Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut C1orf159 54991 broad.mit.edu 37 1 1019467 1019467 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:1019467C>T uc001act.2 - 11 1362 c.876G>A c.(874-876)GAG>GAA p.E292E C1orf159_uc001acu.2_Intron|C1orf159_uc001acr.2_Splice_Site|C1orf159_uc001acs.2_Splice_Site|C1orf159_uc010nyd.1_Splice_Site|C1orf159_uc001acm.2_Intron|C1orf159_uc009vju.1_Intron|C1orf159_uc001acn.2_Silent_p.E256E|C1orf159_uc001acp.2_Intron NM_017891 NP_060361 Q96HA4 CA159_HUMAN hypothetical protein LOC54991 292 integral to membrane 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;2.96e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.77e-22)|Colorectal(212;6.51e-05)|COAD - Colon adenocarcinoma(227;0.000214)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205) GACCCCACGTCTCGGGAACAG 0.647 NA 3 23 0 0 0 0 TAS1R3 83756 broad.mit.edu 37 1 1268701 1268701 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:1268701C>G uc010nyk.1 + 5 1542 c.1542C>G c.(1540-1542)TTC>TTG p.F514L NM_152228 NP_689414 Q7RTX0 TS1R3_HUMAN taste receptor, type 1, member 3 precursor 514 Extracellular (Potential). detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146) Aspartame(DB00168) TCAAGGGGTTCCACTCCTGCT 0.711 NA 4 8 0 0 0 0 PLCH2 9651 broad.mit.edu 37 1 2428128 2428128 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:2428128G>A uc001aji.1 + 14 2192 c.1918G>A c.(1918-1920)GAC>AAC p.D640N PLCH2_uc010nyz.1_Missense_Mutation_p.D428N|PLCH2_uc009vle.1_Missense_Mutation_p.D428N|PLCH2_uc001ajj.1_Missense_Mutation_p.D428N|PLCH2_uc001ajk.1_Missense_Mutation_p.D428N|PLCH2_uc001ajl.1_5'Flank NM_014638 NP_055453 O75038 PLCH2_HUMAN phospholipase C, eta 2 640 PI-PLC Y-box. intracellular signal transduction|lipid catabolic process cytoplasm|plasma membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity central_nervous_system(3)|ovary(1)|skin(1) 5 all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2) GGCCACCCACGACATAGAGAT 0.682 NA 4 14 0 0 0 0 KIAA0562 9731 broad.mit.edu 37 1 3756183 3756183 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:3756183C>G uc001aky.2 - 7 1083 c.724G>C c.(724-726)GAT>CAT p.D242H KIAA0562_uc010nzm.1_RNA|KIAA0562_uc001akz.2_Missense_Mutation_p.D242H NM_014704 NP_055519 O60308 CE104_HUMAN glycine-, glutamate-, 242 Potential. centriole binding 0 all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227) all_epithelial(116;3.96e-21)|all_lung(118;2.74e-08)|Lung NSC(185;6.4e-06)|Breast(487;0.00066)|Renal(390;0.00121)|Hepatocellular(190;0.00335)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.031)|Lung SC(97;0.0548)|Medulloblastoma(700;0.212) Epithelial(90;6.85e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.59e-22)|GBM - Glioblastoma multiforme(42;3.16e-16)|Colorectal(212;2.01e-05)|COAD - Colon adenocarcinoma(227;7.99e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000389)|Kidney(185;0.000513)|STAD - Stomach adenocarcinoma(132;0.00709)|KIRC - Kidney renal clear cell carcinoma(229;0.00714)|Lung(427;0.137) TTTTGCAAATCAGCAATGGCT 0.348 NA 14 89 0 0 0 0 PRAMEF2 65122 broad.mit.edu 37 1 12918895 12918895 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:12918895G>C uc001aum.1 + 2 118 c.31G>C c.(31-33)GAG>CAG p.E11Q NM_023014 NP_075390 O60811 PRAM2_HUMAN PRAME family member 2 11 0 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GAGACTACTGGAGCTGGCGGG 0.557 NA 35 148 0 0 0 0 DDI2 84301 broad.mit.edu 37 1 15983119 15983119 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:15983119G>A uc001awx.1 + 9 1287 c.1191G>A c.(1189-1191)CAG>CAA p.Q397Q DDI2_uc009voj.1_Silent_p.Q138Q NM_032341 NP_115717 Q5TDH0 DDI2_HUMAN DNA-damage inducible protein 2 397 proteolysis aspartic-type endopeptidase activity 0 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656) CAGAGCGTCAGAAGCCATGAT 0.458 NA 39 93 0 0 0 0 C1orf89 79363 broad.mit.edu 37 1 16563180 16563180 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:16563180C>T uc001ayd.2 - 1 480 c.58G>A c.(58-60)GAG>AAG p.E20K NM_030907 NP_112169 Q9BU20 RSG1_HUMAN hypothetical protein LOC79363 20 cellular protein localization|cilium assembly|exocytosis|protein transport|regulation of exocytosis|regulation of vesicle fusion|small GTPase mediated signal transduction cilium|microtubule basal body GTP binding 0 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;3.2e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0114)|READ - Rectum adenocarcinoma(331;0.0649) TCCTTGCCCTCGGCACTCTCG 0.632 NA 3 5 0 0 0 0 RCC2 55920 broad.mit.edu 37 1 17749292 17749292 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:17749292C>G uc001bal.2 - 4 611 c.564G>C c.(562-564)AAG>AAC p.K188N RCC2_uc001bam.2_Missense_Mutation_p.K188N NM_001136204 NP_001129676 Q9P258 RCC2_HUMAN regulator of chromosome condensation 2 188 RCC1 2. cell division|mitotic prometaphase chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle 0 Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19) CTTCTACTCTCTTGGTGTCAC 0.557 NA 21 68 0 0 0 0 IGSF21 84966 broad.mit.edu 37 1 18703351 18703351 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:18703351G>A uc001bau.1 + 8 1542 c.1159G>A c.(1159-1161)GAC>AAC p.D387N IGSF21_uc001bav.1_Missense_Mutation_p.D208N NM_032880 NP_116269 Q96ID5 IGS21_HUMAN immunoglobin superfamily, member 21 precursor 387 Ig-like 2. extracellular region ovary(2)|large_intestine(1)|skin(1) 4 Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157) CCGCCTCCTGGACGGCAGCGC 0.657 NA 20 43 0 0 0 0 AKR7L 246181 broad.mit.edu 37 1 19597298 19597298 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:19597298C>T uc010ocx.1 - 3 346 c.346G>A c.(346-348)GAC>AAC p.D116N AKR7L_uc010ocy.1_Missense_Mutation_p.D116N NM_201252 NP_957704 aflatoxin B1 aldehyde reductase 3 isoform 1 0 GCGCTGTGGTCAGGTGCATGT 0.622 NA 11 31 0 0 0 0 AHDC1 27245 broad.mit.edu 37 1 27876393 27876393 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:27876393C>T uc009vsy.2 - 6 3203 c.2234G>A c.(2233-2235)CGG>CAG p.R745Q AHDC1_uc009vsz.1_Missense_Mutation_p.R745Q NM_001029882 NP_001025053 Q5TGY3 AHDC1_HUMAN AT hook, DNA binding motif, containing 1 745 Gly-rich. DNA binding central_nervous_system(1) 1 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291) CCCATTCTTCCGGGACCGTCT 0.677 NA 10 43 0 0 0 0 OSCP1 127700 broad.mit.edu 37 1 36883811 36883811 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:36883811C>G uc001cap.2 - 11 1181 c.1099G>C c.(1099-1101)GAG>CAG p.E367Q OSCP1_uc001caq.2_Missense_Mutation_p.E357Q NM_145047 NP_659484 Q8WVF1 OSCP1_HUMAN oxidored-nitro domain-containing protein isoform 367 transport basal plasma membrane ovary(2)|central_nervous_system(1)|pancreas(1) 4 TCCGTGATCTCAAACTCCCCC 0.577 NA 7 36 0 0 0 0 RIMKLA 284716 broad.mit.edu 37 1 42880305 42880305 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:42880305G>C uc001chi.2 + 5 974 c.836G>C c.(835-837)GGC>GCC p.G279A NM_173642 NP_775913 Q8IXN7 RIMKA_HUMAN ribosomal modification protein rimK-like family 279 ATP-grasp. protein modification process cytoplasm acid-amino acid ligase activity|ATP binding|metal ion binding 0 GCTAATGTTGGCTTCCTAGCC 0.483 NA 23 270 0 0 0 0 SLC2A1 6513 broad.mit.edu 37 1 43394969 43394969 + Missense_Mutation SNP G G C rs80359823 TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:43394969G>C uc001cik.2 - 7 1409 c.884C>G c.(883-885)ACG>AGG p.T295R NM_006516 NP_006507 P11166 GTR1_HUMAN solute carrier family 2 (facilitated glucose 295 Extracellular (Potential). T -> M (in GLUT1DS1; 75% of wild-type glucose uptake activity). carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process integral to membrane|melanosome|membrane fraction|midbody D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity central_nervous_system(2)|pancreas(2)|ovary(1) 5 Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0122) Etomidate(DB00292) GAAGATGCTCGTGGAGTAATA 0.572 NA 7 9 0 0 0 0 MPL 4352 broad.mit.edu 37 1 43812513 43812513 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:43812513C>G uc001ciw.2 + 8 1261 c.1216C>G c.(1216-1218)CTG>GTG p.L406V MPL_uc001civ.2_Missense_Mutation_p.L406V|MPL_uc009vwr.2_Missense_Mutation_p.L399V NM_005373 NP_005364 P40238 TPOR_HUMAN myeloproliferative leukemia virus oncogene 406 Fibronectin type-III 2.|Extracellular (Potential). cell proliferation|platelet activation integral to plasma membrane cytokine receptor activity haematopoietic_and_lymphoid_tissue(361)|upper_aerodigestive_tract(1)|pancreas(1) 363 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CAGTGGGCATCTGGAATTGGA 0.567 NA Mis MPD MPD congenital amegakaryocytic thrombocytopenia 17 80 0 0 0 0 KIAA0467 23334 broad.mit.edu 37 1 43907767 43907767 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:43907767G>A uc001cjk.1 + 41 5604 c.5142G>A c.(5140-5142)AGG>AGA p.R1714R NM_015284 NP_056099 Q5T011 SZT2_HUMAN hypothetical protein LOC23334 2613 peroxisome 0 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) TTCTGGGAAGGAACTTCTTGC 0.527 NA 4 46 0 0 0 0 TMEM53 79639 broad.mit.edu 37 1 45120816 45120816 + Silent SNP G G T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:45120816G>T uc001cmc.2 - 3 285 c.249C>A c.(247-249)ATC>ATA p.I83I TMEM53_uc001cmb.1_Intron|TMEM53_uc001cmd.2_Silent_p.I10I|TMEM53_uc009vxh.1_Intron|TMEM53_uc010ola.1_Intron NM_024587 NP_078863 Q6P2H8 TMM53_HUMAN transmembrane protein 53 83 integral to membrane ovary(2) 2 Acute lymphoblastic leukemia(166;0.155) GAAGTGAAGGGATACCCAGTG 0.552 NA OREG0013446 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 47 4.69e-08 5e-08 1 0 PTCH2 8643 broad.mit.edu 37 1 45295679 45295679 + Silent SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:45295679C>G uc010olf.1 - 7 849 c.837G>C c.(835-837)CTG>CTC p.L279L PTCH2_uc010olg.1_5'UTR NM_003738 NP_003729 Q9Y6C5 PTC2_HUMAN patched 2 279 Extracellular (Potential). protein complex assembly|spermatogenesis integral to plasma membrane hedgehog receptor activity lung(6)|breast(6)|central_nervous_system(3)|skin(2)|ovary(1) 18 Acute lymphoblastic leukemia(166;0.155) AGCCCCCACTCAGCTCGTGAG 0.607 NA Basal_Cell_Nevus_syndrome 10 42 0 0 0 0 LRRC41 10489 broad.mit.edu 37 1 46745255 46745255 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:46745255C>T uc001cpn.2 - 8 2096 c.2052G>A c.(2050-2052)GAG>GAA p.E684E LRRC41_uc010omb.1_Silent_p.E684E NM_006369 NP_006360 Q15345 LRC41_HUMAN MUF1 protein 684 ovary(2)|breast(1)|pancreas(1) 4 Acute lymphoblastic leukemia(166;0.155) CTGGGCGCTTCTCAAACAGAC 0.552 NA 45 132 0 0 0 0 MKNK1 8569 broad.mit.edu 37 1 47046281 47046281 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:47046281G>A uc001cqb.2 - 4 399 c.155C>T c.(154-156)TCT>TTT p.S52F MKNK1_uc010omd.1_5'UTR|MKNK1_uc001cqc.2_Missense_Mutation_p.S52F|MKNK1_uc009vyi.2_Missense_Mutation_p.S52F|MKNK1_uc010ome.1_5'UTR|MKNK1_uc009vyj.2_Intron|MKNK1_uc001cqd.2_Missense_Mutation_p.S40F|MKNK1_uc010omf.1_Missense_Mutation_p.S52F NM_003684 NP_003675 Q9BUB5 MKNK1_HUMAN MAP kinase-interacting serine/threonine kinase 1 52 Protein kinase. intracellular protein kinase cascade|peptidyl-serine phosphorylation|regulation of translation cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity lung(2) 2 Acute lymphoblastic leukemia(166;0.155) AAGCAATTCAGAGGTCAGCTT 0.478 NA 22 41 0 0 0 0 OSBPL9 114883 broad.mit.edu 37 1 52246990 52246990 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:52246990G>A uc001cst.2 + 16 1430 c.1411G>A c.(1411-1413)GAT>AAT p.D471N OSBPL9_uc001css.2_Missense_Mutation_p.D476N|OSBPL9_uc001csx.2_RNA|OSBPL9_uc009vza.2_Missense_Mutation_p.D472N|OSBPL9_uc001csu.2_Missense_Mutation_p.D481N|OSBPL9_uc001csv.2_Missense_Mutation_p.D306N|OSBPL9_uc001csw.2_Missense_Mutation_p.D458N|OSBPL9_uc001csy.2_Missense_Mutation_p.D293N|OSBPL9_uc001csz.2_Missense_Mutation_p.D293N|OSBPL9_uc001cta.2_Missense_Mutation_p.D361N|OSBPL9_uc001ctb.2_Missense_Mutation_p.D256N NM_024586 NP_078862 Q96SU4 OSBL9_HUMAN oxysterol binding protein-like 9 isoform e 471 lipid transport lipid binding central_nervous_system(1) 1 ATTACCAAATGATACTGAAGA 0.358 NA 12 22 0 0 0 0 FAM151A 338094 broad.mit.edu 37 1 55081832 55081832 + Silent SNP G G T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:55081832G>T uc001cxn.2 - 3 408 c.276C>A c.(274-276)GTC>GTA p.V92V ACOT11_uc001cxm.1_Intron NM_176782 NP_788954 Q8WW52 F151A_HUMAN hypothetical protein LOC338094 92 integral to membrane 0 CAGCCTCCAGGACTGTGATGT 0.408 NA 29 69 1.75e-11 1.88e-11 1 0 FGGY 55277 broad.mit.edu 37 1 59844477 59844477 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:59844477C>G uc001czi.3 + 5 734 c.522C>G c.(520-522)TTC>TTG p.F174L FGGY_uc001czg.2_Missense_Mutation_p.F62L|FGGY_uc001czh.2_RNA|FGGY_uc009wac.2_Missense_Mutation_p.F174L|FGGY_uc001czj.3_Missense_Mutation_p.F174L|FGGY_uc001czk.3_Missense_Mutation_p.F62L|FGGY_uc001czl.3_Missense_Mutation_p.F86L NM_018291 NP_060761 Q96C11 FGGY_HUMAN FGGY carbohydrate kinase domain containing 174 carbohydrate metabolic process|cell death|neuron homeostasis kinase activity|phosphotransferase activity, alcohol group as acceptor ovary(1) 1 all_cancers(7;7.36e-05) TCCCGGACTTCTTATCGTGGA 0.393 NA 3 47 0 0 0 0 DNTTIP2 30836 broad.mit.edu 37 1 94337703 94337703 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:94337703C>T uc001dqf.2 - 5 2030 c.1992G>A c.(1990-1992)CTG>CTA p.L664L DNTTIP2_uc010otm.1_RNA NM_014597 NP_055412 Q5QJE6 TDIF2_HUMAN deoxynucleotidyltransferase, terminal, 664 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 all_lung(203;0.0111)|Lung NSC(277;0.0347) all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128) CTCTCATCTTCAGTGCTTTGA 0.403 NA 72 151 0 0 0 0 AGL 178 broad.mit.edu 37 1 100346890 100346890 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:100346890C>T uc001dsi.1 + 16 2444 c.2044C>T c.(2044-2046)CCT>TCT p.P682S AGL_uc001dsj.1_Missense_Mutation_p.P682S|AGL_uc001dsk.1_Missense_Mutation_p.P682S|AGL_uc001dsl.1_Missense_Mutation_p.P682S|AGL_uc001dsm.1_Missense_Mutation_p.P666S|AGL_uc001dsn.1_Missense_Mutation_p.P665S NM_000642 NP_000633 P35573 GDE_HUMAN amylo-1,6-glucosidase, 682 4-alpha-glucanotransferase. glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|isoamylase complex|nucleus 4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131) Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237) TAAGTGGAATCCTGAAGCATT 0.373 NA 19 58 0 0 0 0 AGL 178 broad.mit.edu 37 1 100366244 100366244 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:100366244C>G uc001dsi.1 + 26 3815 c.3415C>G c.