.761_splice c.e8-1 p.I254_splice RANBP17_uc003max.1_Splice_Site|RANBP17_uc003may.1_Splice_Site|RANBP17_uc003maz.1_Splice_Site|RANBP17_uc010jjr.1_Splice_Site NM_022897 NP_075048 Q9H2T7 RBP17_HUMAN RAN binding protein 17 mRNA transport|protein import into nucleus|transmembrane transport cytoplasm|nuclear pore GTP binding|protein transporter activity ovary(2)|central_nervous_system(1) 3 Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TTTTTTCCCAGTTTTCCTGGA 0.333 NA T TRD@ ALL 3 32 0.00024832 0.000303453 0.009096 1 0 STC2 8614 broad.mit.edu 37 5 172745171 172745171 + Silent SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr5:172745171C>T uc003mco.1 - 4 1898 c.588G>A c.(586-588)CAG>CAA p.Q196Q STC2_uc003mcn.1_Silent_p.Q111Q NM_003714 NP_003705 O76061 STC2_HUMAN stanniocalcin 2 precursor 196 cell surface receptor linked signaling pathway|cell-cell signaling extracellular region hormone activity skin(2)|ovary(1) 3 Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) TCTGCTCACACTGAACCTGCA 0.607 NA 11 13 0 0 0.010729 0 0 CDHR2 54825 broad.mit.edu 37 5 176017662 176017663 + Missense_Mutation DNP CA CA AT TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 CA CA - - CA CA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr5:176017662_176017663CA>AT uc003mem.1 + 28 3579_3580 c.3513_3514CA>AT c.(3511-3516)ACCATG>ACATTG p.M1172L CDHR2_uc003men.1_Missense_Mutation_p.M1172L NM_017675 NP_060145 Q9BYE9 CDHR2_HUMAN protocadherin LKC precursor 1172 Helical; (Potential). homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding ovary(2) 2 TGATCATGACCATGGCCTTCGT 0.584 NA 4 45 0 0 0.004672 0 0 FLT4 2324 broad.mit.edu 37 5 180057088 180057088 + Nonsense_Mutation SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr5:180057088C>T uc003mma.3 - 5 610 c.531G>A c.(529-531)TGG>TGA p.W177* FLT4_uc003mlz.3_Nonsense_Mutation_p.W177*|FLT4_uc003mmb.1_5'Flank|FLT4_uc011dgy.1_Nonsense_Mutation_p.W177*|FLT4_uc011dgz.1_Nonsense_Mutation_p.W177*|FLT4_uc011dha.1_Missense_Mutation_p.G161D NM_002020 NP_002011 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 isoform 2 177 Ig-like C2-type 2.|Extracellular (Potential). positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1) 15 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) GCCCGTCTGGCCACAGCACCG 0.672 Colon(97;1075 1466 27033 27547 35871) NA Congenital_Hereditary_Lymphedema 6 33 0 0 0.001984 0 0 ZKSCAN3 80317 broad.mit.edu 37 6 28327735 28327735 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr6:28327735G>T uc003nle.3 + 2 588 c.372G>T c.(370-372)TTG>TTT p.L124F ZKSCAN3_uc010jrc.2_Missense_Mutation_p.L124F|ZKSCAN3_uc003nlf.3_Intron NM_024493 NP_077819 Q9BRR0 ZKSC3_HUMAN zinc finger with KRAB and SCAN domains 3 124 SCAN box. positive regulation of transcription, DNA-dependent|viral reproduction nucleus chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(2) 2 TGGAGTATTTGGAGAGGCAGC 0.582 NA 6 27 9.70103e-10 1.58912e-09 0.008291 1 0 OR10C1 442194 broad.mit.edu 37 6 29408311 29408311 + Silent SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr6:29408311C>A uc011dlp.1 + 1 519 c.519C>A c.(517-519)ATC>ATA p.I173I OR11A1_uc010jrh.1_Intron NM_013941 NP_039229 Q96KK4 O10C1_HUMAN olfactory receptor, family 10, subfamily C, 173 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CCAATACCATCCCGCAGTTCT 0.587 NA 39 69 1.04594e-18 2.02137e-18 0.00623 1 0 OR2H1 26716 broad.mit.edu 37 6 29429607 29429607 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr6:29429607C>A uc003nmi.2 + 3 504 c.61C>A c.(61-63)CTG>ATG p.L21M OR2H1_uc003nmj.1_Missense_Mutation_p.L21M|OR2H1_uc010jri.1_Intron NM_030883 NP_112145 Q9GZK4 OR2H1_HUMAN olfactory receptor, family 2, subfamily H, 21 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 ACACCCAGCACTGGAAAGGAC 0.537 NA 16 155 1.45105e-14 2.69817e-14 0.006122 1 0 PACSIN1 29993 broad.mit.edu 37 6 34497300 34497300 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr6:34497300G>T uc003ojo.2 + 5 789 c.583G>T c.(583-585)GTG>TTG p.V195L PACSIN1_uc003ojp.2_Missense_Mutation_p.V195L NM_020804 NP_065855 Q9BY11 PACN1_HUMAN protein kinase C and casein kinase substrate in 195 Potential. endocytosis protein kinase activity 0 GCAGGACAAAGTGGACAAGTG 0.587 NA 15 32 3.45872e-05 4.55862e-05 0.004007 1 0 C6orf89 221477 broad.mit.edu 37 6 36839662 36839662 + Translation_Start_Site SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr6:36839662G>T uc003omv.2 + 1 17 c.-649G>T c.(-651--647)GAGGA>GATGA PPIL1_uc003omu.2_Intron Q6UWU4 CF089_HUMAN SubName: Full=Chromosome 6 open reading frame 89; SubName: Full=Chromosome 6 open reading frame 89, isoform CRA_a; integral to membrane ovary(1) 1 CAGAGGGAGAGGACAACAGCT 0.463 NA 7 25 1.6384e-10 2.76279e-10 0.001984 1 0 GLP1R 2740 broad.mit.edu 37 6 39034045 39034045 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr6:39034045C>A uc003ooj.3 + 5 535 c.475C>A c.(475-477)CTG>ATG p.L159M GLP1R_uc003ooh.2_RNA|GLP1R_uc003ooi.2_RNA NM_002062 NP_002053 P43220 GLP1R_HUMAN glucagon-like peptide 1 receptor precursor 159 Helical; Name=1; (Potential). activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion integral to membrane|plasma membrane glucagon receptor activity|peptide receptor activity, G-protein coupled lung(3)|breast(1)|pancreas(1) 5 Exenatide(DB01276)|Glucagon recombinant(DB00040) CTTCTCTGCTCTGGTTATCGC 0.597 NA 6 29 3.59834e-05 4.69764e-05 0.001168 1 0 LRFN2 57497 broad.mit.edu 37 6 40400435 40400436 + Missense_Mutation DNP CG CG TT rs139467631 by1000genomes TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 CG CG - - CG CG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr6:40400435_40400436CG>TT uc003oph.1 - 2 882_883 c.417_418CG>AA c.(415-420)ATCGCA>ATAACA p.A140T NM_020737 NP_065788 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III 140 LRR 4.|Extracellular (Potential). cell junction|integral to membrane|postsynaptic membrane ovary(2)|skin(1) 3 Ovarian(28;0.0418)|Colorectal(47;0.196) GCCTCATCTGCGATGCCGCCCA 0.589 NA 11 19 0 0 0.004672 0 0 GPR111 222611 broad.mit.edu 37 6 47649585 47649585 + Silent SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr6:47649585C>A uc010jzj.1 + 6 1291 c.1290C>A c.(1288-1290)ACC>ACA p.T430T GPR111_uc010jzk.1_Silent_p.T362T|GPR111_uc003oyy.2_RNA NM_153839 NP_722581 Q8IZF7 GP111_HUMAN G-protein coupled receptor 111 430 Extracellular (Potential).|GPS. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity skin(1) 1 AATTGTTTACCTCTTTCTCAA 0.438 NA 7 61 0.00448238 0.00501444 0.004482 1 0 GPR115 221393 broad.mit.edu 37 6 47681803 47681803 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr6:47681803G>T uc003oza.1 + 6 1080 c.822G>T c.(820-822)CAG>CAT p.Q274H GPR115_uc003oyz.1_Missense_Mutation_p.Q331H|GPR115_uc003ozb.1_Missense_Mutation_p.Q272H NM_153838 NP_722580 Q8IZF3 GP115_HUMAN G-protein coupled receptor 115 precursor 274 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 GAATGGTACAGATTCCCAGGC 0.458 GBM(22;431 510 9010 26644 32828) NA 18 26 2.35188e-11 4.0861e-11 0.006122 1 0 PGK2 5232 broad.mit.edu 37 6 49754005 49754005 + Missense_Mutation SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr6:49754005C>T uc003ozu.2 - 1 1003 c.896G>A c.(895-897)GGA>GAA p.G299E NM_138733 NP_620061 P07205 PGK2_HUMAN phosphoglycerate kinase 2 299 glycolysis cytosol ATP binding|phosphoglycerate kinase activity ovary(1) 1 Lung NSC(77;0.0402) AGTGGCTTTTCCAACCTGAGC 0.453 NA 47 87 0 0 0.01441 0 0 TFAP2B 7021 broad.mit.edu 37 6 50810845 50810845 + Silent SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr6:50810845C>A uc003pag.2 + 7 1289 c.1123C>A c.(1123-1125)CGG>AGG p.R375R NM_003221 NP_003212 Q92481 AP2B_HUMAN transcription factor AP-2 beta 375 QLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLIT HGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTS GEGPGSKTGDKEEKHRK -> GNFVKNLRIYWRRTGHR (in Ref. 1; CAA71047). nervous system development|positive regulation of transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity 0 Lung NSC(77;0.156) GGCGCAGGACCGGACACCGAT 0.592 Pancreas(116;1373 2332 5475 10752) NA 30 98 1.7881e-09 2.86763e-09 0.008361 1 0 COL19A1 1310 broad.mit.edu 37 6 70900066 70900066 + Silent SNP G G A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr6:70900066G>A uc003pfc.1 + 48 3192 c.3075G>A c.(3073-3075)GAG>GAA p.E1025E NM_001858 NP_001849 Q14993 COJA1_HUMAN alpha 1 type XIX collagen precursor 1025 cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging ovary(2)|breast(2) 4 TTAATCAAGAGGTCCTAAGGA 0.209 NA 4 12 0 0 0.000602 0 0 SCML4 256380 broad.mit.edu 37 6 108066261 108066261 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr6:108066261G>T uc010kdf.2 - 5 825 c.574C>A c.(574-576)CTG>ATG p.L192M SCML4_uc003prz.3_Missense_Mutation_p.L134M|SCML4_uc011eam.1_Missense_Mutation_p.L192M|SCML4_uc003psa.3_Missense_Mutation_p.L163M NM_198081 NP_932347 Q8N228 SCML4_HUMAN sex comb on midleg-like 4 192 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(1) 1 all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316) BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758) CTTCGGCACAGCTTGGCGAGG 0.592 NA 3 13 0.004672 0.00515945 0.004672 1 0 DCBLD1 285761 broad.mit.edu 37 6 117864336 117864336 + Silent SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr6:117864336G>T uc003pxs.2 + 12 1532 c.1407G>T c.(1405-1407)CTG>CTT p.L469L GOPC_uc003pxq.1_Intron|DCBLD1_uc003pxr.1_Silent_p.L469L|DCBLD1_uc003pxt.1_Silent_p.L124L NM_173674 NP_775945 Q8N8Z6 DCBD1_HUMAN discoidin, CUB and LCCL domain containing 1 469 Helical; (Potential). cell adhesion integral to membrane ovary(1) 1 all_cancers(87;0.171) GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125) TTGTTGTCCTGGTGTTTGCTG 0.378 NA 20 71 3.62473e-10 6.02371e-10 0.012319 1 0 ECHDC1 55862 broad.mit.edu 37 6 127611329 127611329 + Silent SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr6:127611329G>T uc003qax.2 - 6 645 c.609C>A c.(607-609)ATC>ATA p.I203I ECHDC1_uc003qaz.3_Silent_p.I197I|ECHDC1_uc010key.2_Silent_p.I122I|ECHDC1_uc003qay.3_3'UTR|ECHDC1_uc010kez.2_3'UTR|ECHDC1_uc010kex.2_RNA NM_001139510 NP_001132982 Q9NTX5 ECHD1_HUMAN enoyl Coenzyme A hydratase domain containing 1 203 catalytic activity 0 GBM - Glioblastoma multiforme(226;0.0423)|all cancers(137;0.156) GTCTACTTCCGATTATTTCAA 0.443 NA 16 38 2.23348e-06 3.12961e-06 0.004007 1 0 C6orf115 58527 broad.mit.edu 37 6 139363914 139363914 + Silent SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr6:139363914C>T uc003qil.2 + 3 320 c.120C>T c.(118-120)GCC>GCT p.A40A C6orf115_uc003qim.2_Silent_p.A40A NM_021243 NP_067066 Q9P1F3 CF115_HUMAN hypothetical protein LOC58527 40 0 GBM - Glioblastoma multiforme(68;0.000278)|OV - Ovarian serous cystadenocarcinoma(155;0.000413) ATAAATGTGCCAACCTCTTTG 0.403 NA 18 61 0 0 0.008871 0 0 THBS2 7058 broad.mit.edu 37 6 169648888 169648888 + Missense_Mutation SNP A A G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr6:169648888A>G uc003qwt.2 - 4 481 c.233T>C c.(232-234)ATG>ACG p.M78T NM_003247 NP_003238 P35442 TSP2_HUMAN thrombospondin 2 precursor 78 TSP N-terminal.|Heparin-binding (Potential). cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity ovary(5) 5 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) CTTCTGCCGCATGATCTTGGT 0.647 Esophageal Squamous(91;219 1934 18562 44706) NA 16 21 0 0 0.003163 0 0 SUN1 23353 broad.mit.edu 37 7 883007 883007 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr7:883007G>T uc011jvp.1 + 6 587 c.508G>T c.(508-510)GGG>TGG p.G170W SUN1_uc010ksa.1_Missense_Mutation_p.G191W|SUN1_uc003sje.1_Missense_Mutation_p.G170W|SUN1_uc003sjf.2_Missense_Mutation_p.G120W|SUN1_uc011jvq.1_Intron|SUN1_uc003sjg.2_5'UTR NM_001130965 NP_001124437 O94901 SUN1_HUMAN unc-84 homolog A isoform a 170 Nuclear. cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane integral to membrane|nuclear inner membrane|SUN-KASH complex protein binding 0 TCAGGGAAACGGGGATGTGGG 0.527 NA 35 110 3.93418e-24 7.80034e-24 0.004289 1 0 ACTB 60 broad.mit.edu 37 7 5567995 5567995 + Missense_Mutation SNP T T C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr7:5567995T>C uc003sos.3 - 3 755 c.719A>G c.(718-720)TAC>TGC p.Y240C ACTB_uc003sor.3_Missense_Mutation_p.Y118C|ACTB_uc003sot.3_Missense_Mutation_p.Y240C|ACTB_uc003soq.3_Missense_Mutation_p.Y118C|ACTB_uc010ksy.2_Missense_Mutation_p.Y118C NM_001101 NP_001092 P60709 ACTB_HUMAN beta actin 240 'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton 0 Ovarian(82;0.0606) UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37) AGGCAGCTCGTAGCTCTTCTC 0.587 NA 21 66 0 0 0.008871 0 0 GLCCI1 113263 broad.mit.edu 37 7 8099853 8099853 + Missense_Mutation SNP A A G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr7:8099853A>G uc003srk.2 + 5 1500 c.941A>G c.(940-942)AAT>AGT p.N314S NM_138426 NP_612435 Q86VQ1 GLCI1_HUMAN glucocorticoid induced transcript 1 314 0 Ovarian(82;0.0608) UCEC - Uterine corpus endometrioid carcinoma (126;0.206) ATTAAAGAAAATAATGGGAAG 0.353 NA 13 46 0 0 0.003163 0 0 EEPD1 80820 broad.mit.edu 37 7 36336765 36336765 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr7:36336765G>T uc003tfa.2 + 7 2119 c.1479G>T c.(1477-1479)TGG>TGT p.W493C NM_030636 NP_085139 Q7L9B9 EEPD1_HUMAN endonuclease/exonuclease/phosphatase family 493 DNA repair DNA binding 0 ACAACATCTGGATCAGTAAAA 0.478 NA 7 28 5.18039e-06 7.1425e-06 0.00308 1 0 GLI3 2737 broad.mit.edu 37 7 42065849 42065849 + Silent SNP A A C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr7:42065849A>C uc011kbh.1 - 8 1282 c.1191T>G c.(1189-1191)CCT>CCG p.P397P GLI3_uc011kbg.1_Silent_p.P338P NM_000168 NP_000159 P10071 GLI3_HUMAN GLI-Kruppel family member GLI3 397 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1) 19 TCAGAACCGTAGGGATCCCTG 0.602 NA Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome 4 18 0 0 0.009096 0 0 OGDH 4967 broad.mit.edu 37 7 44737016 44737016 + Missense_Mutation SNP G G C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr7:44737016G>C uc003tln.2 + 16 2208 c.2099G>C c.(2098-2100)TGC>TCC p.C700S OGDH_uc011kbx.1_Missense_Mutation_p.C696S|OGDH_uc011kby.1_Missense_Mutation_p.C550S|OGDH_uc003tlp.2_Missense_Mutation_p.C711S|OGDH_uc011kbz.1_Missense_Mutation_p.C495S|OGDH_uc003tlo.1_Missense_Mutation_p.C533S NM_002541 NP_002532 Q02218 ODO1_HUMAN oxoglutarate dehydrogenase isoform 1 precursor 700 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding upper_aerodigestive_tract(1)|ovary(1) 2 NADH(DB00157) AAGAGAACCTGCATCCCCATG 0.537 NA 12 38 0 0 0.010729 0 0 ADCY1 107 broad.mit.edu 37 7 45719353 45719354 + Missense_Mutation DNP GG GG TT TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr7:45719353_45719354GG>TT uc003tne.3 + 11 1962_1963 c.1944_1945GG>TT c.(1942-1947)CTGGTG>CTTTTG p.V649L NM_021116 NP_066939 Q08828 ADCY1_HUMAN adenylate cyclase 1 649 Helical; (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) TCTGCTTCCTGGTGGCCTGTGT 0.559 NA 21 36 0 0 0.004672 0 0 POM121L12 285877 broad.mit.edu 37 7 53104079 53104079 + Missense_Mutation SNP A A T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr7:53104079A>T uc003tpz.2 + 1 731 c.715A>T c.(715-717)AGC>TGC p.S239C NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN POM121 membrane glycoprotein-like 12 239 0 TCTGAAGCCGAGCCTCGGCCC 0.647 NA 14 44 0 0 0.001855 0 0 ZNF479 90827 broad.mit.edu 37 7 57188132 57188132 + Missense_Mutation SNP A A C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr7:57188132A>C uc010kzo.2 - 5 1261 c.990T>G c.(988-990)TGT>TGG p.C330W NM_033273 NP_150376 Q96JC4 ZN479_HUMAN zinc finger protein 479 330 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(1) 4 GBM - Glioblastoma multiforme(1;9.18e-12) AGGCTTTGCCACATTCCTCAC 0.448 NA 15 35 0 0 0.00499 0 0 ZNF716 441234 broad.mit.edu 37 7 57528738 57528738 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr7:57528738G>T uc011kdi.1 + 4 683 c.571G>T c.(571-573)GGC>TGC p.G191C NM_001159279 NP_001152751 zinc finger protein 716 ovary(2) 2 TAAAAACGATGGCAAATCATT 0.338 NA 3 14 0.004672 0.00515945 0.004672 1 0 LOC643955 643955 broad.mit.edu 37 7 62758685 62758685 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr7:62758685C>A uc011kdj.1 - 2 193 c.125G>T c.(124-126)AGA>ATA p.R42I NR_003952 Homo sapiens cDNA clone IMAGE:30377995, containing frame-shift errors. 0 CATCACATGTCTATATAAATT 0.378 NA 31 69 9.65021e-13 1.729e-12 0.010818 1 0 ZNF117 51351 broad.mit.edu 37 7 64438556 64438556 + Missense_Mutation SNP T T A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr7:64438556T>A uc003ttr.2 - 4 2678 c.1393A>T c.(1393-1395)ATA>TTA p.I465L NM_015852 NP_056936 Q03924 ZN117_HUMAN zinc finger protein 117 465 C2H2-type 13. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 Lung NSC(55;0.0295)|all_lung(88;0.0691) GTATGAATTATCTTATGTGTA 0.353 NA 6 31 0 0 0.001168 0 0 WBSCR17 64409 broad.mit.edu 37 7 70885970 70885970 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr7:70885970G>T uc003tvy.2 + 5 841 c.841G>T c.(841-843)GAC>TAC p.D281Y WBSCR17_uc003tvz.2_5'UTR NM_022479 NP_071924 Q6IS24 GLTL3_HUMAN UDP-GalNAc:polypeptide 281 Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1) 7 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) CATCAAACAGGACAACTTTGA 0.557 NA 43 97 3.83281e-39 7.7558e-39 0.010771 1 0 TYW1B 441250 broad.mit.edu 37 7 72209576 72209576 + Missense_Mutation SNP C C G rs147711959 by1000genomes TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr7:72209576C>G uc011kej.1 - 8 1126 c.967G>C c.(967-969)GAT>CAT p.D323H TYW1B_uc011keh.1_Missense_Mutation_p.D161H|TYW1B_uc011kei.1_5'UTR|TYW1B_uc011kek.1_RNA NM_001145440 NP_001138912 Q6NUM6 TYW1B_HUMAN tRNA-yW synthesizing protein 1 homolog B isoform 323 tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity 0 CTCGGAGCATCGACTATGACA 0.413 NA 3 38 0 0 0.001168 0 0 PCLO 27445 broad.mit.edu 37 7 82581839 82581839 + Silent SNP T T G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr7:82581839T>G uc003uhx.2 - 5 8719 c.8430A>C c.(8428-8430)ACA>ACC p.T2810T PCLO_uc003uhv.2_Silent_p.T2810T|PCLO_uc010lec.2_5'Flank NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 2741 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 CTAGGCTTTCTGTGCCTGTAG 0.473 NA 6 45 0 0 0.001168 0 0 SEMA3D 223117 broad.mit.edu 37 7 84702316 84702316 + Missense_Mutation SNP G G C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr7:84702316G>C uc003uic.2 - 4 497 c.457C>G c.