(3415-3417)CTA>GTA p.L1139V AGL_uc001dsj.1_Missense_Mutation_p.L1139V|AGL_uc001dsk.1_Missense_Mutation_p.L1139V|AGL_uc001dsl.1_Missense_Mutation_p.L1139V|AGL_uc001dsm.1_Missense_Mutation_p.L1123V|AGL_uc001dsn.1_Missense_Mutation_p.L1122V NM_000642 NP_000633 P35573 GDE_HUMAN amylo-1,6-glucosidase, 1139 4-alpha-glucanotransferase. glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|isoamylase complex|nucleus 4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131) Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237) CATTCCTAATCTACTGGGTGA 0.398 NA 37 151 0 0 0 0 C1orf59 113802 broad.mit.edu 37 1 109191450 109191450 + Nonsense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:109191450G>C uc001dvt.3 - 8 1158 c.920C>G c.(919-921)TCA>TGA p.S307* C1orf59_uc001dvu.3_Nonsense_Mutation_p.S307*|C1orf59_uc009wer.2_3'UTR NM_001102592 NP_001096062 Q5T8I9 HENMT_HUMAN hypothetical protein LOC113802 307 gene silencing by RNA|piRNA metabolic process P granule metal ion binding|O-methyltransferase activity|RNA binding|RNA methyltransferase activity 0 all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508) Colorectal(144;0.0152)|Lung(183;0.0895)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.163) AGGGGCCTTTGAGCCACCAAT 0.517 NA 9 56 0 0 0 0 GPSM2 29899 broad.mit.edu 37 1 109461321 109461321 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:109461321G>A uc010ovc.1 + 12 1846 c.1350G>A c.(1348-1350)CTG>CTA p.L450L AKNAD1_uc010ovb.1_Intron|GPSM2_uc010ovd.1_Silent_p.L450L|GPSM2_uc010ove.1_Silent_p.L450L NM_013296 NP_037428 P81274 GPSM2_HUMAN LGN protein 450 G-protein coupled receptor protein signaling pathway cell cortex|nucleus GTPase activator activity|identical protein binding central_nervous_system(1) 1 all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626) Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209) TCAACAGACTGAAGGGGAAAA 0.373 NA 9 56 0 0 0 0 CELSR2 1952 broad.mit.edu 37 1 109795615 109795615 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:109795615G>A uc001dxa.3 + 1 2975 c.2914G>A c.(2914-2916)GAC>AAC p.D972N NM_001408 NP_001399 Q9HCU4 CELR2_HUMAN cadherin EGF LAG seven-pass G-type receptor 2 972 Extracellular (Potential).|Cadherin 8. dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(4)|lung(3)|skin(1) 8 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) CTTTCAGCTGGACATCTTCTC 0.592 NA 28 76 0 0 0 0 SLC22A15 55356 broad.mit.edu 37 1 116577934 116577934 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:116577934G>A uc001egb.3 + 7 1201 c.1071G>A c.(1069-1071)TTG>TTA p.L357L NM_018420 NP_060890 Q8IZD6 S22AF_HUMAN solute carrier family 22, member 15 357 Helical; (Potential). ion transport integral to membrane transmembrane transporter activity large_intestine(2) 2 Lung SC(450;0.184) all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-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) GTATCTACTTGATTAACCAAA 0.438 NA 12 28 0 0 0 0 WDR3 10885 broad.mit.edu 37 1 118483837 118483837 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:118483837C>G uc010oxe.1 + 8 946 c.880C>G c.(880-882)CTT>GTT p.L294V WDR3_uc001ehi.2_Intron|WDR3_uc001ehh.2_Missense_Mutation_p.L123V NM_006784 NP_006775 Q9UNX4 WDR3_HUMAN WD repeat-containing protein 3 294 WD 6. nuclear membrane|nucleolus upper_aerodigestive_tract(1) 1 Esophageal squamous(2;0.162) all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244) OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185) AGGCAGGATTCTTGCTTGCCA 0.413 NA 5 55 0 0 0 0 NBPF10 100132406 broad.mit.edu 37 1 145368591 145368591 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:145368591C>T uc001end.3 + 86 10829 c.10794C>T c.(10792-10794)ATC>ATT p.I3598I NBPF9_uc010oye.1_Silent_p.I882I|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Silent_p.I451I|NBPF10_uc010oyk.1_Silent_p.I239I|NBPF10_uc010oyl.1_Silent_p.I239I NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN hypothetical protein LOC100132406 3523 0 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) AACAGCACATCAGCTTCGCCC 0.448 NA 59 461 0 0 0 0 CHD1L 9557 broad.mit.edu 37 1 146756150 146756150 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:146756150G>A uc001epm.3 + 16 1895 c.1832G>A c.(1831-1833)CGA>CAA p.R611Q uc001epp.2_Intron|CHD1L_uc001epn.3_Missense_Mutation_p.R498Q|CHD1L_uc010ozo.1_RNA|CHD1L_uc009wjg.2_RNA|CHD1L_uc009wjh.2_Missense_Mutation_p.R517Q|CHD1L_uc010ozp.1_Missense_Mutation_p.R330Q|CHD1L_uc001epo.3_Missense_Mutation_p.R407Q|CHD1L_uc010ozq.1_Missense_Mutation_p.R184Q|CHD1L_uc009wji.2_Missense_Mutation_p.R330Q NM_004284 NP_004275 Q86WJ1 CHD1L_HUMAN chromodomain helicase DNA binding protein 611 chromatin remodeling|DNA repair cytoplasm|nucleus|plasma membrane ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding ovary(3)|lung(2)|upper_aerodigestive_tract(1) 6 all_hematologic(923;0.0487) CAAGAGGGCCGATCACTCCGA 0.348 NA 17 63 0 0 0 0 MCL1 4170 broad.mit.edu 37 1 150551469 150551469 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:150551469C>T uc001euz.2 - 1 668 c.538G>A c.(538-540)GAG>AAG p.E180K MCL1_uc010pch.1_Missense_Mutation_p.E70K|MCL1_uc001eva.2_Missense_Mutation_p.E180K NM_021960 NP_068779 Q07820 MCL1_HUMAN myeloid cell leukemia sequence 1 isoform 1 180 anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus integral to membrane|mitochondrial outer membrane|nucleoplasm BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity 0 all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) GAGATAATCTCCAGCGACTGC 0.627 NA 25 59 0 0 0 0 FLG 2312 broad.mit.edu 37 1 152282333 152282333 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:152282333G>C uc001ezu.1 - 3 5065 c.5029C>G c.(5029-5031)CCA>GCA p.P1677A NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1677 Ser-rich.|Filaggrin 10. 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) CTTTCTCCTGGACTTGACCTT 0.567 NA Ichthyosis 129 468 0 0 0 0 FLG 2312 broad.mit.edu 37 1 152283709 152283709 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:152283709C>G uc001ezu.1 - 3 3689 c.3653G>C c.(3652-3654)AGA>ACA p.R1218T uc001ezv.2_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1218 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) ACGAGTTTGTCTGCTTGCACT 0.552 NA Ichthyosis 126 378 0 0 0 0 FLG 2312 broad.mit.edu 37 1 152283989 152283989 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:152283989C>T uc001ezu.1 - 3 3409 c.3373G>A c.(3373-3375)GAA>AAA p.E1125K uc001ezv.2_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1125 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) TCAGACTGTTCATGAGTGCTC 0.607 NA Ichthyosis 124 299 0 0 0 0 FLG2 388698 broad.mit.edu 37 1 152323370 152323370 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:152323370G>A uc001ezw.3 - 3 6965 c.6892C>T c.(6892-6894)CAT>TAT p.H2298Y uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 2298 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) GTCTGTCCATGAGTAGTTTCC 0.483 NA 25 313 0 0 0 0 KPRP 448834 broad.mit.edu 37 1 152732722 152732722 + Nonsense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:152732722C>T uc001fal.1 + 2 716 c.658C>T c.(658-660)CAG>TAG p.Q220* NM_001025231 NP_001020402 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 220 cytoplasm ovary(4)|pancreas(1) 5 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CTGTTTCCCTCAGTATCGGTC 0.577 NA 9 138 0 0 0 0 S100A16 140576 broad.mit.edu 37 1 153580541 153580541 + Silent SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:153580541G>C uc001fcc.2 - 2 220 c.87C>G c.(85-87)GTC>GTG p.V29V S100A16_uc001fcd.1_Silent_p.V29V NM_080388 NP_525127 Q96FQ6 S10AG_HUMAN S100 calcium binding protein A16 29 1; low affinity (Potential).|EF-hand 1. cytosol|nucleolus calcium ion binding|protein homodimerization activity 0 all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) TCTTGTTCTTGACCAGGCTGT 0.532 NA 13 46 0 0 0 0 S100A14 57402 broad.mit.edu 37 1 153587810 153587810 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:153587810G>C uc001fce.2 - 3 176 c.78C>G c.(76-78)ATC>ATG p.I26M S100A16_uc001fcd.1_5'Flank NM_020672 NP_065723 Q9HCY8 S10AE_HUMAN S100 calcium binding protein A14 26 calcium ion homeostasis|defense response to bacterium|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|response to lipopolysaccharide|toll-like receptor 4 signaling pathway cell junction|microtubule cytoskeleton|perinuclear region of cytoplasm calcium ion binding|chemokine receptor binding 0 all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) GAAAGTTCTTGATGAGGGTCT 0.572 NA 20 38 0 0 0 0 NPR1 4881 broad.mit.edu 37 1 153661438 153661438 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:153661438C>T uc001fcs.3 + 16 2848 c.2427C>T c.(2425-2427)AGC>AGT p.S809S NPR1_uc010pdz.1_Silent_p.S555S|NPR1_uc010pea.1_Silent_p.S287S NM_000906 NP_000897 P16066 ANPRA_HUMAN natriuretic peptide receptor 1 precursor 809 Cytoplasmic (Potential). body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity ovary(3)|lung(2)|stomach(1)|breast(1) 7 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325) GGGAGAACAGCAGCAACATCC 0.637 NA 32 100 0 0 0 0 GATAD2B 57459 broad.mit.edu 37 1 153790563 153790563 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:153790563G>A uc001fdb.3 - 5 926 c.682C>T c.(682-684)CGG>TGG p.R228W NM_020699 NP_065750 Q8WXI9 P66B_HUMAN GATA zinc finger domain containing 2B 228 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) GCCCCAGGCCGAGAGGGAAGC 0.522 NA 46 129 0 0 0 0 DENND4B 9909 broad.mit.edu 37 1 153911479 153911479 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:153911479G>C uc001fdd.1 - 13 2263 c.1862C>G c.(1861-1863)TCT>TGT p.S621C NM_014856 NP_055671 O75064 DEN4B_HUMAN DENN/MADD domain containing 4B 621 dDENN. ovary(1) 1 all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) CAGCAGCTGAGAGTAAAGTTT 0.537 NA 4 17 0 0 0 0 HAX1 10456 broad.mit.edu 37 1 154246316 154246316 + Nonsense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:154246316C>G uc001fes.2 + 3 544 c.383C>G c.(382-384)TCA>TGA p.S128* HAX1_uc001fet.2_Nonsense_Mutation_p.S80*|HAX1_uc010peo.1_Nonsense_Mutation_p.S136*|HAX1_uc009wou.2_Nonsense_Mutation_p.S53*|HAX1_uc009wov.2_Nonsense_Mutation_p.S102* NM_006118 NP_006109 O00165 HAX1_HUMAN HCLS1 associated protein X-1 isoform a 128 Involved in HCLS1 binding. Cleavage; by caspase-3. actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction interleukin-1 binding|protein N-terminus binding 0 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) CTTCGGGACTCAATGCTTAAG 0.557 NA Kostmann_syndrome 26 103 0 0 0 0 RUSC1 23623 broad.mit.edu 37 1 155295461 155295461 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:155295461C>T uc001fkj.2 + 6 2041 c.1812C>T c.(1810-1812)CTC>CTT p.L604L RAG1AP1_uc010pey.1_Intron|C1orf104_uc001fki.2_5'Flank|RUSC1_uc001fkk.2_Silent_p.L604L|RUSC1_uc009wqn.1_Intron|RUSC1_uc009wqo.1_Silent_p.L135L|RUSC1_uc001fkl.2_Silent_p.L194L|RUSC1_uc001fkp.2_Silent_p.L135L|RUSC1_uc001fkq.2_Silent_p.L135L|RUSC1_uc010pgb.1_Silent_p.L102L|RUSC1_uc009wqp.1_Silent_p.L129L|RUSC1_uc001fkn.2_5'UTR|RUSC1_uc001fko.2_RNA|RUSC1_uc001fkr.2_Silent_p.L135L|RUSC1_uc001fks.2_5'UTR NM_001105203 NP_001098673 Q9BVN2 RUSC1_HUMAN RUN and SH3 domain containing 1 isoform a 604 RUN. cytoplasm|nucleolus SH3/SH2 adaptor activity ovary(2) 2 Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127) TGGGCCTCCTCAAGTGAGTTG 0.612 NA 9 15 0 0 0 0 BCAN 63827 broad.mit.edu 37 1 156621404 156621405 + Missense_Mutation DNP CC CC TT TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:156621404_156621405CC>TT uc001fpp.2 + 7 1556_1557 c.1220_1221CC>TT c.(1219-1221)TCC>TTT p.S407F BCAN_uc001fpo.2_Missense_Mutation_p.S407F NM_021948 NP_068767 Q96GW7 PGCB_HUMAN brevican isoform 1 407 Glu-rich. cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding ovary(1)|pancreas(1) 2 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GCCATCTACTCCATCCCCATCA 0.569 NA 9 90 0 0 0 0 FCRL4 83417 broad.mit.edu 37 1 157556066 157556066 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:157556066C>G uc001fqw.2 - 6 1163 c.1027G>C c.(1027-1029)GAG>CAG p.E343Q FCRL4_uc010phy.1_RNA NM_031282 NP_112572 Q96PJ5 FCRL4_HUMAN Fc receptor-like 4 precursor 343 Ig-like C2-type 4.|Extracellular (Potential). integral to membrane|plasma membrane receptor activity ovary(2)|kidney(1)|skin(1) 4 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.245) AGCTCCAGCTCTGCTCTCAGG 0.582 NA 24 70 0 0 0 0 F11R 50848 broad.mit.edu 37 1 160970527 160970527 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:160970527G>A uc009wtt.2 - 4 552 c.282C>T c.(280-282)ATC>ATT p.I94I F11R_uc010pjv.1_Intron|F11R_uc001fxe.3_Silent_p.I94I|F11R_uc009wtu.2_Silent_p.I94I|F11R_uc010pjw.1_Silent_p.I98I|F11R_uc001fxf.3_Silent_p.I94I NM_016946 NP_058642 Q9Y624 JAM1_HUMAN F11 receptor precursor 94 Extracellular (Potential).|Ig-like V-type 1. blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly integral to membrane|tight junction ovary(2) 2 all_cancers(52;6.73e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00207) ACTTGAAGGTGATACCAGTTG 0.537 NA 9 46 0 0 0 0 NR1I3 9970 broad.mit.edu 37 1 161199674 161199674 + Silent SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:161199674C>G uc001fzx.2 - 9 1175 c.972G>C c.(970-972)CGG>CGC p.R324R TOMM40L_uc010pkl.1_3'UTR|TOMM40L_uc001fzd.2_3'UTR|TOMM40L_uc009wue.2_3'UTR|TOMM40L_uc009wuf.1_RNA|TOMM40L_uc001fze.2_3'UTR|NR1I3_uc001fzf.2_Intron|NR1I3_uc001fzg.2_Intron|NR1I3_uc001fzh.2_Silent_p.R296R|NR1I3_uc001fzi.2_Intron|NR1I3_uc001fzj.2_Silent_p.R291R|NR1I3_uc001fzk.2_Intron|NR1I3_uc001fzl.2_Silent_p.R252R|NR1I3_uc001fzm.2_Silent_p.R245R|NR1I3_uc001fzn.2_Silent_p.R114R|NR1I3_uc009wug.2_Intron|NR1I3_uc001fzp.2_Silent_p.R329R|NR1I3_uc001fzo.2_Silent_p.R153R|NR1I3_uc001fzq.2_Intron|NR1I3_uc001fzr.2_3'UTR|NR1I3_uc001fzs.2_Intron|NR1I3_uc001fzt.2_Silent_p.R114R|NR1I3_uc001fzu.2_Intron|NR1I3_uc001fzv.2_3'UTR|NR1I3_uc001fzw.2_Intron|NR1I3_uc001fzy.2_Silent_p.R320R|NR1I3_uc001fzz.2_Silent_p.R286R|NR1I3_uc001gaa.2_Intron|NR1I3_uc001gab.2_Silent_p.R281R|NR1I3_uc001gac.2_Intron NM_001077480 NP_001070948 Q14994 NR1I3_HUMAN constitutive androstane receptor isoform 2 324 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding ovary(1)|skin(1) 2 all_cancers(52;1.86e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) CATTAATGCTCCGGAGCTCAG 0.557 NA 15 44 0 0 0 0 FCGR2A 2212 broad.mit.edu 37 1 161476260 161476260 + Silent SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:161476260C>G uc001gan.2 + 3 296 c.243C>G c.(241-243)CTC>CTG p.L81L FCGR2A_uc001gam.2_Silent_p.L80L|FCGR2A_uc001gao.2_RNA NM_001136219 NP_001129691 P12318 FCG2A_HUMAN Fc fragment of IgG, low affinity IIa, receptor 81 Extracellular (Potential).|Ig-like C2-type 1. integral to membrane|plasma membrane IgG binding|receptor activity ovary(1) 1 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) ATGGGAATCTCATTCCCACCC 0.597 NA 13 75 0 0 0 0 UHMK1 127933 broad.mit.edu 37 1 162470803 162470803 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:162470803C>T uc001gcc.1 + 3 798 c.662C>T c.