(457-459)CCA>GCA p.P153A SEMA3D_uc010led.2_Missense_Mutation_p.P153A|SEMA3D_uc010lee.1_Missense_Mutation_p.P153A NM_152754 NP_689967 O95025 SEM3D_HUMAN semaphorin 3D precursor 153 Sema. cell differentiation|nervous system development extracellular region|membrane receptor activity ovary(3)|large_intestine(2) 5 CCACATATTGGATGAAATGCT 0.328 Ovarian(63;442 1191 17318 29975 31528) NA 7 33 0 0 0.001984 0 0 CROT 54677 broad.mit.edu 37 7 86990876 86990876 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr7:86990876G>T uc003uit.2 + 5 656 c.411G>T c.(409-411)CAG>CAT p.Q137H CROT_uc003uiu.2_Missense_Mutation_p.Q165H NM_021151 NP_066974 Q9UKG9 OCTC_HUMAN peroxisomal carnitine O-octanoyltransferase 137 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport peroxisomal matrix carnitine O-octanoyltransferase activity ovary(2)|lung(1) 3 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) L-Carnitine(DB00583) ACTACTGGCAGCTATTAAGAA 0.408 NA 4 31 0.000602214 0.000707037 0.000602 1 0 ZNF804B 219578 broad.mit.edu 37 7 88966181 88966181 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr7:88966181G>T uc011khi.1 + 4 4423 c.3885G>T c.(3883-3885)TTG>TTT p.L1295F NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 1295 intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) TTCCTACATTGTTTGGTCCTC 0.443 NA HNSCC(36;0.09) 17 162 0.000566183 0.000673934 0.00499 1 0 CALCR 799 broad.mit.edu 37 7 93065450 93065450 + Silent SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr7:93065450C>A uc003umv.1 - 13 1326 c.1065G>T c.(1063-1065)CGG>CGT p.R355R CALCR_uc011kia.1_Silent_p.R135R|CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Silent_p.R321R|CALCR_uc003umw.2_Silent_p.R321R NM_001742 NP_001733 P30988 CALCR_HUMAN calcitonin receptor isoform 2 precursor 337 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus integral to plasma membrane calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding ovary(3)|lung(3)|skin(2)|pancreas(1) 9 all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207) STAD - Stomach adenocarcinoma(171;0.000244) Salmon Calcitonin(DB00017) TCACAAGCACCCGGACAATGT 0.453 NA 14 37 0.00316338 0.00356204 0.003163 1 0 NPTX2 4885 broad.mit.edu 37 7 98256507 98256507 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr7:98256507G>T uc003upl.2 + 4 1096 c.919G>T c.(919-921)GGC>TGC p.G307C NM_002523 NP_002514 P47972 NPTX2_HUMAN neuronal pentraxin II precursor 307 Pentaxin. synaptic transmission extracellular region metal ion binding|sugar binding central_nervous_system(2)|skin(1) 3 all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142) STAD - Stomach adenocarcinoma(171;0.215) TGTCAGTGACGGCAAGTGGCA 0.637 NA 13 25 7.93312e-07 1.13236e-06 0.00245 1 0 NPTX2 4885 broad.mit.edu 37 7 98256612 98256612 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr7:98256612C>A uc003upl.2 + 4 1201 c.1024C>A c.(1024-1026)CAC>AAC p.H342N NM_002523 NP_002514 P47972 NPTX2_HUMAN neuronal pentraxin II precursor 342 Pentaxin. synaptic transmission extracellular region metal ion binding|sugar binding central_nervous_system(2)|skin(1) 3 all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142) STAD - Stomach adenocarcinoma(171;0.215) GGCCCCCTGGCACCCCATCAA 0.657 NA 6 29 5.9392e-07 8.56639e-07 0.001168 1 0 GAL3ST4 79690 broad.mit.edu 37 7 99757655 99757655 + Missense_Mutation SNP G G T rs150667953 by1000genomes TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr7:99757655G>T uc003utt.2 - 3 2374 c.1357C>A c.(1357-1359)CGC>AGC p.R453S C7orf43_uc010lgp.2_5'Flank|C7orf43_uc011kjj.1_5'Flank|C7orf43_uc003utr.2_5'Flank|C7orf43_uc003uts.2_5'Flank|GAL3ST4_uc003utu.2_Missense_Mutation_p.R453S|GAL3ST4_uc010lgq.2_Missense_Mutation_p.R391S NM_024637 NP_078913 Q96RP7 G3ST4_HUMAN galactose-3-O-sulfotransferase 4 453 Lumenal (Potential). cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi cisterna membrane|integral to membrane|membrane fraction 3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity ovary(3) 3 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GTAGCTAGGCGCTCACATTCC 0.572 NA 22 42 1.64293e-13 3.00622e-13 0.00333 1 0 PILRA 29992 broad.mit.edu 37 7 99997503 99997503 + Silent SNP G G A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr7:99997503G>A uc003uuo.1 + 7 1097 c.885G>A c.(883-885)GAG>GAA p.E295E PILRA_uc011kjo.1_Missense_Mutation_p.D210N|PILRA_uc003uup.1_Silent_p.E222E|PILRA_uc003uuq.1_3'UTR NM_013439 NP_038467 Q9UKJ1 PILRA_HUMAN paired immunoglobulin-like type 2 receptor alpha 295 Cytoplasmic (Potential). interspecies interaction between organisms extracellular region|integral to membrane|plasma membrane protein binding|receptor activity p.E295K(1) skin(1) 1 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CCCAGAACGAGACCCTGTACT 0.473 NA 20 75 0 0 0.010504 0 0 ZAN 7455 broad.mit.edu 37 7 100348468 100348468 + Nonsense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr7:100348468C>A uc003uwj.2 + 12 1635 c.1470C>A c.(1468-1470)TAC>TAA p.Y490* ZAN_uc003uwk.2_Nonsense_Mutation_p.Y490*|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA NM_003386 NP_003377 Q9Y493 ZAN_HUMAN zonadhesin isoform 3 490 MAM 3.|Extracellular (Potential). binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2) 11 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) AGCGCCCTTACTGGCAGAACA 0.627 NA 3 19 0.000602214 0.000707037 0.000602 1 0 MUC17 140453 broad.mit.edu 37 7 100678117 100678117 + Silent SNP A A T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr7:100678117A>T uc003uxp.1 + 3 3473 c.3420A>T c.(3418-3420)TCA>TCT p.S1140S MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 1140 Extracellular (Potential).|59 X approximate tandem repeats.|17.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) AAGCCAGTTCATCTCCTACAA 0.542 NA 152 575 0 0 0.01441 0 0 SLC26A3 1811 broad.mit.edu 37 7 107423710 107423710 + Silent SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr7:107423710C>A uc003ver.2 - 9 1270 c.1059G>T c.(1057-1059)GTG>GTT p.V353V SLC26A3_uc003ves.2_Silent_p.V318V NM_000111 NP_000102 P40879 S26A3_HUMAN solute carrier family 26, member 3 353 Helical; (Potential). excretion integral to membrane|membrane fraction inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity ovary(3)|skin(1) 4 CTGAAAAGGCCACTGCAAATG 0.443 NA 18 28 1.99824e-07 2.9693e-07 0.00499 1 0 NRCAM 4897 broad.mit.edu 37 7 107816895 107816895 + Missense_Mutation SNP G G T rs147348539 TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr7:107816895G>T uc003vfb.2 - 27 3602 c.3131C>A c.(3130-3132)GCA>GAA p.A1044E NRCAM_uc003vfc.2_Missense_Mutation_p.A1028E|NRCAM_uc011kmk.1_Missense_Mutation_p.A1039E|NRCAM_uc003vfd.2_Missense_Mutation_p.A1020E|NRCAM_uc003vfe.2_Missense_Mutation_p.A1020E|NRCAM_uc011kmj.1_5'UTR NM_001037132 NP_001032209 Q92823 NRCAM_HUMAN neuronal cell adhesion molecule isoform A 1044 Fibronectin type-III 4.|Extracellular (Potential). angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly external side of plasma membrane|integral to plasma membrane ankyrin binding ovary(3)|breast(2) 5 AGTTGTTACTGCTTCCTCTGT 0.308 NA 14 58 1.15088e-07 1.72506e-07 0.004007 1 0 LRRN3 54674 broad.mit.edu 37 7 110764717 110764717 + Missense_Mutation SNP T T C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr7:110764717T>C uc003vft.3 + 4 2935 c.1889T>C c.(1888-1890)ATG>ACG p.M630T IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Missense_Mutation_p.M630T|LRRN3_uc003vfs.3_Missense_Mutation_p.M630T NM_001099660 NP_001093130 Q9H3W5 LRRN3_HUMAN leucine rich repeat neuronal 3 precursor 630 Helical; (Potential). integral to membrane skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1) 8 UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125) ACAACACTTATGGCCTGTCTT 0.413 NA 14 50 0 0 0.00245 0 0 IFRD1 3475 broad.mit.edu 37 7 112112292 112112292 + Nonsense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr7:112112292G>T uc003vgh.2 + 11 1503 c.1060G>T c.(1060-1062)GAA>TAA p.E354* IFRD1_uc011kmn.1_Nonsense_Mutation_p.E304*|IFRD1_uc003vgj.2_Nonsense_Mutation_p.E354*|IFRD1_uc011kmo.1_RNA|IFRD1_uc011kmp.1_Nonsense_Mutation_p.E304*|IFRD1_uc003vgk.2_Nonsense_Mutation_p.E71* NM_001007245 NP_001007246 O00458 IFRD1_HUMAN interferon-related developmental regulator 1 354 multicellular organismal development|myoblast cell fate determination binding kidney(1)|central_nervous_system(1) 2 TTTTCCAACAGAAACCATTAA 0.393 NA 18 41 0.00074312 0.000865087 0.006122 1 0 C7orf60 154743 broad.mit.edu 37 7 112579683 112579683 + Missense_Mutation SNP C C G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr7:112579683C>G uc003vgo.1 - 1 250 c.123G>C c.(121-123)AAG>AAC p.K41N C7orf60_uc011kms.1_Missense_Mutation_p.K41N NM_152556 NP_689769 Q1RMZ1 CG060_HUMAN hypothetical protein LOC154743 41 ovary(2)|skin(1) 3 GGTGGACGCTCTTCACCACAC 0.647 NA 4 43 0 0 0.009096 0 0 FOXP2 93986 broad.mit.edu 37 7 114269973 114269973 + Silent SNP A A G rs149757187 TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr7:114269973A>G uc003vhb.2 + 5 884 c.510A>G c.(508-510)CAA>CAG p.Q170Q FOXP2_uc003vgu.2_RNA|FOXP2_uc003vgz.2_Silent_p.Q195Q|FOXP2_uc003vha.2_Silent_p.Q78Q|FOXP2_uc011kmu.1_Silent_p.Q187Q|FOXP2_uc011kmv.1_Silent_p.Q170Q|FOXP2_uc010ljz.1_Silent_p.Q78Q|FOXP2_uc003vgt.1_RNA|FOXP2_uc003vgv.1_Silent_p.Q170Q|FOXP2_uc003vgx.2_Silent_p.Q170Q|FOXP2_uc003vhd.2_Silent_p.Q170Q|FOXP2_uc003vhc.2_Silent_p.Q195Q NM_014491 NP_055306 O15409 FOXP2_HUMAN forkhead box P2 isoform I 170 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1) 8 agcagcagcaacaacaacaac 0.164 NA 3 40 0 0 0.004672 0 0 SPAM1 6677 broad.mit.edu 37 7 123594058 123594058 + Missense_Mutation SNP T T C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr7:123594058T>C uc003vld.2 + 4 836 c.434T>C c.(433-435)ATT>ACT p.I145T SPAM1_uc003vle.2_Missense_Mutation_p.I145T|SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vlf.3_Missense_Mutation_p.I145T|SPAM1_uc010lku.2_Missense_Mutation_p.I145T NM_153189 NP_694859 P38567 HYALP_HUMAN sperm adhesion molecule 1 isoform 2 145 binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane anchored to membrane|plasma membrane hyalurononglucosaminidase activity ovary(3)|kidney(1) 4 Hyaluronidase(DB00070) ATGGCTGTTATTGACTGGGAA 0.393 NA 14 35 0 0 0.00245 0 0 PAX4 5078 broad.mit.edu 37 7 127251136 127251136 + Silent SNP T T A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr7:127251136T>A uc010lld.1 - 9 1220 c.1014A>T c.(1012-1014)CTA>CTT p.L338L PAX4_uc003vmf.2_Silent_p.L336L|PAX4_uc003vmg.1_Intron NM_006193 NP_006184 O43316 PAX4_HUMAN paired box 4 Error:Variant_position_missing_in_O43316_after_alignment cell differentiation|endocrine pancreas development|organ morphogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 AGCCATACAGTAGTGGGCAGC 0.567 Ovarian(113;737 1605 7858 27720 34092) NA 3 14 0 0 0.004672 0 0 CCDC136 64753 broad.mit.edu 37 7 128454800 128454800 + Missense_Mutation SNP C C G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr7:128454800C>G uc003vnv.1 + 15 3239 c.2872C>G c.(2872-2874)CAG>GAG p.Q958E CCDC136_uc003vnu.1_Intron|CCDC136_uc003vnw.1_Intron|CCDC136_uc003vnx.1_Missense_Mutation_p.Q774E|CCDC136_uc010llq.1_Missense_Mutation_p.Q327E|CCDC136_uc003vny.1_Intron NM_022742 NP_073579 Q96JN2 CC136_HUMAN coiled-coil domain containing 136 958 Potential. integral to membrane protein binding ovary(2) 2 GGGGCAGCTGCAGTGCTGCCA 0.582 NA 3 24 0 0 0.004672 0 0 CPA2 1358 broad.mit.edu 37 7 129909638 129909638 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr7:129909638G>T uc003vpq.2 + 3 302 c.283G>T c.(283-285)GTG>TTG p.V95L CPA2_uc011kpc.1_Missense_Mutation_p.V95L NM_001869 NP_001860 P48052 CBPA2_HUMAN carboxypeptidase A2 (pancreatic) precursor 95 proteolysis|vacuolar protein catabolic process extracellular region|vacuole metallocarboxypeptidase activity|zinc ion binding ovary(1) 1 Melanoma(18;0.0435) GATTGAAGACGTGCAGGTAAT 0.517 NA 11 21 3.86212e-05 5.01347e-05 0.008291 1 0 WDR91 29062 broad.mit.edu 37 7 134881057 134881057 + Silent SNP T T A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr7:134881057T>A uc003vsp.2 - 8 1145 c.1083A>T c.(1081-1083)CCA>CCT p.P361P WDR91_uc010lmq.2_5'UTR|WDR91_uc010lmr.2_RNA NM_014149 NP_054868 A4D1P6 WDR91_HUMAN WD repeat domain 91 361 breast(2)|ovary(1)|skin(1) 4 GCTCAGCCTCTGGGCCACTGG 0.657 NA 16 36 0 0 0.007413 0 0 WEE2 494551 broad.mit.edu 37 7 141418964 141418964 + Silent SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr7:141418964C>A uc003vwn.2 + 4 1084 c.678C>A c.(676-678)GTC>GTA p.V226V FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron NM_001105558 NP_001099028 P0C1S8 WEE2_HUMAN WEE1 homolog 2 226 ATP (By similarity).|Protein kinase. egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I centrosome|nucleus ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity ovary(1)|stomach(1) 2 Melanoma(164;0.0171) TTGGTACAGTCTACAAGTGCA 0.373 NA 16 50 2.31682e-05 3.07124e-05 0.003163 1 0 OR2A2 442361 broad.mit.edu 37 7 143806830 143806830 + Missense_Mutation SNP C C G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr7:143806830C>G uc011ktz.1 + 1 155 c.155C>G c.(154-156)TCT>TGT p.S52C NM_001005480 NP_001005480 Q6IF42 OR2A2_HUMAN olfactory receptor, family 2, subfamily A, 52 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Melanoma(164;0.0783) TGCCTGGACTCTAAGCTTCAC 0.493 NA 47 123 0 0 0.01441 0 0 OR2A14 135941 broad.mit.edu 37 7 143826637 143826637 + Silent SNP T T A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr7:143826637T>A uc011kua.1 + 1 432 c.432T>A c.(430-432)GCT>GCA p.A144A NM_001001659 NP_001001659 Q96R47 O2A14_HUMAN olfactory receptor, family 2, subfamily A, 144 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Melanoma(164;0.0783) CTGTCCTGGCTGTGGCTTCCT 0.532 NA 63 155 0 0 0.01441 0 0 ABP1 26 broad.mit.edu 37 7 150553579 150553579 + Silent SNP C C G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr7:150553579C>G uc003why.1 + 3 4239 c.21C>G c.(19-21)GCC>GCG p.A7A ABP1_uc003whz.1_Silent_p.A7A|ABP1_uc003wia.1_Silent_p.A7A NM_001091 NP_001082 P19801 ABP1_HUMAN amiloride binding protein 1 precursor 7 amine metabolic process extracellular space|peroxisome copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding ovary(2)|breast(2)|skin(2) 6 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiloride(DB00594)|Spermine(DB00127) TGGGCTGGGCCGTGGCTGCCA 0.607 Pancreas(195;1227 3054 24912 28503) NA 4 28 0 0 0.009096 0 0 MLL3 58508 broad.mit.edu 37 7 151962193 151962193 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr7:151962193C>A uc003wla.2 - 8 1333 c.1114G>T c.(1114-1116)GAT>TAT p.D372Y NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 372 PHD-type 1.|RING-type. intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) ACCGCTATATCCAGGCACATT 0.453 Colon(68;14 1149 1884 27689 34759) NA N medulloblastoma 7 203 0.000673444 0.000786638 0.008291 1 0 PTPRN2 5799 broad.mit.edu 37 7 157926730 157926730 + Missense_Mutation SNP G G C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr7:157926730G>C uc003wno.2 - 9 1316 c.1195C>G c.(1195-1197)CTC>GTC p.L399V PTPRN2_uc003wnp.2_Missense_Mutation_p.L382V|PTPRN2_uc003wnq.2_Missense_Mutation_p.L399V|PTPRN2_uc003wnr.2_Missense_Mutation_p.L361V|PTPRN2_uc011kwa.1_Missense_Mutation_p.L422V NM_002847 NP_002838 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N 399 Extracellular (Potential). integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity ovary(4)|large_intestine(1)|pleura(1)|skin(1) 7 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) AGGCCCCCGAGTGTGGCACTC 0.602 NA 7 35 0 0 0.001984 0 0 MYOM2 9172 broad.mit.edu 37 8 2056576 2056576 + Splice_Site SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr8:2056576G>T uc003wpx.3 + 24 3137 c.2999_splice c.e24-1 p.E1000_splice MYOM2_uc011kwi.1_Splice_Site_p.E425_splice NM_003970 NP_003961 P54296 MYOM2_HUMAN myomesin 2 muscle contraction myosin filament structural constituent of muscle ovary(4)|central_nervous_system(1)|skin(1) 6 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) CTTCGTTTTAGAGCTCGAGCG 0.498 NA 7 58 0.00198382 0.00225226 0.001984 1 0 CSMD1 64478 broad.mit.edu 37 8 2807764 2807764 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr8:2807764G>T uc011kwk.1 - 67 10696 c.10306C>A c.(10306-10308)CTA>ATA p.L3436I CSMD1_uc011kwj.1_Missense_Mutation_p.L2750I|CSMD1_uc010lrg.2_Missense_Mutation_p.L1327I NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 3436 Extracellular (Potential). integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TAACCATCTAGTCCCCAGTTG 0.433 NA 10 78 0.000978159 0.00113486 0.010729 1 0 CSMD1 64478 broad.mit.edu 37 8 2857539 2857539 + Missense_Mutation SNP G G C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr8:2857539G>C uc011kwk.1 - 53 8537 c.8147C>G c.(8146-8148)ACT>AGT p.T2716S CSMD1_uc011kwj.1_Missense_Mutation_p.T2045S|CSMD1_uc010lrg.2_Missense_Mutation_p.T726S NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 2716 Extracellular (Potential).|Sushi 18. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CCTCACGGAAGTTCCCACAAG 0.512 NA 12 76 0 0 0.00245 0 0 XKR6 286046 broad.mit.edu 37 8 10756321 10756321 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr8:10756321C>A uc003wtk.1 - 3 1094 c.1067G>T c.(1066-1068)GGG>GTG p.G356V NM_173683 NP_775954 Q5GH73 XKR6_HUMAN XK, Kell blood group complex subunit-related 356 integral to membrane ovary(1)|skin(1) 2 Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555) GATGATGGCCCCTCTGTAGCT 0.542 NA 11 76 5.16669e-11 8.86454e-11 0.010729 1 0 ADAM28 10863 broad.mit.edu 37 8 24201028 24201028 + Missense_Mutation SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr8:24201028C>T uc003xdy.2 + 18 2004 c.1921C>T c.(1921-1923)CAT>TAT p.H641Y ADAM28_uc011laa.1_RNA|ADAM28_uc010lua.2_Missense_Mutation_p.H328Y NM_014265 NP_055080 Q9UKQ2 ADA28_HUMAN ADAM metallopeptidase domain 28 isoform 1 641 EGF-like.|Extracellular (Potential). proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding skin(3)|lung(1)|central_nervous_system(1) 5 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) GGTGTGTGACCATGAGCTCCA 0.488 NSCLC(193;488 2149 22258 34798 40734) NA 5 11 0 0 0.000602 0 0 CHRNA6 8973 broad.mit.edu 37 8 42612118 42612118 + Silent SNP G G A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr8:42612118G>A uc003xpj.2 - 4 373 c.327C>T c.(325-327)CGC>CGT p.R109R CHRNA6_uc011lcw.1_Silent_p.R94R NM_004198 NP_004189 Q15825 ACHA6_HUMAN cholinergic receptor, nicotinic, alpha 6 109 Extracellular. cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity 0 all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151) Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869) CTGCAGGAACGCGAAGAGTCT 0.388 NA 13 45 0 0 0.003163 0 0 SNTG1 54212 broad.mit.edu 37 8 51449274 51449274 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr8:51449274G>T uc010lxy.1 + 12 957 c.586G>T c.