(661-663)TCA>TTA p.S221L UHMK1_uc001gcb.1_Missense_Mutation_p.S147L|UHMK1_uc009wuu.1_Missense_Mutation_p.S221L NM_175866 NP_787062 Q8TAS1 UHMK1_HUMAN kinase interacting stathmin 221 Protein kinase. cell cycle arrest|neuron projection development|peptidyl-serine phosphorylation|positive regulation of translational initiation|protein autophosphorylation|regulation of protein export from nucleus axon|dendrite cytoplasm|neuronal RNA granule|nucleus protein binding|protein serine/threonine kinase activity|ribonucleoprotein binding|RNA binding 0 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.126) GAATGTACCTCAGCTGTTGAT 0.443 NA 6 39 0 0 0 0 C1orf49 84066 broad.mit.edu 37 1 178491564 178491564 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:178491564G>A uc001glt.1 + 9 803 c.691G>A c.(691-693)GAG>AAG p.E231K C1orf49_uc001glu.1_3'UTR|C1orf49_uc001glv.1_Intron|C1orf49_uc001glw.1_Intron NM_032126 NP_115502 Q5T0J7 CA049_HUMAN hypothetical protein LOC84066 231 microtubule cytoskeleton 0 gtcccagactgagggaaggtg 0.045 NA 5 9 0 0 0 0 DHX9 1660 broad.mit.edu 37 1 182853912 182853912 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:182853912C>T uc001gpr.2 + 27 3588 c.3425C>T c.(3424-3426)TCA>TTA p.S1142L DHX9_uc001gps.2_Missense_Mutation_p.S928L|DHX9_uc001gpt.2_Missense_Mutation_p.S421L|DHX9_uc009wyd.2_Missense_Mutation_p.S107L NM_001357 NP_001348 Q08211 DHX9_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 9 1142 CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding ovary(2) 2 TCTAGACCCTCAGCTGCTGGT 0.448 NA 29 63 0 0 0 0 OCLM 10896 broad.mit.edu 37 1 186370311 186370311 + Nonstop_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:186370311G>C uc001gry.2 + 1 608 c.134G>C c.(133-135)TGA>TCA p.*45S C1orf27_uc001grw.2_Intron|C1orf27_uc010poq.1_Intron|C1orf27_uc010por.1_Intron NM_022375 NP_071770 Q9Y5M6 TISR_HUMAN oculomedin 45 visual perception 0 TTAGTACTTTGAAATTTTTGC 0.289 NA 8 21 0 0 0 0 B3GALT2 8707 broad.mit.edu 37 1 193150249 193150249 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:193150249C>T uc001gtc.3 - 2 1159 c.444G>A c.(442-444)GAG>GAA p.E148E CDC73_uc001gtb.2_Intron NM_003783 NP_003774 O43825 B3GT2_HUMAN UDP-Gal:betaGlcNAc beta 148 Lumenal (Potential). protein glycosylation Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity ovary(1) 1 AAGGACTTTTCTCTTGGCATT 0.368 NA 29 67 0 0 0 0 KDM5B 10765 broad.mit.edu 37 1 202725518 202725518 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:202725518C>G uc001gyf.2 - 10 1440 c.1324G>C c.(1324-1326)GAT>CAT p.D442H KDM5B_uc009xag.2_Missense_Mutation_p.D478H|KDM5B_uc001gyg.1_Missense_Mutation_p.D284H NM_006618 NP_006609 Q9UGL1 KDM5B_HUMAN jumonji, AT rich interactive domain 1B 442 negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(2)|breast(2)|urinary_tract(1) 5 ATTTTCCCATCTCGGACAGGA 0.418 NA 40 92 0 0 0 0 DSTYK 25778 broad.mit.edu 37 1 205138659 205138659 + Missense_Mutation SNP T T C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:205138659T>C uc001hbw.2 - 3 1020 c.956A>G c.(955-957)AAC>AGC p.N319S DSTYK_uc001hbx.2_Missense_Mutation_p.N319S|DSTYK_uc001hby.1_Intron NM_015375 NP_056190 Q6XUX3 DUSTY_HUMAN receptor interacting protein kinase 5 isoform 1 319 cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity lung(1) 1 AGCCCCACAGTTCCAGTGACT 0.498 NA 10 52 0 0 0 0 SLC41A1 254428 broad.mit.edu 37 1 205779420 205779420 + Silent SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:205779420C>G uc001hdh.1 - 2 1022 c.150G>C c.(148-150)GTG>GTC p.V50V NM_173854 NP_776253 Q8IVJ1 S41A1_HUMAN solute carrier family 41 member 1 50 integral to membrane|plasma membrane magnesium ion transmembrane transporter activity skin(2) 2 Breast(84;0.0799) BRCA - Breast invasive adenocarcinoma(75;0.0252) GAGACTCAATCACCACCTCTA 0.642 NA OREG0014163 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 76 0 0 0 0 SYT14 255928 broad.mit.edu 37 1 210334211 210334211 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:210334211G>A uc009xcv.2 + 8 1564 c.1492G>A c.(1492-1494)GAT>AAT p.D498N SYT14_uc001hhs.3_Missense_Mutation_p.D562N|SYT14_uc001hht.3_Missense_Mutation_p.D517N|SYT14_uc001hhu.3_RNA|SYT14_uc010psn.1_Missense_Mutation_p.D543N|SYT14_uc010pso.1_Missense_Mutation_p.D460N|SYT14_uc010psp.1_Missense_Mutation_p.D36N NM_153262 NP_694994 Q8NB59 SYT14_HUMAN synaptotagmin XIV isoform 4 498 Cytoplasmic (Potential).|C2 2. integral to membrane ovary(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(81;0.085) TCAGCTTTCTGATGTGACACT 0.418 NA 18 76 0 0 0 0 SYT14 255928 broad.mit.edu 37 1 210334216 210334216 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:210334216G>A uc009xcv.2 + 8 1569 c.1497G>A c.(1495-1497)GTG>GTA p.V499V SYT14_uc001hhs.3_Silent_p.V563V|SYT14_uc001hht.3_Silent_p.V518V|SYT14_uc001hhu.3_RNA|SYT14_uc010psn.1_Silent_p.V544V|SYT14_uc010pso.1_Silent_p.V461V|SYT14_uc010psp.1_Silent_p.V37V NM_153262 NP_694994 Q8NB59 SYT14_HUMAN synaptotagmin XIV isoform 4 499 Cytoplasmic (Potential).|C2 2. integral to membrane ovary(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(81;0.085) TTTCTGATGTGACACTCATAC 0.418 NA 17 77 0 0 0 0 ESRRG 2104 broad.mit.edu 37 1 216850530 216850530 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:216850530G>A uc001hkw.1 - 2 526 c.360C>T c.(358-360)CTC>CTT p.L120L ESRRG_uc001hky.1_Silent_p.L97L|ESRRG_uc009xdp.1_Silent_p.L97L|ESRRG_uc001hkz.1_Silent_p.L97L|ESRRG_uc010puc.1_Silent_p.L97L|ESRRG_uc001hla.1_Silent_p.L97L|ESRRG_uc001hlb.1_Silent_p.L97L|ESRRG_uc010pud.1_Intron|ESRRG_uc001hlc.1_Silent_p.L97L|ESRRG_uc001hld.1_Silent_p.L97L|ESRRG_uc001hkx.1_Silent_p.L125L|ESRRG_uc009xdo.1_Silent_p.L97L|ESRRG_uc001hle.1_Silent_p.L97L NM_001438 NP_001429 P62508 ERR3_HUMAN estrogen-related receptor gamma isoform 1 120 positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1)|kidney(1) 2 OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713) Diethylstilbestrol(DB00255) GCATCGAGTTGAGCATGTATT 0.502 NA 23 103 0 0 0 0 LYPLAL1 127018 broad.mit.edu 37 1 219384873 219384873 + Nonsense_Mutation SNP C C T rs140122550 TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:219384873C>T uc001hlq.3 + 5 558 c.517C>T c.(517-519)CAG>TAG p.Q173* LYPLAL1_uc001hlr.3_Nonsense_Mutation_p.Q157*|LYPLAL1_uc001hls.3_Nonsense_Mutation_p.Q49*|LYPLAL1_uc001hlt.3_Nonsense_Mutation_p.Q49*|LYPLAL1_uc009xds.2_Nonsense_Mutation_p.Q122* NM_138794 NP_620149 Q5VWZ2 LYPL1_HUMAN lysophospholipase-like 1 173 cytoplasm lysophospholipase activity 0 GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116) TGAATTATTTCAGTGTCATGG 0.353 NA 29 104 0 0 0 0 KIAA1383 54627 broad.mit.edu 37 1 232941206 232941206 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:232941206C>G uc001hvh.2 + 1 569 c.437C>G c.(436-438)TCG>TGG p.S146W NM_019090 NP_061963 Q9P2G4 K1383_HUMAN hypothetical protein LOC54627 4 ovary(1) 1 all_cancers(173;0.00528)|Prostate(94;0.122)|all_epithelial(177;0.169) ATGGCGGCCTCGCTGTCCGAG 0.632 NA 7 14 0 0 0 0 ARID4B 51742 broad.mit.edu 37 1 235345584 235345584 + Nonsense_Mutation SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:235345584C>A uc001hwq.2 - 20 3148 c.2650G>T c.(2650-2652)GAA>TAA p.E884* ARID4B_uc001hwr.2_Nonsense_Mutation_p.E798*|ARID4B_uc001hws.3_Nonsense_Mutation_p.E798*|ARID4B_uc001hwp.2_RNA|ARID4B_uc001hwt.3_Nonsense_Mutation_p.E565* NM_016374 NP_057458 Q4LE39 ARI4B_HUMAN AT rich interactive domain 4B isoform 1 884 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding ovary(2)|lung(1) 3 Ovarian(103;0.0473)|Breast(184;0.23) all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24) OV - Ovarian serous cystadenocarcinoma(106;2.86e-05) TTTCTTTTTTCCTCCAAACCA 0.343 NA 7 101 0.00307968 0.00316034 1 0 MAP1LC3C 440738 broad.mit.edu 37 1 242162283 242162283 + Missense_Mutation SNP C C T rs141733716 by1000genomes TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:242162283C>T uc001hzk.2 - 1 103 c.28G>A c.(28-30)GTC>ATC p.V10I NM_001004343 NP_001004343 Q9BXW4 MLP3C_HUMAN microtubule-associated protein 1 light chain 3 10 autophagy autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule protein binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(106;0.0188) AAGGGTCTGACGCTTGGGATT 0.458 NA OREG0014354 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 61 0 0 0 0 OR2C3 81472 broad.mit.edu 37 1 247694956 247694956 + Silent SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:247694956C>G uc009xgy.2 - 2 1220 c.858G>C c.(856-858)CTG>CTC p.L286L C1orf150_uc009xgw.2_Intron|C1orf150_uc001ida.3_Intron|C1orf150_uc001idb.3_Intron|C1orf150_uc009xgx.2_Intron|LOC148824_uc001idd.2_5'Flank NM_198074 NP_932340 Q8N628 OR2C3_HUMAN olfactory receptor, family 2, subfamily C, 286 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0242) OV - Ovarian serous cystadenocarcinoma(106;0.0241) TAAGTGGGTTCAGCGCAGGAG 0.547 NA 7 93 0 0 0 0 OR2W3 343171 broad.mit.edu 37 1 248059216 248059216 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:248059216G>C uc001idp.1 + 3 597 c.328G>C c.(328-330)GTG>CTG p.V110L OR2W3_uc010pzb.1_Missense_Mutation_p.V110L NM_001001957 NP_001001957 Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, 110 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1)|pancreas(1) 3 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) TCTGGGTGGTGTGGAGTGCCT 0.577 NA 23 60 0 0 0 0 SVIL 6840 broad.mit.edu 37 10 29821937 29821937 + Missense_Mutation SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr10:29821937C>A uc001iut.1 - 8 2112 c.1359G>T c.(1357-1359)AAG>AAT p.K453N SVIL_uc001iuu.1_Intron|SVIL_uc009xld.1_Missense_Mutation_p.K453N NM_021738 NP_068506 O95425 SVIL_HUMAN supervillin isoform 2 453 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) GTAGGGTTTTCTTGCTTTGCT 0.383 NA 25 38 0.00106085 0.00109673 1 0 DNA2 1763 broad.mit.edu 37 10 70231756 70231756 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr10:70231756G>A uc001jof.2 - 1 124 c.124C>T c.(124-126)CAT>TAT p.H42Y DNA2_uc001jog.1_5'Flank|DNA2_uc001joh.1_Intron NM_001080449 NP_001073918 P51530 DNA2L_HUMAN DNA replication helicase 2 homolog Error:Variant_position_missing_in_P51530_after_alignment base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication mitochondrial nucleoid|nucleoplasm 5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base 0 TGTCCCAAATGACCTGCGCCA 0.657 NA 17 20 0 0 0 0 ADAMTS14 140766 broad.mit.edu 37 10 72492036 72492036 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr10:72492036C>T uc001jrh.2 + 7 1129 c.1129C>T c.(1129-1131)CAC>TAC p.H377Y ADAMTS14_uc001jrg.2_Missense_Mutation_p.H380Y|ADAMTS14_uc001jri.1_5'Flank NM_080722 NP_542453 Q8WXS8 ATS14_HUMAN ADAM metallopeptidase with thrombospondin type 1 377 Peptidase M12B. collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.G377D(1) ovary(5)|upper_aerodigestive_tract(1) 6 TGGCATGTGTCACCCCCTGAG 0.597 NA 3 23 0 0 0 0 NRAP 4892 broad.mit.edu 37 10 115368262 115368262 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr10:115368262G>A uc001laj.2 - 32 3777 c.3613C>T c.(3613-3615)CGG>TGG p.R1205W NRAP_uc009xyb.2_Intron|NRAP_uc001lak.2_Missense_Mutation_p.R1170W|NRAP_uc001lal.3_Missense_Mutation_p.R1205W NM_198060 NP_932326 Q86VF7 NRAP_HUMAN nebulin-related anchoring protein isoform S 1205 Nebulin 31. fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1) 10 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) GGATGCTGCCGATATTTACTC 0.438 NA 60 116 0 0 0 0 DPYSL4 10570 broad.mit.edu 37 10 134012379 134012379 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr10:134012379G>A uc009ybb.2 + 8 869 c.715G>A c.(715-717)GCT>ACT p.A239T NM_006426 NP_006417 O14531 DPYL4_HUMAN dihydropyrimidinase-like 4 239 axon guidance|pyrimidine base catabolic process cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides central_nervous_system(2) 2 all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19) OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206) GGTGTACCGAGCTGTCACCAT 0.657 NA 4 41 0 0 0 0 SCUBE2 57758 broad.mit.edu 37 11 9087482 9087482 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr11:9087482G>A uc001mhh.1 - 7 886 c.806C>T c.(805-807)TCA>TTA p.S269L SCUBE2_uc001mhi.1_Missense_Mutation_p.S269L|SCUBE2_uc001mhj.1_Missense_Mutation_p.S269L NM_020974 NP_066025 Q9NQ36 SCUB2_HUMAN CEGP1 protein precursor 269 extracellular region calcium ion binding ovary(1)|skin(1) 2 all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116) ATCCACCACTGATGTGGTGTT 0.522 NA 14 43 0 0 0 0 EIF4G2 1982 broad.mit.edu 37 11 10828424 10828424 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr11:10828424G>C uc001mjc.2 - 3 467 c.50C>G c.(49-51)TCG>TGG p.S17W EIF4G2_uc001mjb.2_5'UTR|EIF4G2_uc009ygf.2_5'UTR|EIF4G2_uc001mjd.2_Missense_Mutation_p.S17W|EIF4G2_uc001mjf.1_5'UTR NM_001418 NP_001409 P78344 IF4G2_HUMAN eukaryotic translation initiation factor 4 17 cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity ovary(1)|central_nervous_system(1) 2 all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) TCCTCCGCCCGAAGAAGCACT 0.358 NA 27 94 0 0 0 0 SPON1 10418 broad.mit.edu 37 11 14280917 14280917 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr11:14280917G>A uc001mle.2 + 13 2122 c.1584G>A c.(1582-1584)GTG>GTA p.V528V NM_006108 NP_006099 Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein 528 TSP type-1 2. cell adhesion extracellular space|proteinaceous extracellular matrix protein binding 0 Epithelial(150;0.00898) AGAGGTATGTGAAGCAGTTCC 0.652 NA 3 13 0 0 0 0 COPB1 1315 broad.mit.edu 37 11 14486569 14486569 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr11:14486569C>T uc001mli.2 - 18 2605 c.2298G>A c.(2296-2298)CTG>CTA p.L766L COPB1_uc001mlg.2_Silent_p.L766L|COPB1_uc001mlh.2_Silent_p.L766L NM_016451 NP_057535 P53618 COPB_HUMAN coatomer protein complex, subunit beta 1 766 COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane protein binding|structural molecule activity ovary(1)|central_nervous_system(1) 2 CCACAAGTTTCAGATCCCCTG 0.274 NA 10 18 0 0 0 0 COPB1 1315 broad.mit.edu 37 11 14507935 14507935 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr11:14507935G>C uc001mli.2 - 7 1122 c.815C>G c.(814-816)TCT>TGT p.S272C COPB1_uc001mlg.2_Missense_Mutation_p.S272C|COPB1_uc001mlh.2_Missense_Mutation_p.S272C NM_016451 NP_057535 P53618 COPB_HUMAN coatomer protein complex, subunit beta 1 272 HEAT 3. COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane protein binding|structural molecule activity ovary(1)|central_nervous_system(1) 2 TGGTGCACTAGAGAGTGTCAC 0.398 NA 12 93 0 0 0 0 SAAL1 113174 broad.mit.edu 37 11 18105261 18105261 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr11:18105261C>T uc001mnq.2 - 10 1110 c.1060G>A c.