(586-588)GGC>TGC p.G196C SNTG1_uc003xqs.1_Missense_Mutation_p.G196C|SNTG1_uc010lxz.1_Missense_Mutation_p.G196C|SNTG1_uc011ldl.1_RNA NM_018967 NP_061840 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 196 cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding ovary(5) 5 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) GACGTCTCCAGGCTTGAGGTG 0.473 NA 12 112 3.07112e-06 4.26854e-06 0.010729 1 0 PXDNL 137902 broad.mit.edu 37 8 52320835 52320835 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr8:52320835G>T uc003xqu.3 - 17 3450 c.3349C>A c.(3349-3351)CTT>ATT p.L1117I PXDNL_uc003xqt.3_RNA NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 1117 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|pancreas(1) 2 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) GGACTGAGAAGGTAGGAGGGT 0.582 NA 9 73 2.17888e-05 2.89955e-05 0.006214 1 0 PXDNL 137902 broad.mit.edu 37 8 52370149 52370149 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr8:52370149C>A uc003xqu.3 - 9 992 c.891G>T c.(889-891)GAG>GAT p.E297D NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 297 Ig-like C2-type 1. hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|pancreas(1) 2 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) CTTGGTCTGACTCTCTGGTGT 0.453 NA 6 80 8.12818e-05 0.000102047 0.001984 1 0 SOX17 64321 broad.mit.edu 37 8 55372454 55372454 + Missense_Mutation SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr8:55372454C>T uc003xsb.3 + 2 1348 c.1144C>T c.(1144-1146)CAT>TAT p.H382Y NM_022454 NP_071899 Q9H6I2 SOX17_HUMAN SRY-box 17 382 Sox C-terminal. angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway transcription factor complex beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding lung(1) 1 Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181) OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159) CTACCAGGGGCATGACTCCGG 0.612 NA 6 13 0 0 0.001168 0 0 RP1 6101 broad.mit.edu 37 8 55540348 55540348 + Silent SNP C C G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr8:55540348C>G uc003xsd.1 + 4 4054 c.3906C>G c.(3904-3906)GTC>GTG p.V1302V RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 1302 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TAGGAGAGGTCTGTTCACTTA 0.433 Colon(91;1014 1389 7634 14542 40420) NA 13 83 0 0 0.013537 0 0 JPH1 56704 broad.mit.edu 37 8 75227380 75227380 + Nonsense_Mutation SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr8:75227380C>T uc003yae.2 - 2 895 c.855G>A c.(853-855)TGG>TGA p.W285* JPH1_uc003yaf.2_Nonsense_Mutation_p.W285*|JPH1_uc003yag.1_Nonsense_Mutation_p.W149* NM_020647 NP_065698 Q9HDC5 JPH1_HUMAN junctophilin 1 285 Cytoplasmic (Potential).|MORN 6. calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane ovary(1) 1 Breast(64;0.00576) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176) TGTCGTTCTTCCACTCGCCCA 0.537 NA 4 94 0 0 0.009096 0 0 RUNX1T1 862 broad.mit.edu 37 8 92999186 92999186 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr8:92999186G>T uc003yfd.2 - 7 1090 c.1006C>A c.(1006-1008)CGT>AGT p.R336S RUNX1T1_uc003yfc.1_Missense_Mutation_p.R309S|RUNX1T1_uc003yfe.1_Missense_Mutation_p.R299S|RUNX1T1_uc010mao.2_Missense_Mutation_p.R309S|RUNX1T1_uc011lgi.1_Missense_Mutation_p.R347S|RUNX1T1_uc010man.1_5'UTR|RUNX1T1_uc003yfb.1_Missense_Mutation_p.R299S NM_175634 NP_783552 Q06455 MTG8_HUMAN acute myelogenous leukemia 1 translocation 1 336 generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1) 16 BRCA - Breast invasive adenocarcinoma(11;0.0141) TCTTCTTGACGTGTGCCATGC 0.408 NA 22 46 1.36565e-18 2.62448e-18 0.00278 1 0 RUNX1T1 862 broad.mit.edu 37 8 93026891 93026891 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr8:93026891C>A uc003yfd.2 - 3 468 c.384G>T c.(382-384)AGG>AGT p.R128S RUNX1T1_uc003yfc.1_Missense_Mutation_p.R101S|RUNX1T1_uc003yfe.1_Missense_Mutation_p.R91S|RUNX1T1_uc010mao.2_Missense_Mutation_p.R101S|RUNX1T1_uc011lgi.1_Missense_Mutation_p.R139S|RUNX1T1_uc003yfh.1_Missense_Mutation_p.R91S|RUNX1T1_uc003yfb.1_Missense_Mutation_p.R91S|RUNX1T1_uc003yff.1_Missense_Mutation_p.R91S|RUNX1T1_uc003yfg.1_Missense_Mutation_p.R91S NM_175634 NP_783552 Q06455 MTG8_HUMAN acute myelogenous leukemia 1 translocation 1 128 TAFH. R->D: Loss of interaction with TCF12. generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1) 16 BRCA - Breast invasive adenocarcinoma(11;0.0141) TAGTAAGGAACCTTTTCAGCT 0.522 NA 16 49 3.45872e-05 4.55862e-05 0.004007 1 0 PKHD1L1 93035 broad.mit.edu 37 8 110447520 110447520 + Nonsense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr8:110447520G>T uc003yne.2 + 29 3546 c.3442G>T c.(3442-3444)GAG>TAG p.E1148* NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 1148 Extracellular (Potential).|IPT/TIG 4. immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) AGGGGGTGAAGAGTTCTACTT 0.438 NA HNSCC(38;0.096) 44 102 1.06522e-23 2.09992e-23 0.013114 1 0 CSMD3 114788 broad.mit.edu 37 8 113243813 113243813 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr8:113243813G>T uc003ynu.2 - 69 10948 c.10789C>A c.(10789-10791)CAA>AAA p.Q3597K CSMD3_uc003yns.2_Missense_Mutation_p.Q2799K|CSMD3_uc003ynt.2_Missense_Mutation_p.Q3557K|CSMD3_uc011lhx.1_Missense_Mutation_p.Q3428K NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3597 Extracellular (Potential). integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 TCTTTGCCTTGAATAAATCCT 0.323 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 28 94 3.03874e-20 5.92253e-20 0.003271 1 0 FLJ43860 389690 broad.mit.edu 37 8 142476535 142476535 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr8:142476535G>T uc003ywi.2 - 19 2532 c.2451C>A c.(2449-2451)TTC>TTA p.F817L FLJ43860_uc011ljs.1_RNA|FLJ43860_uc010meu.1_RNA NM_207414 NP_997297 Q6ZUA9 Q6ZUA9_HUMAN hypothetical protein LOC389690 817 binding 0 all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) AGATGTTCAGGAAGGTGGCCA 0.647 NA 7 12 8.12818e-05 0.000102047 0.001984 1 0 CYP11B2 1585 broad.mit.edu 37 8 143993975 143993975 + Nonsense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr8:143993975C>A uc003yxk.1 - 8 1372 c.1369G>T c.(1369-1371)GAG>TAG p.E457* NM_000498 NP_000489 P19099 C11B2_HUMAN cytochrome P450, family 11, subfamily B, 457 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity 0 all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Candesartan(DB00796)|Metyrapone(DB01011) ATCTCTGCCTCTGCCAGGCGC 0.692 NA Familial_Hyperaldosteronism_type_I 6 38 0.000442599 0.000527744 0.006214 1 0 PLEC 5339 broad.mit.edu 37 8 144993686 144993686 + Missense_Mutation SNP C C G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr8:144993686C>G uc003zaf.1 - 32 10884 c.10714G>C c.(10714-10716)GGC>CGC p.G3572R PLEC_uc003zab.1_Missense_Mutation_p.G3435R|PLEC_uc003zac.1_Missense_Mutation_p.G3439R|PLEC_uc003zad.2_Missense_Mutation_p.G3435R|PLEC_uc003zae.1_Missense_Mutation_p.G3403R|PLEC_uc003zag.1_Missense_Mutation_p.G3413R|PLEC_uc003zah.2_Missense_Mutation_p.G3421R|PLEC_uc003zaj.2_Missense_Mutation_p.G3462R NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 3572 Plectin 14.|Globular 2. 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 TCTCTGTAGCCGGTGACGGCC 0.677 NA 7 38 0 0 0.006214 0 0 DMRT3 58524 broad.mit.edu 37 9 990229 990229 + Missense_Mutation SNP G G C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr9:990229G>C uc003zgw.1 + 2 681 c.643G>C c.(643-645)GAG>CAG p.E215Q NM_021240 NP_067063 Q9NQL9 DMRT3_HUMAN doublesex and mab-3 related transcription factor 215 cell differentiation|multicellular organismal development|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity ovary(2)|central_nervous_system(1) 3 all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08) Lung(218;0.0196) AGGCAACCCCGAGAGCCGCCC 0.587 NA 10 32 0 0 0.006214 0 0 PTPRD 5789 broad.mit.edu 37 9 8517929 8517929 + Missense_Mutation SNP A A C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr9:8517929A>C uc003zkk.2 - 20 2173 c.1462T>G c.(1462-1464)TAT>GAT p.Y488D PTPRD_uc003zkp.2_Missense_Mutation_p.Y488D|PTPRD_uc003zkq.2_Missense_Mutation_p.Y488D|PTPRD_uc003zkr.2_Missense_Mutation_p.Y482D|PTPRD_uc003zks.2_Missense_Mutation_p.Y478D|PTPRD_uc003zkl.2_Missense_Mutation_p.Y488D|PTPRD_uc003zkm.2_Missense_Mutation_p.Y475D|PTPRD_uc003zkn.2_Missense_Mutation_p.Y488D|PTPRD_uc003zko.2_Missense_Mutation_p.Y485D NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 488 Fibronectin type-III 2.|Extracellular (Potential). transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1) 22 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) TTGACAGAATATGTTTTCTGG 0.428 NA TSP Lung(15;0.13) 9 46 0 0 0.006214 0 0 MPDZ 8777 broad.mit.edu 37 9 13183472 13183472 + Missense_Mutation SNP C C G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr9:13183472C>G uc010mia.1 - 18 2651 c.2594G>C c.(2593-2595)AGT>ACT p.S865T MPDZ_uc010mhy.2_Missense_Mutation_p.S865T|MPDZ_uc010mhz.2_Missense_Mutation_p.S865T|MPDZ_uc011lmn.1_Missense_Mutation_p.S865T|MPDZ_uc003zlb.3_Missense_Mutation_p.S865T NM_003829 NP_003820 O75970 MPDZ_HUMAN multiple PDZ domain protein 865 interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding ovary(5)|central_nervous_system(1) 6 GBM - Glioblastoma multiforme(50;2.03e-06) ACCACAAGAACTGCCATGAAG 0.403 NA 5 15 0 0 0.001168 0 0 TAF1L 138474 broad.mit.edu 37 9 32634807 32634807 + Silent SNP T T C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr9:32634807T>C uc003zrg.1 - 1 861 c.771A>G c.