(1060-1062)GAC>AAC p.D354N SAAL1_uc001mnr.2_Missense_Mutation_p.D353N|SAAL1_uc001mns.2_RNA|SAAL1_uc009yhf.2_Missense_Mutation_p.D356N NM_138421 NP_612430 Q96ER3 SAAL1_HUMAN serum amyloid A-like 1 354 acute-phase response extracellular region binding 0 ATGAGGCTGTCAATTAGAGGA 0.318 NA 4 30 0 0 0 0 CCDC34 91057 broad.mit.edu 37 11 27384432 27384432 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr11:27384432C>G uc001mrh.1 - 1 364 c.310G>C c.(310-312)GAG>CAG p.E104Q CCDC34_uc001mri.1_Missense_Mutation_p.E104Q NM_030771 NP_110398 Q96HJ3 CCD34_HUMAN coiled-coil domain containing 34 isoform 1 104 0 ACTTTGGCCTCTGAATCATGG 0.572 NA 27 81 0 0 0 0 C11orf41 25758 broad.mit.edu 37 11 33566371 33566371 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr11:33566371G>A uc001mup.3 + 2 2083 c.1959G>A c.(1957-1959)CTG>CTA p.L653L C11orf41_uc001mun.1_Silent_p.L653L NM_012194 NP_036326 Q6ZVL6 CK041_HUMAN hypothetical protein LOC25758 647 integral to membrane ovary(2) 2 CATTGTTTCTGAGGAAATCAA 0.512 NA 8 17 0 0 0 0 CAPRIN1 4076 broad.mit.edu 37 11 34107680 34107680 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr11:34107680C>G uc001mvh.1 + 10 1225 c.1036C>G c.(1036-1038)CCA>GCA p.P346A CAPRIN1_uc001mvg.2_Missense_Mutation_p.P346A|CAPRIN1_uc001mvi.2_Missense_Mutation_p.P346A|CAPRIN1_uc001mvj.1_Missense_Mutation_p.P265A NM_005898 NP_005889 Q14444 CAPR1_HUMAN membrane component chromosome 11 surface marker 346 negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule protein binding|RNA binding ovary(1) 1 Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016) CTCTTTGACTCCAGTGGCTCA 0.458 NA 5 48 0 0 0 0 ALKBH3 221120 broad.mit.edu 37 11 43911373 43911373 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr11:43911373G>C uc001mxs.2 + 6 808 c.365G>C c.(364-366)AGA>ACA p.R122T ALKBH3_uc009ykp.2_RNA|ALKBH3_uc001mxt.2_RNA|ALKBH3_uc009ykq.2_5'UTR NM_139178 NP_631917 Q96Q83 ALKB3_HUMAN AlkB homolog 3 122 R->A: Decreases activity towards ssDNA by 25%. Loss of activity towards dsDNA. DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation mitochondrion|nucleoplasm damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 Vitamin C(DB00126) ACTGGCATCAGAGAGGGTAAG 0.478 NA Direct_reversal_of_damage 11 31 0 0 0 0 PRDM11 56981 broad.mit.edu 37 11 45241256 45241256 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr11:45241256G>A uc001myo.2 + 7 1041 c.792G>A c.(790-792)ATG>ATA p.M264I NM_020229 NP_064614 Q9NQV5 PRD11_HUMAN PR domain containing 11 264 SET. upper_aerodigestive_tract(1) 1 AGGACTACATGAAGCGCCTGC 0.637 NA 13 31 0 0 0 0 TNKS1BP1 85456 broad.mit.edu 37 11 57069957 57069957 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr11:57069957G>A uc001njr.2 - 6 4971 c.4659C>T c.(4657-4659)CCC>CCT p.P1553P TNKS1BP1_uc001njp.2_Silent_p.P125P|TNKS1BP1_uc001njq.2_Silent_p.P125P|TNKS1BP1_uc001njs.2_Silent_p.P1553P NM_033396 NP_203754 Q9C0C2 TB182_HUMAN tankyrase 1-binding protein 1 1553 Acidic. nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding skin(1) 1 all_epithelial(135;0.21) AGTCCTGACTGGGGGATCTGG 0.637 NA 5 20 0 0 0 0 FAM111A 63901 broad.mit.edu 37 11 58919875 58919875 + Missense_Mutation SNP A A G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr11:58919875A>G uc010rkp.1 + 5 961 c.734A>G c.(733-735)AAC>AGC p.N245S FAM111A_uc010rkq.1_Missense_Mutation_p.N245S|FAM111A_uc010rkr.1_Missense_Mutation_p.N245S|FAM111A_uc001nno.2_Missense_Mutation_p.N245S|FAM111A_uc001nnp.2_Missense_Mutation_p.N245S|FAM111A_uc001nnq.2_Missense_Mutation_p.N245S NM_001142521 NP_001135993 Q96PZ2 F111A_HUMAN hypothetical protein LOC63901 245 proteolysis serine-type endopeptidase activity ovary(3) 3 all_epithelial(135;0.139) CTCATTGAAAACAATGACACC 0.418 NA 15 73 0 0 0 0 DTX4 23220 broad.mit.edu 37 11 58972245 58972245 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr11:58972245G>A uc001nns.2 + 9 1980 c.1723G>A c.(1723-1725)GAG>AAG p.E575K DTX4_uc001nnr.2_Missense_Mutation_p.E469K NM_015177 NP_055992 Q9Y2E6 DTX4_HUMAN deltex 4 homolog 575 Notch signaling pathway cytoplasm zinc ion binding lung(2)|central_nervous_system(1) 3 all_epithelial(135;0.125) CATCTGGAATGAGGTCCACCA 0.562 NA 4 18 0 0 0 0 OR4D9 390199 broad.mit.edu 37 11 59283051 59283051 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr11:59283051G>C uc010rkv.1 + 1 666 c.666G>C c.(664-666)TTG>TTC p.L222F NM_001004711 NP_001004711 Q8NGE8 OR4D9_HUMAN olfactory receptor, family 4, subfamily D, 222 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CGGTCATCTTGATGATGCTGA 0.498 NA 27 156 0 0 0 0 C11orf9 745 broad.mit.edu 37 11 61548770 61548770 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr11:61548770C>T uc001nsc.1 + 21 2829 c.2733C>T c.(2731-2733)AGC>AGT p.S911S C11orf9_uc001nse.1_Silent_p.S876S|C11orf9_uc010rll.1_Silent_p.S302S NM_001127392 NP_001120864 Q9Y2G1 MRF_HUMAN myelin gene regulatory factor isoform 2 911 central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent integral to membrane|nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1) 1 atgttctcagcccaagtccca 0.353 NA 18 47 0 0 0 0 LGALS12 85329 broad.mit.edu 37 11 63283183 63283183 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr11:63283183G>A uc001nxa.2 + 8 1203 c.862G>A c.(862-864)GAG>AAG p.E288K LGALS12_uc001nxb.2_Missense_Mutation_p.E279K|LGALS12_uc001nxc.2_Missense_Mutation_p.E289K|LGALS12_uc001nxd.2_Missense_Mutation_p.E227K|LGALS12_uc001nxe.2_Missense_Mutation_p.E218K|LGALS12_uc009yot.2_Missense_Mutation_p.E248K NM_033101 NP_149092 Q96DT0 LEG12_HUMAN lectin, galactoside-binding, soluble, 12 isoform 288 Galectin 2. apoptosis|induction of apoptosis by intracellular signals nucleus lactose binding ovary(2) 2 GAGATTCTTTGAGGTAGGTCA 0.557 NA 11 37 0 0 0 0 C11orf84 144097 broad.mit.edu 37 11 63581231 63581231 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr11:63581231G>A uc001nxt.2 + 1 309 c.73G>A c.(73-75)GAG>AAG p.E25K NM_138471 NP_612480 Q9BUA3 CK084_HUMAN hypothetical protein LOC144097 25 0 AGGGGAGGACGAGGAGGAGGC 0.677 NA 9 29 0 0 0 0 FERMT3 83706 broad.mit.edu 37 11 63990903 63990903 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr11:63990903G>A uc001nyl.2 + 15 2092 c.1943G>A c.(1942-1944)CGT>CAT p.R648H FERMT3_uc001nym.2_Missense_Mutation_p.R644H|NUDT22_uc009ypd.2_5'Flank|NUDT22_uc001nyp.3_5'Flank|NUDT22_uc009ype.2_5'Flank|NUDT22_uc001nyq.3_5'Flank NM_178443 NP_848537 Q86UX7 URP2_HUMAN fermitin family homolog 3 long form 648 integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin cell junction|cell projection|podosome integrin binding ovary(1) 1 GAGCGGGCCCGTGGGGAGGAG 0.612 NA 8 42 0 0 0 0 ESRRA 2101 broad.mit.edu 37 11 64082296 64082296 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr11:64082296G>A uc001nzq.1 + 5 832 c.655G>A c.(655-657)GAT>AAT p.D219N ESRRA_uc001nzr.1_Missense_Mutation_p.D218N|ESRRA_uc001nzs.1_Missense_Mutation_p.D219N|ESRRA_uc009ypn.1_Intron NM_004451 NP_004442 P11474 ERR1_HUMAN estrogen-related receptor alpha 219 Ligand binding domain. positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein domain specific binding|sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding 0 CGCAGGCCCTGATGGGCACCT 0.587 NA 17 50 0 0 0 0 AIP 9049 broad.mit.edu 37 11 67254633 67254633 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr11:67254633G>C uc001olv.2 + 2 381 c.256G>C c.(256-258)GCC>CCC p.A86P NM_003977 NP_003968 O00170 AIP_HUMAN aryl hydrocarbon receptor interacting protein 86 PPIase FKBP-type. protein maturation by protein folding|protein targeting to mitochondrion nucleus signal transducer activity|transcription coactivator activity|transcription factor binding|unfolded protein binding 0 AGGGGAGATTGCCCAGTTCCT 0.582 NA Familial_Isolated_Pituitary_Adenoma_ 11 129 0 0 0 0 ARAP1 116985 broad.mit.edu 37 11 72409008 72409008 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr11:72409008G>A uc001osu.2 - 19 2874 c.2685C>T c.(2683-2685)TTC>TTT p.F895F ARAP1_uc001osv.2_Silent_p.F895F|ARAP1_uc001osr.2_Silent_p.F655F|ARAP1_uc001oss.2_Silent_p.F650F|ARAP1_uc009yth.2_Silent_p.F589F|ARAP1_uc010rre.1_Silent_p.F650F|ARAP1_uc001osw.1_Silent_p.F183F NM_001040118 NP_001035207 Q96P48 ARAP1_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH 895 actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction cytosol|Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding skin(1) 1 GCCCCTCCGGGAAGACAGCAC 0.657 NA 3 21 0 0 0 0 RNF169 254225 broad.mit.edu 37 11 74546869 74546869 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr11:74546869C>G uc001ovl.3 + 6 1234 c.1221C>G c.(1219-1221)ATC>ATG p.I407M XRRA1_uc001ovm.2_Intron NM_001098638 NP_001092108 Q8NCN4 RN169_HUMAN ring finger protein 169 407 zinc ion binding ovary(1) 1 CTCTCATCATCAAATCAACTC 0.493 NA 38 120 0 0 0 0 PRKRIR 5612 broad.mit.edu 37 11 76062393 76062393 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr11:76062393C>T uc001oxh.1 - 5 1801 c.1801G>A c.(1801-1803)GCT>ACT p.A601T PRKRIR_uc010rrz.1_Missense_Mutation_p.A426T NM_004705 NP_004696 O43422 P52K_HUMAN protein-kinase, interferon-inducible double 601 negative regulation of cell proliferation|response to stress|signal transduction DNA binding|metal ion binding|protein dimerization activity ovary(2)|pancreas(1) 3 CATTTAAGAGCTTTGAGGTGC 0.413 NA 37 89 0 0 0 0 MYO7A 4647 broad.mit.edu 37 11 76873901 76873901 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr11:76873901C>T uc001oyb.2 + 14 1829 c.1557C>T c.(1555-1557)GGC>GGT p.G519G MYO7A_uc010rsl.1_Silent_p.G519G|MYO7A_uc010rsm.1_Silent_p.G508G|MYO7A_uc001oyc.2_Silent_p.G519G NM_000260 NP_000251 Q13402 MYO7A_HUMAN myosin VIIA isoform 1 519 Myosin head-like. G -> D (in USH1B; the deleterious effect remains to be proven). actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(3)|breast(1) 4 CTCCCCAGGGCACAGACACCA 0.597 NA 38 87 0 0 0 0 USP35 57558 broad.mit.edu 37 11 77920693 77920693 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr11:77920693C>G uc009yva.1 + 10 2038 c.1792C>G c.(1792-1794)CTC>GTC p.L598V USP35_uc001oze.2_Missense_Mutation_p.L354V|USP35_uc001ozc.2_Missense_Mutation_p.L166V|USP35_uc010rsp.1_Missense_Mutation_p.L30V|USP35_uc001ozd.2_Missense_Mutation_p.L209V|USP35_uc001ozf.2_Missense_Mutation_p.L329V NM_020798 NP_065849 Q9P2H5 UBP35_HUMAN ubiquitin specific protease 35 598 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity lung(2)|ovary(1) 3 all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.04e-25) GGACCTCTCTCTCGCCTTCCC 0.622 NA 10 132 0 0 0 0 ZC3H12C 85463 broad.mit.edu 37 11 110023720 110023720 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr11:110023720G>C uc009yxw.2 + 3 901 c.850G>C c.(850-852)GAC>CAC p.D284H ZC3H12C_uc010rwc.1_Missense_Mutation_p.D285H|ZC3H12C_uc010rwd.1_Missense_Mutation_p.D285H|ZC3H12C_uc001pkr.3_Missense_Mutation_p.D253H|ZC3H12C_uc001pkq.2_Missense_Mutation_p.D253H NM_033390 NP_203748 Q9C0D7 ZC12C_HUMAN zinc finger CCCH-type containing 12C 284 endonuclease activity|nucleic acid binding|zinc ion binding 0 all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279) AGGCCACAAAGACATTACAGT 0.428 NA 3 7 0 0 0 0 IL10RA 3587 broad.mit.edu 37 11 117860224 117860224 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr11:117860224G>A uc001prv.2 + 3 333 c.256G>A c.(256-258)GTG>ATG p.V86M IL10RA_uc010rxl.1_Missense_Mutation_p.V66M|IL10RA_uc010rxm.1_Missense_Mutation_p.V66M|IL10RA_uc010rxn.1_Intron|IL10RA_uc001prw.2_Translation_Start_Site NM_001558 NP_001549 Q13651 I10R1_HUMAN interleukin 10 receptor, alpha precursor 86 Extracellular (Potential). integral to membrane|plasma membrane interleukin-10 receptor activity ovary(1) 1 all_hematologic(175;0.0487) Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108) CCTTACCGCAGTGACCTTGGA 0.577 NA 28 37 0 0 0 0 ARCN1 372 broad.mit.edu 37 11 118453900 118453900 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr11:118453900G>A uc001ptq.2 + 3 435 c.274G>A c.(274-276)GAA>AAA p.E92K ARCN1_uc009zah.2_Intron|ARCN1_uc010ryg.1_Missense_Mutation_p.E4K|ARCN1_uc009zag.2_Missense_Mutation_p.E133K NM_001655 NP_001646 P48444 COPD_HUMAN archain isoform 1 92 COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER clathrin adaptor complex|COPI vesicle coat|cytosol 0 all_hematologic(175;0.0349) Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.28e-05) TTAGATCCCTGAATATTGCCG 0.348 NA 35 53 0 0 0 0 OR10G4 390264 broad.mit.edu 37 11 123886938 123886938 + Silent SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr11:123886938C>A uc010sac.1 + 1 657 c.657C>A c.(655-657)TCC>TCA p.S219S NM_001004462 NP_001004462 Q8NGN3 O10G4_HUMAN olfactory receptor, family 10, subfamily G, 219 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 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;0.0401) CCTATGTGTCCATCGTCTGTT 0.542 NA 36 60 5.83e-16 6.33e-16 1 0 TMEM45B 120224 broad.mit.edu 37 11 129724648 129724648 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr11:129724648C>G uc001qfe.1 + 3 383 c.322C>G c.(322-324)CTG>GTG p.L108V TMEM45B_uc001qff.1_Missense_Mutation_p.L108V NM_138788 NP_620143 Q96B21 TM45B_HUMAN transmembrane protein 45B 108 Helical; (Potential). integral to membrane 0 all_hematologic(175;0.0537) Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189) GCTCACCTATCTGGTCAGCCA 0.483 NA 29 40 0 0 0 0 B4GALNT3 283358 broad.mit.edu 37 12 662840 662840 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:662840G>A uc001qii.1 + 14 1751 c.1751G>A c.(1750-1752)GGA>GAA p.G584E B4GALNT3_uc001qij.1_Missense_Mutation_p.G487E|B4GALNT3_uc001qik.1_Missense_Mutation_p.G133E NM_173593 NP_775864 Q6L9W6 B4GN3_HUMAN beta 584 Lumenal (Potential). Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity ovary(1)|skin(1) 2 all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215) OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262) CAGGCCCCTGGAAGGGGCTGG 0.517 NA 9 36 0 0 0 0 AKAP3 10566 broad.mit.edu 37 12 4736776 4736776 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:4736776C>G uc001qnb.3 - 4 1521 c.1292G>C c.(1291-1293)AGA>ACA p.R431T NM_006422 NP_006413 O75969 AKAP3_HUMAN A-kinase anchor protein 3 431 acrosome reaction|cellular component movement acrosomal vesicle protein kinase A binding skin(3)|large_intestine(1)|ovary(1)|kidney(1) 6 CATTTTTTCTCTCAATTTAGT 0.408 NA 21 108 0 0 0 0 LTBR 4055 broad.mit.edu 37 12 6499994 6499994 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:6499994C>G uc001qny.1 + 10 1367 c.1199C>G c.(1198-1200)TCT>TGT p.S400C LTBR_uc010sfc.1_Missense_Mutation_p.S381C|LTBR_uc001qnz.1_Missense_Mutation_p.S395C NM_002342 NP_002333 P36941 TNR3_HUMAN lymphotoxin beta receptor precursor 400 Cytoplasmic (Potential). apoptosis|cellular response to mechanical stimulus|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane protein binding|receptor activity lung(2) 2 CCCGGGCTCTCTACACCCCAC 0.632 NA 56 123 0 0 0 0 C12orf57 113246 broad.mit.edu 37 12 7054986 7054986 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:7054986G>A uc001qrz.2 + 3 364 c.282G>A c.