(769-771)AAA>AAG p.K257K uc003zrh.1_RNA NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN TBP-associated factor RNA polymerase 1-like 257 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1) 26 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) AGCGTAACACTTTTCCAGGTC 0.488 NA 23 69 0 0 0.00278 0 0 MCART1 92014 broad.mit.edu 37 9 37888039 37888039 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr9:37888039C>A uc004aau.2 - 3 1253 c.509G>T c.(508-510)GGA>GTA p.G170V MCART1_uc004aar.1_Intron|MCART1_uc004aaq.1_Intron|uc004aat.1_5'Flank|MCART1_uc004aav.2_Missense_Mutation_p.G170V NM_033412 NP_219480 Q9H1U9 MCAR1_HUMAN mitochondrial carrier triple repeat 1 170 Solcar 2. transport integral to membrane|mitochondrial inner membrane ovary(2)|breast(1) 3 GBM - Glioblastoma multiforme(29;0.00559)|Lung(182;0.0422) ATAATACTCTCCAATTCCATG 0.458 NA 8 77 0.00307968 0.00347347 0.00308 1 0 LOC442421 442421 broad.mit.edu 37 9 66499716 66499716 + Missense_Mutation SNP A A G rs141617852 by1000genomes TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr9:66499716A>G uc004aee.1 + 1 526 c.526A>G c.(526-528)AAT>GAT p.N176D LOC442421_uc004aed.1_RNA Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134). 0 CCTGGAGCCCAATCTGCTGGA 0.607 NA 5 64 0 0 0.00308 0 0 TRPM3 80036 broad.mit.edu 37 9 73225584 73225584 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr9:73225584G>T uc004aid.2 - 18 2816 c.2572C>A c.(2572-2574)CTC>ATC p.L858I TRPM3_uc004ahu.2_Missense_Mutation_p.L688I|TRPM3_uc004ahv.2_Missense_Mutation_p.L660I|TRPM3_uc004ahw.2_Missense_Mutation_p.L730I|TRPM3_uc004ahx.2_Missense_Mutation_p.L717I|TRPM3_uc004ahy.2_Missense_Mutation_p.L720I|TRPM3_uc004ahz.2_Missense_Mutation_p.L707I|TRPM3_uc004aia.2_Missense_Mutation_p.L705I|TRPM3_uc004aib.2_Missense_Mutation_p.L695I|TRPM3_uc004aic.2_Missense_Mutation_p.L858I NM_001007471 NP_001007472 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, 883 Extracellular (Potential). integral to membrane calcium channel activity ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2) 9 TTTCTGCCGAGGGGGATTAAC 0.473 NA 14 60 1.5842e-08 2.48276e-08 0.001855 1 0 PRUNE2 158471 broad.mit.edu 37 9 79321360 79321360 + Missense_Mutation SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr9:79321360C>T uc010mpk.2 - 8 5954 c.5830G>A c.(5830-5832)GCT>ACT p.A1944T PRUNE2_uc004akj.3_5'Flank|PRUNE2_uc010mpl.1_5'Flank NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN prune homolog 2 1944 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity 0 TCACCAGCAGCAGACACAAAG 0.493 NA 5 44 0 0 0.000602 0 0 KIF27 55582 broad.mit.edu 37 9 86530457 86530457 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr9:86530457C>A uc004ana.2 - 2 194 c.50G>T c.(49-51)TGC>TTC p.C17F KIF27_uc010mpw.2_Missense_Mutation_p.C17F|KIF27_uc010mpx.2_Missense_Mutation_p.C17F NM_017576 NP_060046 Q86VH2 KIF27_HUMAN kinesin family member 27 17 Kinesin-motor. cilium assembly|microtubule-based movement cilium|cytoplasm|microtubule ATP binding|microtubule motor activity lung(4)|skin(1) 5 AGCTTCTTTGCAAAGCAGAGG 0.333 NA 10 25 0.000442599 0.000527744 0.006214 1 0 NTRK2 4915 broad.mit.edu 37 9 87285783 87285783 + Silent SNP C C A rs68100822 TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr9:87285783C>A uc004aoa.1 + 4 1058 c.120C>A c.(118-120)GCC>GCA p.A40A NTRK2_uc004anv.1_Silent_p.A40A|NTRK2_uc004any.1_Silent_p.A40A|NTRK2_uc004anz.1_Silent_p.A40A|NTRK2_uc011lsz.1_Silent_p.A40A|NTRK2_uc011lta.1_Silent_p.A40A|NTRK2_uc004aob.1_Silent_p.A40A|NTRK2_uc011ltb.1_5'Flank NM_001018064 NP_001018074 Q16620 NTRK2_HUMAN neurotrophic tyrosine kinase, receptor, type 2 40 Extracellular (Potential).|LRRNT. activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity lung(11)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|liver(1) 16 AATGCAGTGCCTCTCGGATCT 0.597 NA TSP Lung(25;0.17) 18 38 6.94344e-10 1.14012e-09 0.006122 1 0 AGTPBP1 23287 broad.mit.edu 37 9 88236124 88236124 + Missense_Mutation SNP T T C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr9:88236124T>C uc011ltd.1 - 14 2125 c.2092A>G c.(2092-2094)AAC>GAC p.N698D AGTPBP1_uc004aod.3_Missense_Mutation_p.N324D|AGTPBP1_uc011ltc.1_Missense_Mutation_p.N596D|AGTPBP1_uc010mqc.2_Missense_Mutation_p.N658D|AGTPBP1_uc011lte.1_Missense_Mutation_p.N710D NM_015239 NP_056054 Q9UPW5 CBPC1_HUMAN ATP/GTP binding protein 1 698 C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis cytosol|mitochondrion|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding ovary(4)|large_intestine(2)|skin(1) 7 TACTTTGGGTTATCCAAGTCA 0.259 NA 14 26 0 0 0.00245 0 0 OMD 4958 broad.mit.edu 37 9 95178974 95178974 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr9:95178974G>T uc004asd.3 - 2 1236 c.867C>A c.(865-867)CAC>CAA p.H289Q CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron NM_005014 NP_005005 Q99983 OMD_HUMAN osteomodulin precursor 289 LRR 9. cell adhesion proteinaceous extracellular matrix ovary(2) 2 TCAATTTGTTGTGTCCAACAC 0.303 NA T USP6 aneurysmal bone cysts 10 35 7.48243e-07 1.07248e-06 0.006214 1 0 C9orf3 84909 broad.mit.edu 37 9 97522328 97522328 + Missense_Mutation SNP G G A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr9:97522328G>A uc004ava.2 + 1 398 c.263G>A c.(262-264)AGG>AAG p.R88K C9orf3_uc011lui.1_RNA|C9orf3_uc004aux.1_Missense_Mutation_p.R88K|C9orf3_uc004auy.2_Missense_Mutation_p.R88K|C9orf3_uc004auz.1_Missense_Mutation_p.R88K NM_032823 NP_116212 Q8N6M6 AMPO_HUMAN aminopeptidase O 88 leukotriene biosynthetic process|proteolysis cytoplasm aminopeptidase activity|metallopeptidase activity|zinc ion binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(323;0.000275) ACAAATGCAAGGACCTTCTCA 0.393 NA 21 47 0 0 0.012319 0 0 GRIN3A 116443 broad.mit.edu 37 9 104433161 104433161 + Silent SNP A A G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr9:104433161A>G uc004bbp.1 - 3 2134 c.1533T>C c.(1531-1533)AGT>AGC p.S511S GRIN3A_uc004bbq.1_Silent_p.S511S NM_133445 NP_597702 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, 511 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1) 7 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) AGTGTAGCTTACTTGGATGTT 0.522 NA 25 50 0 0 0.003954 0 0 SVEP1 79987 broad.mit.edu 37 9 113169798 113169798 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr9:113169798G>T uc010mtz.2 - 38 8419 c.8082C>A c.(8080-8082)AAC>AAA p.N2694K SVEP1_uc010mty.2_Missense_Mutation_p.N620K NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN polydom 2694 Sushi 21. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding ovary(7) 7 TCAGCACAGGGTTCCCCAGAA 0.443 NA 7 114 0.00198382 0.00225226 0.001984 1 0 PHF19 26147 broad.mit.edu 37 9 123628067 123628067 + Missense_Mutation SNP T T A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr9:123628067T>A uc004bks.1 - 9 1074 c.821A>T c.(820-822)CAG>CTG p.Q274L PHF19_uc011lyf.1_Missense_Mutation_p.Q65L|PHF19_uc004bkr.2_RNA NM_015651 NP_056466 Q5T6S3 PHF19_HUMAN PHD finger protein 19 isoform a 274 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding ovary(1)|breast(1) 2 CTTCTTGCTCTGTACCCCCAG 0.572 NA 27 54 0 0 0.007291 0 0 LMX1B 4010 broad.mit.edu 37 9 129453247 129453247 + Silent SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr9:129453247C>T uc004bqj.2 + 3 440 c.390C>T c.(388-390)GGC>GGT p.G130G LMX1B_uc004bqi.2_Silent_p.G130G|LMX1B_uc011maa.1_Silent_p.G130G NM_002316 NP_002307 O60663 LMX1B_HUMAN LIM homeobox transcription factor 1, beta 130 LIM zinc-binding 2. dorsal/ventral pattern formation|in utero embryonic development nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 TACGCAAGGGCGACGAATTCG 0.632 Pancreas(110;1796 2278 18357 20466) NA Nail-Patella_Syndrome 5 16 0 0 0.000602 0 0 RAPGEF1 2889 broad.mit.edu 37 9 134526329 134526329 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr9:134526329C>A uc004cbc.2 - 2 148 c.18G>T c.(16-18)CAG>CAT p.Q6H RAPGEF1_uc004cbb.2_Missense_Mutation_p.Q24H|RAPGEF1_uc010mzn.2_Missense_Mutation_p.Q11H|RAPGEF1_uc004cbd.2_Missense_Mutation_p.Q11H NM_005312 NP_005303 Q13905 RPGF1_HUMAN guanine nucleotide-releasing factor 2 isoform a 6 activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|endosome guanyl-nucleotide exchange factor activity|SH3 domain binding lung(3)|ovary(2)|breast(1)|skin(1) 7 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364) GATGAGAACGCTGAGAGTCTG 0.463 NA 15 34 0.000219431 0.000269587 0.00245 1 0 DBH 1621 broad.mit.edu 37 9 136501746 136501746 + Missense_Mutation SNP G G T rs78445536 byFrequency TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr9:136501746G>T uc004cel.2 + 1 262 c.253G>T c.(253-255)GTC>TTC p.V85F NM_000787 NP_000778 P09172 DOPO_HUMAN dopamine beta hydroxylase precursor 85 DOMON.|Intragranular (Potential). hormone biosynthetic process chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane dopamine beta-monooxygenase activity|L-ascorbic acid binding ovary(2)|central_nervous_system(2) 4 OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05) Dopamine(DB00988)|Vitamin C(DB00126) CAAGGCTGGCGTCCTGTTTGG 0.617 NA 3 10 0.004672 0.00515945 0.004672 1 0 PPP2R3B 28227 broad.mit.edu 37 X 299548 299548 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chrX:299548C>A uc004cpg.2 - 11 1636 c.1435G>T c.