(280-282)GAG>GAA p.E94E PTPN6_uc001qsa.1_5'Flank|PTPN6_uc010sfr.1_5'Flank NM_138425 NP_612434 Q99622 C10_HUMAN C10 protein 94 0 AGGATCCTGAGATCGCCAGCC 0.617 NA 8 26 0 0 0 0 C1RL 51279 broad.mit.edu 37 12 7260991 7260991 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:7260991C>T uc001qsn.2 - 2 173 c.156G>A c.(154-156)CTG>CTA p.L52L C1RL_uc009zft.2_Silent_p.L52L|C1RL_uc001qso.1_Silent_p.L52L|LOC283314_uc001qsp.2_RNA|LOC283314_uc010sgb.1_5'Flank NM_016546 NP_057630 Q9NZP8 C1RL_HUMAN complement component 1, r subcomponent-like 52 CUB. complement activation, classical pathway|innate immune response|proteolysis serine-type endopeptidase activity pancreas(1) 1 CGGGGGATGTCAGCTGCTGGG 0.632 NA 18 55 0 0 0 0 KLRC3 3823 broad.mit.edu 37 12 10570960 10570960 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:10570960C>G uc001qyf.2 - 4 514 c.469G>C c.(469-471)GAT>CAT p.D157H KLRC3_uc001qyh.2_Missense_Mutation_p.D157H|KLRC3_uc001qyi.1_Missense_Mutation_p.D157H|KLRC3_uc010shc.1_Nonstop_Mutation_p.*140Y|KLRC3_uc010shd.1_3'UTR NM_002261 NP_002252 Q07444 NKG2E_HUMAN killer cell lectin-like receptor subfamily C, 157 C-type lectin.|Extracellular (Potential). cellular defense response integral to membrane sugar binding|transmembrane receptor activity ovary(2)|skin(1) 3 TCTTCATTATCTATACAAAGC 0.323 NA 29 84 0 0 0 0 C12orf69 440087 broad.mit.edu 37 12 14959195 14959195 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:14959195G>A uc001rck.1 - 2 493 c.420C>T c.(418-420)GTC>GTT p.V140V WBP11_uc001rci.2_5'Flank|C12orf60_uc001rcj.3_Intron NM_001013698 NP_001013720 A2RU48 CL069_HUMAN hypothetical protein LOC440087 140 integral to membrane 0 TGCCAGTTGTGACATTTGAGC 0.438 NA 5 110 0 0 0 0 PDE3A 5139 broad.mit.edu 37 12 20799804 20799804 + Missense_Mutation SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:20799804C>A uc001reh.1 + 12 2507 c.2485C>A c.(2485-2487)CTG>ATG p.L829M NM_000921 NP_000912 Q14432 PDE3A_HUMAN phosphodiesterase 3A 829 Catalytic (By similarity). lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding ovary(3)|upper_aerodigestive_tract(1) 4 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) GTTGATGGCGCTGTATGTGGC 0.428 NA 33 126 1.63e-12 1.75e-12 1 0 SLCO1B1 10599 broad.mit.edu 37 12 21358889 21358889 + Silent SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:21358889C>G uc001req.3 + 11 1523 c.1419C>G c.(1417-1419)GTC>GTG p.V473V NM_006446 NP_006437 Q9Y6L6 SO1B1_HUMAN solute carrier organic anion transporter family, 473 Extracellular (Potential).|Kazal-like. bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|integral to plasma membrane|membrane fraction bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1) 8 Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175) GGGAACCAGTCTGTGGAAACA 0.368 NA 11 82 0 0 0 0 SSPN 8082 broad.mit.edu 37 12 26377309 26377309 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:26377309G>C uc001rhe.2 + 2 463 c.363G>C c.(361-363)ATG>ATC p.M121I SSPN_uc001rhd.2_Missense_Mutation_p.M18I|SSPN_uc009zjf.2_Missense_Mutation_p.M121I|SSPN_uc001rhf.3_Intron NM_005086 NP_005077 Q14714 SSPN_HUMAN sarcospan isoform 1 121 Cytoplasmic (Potential). cell adhesion|muscle contraction cell junction|dystrophin-associated glycoprotein complex|integral to plasma membrane|postsynaptic membrane|sarcolemma|transport vesicle 0 Colorectal(261;0.0847) AATTTTCTATGAAAGTAAGTT 0.373 NA 45 152 0 0 0 0 PPFIBP1 8496 broad.mit.edu 37 12 27834486 27834486 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:27834486G>C uc001ric.1 + 21 2298 c.1921G>C c.(1921-1923)GAT>CAT p.D641H PPFIBP1_uc010sjr.1_Missense_Mutation_p.D472H|PPFIBP1_uc001rib.1_Missense_Mutation_p.D635H|PPFIBP1_uc001ria.2_Missense_Mutation_p.D610H|PPFIBP1_uc001rid.1_Missense_Mutation_p.D488H|PPFIBP1_uc001rif.1_Missense_Mutation_p.D148H NM_003622 NP_003613 Q86W92 LIPB1_HUMAN PTPRF interacting protein binding protein 1 641 cell adhesion plasma membrane protein binding PPFIBP1/ALK(3) soft_tissue(3)|kidney(1)|skin(1) 5 Lung SC(9;0.0873) TAGTGACTTGGATATGCCATT 0.418 NA 11 103 0 0 0 0 OVCH1 341350 broad.mit.edu 37 12 29649538 29649538 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:29649538G>C uc001rix.1 - 2 134 c.134C>G c.(133-135)TCT>TGT p.S45C NM_183378 NP_899234 Q7RTY7 OVCH1_HUMAN ovochymase 1 precursor 45 Peptidase S1 1. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1) 10 Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155) ACTAATTCTAGAGAAGAATCT 0.413 NA 40 90 0 0 0 0 C12orf35 55196 broad.mit.edu 37 12 32135670 32135670 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:32135670C>G uc001rks.2 + 4 2195 c.1781C>G c.(1780-1782)ACT>AGT p.T594S NM_018169 NP_060639 Q9HCM1 CL035_HUMAN hypothetical protein LOC55196 594 ovary(1)|skin(1) 2 all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0114) GCACGTAAGACTCAGAAGACA 0.358 NA 11 16 0 0 0 0 ARID2 196528 broad.mit.edu 37 12 46231439 46231439 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:46231439G>A uc001ros.1 + 10 1279 c.1279G>A c.(1279-1281)GAA>AAA p.E427K ARID2_uc001ror.2_Missense_Mutation_p.E427K|ARID2_uc009zkg.1_5'UTR|ARID2_uc009zkh.1_Missense_Mutation_p.E73K|ARID2_uc001rot.1_Missense_Mutation_p.E73K NM_152641 NP_689854 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 427 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(6)|skin(3)|upper_aerodigestive_tract(1) 10 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) CATGCTCACGGAAATGGGAGA 0.378 NA 18 39 0 0 0 0 RAPGEF3 10411 broad.mit.edu 37 12 48143273 48143273 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:48143273G>A uc009zkp.2 - 9 1255 c.815C>T c.(814-816)GCT>GTT p.A272V RAPGEF3_uc010sln.1_5'Flank|RAPGEF3_uc001rpy.2_5'Flank|RAPGEF3_uc009zkq.2_Missense_Mutation_p.A272V|RAPGEF3_uc001rpz.3_Missense_Mutation_p.A314V|RAPGEF3_uc001rqa.2_5'Flank|RAPGEF3_uc009zkr.2_RNA|RAPGEF3_uc009zks.2_Missense_Mutation_p.A326V|RAPGEF3_uc001rqb.3_Missense_Mutation_p.A314V NM_001098532 NP_001092002 A8K2G5 A8K2G5_HUMAN Rap guanine nucleotide exchange factor 3 isoform 272 regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity lung(2)|skin(1)|pancreas(1) 4 Lung SC(27;0.192) GBM - Glioblastoma multiforme(48;0.0375) ATTCACCAGAGCCAGCTGTCC 0.498 NA 9 62 0 0 0 0 OR8S1 341568 broad.mit.edu 37 12 48920205 48920205 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:48920205C>T uc010slu.1 + 1 791 c.791C>T c.(790-792)TCA>TTA p.S264L NM_001005203 NP_001005203 Q8NH09 OR8S1_HUMAN olfactory receptor, family 8, subfamily S, 264 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 ATGCCAAACTCAGGTTCCCCC 0.498 NA 24 72 0 0 0 0 CCNT1 904 broad.mit.edu 37 12 49088089 49088089 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:49088089G>A uc001rse.1 - 9 1231 c.908C>T c.(907-909)TCA>TTA p.S303L LOC144438_uc001rsd.3_5'Flank|CCNT1_uc009zkz.1_Missense_Mutation_p.S18L NM_001240 NP_001231 O60563 CCNT1_HUMAN cyclin T1 303 cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm DNA binding|protein kinase binding ovary(3)|lung(1)|breast(1)|skin(1) 6 GGTAGAAGTTGACATGCTCAT 0.493 NA 31 61 0 0 0 0 FKBP11 51303 broad.mit.edu 37 12 49315828 49315828 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:49315828C>G uc001rsp.2 - 6 664 c.545G>C c.(544-546)AGA>ACA p.R182T FKBP11_uc010sma.1_Missense_Mutation_p.R80T|FKBP11_uc001rsq.3_3'UTR NM_016594 NP_057678 Q9NYL4 FKB11_HUMAN FK506 binding protein 11 isoform 1 precursor 182 protein folding integral to membrane FK506 binding|peptidyl-prolyl cis-trans isomerase activity 0 GACTTTGGGTCTATTGGCCTT 0.408 NA 7 104 0 0 0 0 PRPF40B 25766 broad.mit.edu 37 12 50035744 50035744 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:50035744C>T uc001rur.1 + 18 1819 c.1755C>T c.(1753-1755)GTC>GTT p.V585V FMNL3_uc001ruv.1_3'UTR|FMNL3_uc001ruw.1_3'UTR|PRPF40B_uc001rup.1_Silent_p.V607V|PRPF40B_uc001ruq.1_Silent_p.V572V|PRPF40B_uc001rus.1_Silent_p.V528V|FMNL3_uc001rut.1_3'UTR|FMNL3_uc001ruu.1_3'UTR NM_001031698 NP_001026868 Q6NWY9 PR40B_HUMAN Huntingtin interacting protein C isoform 1 585 mRNA processing|RNA splicing nuclear speck skin(2)|ovary(1)|pancreas(1)|kidney(1) 5 TCGCCCACGTCATAAGCTTTG 0.597 NA 31 78 0 0 0 0 KRT5 3852 broad.mit.edu 37 12 52910942 52910942 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:52910942C>G uc001san.2 - 6 1330 c.1167G>C c.(1165-1167)ATG>ATC p.M389I KRT5_uc009zmh.2_Missense_Mutation_p.M389I NM_000424 NP_000415 P13647 K2C5_HUMAN keratin 5 389 Rod.|Coil 2. epidermis development|hemidesmosome assembly cytosol|keratin filament protein binding|structural constituent of cytoskeleton 0 BRCA - Breast invasive adenocarcinoma(357;0.189) TCATCCGGTTCATCTCAGAGA 0.522 NA 26 99 0 0 0 0 OR6C6 283365 broad.mit.edu 37 12 55688558 55688558 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:55688558G>A uc010sph.1 - 1 459 c.459C>T c.(457-459)ATC>ATT p.I153I NM_001005493 NP_001005493 A6NF89 OR6C6_HUMAN olfactory receptor, family 6, subfamily C, 153 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|skin(1) 2 GGGGAAATATGATTAAGAATC 0.418 NA 8 49 0 0 0 0 STAT2 6773 broad.mit.edu 37 12 56740694 56740694 + Silent SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:56740694C>A uc001slc.2 - 20 1848 c.1770G>T c.(1768-1770)CTG>CTT p.L590L STAT2_uc001slb.2_Silent_p.L132L|STAT2_uc001sld.2_Silent_p.L586L NM_005419 NP_005410 P52630 STAT2_HUMAN signal transducer and activator of transcription 590 SH2. interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway cytosol|nucleoplasm|plasma membrane calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(1)|lung(1)|kidney(1) 3 TGGTCTTCTTCAGCAGCCGGC 0.607 NA 21 95 6.33e-15 6.86e-15 1 0 NACA 4666 broad.mit.edu 37 12 57106570 57106570 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:57106570C>T uc001slz.2 - 7 982 c.633G>A c.(631-633)ATG>ATA p.M211I NACA_uc001sly.2_Missense_Mutation_p.M211I|NACA_uc009zoy.1_Missense_Mutation_p.M2074I|NACA_uc001smc.2_Missense_Mutation_p.M211I|NACA_uc001sma.2_Missense_Mutation_p.M921I|NACA_uc001smb.2_Missense_Mutation_p.M211I|NACA_uc010squ.1_RNA NM_001113201 NP_001106672 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha 211 UBA. interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding ovary(1) 1 GAACACTTACCATAATCGCAT 0.403 NA T BCL6 NHL 17 79 0 0 0 0 NACA 4666 broad.mit.edu 37 12 57106606 57106606 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:57106606C>T uc001slz.2 - 7 946 c.597G>A c.(595-597)CTG>CTA p.L199L NACA_uc001sly.2_Silent_p.L199L|NACA_uc009zoy.1_Silent_p.L2062L|NACA_uc001smc.2_Silent_p.L199L|NACA_uc001sma.2_Silent_p.L909L|NACA_uc001smb.2_Silent_p.L199L|NACA_uc010squ.1_RNA NM_001113201 NP_001106672 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha 199 UBA. interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding ovary(1) 1 TGTTGTTCTTCAGGGCTCGGA 0.423 NA T BCL6 NHL 15 84 0 0 0 0 NACA 4666 broad.mit.edu 37 12 57106659 57106659 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:57106659C>G uc001slz.2 - 7 893 c.544G>C c.(544-546)GAA>CAA p.E182Q NACA_uc001sly.2_Missense_Mutation_p.E182Q|NACA_uc009zoy.1_Missense_Mutation_p.E2045Q|NACA_uc001smc.2_Missense_Mutation_p.E182Q|NACA_uc001sma.2_Missense_Mutation_p.E892Q|NACA_uc001smb.2_Missense_Mutation_p.E182Q|NACA_uc010squ.1_RNA NM_001113201 NP_001106672 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha 182 UBA. interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding ovary(1) 1 ATGACCAATTCAATGTCCTTA 0.403 NA T BCL6 NHL 10 91 0 0 0 0 NACA 4666 broad.mit.edu 37 12 57106861 57106861 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:57106861C>G uc001slz.2 - 6 844 c.495G>C c.(493-495)GAG>GAC p.E165D NACA_uc001sly.2_Missense_Mutation_p.E165D|NACA_uc009zoy.1_Missense_Mutation_p.E2028D|NACA_uc001smc.2_Missense_Mutation_p.E165D|NACA_uc001sma.2_Missense_Mutation_p.E875D|NACA_uc001smb.2_Missense_Mutation_p.E165D|NACA_uc010squ.1_RNA NM_001113201 NP_001106672 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha 165 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding ovary(1) 1 CCTCTTCACTCTCCTCTTGTA 0.403 NA T BCL6 NHL 7 41 0 0 0 0 NACA 4666 broad.mit.edu 37 12 57108149 57108149 + Silent SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:57108149C>A uc001slz.2 - 4 580 c.231G>T c.(229-231)CGG>CGT p.R77R NACA_uc001sly.2_Silent_p.R77R|NACA_uc009zoy.1_Silent_p.R1940R|NACA_uc001smc.2_Silent_p.R77R|NACA_uc001sma.2_Silent_p.R787R|NACA_uc001smb.2_Silent_p.R77R|NACA_uc010squ.1_Intron NM_001113201 NP_001106672 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha 77 Required for DNA-binding (By similarity).|NAC-A/B. interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding ovary(1) 1 ATCTTACCTTCCGTGCCTTCT 0.328 NA T BCL6 NHL 10 47 4.69e-08 5e-08 1 0 NAB2 4665 broad.mit.edu 37 12 57484986 57484986 + Silent SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:57484986C>A uc001smz.2 + 2 540 c.162C>A c.(160-162)CTC>CTA p.L54L NM_005967 NP_005958 Q15742 NAB2_HUMAN NGFI-A binding protein 2 54 NCD1. cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent nucleus transcription corepressor activity upper_aerodigestive_tract(1)|ovary(1) 2 GCGCCAACCTCCTTTCCTACT 0.632 NA 25 102 7.88e-20 8.6e-20 1 0 GLI1 2735 broad.mit.edu 37 12 57857788 57857788 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:57857788C>G uc001snx.2 + 3 185 c.107C>G c.(106-108)TCT>TGT p.S36C GLI1_uc009zpp.2_RNA|GLI1_uc009zpq.2_Intron|GLI1_uc009zpr.1_Intron NM_005269 NP_005260 P08151 GLI1_HUMAN GLI family zinc finger 1 isoform 1 36 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) CTAGGACTGTCTGGCCCGCCC 0.552 NA 42 204 0 0 0 0 OS9 10956 broad.mit.edu 37 12 58112070 58112070 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:58112070G>C uc001spj.2 + 11 1335 c.1276G>C c.(1276-1278)GAT>CAT p.D426H OS9_uc010srx.1_Missense_Mutation_p.D220H|OS9_uc001spk.2_Missense_Mutation_p.D426H|OS9_uc001spl.2_Missense_Mutation_p.D426H|OS9_uc001spm.2_Missense_Mutation_p.D426H|OS9_uc001spn.2_Missense_Mutation_p.D427H|OS9_uc010sry.1_Missense_Mutation_p.D394H|OS9_uc010srz.1_Missense_Mutation_p.D367H NM_006812 NP_006803 Q13438 OS9_HUMAN osteosarcoma amplified 9, endoplasmic reticulum 426 Asp/Glu-rich (acidic). ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex glycoprotein binding|protein binding|sugar binding ovary(1) 1 all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122) BRCA - Breast invasive adenocarcinoma(9;0.109) tgaggatgaagatgaggatga 0.408 NA 6 74 0 0 0 0 BEST3 144453 broad.mit.edu 37 12 70049339 70049339 + Missense_Mutation SNP T T A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:70049339T>A uc001svg.2 - 10 1582 c.1355A>T c.