(1435-1437)GAC>TAC p.D479Y PPP2R3B_uc004cpf.2_Missense_Mutation_p.D80Y NM_013239 NP_037371 Q9Y5P8 P2R3B_HUMAN protein phosphatase 2, regulatory subunit B'', 479 cell cycle arrest|protein dephosphorylation nucleus|protein phosphatase type 2A complex calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity 0 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) TGCTCGTGGTCGAGGTACTTC 0.498 NA 16 42 2.32078e-09 3.69606e-09 0.003163 1 0 MXRA5 25878 broad.mit.edu 37 X 3228008 3228008 + Missense_Mutation SNP G G C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chrX:3228008G>C uc004crg.3 - 7 8393 c.8236C>G c.(8236-8238)CGG>GGG p.R2746G NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN adlican precursor 2746 Ig-like C2-type 12. extracellular region ovary(5)|lung(1)|central_nervous_system(1)|skin(1) 8 all_lung(23;0.00031)|Lung NSC(23;0.000946) TTCCCGGGCCGGGTGTAGATG 0.597 NA 23 47 0 0 0.014323 0 0 GLRA2 2742 broad.mit.edu 37 X 14548215 14548215 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chrX:14548215G>T uc010nep.2 + 2 368 c.36G>T c.(34-36)TTG>TTT p.L12F GLRA2_uc010neq.2_Missense_Mutation_p.L12F|GLRA2_uc004cwe.3_Missense_Mutation_p.L12F|GLRA2_uc011mio.1_5'UTR|GLRA2_uc011mip.1_5'Flank NM_001118885 NP_001112357 P23416 GLRA2_HUMAN glycine receptor, alpha 2 isoform A 12 neuropeptide signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity ovary(1)|lung(1) 2 Hepatocellular(33;0.128) Ethanol(DB00898)|Glycine(DB00145) TGACAGCCTTGTTTGCATTTT 0.368 NA 11 51 4.36969e-10 7.20947e-10 0.001855 1 0 ASB11 140456 broad.mit.edu 37 X 15320871 15320871 + Silent SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chrX:15320871G>T uc004cwp.1 - 2 240 c.240C>A c.(238-240)GCC>GCA p.A80A ASB11_uc004cwo.1_Silent_p.A59A|ASB11_uc010nes.1_RNA|ASB11_uc010net.1_Silent_p.A80A NM_080873 NP_543149 Q8WXH4 ASB11_HUMAN ankyrin repeat and SOCS box-containing protein 80 ANK 1. intracellular signal transduction breast(2)|skin(1) 3 Hepatocellular(33;0.183) AAGTTTTAAGGGCCAGTAAGC 0.433 NA 7 37 8.12818e-05 0.000102047 0.001984 1 0 RBBP7 5931 broad.mit.edu 37 X 16870189 16870189 + Silent SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chrX:16870189G>T uc004cxt.2 - 9 1378 c.1020C>A c.(1018-1020)CGC>CGA p.R340R RBBP7_uc004cxs.1_Silent_p.R384R|RBBP7_uc004cxu.2_Silent_p.R331R NM_002893 NP_002884 Q16576 RBBP7_HUMAN retinoblastoma binding protein 7 340 WD 6. cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex|NuRD complex protein binding upper_aerodigestive_tract(1)|ovary(1) 2 Hepatocellular(33;0.0997) ACACATTCAGGCGGCGGTCAG 0.383 NA 46 120 1.46357e-32 2.93568e-32 0.01441 1 0 BEND2 139105 broad.mit.edu 37 X 18194204 18194204 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chrX:18194204G>T uc004cyj.3 - 11 1794 c.1640C>A c.(1639-1641)GCA>GAA p.A547E BEND2_uc010nfb.2_Missense_Mutation_p.A456E NM_153346 NP_699177 Q8NDZ0 BEND2_HUMAN BEN domain containing 2 547 BEN 1. ovary(3)|kidney(1)|central_nervous_system(1) 5 AAAAGTTGTTGCCAGATATTC 0.323 NA 10 32 3.07112e-06 4.26854e-06 0.010729 1 0 PPEF1 5475 broad.mit.edu 37 X 18822024 18822024 + Silent SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chrX:18822024G>T uc004cyq.2 + 14 1561 c.1080G>T c.(1078-1080)CTG>CTT p.L360L PPEF1_uc004cyp.2_Silent_p.L332L|PPEF1_uc004cyr.2_Intron|PPEF1_uc004cys.2_Silent_p.L360L|PPEF1_uc011mja.1_Silent_p.L295L|PPEF1_uc011mjb.1_Silent_p.L304L NM_006240 NP_006231 O14829 PPE1_HUMAN protein phosphatase with EF hand calcium-binding 360 Catalytic. detection of stimulus involved in sensory perception|protein dephosphorylation calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity 0 Hepatocellular(33;0.183) TTGATATTCTGTGGAGTGATC 0.373 NA 29 57 3.90053e-15 7.29229e-15 0.012213 1 0 MAP3K15 389840 broad.mit.edu 37 X 19387328 19387328 + Missense_Mutation SNP G G C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chrX:19387328G>C uc004czk.1 - 26 3472 c.1835C>G c.(1834-1836)GCC>GGC p.A612G MAP3K15_uc004czj.1_Missense_Mutation_p.A572G|MAP3K15_uc004czi.1_Missense_Mutation_p.A71G NM_001001671 NP_001001671 Q6ZN16 M3K15_HUMAN mitogen-activated protein kinase kinase kinase 1137 ATP binding|MAP kinase kinase kinase activity|metal ion binding ovary(3)|lung(2)|stomach(1)|skin(1) 7 Hepatocellular(33;0.183) CTCAAAGTGGGCTCGGAGCTC 0.597 NA 11 43 0 0 0.001855 0 0 FAM47A 158724 broad.mit.edu 37 X 34149660 34149660 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chrX:34149660G>T uc004ddg.2 - 1 769 c.736C>A c.(736-738)CAT>AAT p.H246N NM_203408 NP_981953 Q5JRC9 FA47A_HUMAN hypothetical protein LOC158724 246 Pro-rich. ovary(4)|central_nervous_system(1) 5 GGGCGGATATGGGACACTCCA 0.642 NA 6 39 8.12818e-05 0.000102047 0.001984 1 0 BCOR 54880 broad.mit.edu 37 X 39934249 39934249 + Missense_Mutation SNP T T A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chrX:39934249T>A uc004den.3 - 4 642 c.350A>T c.(349-351)GAA>GTA p.E117V BCOR_uc004dep.3_Missense_Mutation_p.E117V|BCOR_uc004deo.3_Missense_Mutation_p.E117V|BCOR_uc004dem.3_Missense_Mutation_p.E117V|BCOR_uc004deq.3_Missense_Mutation_p.E117V NM_001123385 NP_001116857 Q6W2J9 BCOR_HUMAN BCL-6 interacting corepressor isoform c 117 heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding ovary(2)|kidney(1)|central_nervous_system(1) 4 TGGATTTCTTTCCGAAGAAAA 0.512 NA 8 49 0 0 0.004482 0 0 GDPD2 54857 broad.mit.edu 37 X 69647065 69647065 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chrX:69647065G>T uc004dyh.2 + 9 1032 c.781G>T c.(781-783)GTC>TTC p.V261F GDPD2_uc010nkx.1_Missense_Mutation_p.V261F|GDPD2_uc010nky.1_Missense_Mutation_p.V47F|GDPD2_uc011mpk.1_Missense_Mutation_p.V261F|GDPD2_uc011mpl.1_Missense_Mutation_p.V182F|GDPD2_uc011mpm.1_Missense_Mutation_p.V182F NM_017711 NP_060181 Q9HCC8 GDPD2_HUMAN osteoblast differentiation promoting factor 261 GDPD.|Extracellular (Potential). glycerol metabolic process|lipid metabolic process cytoplasm|cytoskeleton|integral to membrane|plasma membrane glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding ovary(2) 2 Renal(35;0.156) TGATGTGATGGTCAGGTGAGG 0.582 NA 5 29 1.024e-07 1.55521e-07 0.000602 1 0 MID2 11043 broad.mit.edu 37 X 107170202 107170202 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chrX:107170202G>T uc004enl.2 + 10 2680 c.2107G>T c.(2107-2109)GGC>TGC p.G703C MID2_uc004enk.2_Missense_Mutation_p.G673C NM_012216 NP_036348 Q9UJV3 TRIM1_HUMAN midline 2 isoform 1 703 B30.2/SPRY. centrosome|microtubule ligase activity|zinc ion binding ovary(1) 1 GATCCTGTCTGGCTTGCCTGC 0.443 NA 19 42 3.99206e-14 7.36337e-14 0.007413 1 0 COL4A6 1288 broad.mit.edu 37 X 107417713 107417713 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chrX:107417713C>A uc004enw.3 - 31 3201 c.3098G>T c.(3097-3099)GGG>GTG p.G1033V COL4A6_uc004env.3_Missense_Mutation_p.G1032V|COL4A6_uc011msn.1_Missense_Mutation_p.G1032V|COL4A6_uc010npk.2_Missense_Mutation_p.G1032V NM_001847 NP_001838 Q14031 CO4A6_HUMAN type IV alpha 6 collagen isoform A precursor 1033 Triple-helical region. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding ovary(6)|urinary_tract(1)|large_intestine(1) 8 CCCAGAGGACCCCTTCAGGCC 0.557 Melanoma(87;1895 1945 2589 7165) NA Alport_syndrome_with_Diffuse_Leiomyomatosis 18 33 1.00905e-13 1.85621e-13 0.008871 1 0 GLUD2 2747 broad.mit.edu 37 X 120182771 120182771 + Silent SNP A A G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chrX:120182771A>G uc004eto.2 + 1 1310 c.1233A>G c.(1231-1233)CCA>CCG p.P411P NM_012084 NP_036216 P49448 DHE4_HUMAN glutamate dehydrogenase 2 precursor 411 glutamate biosynthetic process|glutamate catabolic process mitochondrial matrix ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding pancreas(1) 1 L-Glutamic Acid(DB00142)|NADH(DB00157) CAACAACTCCAGAAGCTGATA 0.463 NA 27 151 0 0 0.00632 0 0 THOC2 57187 broad.mit.edu 37 X 122778518 122778518 + Silent SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chrX:122778518C>A uc004etu.2 - 15 1601 c.1569G>T c.(1567-1569)CTG>CTT p.L523L THOC2_uc011muh.1_Silent_p.L444L|THOC2_uc011mui.1_Silent_p.L408L NM_001081550 NP_001075019 Q8NI27 THOC2_HUMAN THO complex 2 523 intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex protein binding|RNA binding ovary(3) 3 ACTGGCCATACAGACGATATC 0.289 NA 3 13 6.4e-05 8.171e-05 0.004672 1 0 GPR101 83550 broad.mit.edu 37 X 136112879 136112879 + Missense_Mutation SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chrX:136112879C>T uc011mwh.1 - 1 955 c.955G>A c.(955-957)GAG>AAG p.E319K NM_054021 NP_473362 Q96P66 GP101_HUMAN G protein-coupled receptor 101 319 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3)|lung(1)|skin(1) 5 Acute lymphoblastic leukemia(192;0.000127) TCCTTACCCTCCATGCTGCCG 0.587 NA 44 205 0 0 0.01441 0 0 PRRG3 79057 broad.mit.edu 37 X 150869328 150869328 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chrX:150869328C>A uc004few.1 + 4 909 c.519C>A c.