(1354-1356)AAA>ATA p.K452I BEST3_uc001svd.1_Intron|BEST3_uc001sve.1_Intron|BEST3_uc001svf.2_Missense_Mutation_p.K239I|BEST3_uc010stm.1_Missense_Mutation_p.K346I NM_032735 NP_116124 Q8N1M1 BEST3_HUMAN vitelliform macular dystrophy 2-like 3 isoform 452 Cytoplasmic (Potential). chloride channel complex|plasma membrane chloride channel activity 0 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) GAAGCAGGATTTCTTCCAGGT 0.592 NA 5 108 0 0 0 0 BEST3 144453 broad.mit.edu 37 12 70049452 70049452 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:70049452C>G uc001svg.2 - 10 1469 c.1242G>C c.(1240-1242)AGG>AGC p.R414S BEST3_uc001svd.1_Intron|BEST3_uc001sve.1_Intron|BEST3_uc001svf.2_Missense_Mutation_p.R201S|BEST3_uc010stm.1_Missense_Mutation_p.R308S NM_032735 NP_116124 Q8N1M1 BEST3_HUMAN vitelliform macular dystrophy 2-like 3 isoform 414 Cytoplasmic (Potential). chloride channel complex|plasma membrane chloride channel activity 0 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) TTGTCTGCCTCCTGTAGCTTC 0.562 NA 25 114 0 0 0 0 LRRIQ1 84125 broad.mit.edu 37 12 85450679 85450679 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:85450679C>G uc001tac.2 + 8 2219 c.2108C>G c.(2107-2109)TCT>TGT p.S703C LRRIQ1_uc001tab.1_Missense_Mutation_p.S703C|LRRIQ1_uc001taa.1_Missense_Mutation_p.S678C NM_001079910 NP_001073379 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 703 ovary(4)|central_nervous_system(1)|skin(1) 6 GBM - Glioblastoma multiforme(134;0.212) GAAGTCAACTCTCTTAAATCT 0.373 NA 46 119 0 0 0 0 LRRIQ1 84125 broad.mit.edu 37 12 85500377 85500377 + Nonsense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:85500377C>T uc001tac.2 + 15 3472 c.3361C>T c.(3361-3363)CAA>TAA p.Q1121* LRRIQ1_uc001tab.1_Nonsense_Mutation_p.Q1121* NM_001079910 NP_001073379 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 1121 LRRCT. ovary(4)|central_nervous_system(1)|skin(1) 6 GBM - Glioblastoma multiforme(134;0.212) CCCACTTCTTCAAGAAACAAA 0.333 NA 11 61 0 0 0 0 EPYC 1833 broad.mit.edu 37 12 91358091 91358091 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:91358091G>A uc001tbk.2 - 7 904 c.811C>T c.(811-813)CTG>TTG p.L271L NM_004950 NP_004941 Q99645 EPYC_HUMAN dermatan sulfate proteoglycan 3 precursor 271 LRR 5. female pregnancy proteinaceous extracellular matrix glycosaminoglycan binding skin(1) 1 TGCATTTCCAGAATGTTGTTA 0.338 NA 5 22 0 0 0 0 PLEKHG7 440107 broad.mit.edu 37 12 93163911 93163911 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:93163911G>C uc001tcj.2 + 12 1310 c.1080G>C c.(1078-1080)AAG>AAC p.K360N NM_001004330 NP_001004330 Q6ZR37 PKHG7_HUMAN pleckstrin homology domain containing, family G 360 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity ovary(1) 1 GCTTTACCAAGAGTCAGGAAA 0.333 NA 14 37 0 0 0 0 NUP37 79023 broad.mit.edu 37 12 102471251 102471251 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:102471251G>A uc001tjc.2 - 6 636 c.571C>T c.(571-573)CGG>TGG p.R191W NUP37_uc009zub.1_Missense_Mutation_p.R191W NM_024057 NP_076962 Q8NFH4 NUP37_HUMAN nucleoporin 37kDa 191 WD 3. carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex protein binding ovary(1) 1 TCATAAAACCGGATTGTTCCA 0.368 NA 20 62 0 0 0 0 STAB2 55576 broad.mit.edu 37 12 104129353 104129353 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:104129353G>A uc001tjw.2 + 52 5731 c.5545G>A c.(5545-5547)GAC>AAC p.D1849N STAB2_uc009zug.2_RNA NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN stabilin 2 precursor 1849 Extracellular (Potential).|FAS1 6. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity ovary(9)|skin(5) 14 AGCTGGCAGGGACATCGTGAG 0.507 NA 3 10 0 0 0 0 SVOP 55530 broad.mit.edu 37 12 109306418 109306418 + Missense_Mutation SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:109306418C>A uc010sxh.1 - 15 1712 c.1540G>T c.(1540-1542)GGC>TGC p.G514C NM_018711 NP_061181 Q8N4V2 SVOP_HUMAN SV2 related protein 514 Cytoplasmic (Potential). cell junction|integral to membrane|synaptic vesicle membrane ion transmembrane transporter activity 0 AGTCCTCGGCCTTTGGTCTCA 0.607 NA 44 79 6.48e-29 7.09e-29 1 0 CIT 11113 broad.mit.edu 37 12 120241085 120241085 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:120241085G>A uc001txi.1 - 10 1273 c.1220C>T c.(1219-1221)TCA>TTA p.S407L CIT_uc001txh.1_5'UTR|CIT_uc001txj.1_Missense_Mutation_p.S407L NM_007174 NP_009105 O14578 CTRO_HUMAN citron 407 AGC-kinase C-terminal. intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1) 10 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) CGAGAAGCCTGAGGGGCTCAG 0.493 NA 34 85 0 0 0 0 RPLP0 6175 broad.mit.edu 37 12 120635242 120635242 + Silent SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:120635242G>C uc001txp.2 - 7 912 c.675C>G c.(673-675)GTC>GTG p.V225V GCN1L1_uc001txo.2_5'Flank|RPLP0_uc001txq.2_Silent_p.V225V|RPLP0_uc001txr.2_Silent_p.V163V NM_053275 NP_444505 P05388 RLA0_HUMAN ribosomal protein P0 225 endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleus protein binding|RNA binding|structural constituent of ribosome ovary(1) 1 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TCTGCAGACAGACACTGGCAA 0.488 NA 16 31 0 0 0 0 VPS33A 65082 broad.mit.edu 37 12 122750886 122750886 + Missense_Mutation SNP G G T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:122750886G>T uc001ucd.2 - 1 183 c.70C>A c.(70-72)CGC>AGC p.R24S VPS33A_uc001ucc.2_RNA|VPS33A_uc001uce.2_Missense_Mutation_p.R24S NM_022916 NP_075067 Q96AX1 VP33A_HUMAN vacuolar protein sorting 33A 24 lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm protein binding skin(1) 1 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23) AGGAACTCGCGCAGCTCGCGA 0.667 NA 10 41 4.69e-08 5e-08 1 0 ZCCHC8 55596 broad.mit.edu 37 12 122958596 122958596 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:122958596C>T uc001ucn.2 - 14 1703 c.1572G>A c.(1570-1572)CAG>CAA p.Q524Q ZCCHC8_uc001ucl.2_Silent_p.Q135Q|ZCCHC8_uc001ucm.2_Silent_p.Q286Q|ZCCHC8_uc009zxp.2_Silent_p.Q286Q|ZCCHC8_uc009zxq.2_Silent_p.Q286Q NM_017612 NP_060082 Q6NZY4 ZCHC8_HUMAN zinc finger, CCHC domain containing 8 524 Potential. catalytic step 2 spliceosome nucleic acid binding|protein binding|zinc ion binding 0 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202) AGATCCGCCTCTGCTGTTCTT 0.572 NA 51 107 0 0 0 0 DNAH10 196385 broad.mit.edu 37 12 124298073 124298073 + Silent SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:124298073C>G uc001uft.3 + 19 3178 c.3153C>G c.(3151-3153)CTC>CTG p.L1051L DNAH10_uc010tav.1_Silent_p.L593L|DNAH10_uc010taw.1_Silent_p.L536L NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 1051 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) GACTTCAGCTCAGGCATCTGG 0.438 NA 11 36 0 0 0 0 POLE 5426 broad.mit.edu 37 12 133248806 133248806 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:133248806C>T uc001uks.1 - 16 1833 c.1789G>A c.(1789-1791)GAA>AAA p.E597K POLE_uc010tbq.1_RNA|POLE_uc009zyu.1_Missense_Mutation_p.E570K NM_006231 NP_006222 Q07864 DPOE1_HUMAN DNA-directed DNA polymerase epsilon 597 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding ovary(3)|skin(3)|lung(1)|central_nervous_system(1) 8 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) GTTACCTCTTCAAAGTTGGTG 0.557 NA DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 12 64 0 0 0 0 ZNF10 7556 broad.mit.edu 37 12 133732691 133732691 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:133732691C>T uc009zzb.2 + 5 1306 c.859C>T c.(859-861)CAT>TAT p.H287Y ZNF268_uc010tbv.1_Intron|ZNF10_uc001ulq.2_Missense_Mutation_p.H287Y NM_015394 NP_056209 P21506 ZNF10_HUMAN zinc finger protein 10 287 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|skin(1) 3 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948) OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05) TCAGCTTATTCATACTGGAGA 0.418 NA 16 39 0 0 0 0 RNF17 56163 broad.mit.edu 37 13 25348972 25348972 + Silent SNP A A C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr13:25348972A>C uc001upr.2 + 3 288 c.247A>C c.(247-249)AGA>CGA p.R83R RNF17_uc010tdd.1_Intron|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Silent_p.R83R|RNF17_uc001ups.2_Silent_p.R22R|RNF17_uc001upq.1_Silent_p.R83R NM_031277 NP_112567 Q9BXT8 RNF17_HUMAN ring finger protein 17 83 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding ovary(1)|skin(1) 2 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) TGTAAATACTAGACAACGCTA 0.348 NA 16 27 0 0 0 0 USPL1 10208 broad.mit.edu 37 13 31232715 31232715 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr13:31232715C>T uc001utc.2 + 9 2933 c.2501C>T c.(2500-2502)TCG>TTG p.S834L USPL1_uc001utd.2_Missense_Mutation_p.S505L|USPL1_uc001ute.1_Missense_Mutation_p.S505L NM_005800 NP_005791 Q5W0Q7 USPL1_HUMAN ubiquitin specific peptidase like 1 834 ubiquitin-dependent protein catabolic process ubiquitin thiolesterase activity pancreas(2)|skin(1) 3 Lung SC(185;0.0257)|Breast(139;0.203) all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134) GGCCCTCCATCGTCTAATGGC 0.507 NA 17 70 0 0 0 0 STARD13 90627 broad.mit.edu 37 13 33703293 33703293 + Silent SNP G G T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr13:33703293G>T uc001uuw.2 - 5 1647 c.1521C>A c.(1519-1521)GTC>GTA p.V507V STARD13_uc001uuu.2_Silent_p.V499V|STARD13_uc001uuv.2_Silent_p.V389V|STARD13_uc001uux.2_Silent_p.V472V|STARD13_uc010tec.1_RNA|STARD13_uc010abh.1_Silent_p.V492V NM_178006 NP_821074 Q9Y3M8 STA13_HUMAN StAR-related lipid transfer (START) domain 507 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|lipid particle|mitochondrial membrane GTPase activator activity|protein binding ovary(2)|pancreas(1)|skin(1) 4 all_epithelial(80;0.155) Lung SC(185;0.0367) all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143) GTTCAGGCAAGACATCTTTGG 0.448 NA 23 90 6.21e-17 6.76e-17 1 0 HTR2A 3356 broad.mit.edu 37 13 47466711 47466711 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr13:47466711G>A uc001vbq.2 - 2 561 c.427C>T c.(427-429)CTG>TTG p.L143L HTR2A_uc001vbr.2_Silent_p.L43L|HTR2A_uc010acr.2_Silent_p.L143L NM_000621 NP_000612 P28223 5HT2A_HUMAN 5-hydroxytryptamine receptor 2A isoform 1 143 Extracellular (By similarity). ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission integral to plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333) GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224) Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) TTGCTCGGCAGAGGCCACCGG 0.572 NA 20 84 0 0 0 0 MLNR 2862 broad.mit.edu 37 13 49796350 49796350 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr13:49796350C>T uc010tgj.1 + 2 1076 c.1076C>T c.(1075-1077)TCA>TTA p.S359L NM_001507 NP_001498 O43193 MTLR_HUMAN motilin receptor 359 Cytoplasmic (Potential). digestion integral to plasma membrane growth hormone-releasing hormone receptor activity 0 all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;6.1e-09) AACCTCATTTCAAAGAAGTAC 0.512 NA 37 105 0 0 0 0 PCDH17 27253 broad.mit.edu 37 13 58208612 58208612 + Missense_Mutation SNP G G T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr13:58208612G>T uc001vhq.1 + 1 2824 c.1932G>T c.(1930-1932)GAG>GAT p.E644D PCDH17_uc010aec.1_Missense_Mutation_p.E644D NM_001040429 NP_001035519 O14917 PCD17_HUMAN protocadherin 17 precursor 644 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 7 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) CCAGCGGCGAGATCCGCACGC 0.657 NA 43 122 2.13e-23 2.33e-23 1 0 ZIC5 85416 broad.mit.edu 37 13 100622424 100622424 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr13:100622424G>A uc001vom.1 - 1 1755 c.1506C>T c.(1504-1506)TTC>TTT p.F502F NM_033132 NP_149123 Q96T25 ZIC5_HUMAN zinc finger protein of the cerebellum 5 502 C2H2-type 2. cell differentiation nucleus DNA binding|zinc ion binding 0 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CGGAGCGCGCGAAGACCTTGC 0.502 NA 22 95 0 0 0 0 FLJ10357 55701 broad.mit.edu 37 14 21556189 21556189 + Missense_Mutation SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr14:21556189C>A uc001vzp.2 + 22 4479 c.4450C>A c.(4450-4452)CAA>AAA p.Q1484K FLJ10357_uc010aij.2_RNA|FLJ10357_uc010tln.1_Missense_Mutation_p.Q722K NM_018071 NP_060541 Q8TER5 ARH40_HUMAN hypothetical protein LOC55701 1484 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity 0 all_cancers(95;0.00185) OV - Ovarian serous cystadenocarcinoma(11;5.79e-11)|Epithelial(56;8.35e-09)|all cancers(55;4.23e-08) GBM - Glioblastoma multiforme(265;0.0197) CCCCAGCCTGCAACCCCCCCA 0.577 NA 19 79 1.45e-14 1.57e-14 1 0 SUPT16H 11198 broad.mit.edu 37 14 21827748 21827748 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr14:21827748C>G uc001wao.2 - 19 2535 c.2196G>C c.(2194-2196)AAG>AAC p.K732N SUPT16H_uc001wan.2_5'Flank NM_007192 NP_009123 Q9Y5B9 SP16H_HUMAN chromatin-specific transcription elongation 732 DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|nucleoplasm GTP binding 0 all_cancers(95;0.00115) Epithelial(56;1.62e-06)|all cancers(55;1.49e-05) GBM - Glioblastoma multiforme(265;0.0159) TGTGCCGCTTCTTCCCAAACA 0.463 NA 18 49 0 0 0 0 CDH24 64403 broad.mit.edu 37 14 23523752 23523752 + Silent SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr14:23523752G>C uc001wil.2 - 5 1007 c.747C>G c.(745-747)CTC>CTG p.L249L CDH24_uc010akf.2_Silent_p.L249L|CDH24_uc001win.3_Silent_p.L249L NM_022478 NP_071923 Q86UP0 CAD24_HUMAN cadherin-like 24 isoform 1 249 Cadherin 2.|Extracellular (Potential). adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion cell-cell junction|cell-cell junction|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding central_nervous_system(1) 1 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.00654) TGACATCGCTGAGCGTGACAG 0.607 NA OREG0022594 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 27 0 0 0 0 ACIN1 22985 broad.mit.edu 37 14 23548138 23548138 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr14:23548138C>G uc001wit.3 - 7 2400 c.2072G>C c.(2071-2073)TGT>TCT p.C691S ACIN1_uc001wis.3_Missense_Mutation_p.C373S|ACIN1_uc010akg.2_Missense_Mutation_p.C691S NM_014977 NP_055792 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 691 apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding ovary(2)|large_intestine(1)|skin(1) 4 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) CTTTGGCTCACAGACCTGCAG 0.542 NA 9 39 0 0 0 0 ACIN1 22985 broad.mit.edu 37 14 23549752 23549752 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr14:23549752C>G uc001wit.3 - 6 1294 c.966G>C c.(964-966)GAG>GAC p.E322D ACIN1_uc001wis.3_Missense_Mutation_p.E4D|ACIN1_uc010akg.2_Missense_Mutation_p.E322D|ACIN1_uc010tnj.1_Missense_Mutation_p.E282D NM_014977 NP_055792 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 322 Glu-rich. apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding ovary(2)|large_intestine(1)|skin(1) 4 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) TTTTGGGTCTCTCATCCATCA 0.463 NA 30 83 0 0 0 0 NYNRIN 57523 broad.mit.edu 37 14 24884017 24884017 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr14:24884017C>G uc001wpf.3 + 9 3380 c.3062C>G c.(3061-3063)TCT>TGT p.S1021C NM_025081 NP_079357 Q9P2P1 NYNRI_HUMAN hypothetical protein LOC57523 1021 DNA integration integral to membrane DNA binding ovary(2)|central_nervous_system(1) 3 GACCTTGACTCTTCGCTGGCG 0.607 NA 22 35 0 0 0 0 MIA2 117153 broad.mit.edu 37 14 39716595 39716595 + Nonsense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr14:39716595C>T uc001wux.2 + 4 1011 c.817C>T c.(817-819)CAA>TAA p.Q273* MIA2_uc010amy.1_Nonsense_Mutation_p.Q204* NM_054024 NP_473365 Q96PC5 MIA2_HUMAN melanoma inhibitory activity 2 273 extracellular region ovary(1)|breast(1) 2 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0216) TGGTGAGCCTCAAACAGAACA 0.393 NA 9 36 0 0 0 0 WDHD1 11169 broad.mit.edu 37 14 55474026 55474026 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr14:55474026C>T uc001xbm.1 - 7 650 c.572G>A c.(571-573)AGA>AAA p.R191K WDHD1_uc001xbn.1_Missense_Mutation_p.R68K NM_007086 NP_009017 O75717 WDHD1_HUMAN WD repeat and HMG-box DNA binding protein 1 191 WD 5. cytoplasm|nucleoplasm DNA binding skin(1) 1 CCAAGCAAGTCTGCAGATTGA 0.254 NA 6 26 0 0 0 0 ESR2 2100 broad.mit.edu 37 14 64746790 64746790 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr14:64746790G>A uc001xha.1 - 3 912 c.444C>T c.(442-444)TTC>TTT p.F148F ESR2_uc001xgu.2_Silent_p.F148F|ESR2_uc001xgv.2_Silent_p.F148F|ESR2_uc001xgw.2_RNA|ESR2_uc001xgx.2_Silent_p.F148F|ESR2_uc001xgy.1_Silent_p.F148F|ESR2_uc001xgz.1_Silent_p.F148F|ESR2_uc010aqb.1_Intron|ESR2_uc010aqc.1_Silent_p.F148F NM_001437 NP_001428 Q92731 ESR2_HUMAN estrogen receptor beta isoform 1 148 Modulating. cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor mitochondrion|nucleoplasm enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding central_nervous_system(2)|ovary(1) 3 all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437) Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108) AGACAGCGCAGAAGTGAGCAT 0.478 NA 39 190 0 0 0 0 GALNTL1 57452 broad.mit.edu 37 14 69805378 69805378 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr14:69805378C>G uc010aqu.1 + 10 1071 c.978C>G c.(976-978)TTC>TTG p.F326L GALNTL1_uc001xla.1_Missense_Mutation_p.F326L|GALNTL1_uc001xlb.1_Missense_Mutation_p.F326L NM_020692 NP_065743 Q8N428 GLTL1_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 326 Catalytic subdomain B.|Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(1)|central_nervous_system(1) 2 all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656) AGCTCTCCTTCAGGGTGTGGA 0.592 NA 11 92 0 0 0 0 NRXN3 9369 broad.mit.edu 37 14 79432618 79432618 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr14:79432618G>A uc001xun.2 + 9 2018 c.1527G>A c.(1525-1527)CTG>CTA p.L509L NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Silent_p.L634L NM_004796 NP_004787 Q9Y4C0 NRX3A_HUMAN neurexin 3 isoform 1 precursor 882 Extracellular (Potential).|Laminin G-like 5. axon guidance|cell adhesion integral to plasma membrane metal ion binding|receptor activity ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1) 10 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) GCAGCTACCTGAGCCTTGCCA 0.483 NA 17 81 0 0 0 0 TRIP11 9321 broad.mit.edu 37 14 92469778 92469778 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr14:92469778C>T uc001xzy.2 - 11 5330 c.4542G>A c.(4540-4542)TTG>TTA p.L1514L TRIP11_uc010auf.1_Silent_p.L1250L NM_004239 NP_004230 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 1514 Potential. transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1) 13 COAD - Colon adenocarcinoma(157;0.223) CTTTCTCTTTCAATAGCTGTT 0.378 NA T PDGFRB AML 6 52 0 0 0 0 TRIP11 9321 broad.mit.edu 37 14 92469811 92469811 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr14:92469811C>T uc001xzy.2 - 11 5297 c.4509G>A c.(4507-4509)ATG>ATA p.M1503I TRIP11_uc010auf.1_Missense_Mutation_p.M1239I NM_004239 NP_004230 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 1503 Potential. transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1) 13 COAD - Colon adenocarcinoma(157;0.223) CCTTCTCCTTCATTGAGTGGC 0.413 NA T PDGFRB AML 15 64 0 0 0 0 TRIP11 9321 broad.mit.edu 37 14 92469841 92469841 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr14:92469841C>T uc001xzy.2 - 11 5267 c.4479G>A c.(4477-4479)CTG>CTA p.L1493L TRIP11_uc010auf.1_Silent_p.L1229L NM_004239 NP_004230 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 1493 Potential. transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1) 13 COAD - Colon adenocarcinoma(157;0.223) CTTTTTCTCGCAGCATCATAG 0.378 NA T PDGFRB AML 20 92 0 0 0 0 TRIP11 9321 broad.mit.edu 37 14 92470322 92470322 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr14:92470322C>T uc001xzy.2 - 11 4786 c.3998G>A c.(3997-3999)AGT>AAT p.S1333N TRIP11_uc010auf.1_Missense_Mutation_p.S1069N NM_004239 NP_004230 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 1333 Potential. transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1) 13 COAD - Colon adenocarcinoma(157;0.223) TTCAGACTTACTTGCTCTAAG 0.383 NA T PDGFRB AML 12 59 0 0 0 0 TRIP11 9321 broad.mit.edu 37 14 92470328 92470328 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr14:92470328C>G uc001xzy.2 - 11 4780 c.3992G>C c.(3991-3993)AGA>ACA p.R1331T TRIP11_uc010auf.1_Missense_Mutation_p.R1067T NM_004239 NP_004230 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 1331 Potential. transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1) 13 COAD - Colon adenocarcinoma(157;0.223) CTTACTTGCTCTAAGACACTC 0.383 NA T PDGFRB AML 9 57 0 0 0 0 TRIP11 9321 broad.mit.edu 37 14 92470587 92470587 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr14:92470587C>G uc001xzy.2 - 11 4521 c.3733G>C c.(3733-3735)GAG>CAG p.E1245Q TRIP11_uc010auf.1_Missense_Mutation_p.E981Q NM_004239 NP_004230 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 1245 Potential. transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1) 13 COAD - Colon adenocarcinoma(157;0.223) TGGTGAAGCTCTTCCTGAAGC 0.408 NA T PDGFRB AML 8 39 0 0 0 0 TRIP11 9321 broad.mit.edu 37 14 92470704 92470704 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr14:92470704C>T uc001xzy.2 - 11 4404 c.3616G>A c.(3616-3618)GAG>AAG p.E1206K TRIP11_uc010auf.1_Missense_Mutation_p.E942K NM_004239 NP_004230 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 1206 Potential. transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1) 13 COAD - Colon adenocarcinoma(157;0.223) TGTAGAAGCTCCTCAAATTGA 0.398 NA T PDGFRB AML 16 64 0 0 0 0 TRIP11 9321 broad.mit.edu 37 14 92471001 92471001 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr14:92471001C>T uc001xzy.2 - 11 4107 c.3319G>A c.(3319-3321)GAG>AAG p.E1107K TRIP11_uc010auf.1_Missense_Mutation_p.E843K NM_004239 NP_004230 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 1107 Potential. transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1) 13 COAD - Colon adenocarcinoma(157;0.223) CTAGTCTTCTCATTCAAAACA 0.363 NA T PDGFRB AML 13 35 0 0 0 0 TRIP11 9321 broad.mit.edu 37 14 92471131 92471131 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr14:92471131C>T uc001xzy.2 - 11 3977 c.3189G>A c.(3187-3189)CAG>CAA p.Q1063Q TRIP11_uc010auf.1_Silent_p.Q799Q NM_004239 NP_004230 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 1063 Potential. transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1) 13 COAD - Colon adenocarcinoma(157;0.223) CCAAATCTTTCTGCTGAATAA 0.343 NA T PDGFRB AML 14 42 0 0 0 0 TRIP11 9321 broad.mit.edu 37 14 92471181 92471181 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr14:92471181C>G uc001xzy.2 - 11 3927 c.3139G>C c.(3139-3141)GAT>CAT p.D1047H TRIP11_uc010auf.1_Missense_Mutation_p.D783H NM_004239 NP_004230 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 1047 Potential. transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1) 13 COAD - Colon adenocarcinoma(157;0.223) GACAACTGATCAATCTGTTTA 0.328 NA T PDGFRB AML 9 41 0 0 0 0 TRIP11 9321 broad.mit.edu 37 14 92471470 92471470 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr14:92471470C>T uc001xzy.2 - 11 3638 c.2850G>A c.(2848-2850)ATG>ATA p.M950I TRIP11_uc010auf.1_Missense_Mutation_p.M686I NM_004239 NP_004230 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 950 Potential. transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1) 13 COAD - Colon adenocarcinoma(157;0.223) GTGTGGCGTTCATTTGCTCAT 0.368 NA T PDGFRB AML 15 113 0 0 0 0 TRIP11 9321 broad.mit.edu 37 14 92471478 92471478 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr14:92471478C>T uc001xzy.2 - 11 3630 c.2842G>A c.(2842-2844)GAG>AAG p.E948K TRIP11_uc010auf.1_Missense_Mutation_p.E684K NM_004239 NP_004230 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 948 Potential. transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1) 13 COAD - Colon adenocarcinoma(157;0.223) TTCATTTGCTCATGCTGGTAT 0.363 NA T PDGFRB AML 15 106 0 0 0 0 TRIP11 9321 broad.mit.edu 37 14 92471517 92471517 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr14:92471517C>G uc001xzy.2 - 11 3591 c.2803G>C c.(2803-2805)GAG>CAG p.E935Q TRIP11_uc010auf.1_Missense_Mutation_p.E671Q NM_004239 NP_004230 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 935 Potential. transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1) 13 COAD - Colon adenocarcinoma(157;0.223) TTCTTTTGCTCTTGTAAAGAC 0.368 NA T PDGFRB AML 15 107 0 0 0 0 TRIP11 9321 broad.mit.edu 37 14 92471562 92471562 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr14:92471562C>T uc001xzy.2 - 11 3546 c.2758G>A c.(2758-2760)GAA>AAA p.E920K TRIP11_uc010auf.1_Missense_Mutation_p.E656K NM_004239 NP_004230 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 920 Potential. transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1) 13 COAD - Colon adenocarcinoma(157;0.223) TTTTGATCTTCAATTATCTTT 0.373 NA T PDGFRB AML 24 86 0 0 0 0 TRIP11 9321 broad.mit.edu 37 14 92471643 92471643 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr14:92471643C>T uc001xzy.2 - 11 3465 c.2677G>A c.(2677-2679)GAA>AAA p.E893K TRIP11_uc010auf.1_Missense_Mutation_p.E629K NM_004239 NP_004230 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 893 Potential. transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1) 13 COAD - Colon adenocarcinoma(157;0.223) GATGCTAGTTCAGTAACACTA 0.403 NA T PDGFRB AML 18 89 0 0 0 0 TRIP11 9321 broad.mit.edu 37 14 92488028 92488028 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr14:92488028G>A uc001xzy.2 - 4 1248 c.460C>T c.(460-462)CCT>TCT p.P154S NM_004239 NP_004230 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 154 Potential. transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1) 13 COAD - Colon adenocarcinoma(157;0.223) AAAGCTGAAGGATGATGACTA 0.433 NA T PDGFRB AML 11 44 0 0 0 0 RIN3 79890 broad.mit.edu 37 14 93022127 93022127 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr14:93022127G>C uc001yap.2 + 2 228 c.76G>C c.(76-78)GAG>CAG p.E26Q RIN3_uc010auk.2_5'UTR NM_024832 NP_079108 Q8TB24 RIN3_HUMAN Ras and Rab interactor 3 26 Poly-Glu. endocytosis|signal transduction cytoplasmic membrane-bounded vesicle|early endosome GTPase activator activity|Ras GTPase binding lung(2)|ovary(1) 3 all_cancers(154;0.0701) AGGAGAGGAAGAGGAAGAGGA 0.517 NA 14 22 0 0 0 0 KIAA1409 57578 broad.mit.edu 37 14 94041424 94041424 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr14:94041424C>G uc001ybv.1 + 14 1643 c.1560C>G c.(1558-1560)ATC>ATG p.I520M KIAA1409_uc001ybs.1_Missense_Mutation_p.I520M NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 697 integral to membrane ovary(10)|skin(4)|large_intestine(3) 17 all_cancers(154;0.0354)|all_epithelial(191;0.216) Epithelial(152;0.188) AGTTAGATATCATGGTTCCAC 0.328 NA 9 20 0 0 0 0 YY1 7528 broad.mit.edu 37 14 100743853 100743853 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr14:100743853C>T uc001ygy.1 + 5 1641 c.1161C>T c.(1159-1161)TTC>TTT p.F387F uc001ygz.1_5'Flank NM_003403 NP_003394 P25490 TYY1_HUMAN YY1 transcription factor 387 C2H2-type 4.|Involved in masking transactivation domain. cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis Ino80 complex|nuclear matrix|plasma membrane four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding 0 Melanoma(154;0.152) TGTGCCCCTTCGATGGTTGTA 0.458 NA 18 50 0 0 0 0 RCOR1 23186 broad.mit.edu 37 14 103174893 103174893 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr14:103174893G>A uc001ymb.2 + 6 743 c.743G>A c.(742-744)CGG>CAG p.R248Q NM_015156 NP_055971 Q9UKL0 RCOR1_HUMAN REST corepressor 1 248 Interaction with HDAC1.|Potential. blood coagulation|histone H4 deacetylation|interspecies interaction between organisms transcriptional repressor complex protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding ovary(1) 1 CGCCATGCCCGGAAACAAAAA 0.463 NA 4 144 0 0 0 0 PPP1R13B 23368 broad.mit.edu 37 14 104245125 104245125 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr14:104245125C>G uc001yof.1 - 4 594 c.311G>C c.(310-312)AGA>ACA p.R104T PPP1R13B_uc001yog.1_5'UTR NM_015316 NP_056131 Q96KQ4 ASPP1_HUMAN apoptosis-stimulating protein of p53, 1 104 apoptosis|induction of apoptosis|negative regulation of cell cycle cytoplasm|nucleus|plasma membrane protein binding ovary(1) 1 all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155) TATTACATTTCTCTGAGTTCG 0.308 NA 17 42 0 0 0 0 BTBD6 90135 broad.mit.edu 37 14 105716079 105716079 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr14:105716079C>T uc010tyq.1 + 5 636 c.528C>T c.(526-528)GTC>GTT p.V176V BRF1_uc010tyo.1_Intron|BRF1_uc010typ.1_Intron|BRF1_uc001yql.2_5'Flank|BRF1_uc001yqo.2_5'Flank|BRF1_uc010axg.1_Intron|BRF1_uc001yqp.2_Intron|BRF1_uc001yqn.2_5'Flank|BRF1_uc010axh.1_5'Flank|BRF1_uc010axj.1_5'Flank NM_033271 NP_150374 Q96KE9 BTBD6_HUMAN BTB domain protein BDPL 176 cytoplasmic mRNA processing body 0 Melanoma(154;0.226) OV - Ovarian serous cystadenocarcinoma(23;0.0163)|Epithelial(46;0.0391) Epithelial(152;0.18) AAGCCTGTGTCAACTTTCTGG 0.567 NA 6 62 0 0 0 0 BTBD6 90135 broad.mit.edu 37 14 105716585 105716585 + Missense_Mutation SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr14:105716585C>A uc010tyq.1 + 5 1142 c.1034C>A c.(1033-1035)GCC>GAC p.A345D BRF1_uc010tyo.1_Intron|BRF1_uc010typ.1_Intron|BRF1_uc001yql.2_5'Flank|BRF1_uc001yqo.2_5'Flank|BRF1_uc010axg.1_Intron|BRF1_uc001yqp.2_Intron|BRF1_uc001yqn.2_5'Flank|BRF1_uc010axh.1_5'Flank|BRF1_uc010axj.1_5'Flank NM_033271 NP_150374 Q96KE9 BTBD6_HUMAN BTB domain protein BDPL 345 cytoplasmic mRNA processing body 0 Melanoma(154;0.226) OV - Ovarian serous cystadenocarcinoma(23;0.0163)|Epithelial(46;0.0391) Epithelial(152;0.18) CAGTCTTCTGCCTACCGCAGC 0.622 NA 18 57 3.53e-06 3.71e-06 1 0 TUBGCP5 114791 broad.mit.edu 37 15 22850972 22850972 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr15:22850972C>T uc001yur.3 + 11 1364 c.1234C>T c.