(517-519)AGC>AGA p.S173R NM_024082 NP_076987 Q9BZD7 TMG3_HUMAN proline rich Gla (G-carboxyglutamic acid) 3 173 Cytoplasmic (Potential). extracellular region|integral to membrane calcium ion binding ovary(3)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) GGCTAGAGAGCACCCTCTACC 0.667 NA 11 22 5.16669e-11 8.86454e-11 0.010729 1 0 GABRQ 55879 broad.mit.edu 37 X 151821180 151821180 + Silent SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chrX:151821180C>A uc004ffp.1 + 9 1355 c.1335C>A c.(1333-1335)GCC>GCA p.A445A NM_018558 NP_061028 Q9UN88 GBRT_HUMAN gamma-aminobutyric acid (GABA) receptor, theta 445 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity ovary(2)|pancreas(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) CCCCCCTGGCCACTGGAGAAA 0.592 NA 34 73 3.90053e-15 7.29229e-15 0.012213 1 0 HCFC1 3054 broad.mit.edu 37 X 153219910 153219910 + Nonsense_Mutation SNP G G A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chrX:153219910G>A uc004fjp.2 - 17 4468 c.3940C>T c.(3940-3942)CAG>TAG p.Q1314* NM_005334 NP_005325 P51610 HCFC1_HUMAN host cell factor 1 1314 HCF repeat 6. cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(2) 2 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CACACCCTCTGGGCGCTGCCT 0.677 NA 33 146 0 0 0.003755 0 0 IL9R 3581 broad.mit.edu 37 X 155234100 155234100 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chrX:155234100C>A uc004fnv.1 + 5 628 c.449C>A c.(448-450)CCC>CAC p.P150H IL9R_uc010nvn.2_Missense_Mutation_p.P129H|IL9R_uc004fnu.1_Intron NM_002186 NP_002177 Q01113 IL9R_HUMAN interleukin 9 receptor precursor 150 Extracellular (Potential).|Fibronectin type-III. cell proliferation extracellular space|integral to plasma membrane interleukin-9 receptor activity 0 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) CTGGACCCGCCCTCTGACTTG 0.542 NA 6 37 5.18039e-06 7.1425e-06 0.00308 1 0 LGR6 59352 broad.mit.edu 37 1 202288091 202288091 + Frame_Shift_Del DEL G G - rs151146799 byFrequency TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:202288091delG uc001gxu.2 + 18 2660 c.2660delG c.(2659-2661)CGGfs p.R887fs LGR6_uc001gxv.2_Frame_Shift_Del_p.R835fs|LGR6_uc009xab.2_RNA|LGR6_uc001gxw.2_Frame_Shift_Del_p.R748fs NM_001017403 NP_001017403 Q9HBX8 LGR6_HUMAN leucine-rich repeat-containing G protein-coupled 887 Cytoplasmic (Potential). integral to membrane|plasma membrane protein-hormone receptor activity large_intestine(4)|ovary(3)|skin(2)|pancreas(1) 10 GAAGCTGGGCGGCCCCCTGGG 0.627 NA 16 57 --- --- --- --- NA NA NA NA NA FH 2271 broad.mit.edu 37 1 241675385 241675385 + Frame_Shift_Del DEL C C - rs11545654 TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:241675385delC uc001hyx.2 - 4 469 c.437delG c.(436-438)GGAfs p.G146fs NM_000143 NP_000134 P07954 FUMH_HUMAN fumarate hydratase precursor 146 fumarate metabolic process|tricarboxylic acid cycle cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex fumarate hydratase activity lung(3)|ovary(1)|skin(1) 5 Ovarian(103;0.103) all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118) OV - Ovarian serous cystadenocarcinoma(106;0.0214) Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109) TGTCTGAGTTCCTGATCCAGT 0.353 Melanoma(148;1573 2486 7381 46575) NA Mis|N|F lieomyomatosis|renal Hereditary_Leiomyomatosis_and_Renal_Cell_Cancer 7 78 --- --- --- --- NA NA NA NA NA TYR 7299 broad.mit.edu 37 11 88961080 88961081 + Frame_Shift_Ins INS - - A rs61754389 TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:88961080_88961081insA uc001pcs.2 + 3 1208_1209 c.1126_1127insA c.(1126-1128)CAGfs p.Q376fs NM_000372 NP_000363 P14679 TYRO_HUMAN tyrosinase precursor 376 Lumenal, melanosome (Potential). TMSQVQ -> HVPGT (in Ref. 2; AAA61241). eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033) Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157) AACAATGTCCCAGGTACAGGGA 0.411 NA Oculocutaneous_Albinism 7 68 --- --- --- --- NA NA NA NA NA STRN4 29888 broad.mit.edu 37 19 47231253 47231253 + Frame_Shift_Del DEL C C - TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr19:47231253delC uc002pfl.2 - 8 1084 c.1051delG c.(1051-1053)GTCfs p.V351fs STRN4_uc002pfm.2_Frame_Shift_Del_p.V351fs|STRN4_uc010xyf.1_RNA|STRN4_uc010xyg.1_RNA NM_013403 NP_037535 Q9NRL3 STRN4_HUMAN zinedin isoform 1 351 cytoplasm|membrane armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding 0 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035) TGGAGTTTGACCCGACGGCTT 0.647 NA 10 32 --- --- --- --- NA NA NA NA NA FIZ1 84922 broad.mit.edu 37 19 56104337 56104337 + Frame_Shift_Del DEL C C - TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr19:56104337delC uc002qli.3 - 3 1060 c.970delG c.(970-972)GAGfs p.E324fs FIZ1_uc002qlj.3_Frame_Shift_Del_p.E324fs NM_032836 NP_116225 Q96SL8 FIZ1_HUMAN FLT3-interacting zinc finger 1 324 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding 0 BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.107) TCCGAGGGCTCGGCGGCCGCC 0.776 NA 2 4 --- --- --- --- NA NA NA NA NA NLRP8 126205 broad.mit.edu 37 19 56490891 56490891 + Frame_Shift_Del DEL A A - TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr19:56490891delA uc002qmh.2 + 9 3079 c.3008delA c.(3007-3009)GAGfs p.E1003fs NLRP8_uc010etg.2_Frame_Shift_Del_p.E984fs NM_176811 NP_789781 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 1003 LRR 6. cytoplasm ATP binding ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1) 13 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) ACCTTGTGCGAGGCCTTCTCA 0.478 NA 14 75 --- --- --- --- NA NA NA NA NA DEFB116 245930 broad.mit.edu 37 20 29891135 29891136 + Frame_Shift_Ins INS - - T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr20:29891135_29891136insT uc010ztm.1 - 2 188_189 c.188_189insA c.(187-189)AATfs p.N63fs NM_001037731 NP_001032820 Q30KQ4 DB116_HUMAN beta-defensin 116 precursor 63 defense response to bacterium extracellular region 0 all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) ACTTTTGATCATTTGGGCAGGT 0.416 NA 34 242 --- --- --- --- NA NA NA NA NA SH3BGR 6450 broad.mit.edu 37 21 40823995 40823995 + Frame_Shift_Del DEL G G - TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr21:40823995delG uc002yya.2 + 1 216 c.162delG c.(160-162)TTGfs p.L54fs SH3BGR_uc002yxz.2_Intron NM_007341 NP_031367 P55822 SH3BG_HUMAN SH3-binding domain and glutamic acid-rich 54 protein complex assembly cytosol SH3 domain binding|SH3/SH2 adaptor activity 0 all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133) STAD - Stomach adenocarcinoma(101;0.00151) GGGGTGTGTTGGGGGGAGTCC 0.552 NA 42 116 --- --- --- --- NA NA NA NA NA PCNT 5116 broad.mit.edu 37 21 47832852 47832852 + Frame_Shift_Del DEL G G - TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr21:47832852delG uc002zji.3 + 29 6203 c.6096delG c.(6094-6096)TCGfs p.S2032fs PCNT_uc002zjj.2_Frame_Shift_Del_p.S1914fs NM_006031 NP_006022 O95613 PCNT_HUMAN pericentrin 2032 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding ovary(4)|breast(2)|pancreas(2) 8 Breast(49;0.112) AGCTGCAGTCGGAGCTGCTCT 0.617 NA 9 61 --- --- --- --- NA NA NA NA NA SH3RF1 57630 broad.mit.edu 37 4 170043254 170043255 + Frame_Shift_Del DEL CT CT - TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 CT CT - - CT CT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr4:170043254_170043255delCT uc003isa.1 - 7 1677_1678 c.1342_1343delAG c.(1342-1344)AGTfs p.S448fs SH3RF1_uc010irc.1_Frame_Shift_Del_p.S148fs NM_020870 NP_065921 Q7Z6J0 SH3R1_HUMAN SH3 domain containing ring finger 1 448 SH3 3.|Interaction with AKT2 (By similarity). Golgi apparatus|lamellipodium|perinuclear region of cytoplasm ligase activity|zinc ion binding breast(2)|lung(1) 3 Prostate(90;0.00267)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0287) CACTTACACACTGGGGCGAGTC 0.545 NA 9 34 --- --- --- --- NA NA NA NA NA VCAN 1462 broad.mit.edu 37 5 82836883 82836884 + Frame_Shift_Ins INS - - C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr5:82836883_82836884insC uc003kii.3 + 8 8417_8418 c.8061_8062insC c.(8059-8064)CTTCCCfs p.L2687fs VCAN_uc003kij.3_Frame_Shift_Ins_p.L1700fs|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Frame_Shift_Ins_p.L1351fs NM_004385 NP_004376 P13611 CSPG2_HUMAN versican isoform 1 precursor 2687_2688 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding ovary(7)|skin(6)|lung(2)|central_nervous_system(1) 16 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) ACGTTTTACTTCCCACGGCAAC 0.441 NA 9 49 --- --- --- --- NA NA NA NA NA OCRL 4952 broad.mit.edu 37 X 128722155 128722155 + Splice_Site DEL G G - TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chrX:128722155delG uc004euq.2 + 21 2422 c.2257_splice c.e21-1 p.E753_splice OCRL_uc004eur.2_Splice_Site_p.E745_splice|OCRL_uc010nrb.2_5'Flank NM_000276 NP_000267 Q01968 OCRL_HUMAN phosphatidylinositol polyphosphate 5-phosphatase regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding lung(2)|ovary(1)|kidney(1) 4 TTCTTTGGTAGGAGGACCTGT 0.488 NA 12 34 --- --- --- --- NA NA NA NA NA BCORL1 63035 broad.mit.edu 37 X 129149178 129149178 + Frame_Shift_Del DEL G G - TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chrX:129149178delG uc004evb.1 + 4 2544 c.2430delG c.(2428-2430)CCGfs p.P810fs BCORL1_uc010nrd.1_Frame_Shift_Del_p.P712fs NM_021946 NP_068765 Q5H9F3 BCORL_HUMAN BCL6 co-repressor-like 1 810 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ovary(4)|breast(2)|lung(1) 7 CCACGGGGCCGGCAAATATTT 0.577 NA 25 74 --- --- --- --- NA NA NA NA NA