(1234-1236)CTG>TTG p.L412L TUBGCP5_uc001yuq.2_Silent_p.L412L|TUBGCP5_uc010axz.1_5'UTR NM_052903 NP_443135 Q96RT8 GCP5_HUMAN tubulin, gamma complex associated protein 5 412 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding skin(1) 1 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949) GCTCAAGGTTCTGCACAAAGT 0.448 NA 21 43 0 0 0 0 CYFIP1 23191 broad.mit.edu 37 15 22935917 22935917 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr15:22935917G>A uc001yus.2 + 9 957 c.853G>A c.(853-855)GAT>AAT p.D285N CYFIP1_uc001yut.2_Missense_Mutation_p.D285N|CYFIP1_uc010aya.1_Missense_Mutation_p.D313N NM_014608 NP_055423 Q7L576 CYFP1_HUMAN cytoplasmic FMR1 interacting protein 1 isoform 285 axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome actin filament binding|Rac GTPase binding ovary(4)|pancreas(3)|liver(1)|skin(1) 9 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101) CTATAAGTTGGATGCCAAGAA 0.368 NA 5 26 0 0 0 0 HERC2 8924 broad.mit.edu 37 15 28463722 28463722 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr15:28463722G>A uc001zbj.2 - 38 6047 c.5941C>T c.(5941-5943)CAT>TAT p.H1981Y NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 1981 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) ATCTCAGCATGAACTCCAGCA 0.458 NA 37 71 0 0 0 0 TRPM1 4308 broad.mit.edu 37 15 31338418 31338418 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr15:31338418G>C uc001zfm.2 - 15 1845 c.1717C>G c.(1717-1719)CTG>GTG p.L573V TRPM1_uc010azy.2_Missense_Mutation_p.L480V|TRPM1_uc001zfl.2_RNA NM_002420 NP_002411 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, 573 Cytoplasmic (Potential). cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity ovary(2)|pancreas(1)|skin(1) 4 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) TCCATTCCCAGAAGTTTAAGA 0.313 NA 11 25 0 0 0 0 C15orf57 90416 broad.mit.edu 37 15 40849428 40849428 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr15:40849428C>G uc001zmc.1 - 3 478 c.388G>C c.(388-390)GAT>CAT p.D130H uc001zlx.1_RNA|C15orf57_uc001zly.2_Missense_Mutation_p.D128H|C15orf57_uc001zma.1_Missense_Mutation_p.D139H|C15orf57_uc001zmb.1_Missense_Mutation_p.D130H|C15orf57_uc010bbr.2_Missense_Mutation_p.D128H NM_001080792 NP_001074261 Q9BV29 CO057_HUMAN coiled-coil domain containing 32 isoform a 130 ovary(1) 1 TCATCAGAATCAAGTCCATCC 0.438 NA 12 26 0 0 0 0 MAP1A 4130 broad.mit.edu 37 15 43815940 43815940 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr15:43815940G>A uc001zrt.2 + 4 2736 c.2269G>A c.(2269-2271)GAT>AAT p.D757N NM_002373 NP_002364 P78559 MAP1A_HUMAN microtubule-associated protein 1A 757 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity ovary(3)|breast(3)|pancreas(2)|skin(1) 9 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) GGAGATCCATGATGAGCCGGA 0.562 NA 11 16 0 0 0 0 SLTM 79811 broad.mit.edu 37 15 59181735 59181735 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr15:59181735C>T uc002afp.2 - 16 2186 c.2098G>A c.(2098-2100)GAA>AAA p.E700K SLTM_uc002afn.2_Missense_Mutation_p.E242K|SLTM_uc002afo.2_Missense_Mutation_p.E682K|SLTM_uc002afq.2_Missense_Mutation_p.E269K|SLTM_uc010bgd.2_Missense_Mutation_p.E269K NM_024755 NP_079031 Q9NWH9 SLTM_HUMAN modulator of estrogen induced transcription 700 Arg/Glu-rich.|Potential. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding ovary(1) 1 GCAATCCGTTCAGCTTCCTTA 0.408 NA 14 23 0 0 0 0 VPS13C 54832 broad.mit.edu 37 15 62228879 62228879 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr15:62228879G>A uc002agz.2 - 48 5746 c.5672C>T c.(5671-5673)TCA>TTA p.S1891L VPS13C_uc002aha.2_Missense_Mutation_p.S1848L|VPS13C_uc002ahb.1_Missense_Mutation_p.S1891L|VPS13C_uc002ahc.1_Missense_Mutation_p.S1848L NM_020821 NP_065872 Q709C8 VP13C_HUMAN vacuolar protein sorting 13C protein isoform 2A 1891 protein localization ovary(2) 2 GCTTGGTTGTGAGGAAGCTTC 0.373 NA 8 18 0 0 0 0 PLEKHO2 80301 broad.mit.edu 37 15 65152104 65152104 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr15:65152104C>G uc002anv.2 + 4 425 c.291C>G c.(289-291)ATC>ATG p.I97M PLEKHO2_uc010bgz.2_Intron|PLEKHO2_uc002anw.2_Missense_Mutation_p.I47M NM_025201 NP_079477 Q8TD55 PKHO2_HUMAN pleckstrin homology domain containing, family O 97 PH. ovary(1)|lung(1) 2 TCAGCGACATCAAATTCCAGG 0.488 NA 37 157 0 0 0 0 UACA 55075 broad.mit.edu 37 15 70959538 70959538 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr15:70959538G>C uc002asr.2 - 16 3589 c.3485C>G c.(3484-3486)TCT>TGT p.S1162C UACA_uc010uke.1_Missense_Mutation_p.S1053C|UACA_uc002asq.2_Missense_Mutation_p.S1149C|UACA_uc010bin.1_Missense_Mutation_p.S1137C NM_018003 NP_060473 Q9BZF9 UACA_HUMAN uveal autoantigen with coiled-coil domains and 1162 Potential. cytoskeleton|extracellular region ovary(2)|pancreas(1)|skin(1) 4 GGGTACAGAAGAGTTCTTTTG 0.398 NA 64 134 0 0 0 0 GRAMD2 196996 broad.mit.edu 37 15 72460095 72460095 + Silent SNP G G T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr15:72460095G>T uc002atq.2 - 5 378 c.354C>A c.(352-354)CTC>CTA p.L118L GRAMD2_uc010bis.2_Silent_p.L118L NM_001012642 NP_001012660 Q8IUY3 GRAM2_HUMAN GRAM domain containing 2 118 GRAM. integral to membrane 0 CCTTGCCAAAGAGGCTGGCAT 0.597 NA 16 63 6.94e-10 7.45e-10 1 0 CELF6 60677 broad.mit.edu 37 15 72582528 72582528 + Nonsense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr15:72582528G>A uc002auh.2 - 4 773 c.463C>T c.(463-465)CAG>TAG p.Q155* uc002aug.2_Intron|CELF6_uc002auk.3_RNA|CELF6_uc010biv.1_RNA|CELF6_uc010biw.2_Nonsense_Mutation_p.Q42*|CELF6_uc010ukl.1_Nonsense_Mutation_p.Q40*|CELF6_uc010ukm.1_Nonsense_Mutation_p.Q155*|CELF6_uc002aui.2_Nonsense_Mutation_p.Q261*|CELF6_uc002auj.2_Nonsense_Mutation_p.Q42* NM_052840 NP_443072 Q96J87 CELF6_HUMAN bruno-like 6, RNA binding protein 155 RRM 2. mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus nucleotide binding|RNA binding large_intestine(1)|central_nervous_system(1)|skin(1) 3 CCAAAGGGCTGGAACAGGCGT 0.617 NA 12 27 0 0 0 0 HEXA 3073 broad.mit.edu 37 15 72643480 72643480 + Missense_Mutation SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr15:72643480C>A uc002aun.3 - 6 873 c.666G>T c.(664-666)ATG>ATT p.M222I uc002aug.2_RNA|CELF6_uc002auk.3_Intron|HEXA_uc010ukn.1_Missense_Mutation_p.M233I|HEXA_uc002auo.3_Missense_Mutation_p.M85I|HEXA_uc010bix.2_Missense_Mutation_p.M222I|HEXA_uc010biy.2_Missense_Mutation_p.M85I|HEXA_uc010uko.1_Missense_Mutation_p.M48I|HEXA_uc010biz.1_RNA NM_000520 NP_000511 P06865 HEXA_HUMAN hexosaminidase A preproprotein 222 cell death lysosome beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity ovary(3)|upper_aerodigestive_tract(1) 4 ATACCTTTCTCATGAGCTCTG 0.468 NA 10 38 7.04e-09 7.52e-09 1 0 BBS4 585 broad.mit.edu 37 15 73002044 73002044 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr15:73002044C>T uc002avb.2 + 3 123 c.80C>T c.(79-81)CCA>CTA p.P27L BBS4_uc010ukv.1_Missense_Mutation_p.P15L|BBS4_uc002avc.2_5'UTR|BBS4_uc002avd.2_Missense_Mutation_p.P35L NM_033028 NP_149017 Q96RK4 BBS4_HUMAN Bardet-Biedl syndrome 4 27 Required for localization to centrosomes. adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity 0 TGCCTAGCTCCAGAGTTTCCT 0.358 NA Bardet-Biedl_syndrome 25 90 0 0 0 0 CHRNA3 1136 broad.mit.edu 37 15 78894511 78894511 + Missense_Mutation SNP G G T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr15:78894511G>T uc002bec.2 - 5 659 c.473C>A c.(472-474)TCC>TAC p.S158Y CHRNA3_uc002bea.2_RNA|CHRNA3_uc002beb.2_Missense_Mutation_p.S158Y NM_000743 NP_000734 P32297 ACHA3_HUMAN cholinergic receptor, nicotinic, alpha 3 158 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 GATTTTACAGGAGCTCTTAAA 0.493 NA 6 93 3.6e-05 3.76e-05 1 0 RASGRF1 5923 broad.mit.edu 37 15 79296198 79296198 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr15:79296198C>T uc002beq.2 - 16 2818 c.2443G>A c.(2443-2445)GAG>AAG p.E815K RASGRF1_uc002bep.2_Missense_Mutation_p.E799K|RASGRF1_uc010blm.1_Missense_Mutation_p.E724K|RASGRF1_uc002ber.3_Missense_Mutation_p.E799K|RASGRF1_uc010unh.1_Missense_Mutation_p.E210K|RASGRF1_uc002beo.2_Missense_Mutation_p.E31K NM_002891 NP_002882 Q13972 RGRF1_HUMAN Ras protein-specific guanine 817 activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity skin(4)|ovary(1)|central_nervous_system(1) 6 GTATCGCCCTCATCTGGAATC 0.607 NA 14 38 0 0 0 0 HOMER2 9455 broad.mit.edu 37 15 83518566 83518566 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr15:83518566C>T uc002bjg.2 - 9 1152 c.966G>A c.(964-966)CTG>CTA p.L322L HOMER2_uc002bjh.2_Silent_p.L311L|HOMER2_uc002bjj.2_Silent_p.L256L|HOMER2_uc002bji.2_Silent_p.L267L NM_199330 NP_955362 Q9NSB8 HOME2_HUMAN homer 2 isoform 2 322 Potential. metabotropic glutamate receptor signaling pathway cell junction|cytoplasm|postsynaptic density|postsynaptic membrane 0 ACTCCACCTTCAGGTGGCGCT 0.547 NA OREG0023389 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 28 55 0 0 0 0 BTBD1 53339 broad.mit.edu 37 15 83687528 83687528 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr15:83687528G>A uc002bjn.2 - 7 1424 c.1221C>T c.(1219-1221)TTC>TTT p.F407F BTBD1_uc002bjo.2_Missense_Mutation_p.S378L NM_025238 NP_079514 Q9H0C5 BTBD1_HUMAN BTB (POZ) domain containing 1 isoform 1 407 cytoplasmic mRNA processing body|protein complex protein binding ovary(1)|central_nervous_system(1) 2 all cancers(203;0.000186) ACATGACCCTGAATGTGTTAG 0.418 NA 13 48 0 0 0 0 ALPK3 57538 broad.mit.edu 37 15 85370749 85370749 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr15:85370749G>C uc002ble.2 + 3 990 c.823G>C c.(823-825)GAG>CAG p.E275Q NM_020778 NP_065829 Q96L96 ALPK3_HUMAN alpha-kinase 3 275 heart development nucleus ATP binding|protein serine/threonine kinase activity stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1) 12 BRCA - Breast invasive adenocarcinoma(143;0.0587) TCAGCTCACAGAGGAGACCCA 0.562 NA 6 46 0 0 0 0 ALPK3 57538 broad.mit.edu 37 15 85405874 85405874 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr15:85405874G>A uc002ble.2 + 10 4911 c.4744G>A c.(4744-4746)GAG>AAG p.E1582K ALPK3_uc010upc.1_5'Flank NM_020778 NP_065829 Q96L96 ALPK3_HUMAN alpha-kinase 3 1582 heart development nucleus ATP binding|protein serine/threonine kinase activity stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1) 12 BRCA - Breast invasive adenocarcinoma(143;0.0587) AGTTGGAGAAGAGATTGAGAT 0.572 NA 19 58 0 0 0 0 ALPK3 57538 broad.mit.edu 37 15 85407691 85407691 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr15:85407691G>A uc002ble.2 + 12 5291 c.5124G>A c.(5122-5124)CTG>CTA p.L1708L ALPK3_uc010upc.1_Silent_p.L9L NM_020778 NP_065829 Q96L96 ALPK3_HUMAN alpha-kinase 3 1708 Alpha-type protein kinase. heart development nucleus ATP binding|protein serine/threonine kinase activity stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1) 12 BRCA - Breast invasive adenocarcinoma(143;0.0587) CACTGTATCTGATCTACCGGC 0.527 NA 35 59 0 0 0 0 AKAP13 11214 broad.mit.edu 37 15 86118486 86118486 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr15:86118486C>G uc002blv.1 + 6 957 c.787C>G c.(787-789)CAT>GAT p.H263D AKAP13_uc002blt.1_Missense_Mutation_p.H263D|AKAP13_uc002blu.1_Missense_Mutation_p.H263D NM_007200 NP_009131 Q12802 AKP13_HUMAN A-kinase anchor protein 13 isoform 2 263 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1) 9 TGATTCACATCATGAACACCC 0.393 NA 33 91 0 0 0 0 C15orf42 90381 broad.mit.edu 37 15 90144539 90144539 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr15:90144539C>G uc002boe.2 + 10 2164 c.2164C>G c.(2164-2166)CAG>GAG p.Q722E NM_152259 NP_689472 Q7Z2Z1 TICRR_HUMAN leucine-rich repeat kinase 1 722 cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation nucleus chromatin binding|protein binding ovary(4)|central_nervous_system(2)|skin(1) 7 Lung NSC(78;0.0237)|all_lung(78;0.0478) BRCA - Breast invasive adenocarcinoma(143;0.128) GTGCCAGCTTCAGGTATTTCT 0.373 NA 6 34 0 0 0 0 CRTC3 64784 broad.mit.edu 37 15 91161162 91161162 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr15:91161162C>T uc002bpp.2 + 8 767 c.661C>T c.(661-663)CCG>TCG p.P221S CRTC3_uc002bpo.2_Missense_Mutation_p.P221S NM_022769 NP_073606 Q6UUV7 CRTC3_HUMAN transducer of regulated CREB protein 3 isoform 221 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus CRTC3/MAML2(26) salivary_gland(26)|ovary(1) 27 Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163) BRCA - Breast invasive adenocarcinoma(143;0.0745) GTTAAATGTTCCGAAGCCACT 0.433 NA T MAML2 salivary gland mucoepidermoid 12 47 0 0 0 0 MAN2A2 4122 broad.mit.edu 37 15 91448544 91448544 + Nonsense_Mutation SNP G G T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr15:91448544G>T uc010bnz.2 + 3 311 c.196G>T c.(196-198)GAG>TAG p.E66* MAN2A2_uc010boa.2_Nonsense_Mutation_p.E108*|MAN2A2_uc002bqc.2_Nonsense_Mutation_p.E66*|MAN2A2_uc010uql.1_5'Flank|MAN2A2_uc010uqm.1_5'Flank NM_006122 NP_006113 P49641 MA2A2_HUMAN mannosidase, alpha, class 2A, member 2 66 Lumenal (Potential). mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding large_intestine(2)|ovary(1) 3 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.229) GGAGAACCATGAGATTATCAG 0.547 NA 25 83 1.55e-16 1.69e-16 1 0 IGF1R 3480 broad.mit.edu 37 15 99459287 99459287 + Silent SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr15:99459287G>C uc002bul.2 + 9 1973 c.1923G>C c.(1921-1923)CTG>CTC p.L641L IGF1R_uc010urq.1_Silent_p.L641L|IGF1R_uc010bon.2_Silent_p.L641L|IGF1R_uc010urr.1_Silent_p.L91L NM_000875 NP_000866 P08069 IGF1R_HUMAN insulin-like growth factor 1 receptor precursor 641 Fibronectin type-III 2. anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization microsome ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding lung(3)|kidney(3)|ovary(1)|central_nervous_system(1) 8 all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277) ACGGCAACCTGAGTTACTACA 0.557 NA 33 105 0 0 0 0 LASS3 204219 broad.mit.edu 37 15 100943007 100943007 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr15:100943007C>G uc002bvz.2 - 13 1565 c.1063G>C c.(1063-1065)GAG>CAG p.E355Q LASS3_uc002bwa.2_Missense_Mutation_p.E366Q|LASS3_uc002bwb.2_Missense_Mutation_p.E355Q NM_178842 NP_849164 Q8IU89 CERS3_HUMAN LAG1 longevity assurance homolog 3 355 Poly-Glu. endoplasmic reticulum membrane|integral to membrane|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity ovary(2)|pancreas(1)|skin(1) 4 Lung NSC(78;0.0018)|all_lung(78;0.00278)|Melanoma(26;0.00852) OV - Ovarian serous cystadenocarcinoma(32;0.000867)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161) TTGGTAGcctcttcttcttcc 0.408 NA 7 23 0 0 0 0 MAPK8IP3 23162 broad.mit.edu 37 16 1797130 1797130 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr16:1797130C>T uc002cmk.2 + 6 965 c.845C>T c.(844-846)TCG>TTG p.S282L MAPK8IP3_uc002cmj.1_RNA|MAPK8IP3_uc002cml.2_Missense_Mutation_p.S282L|MAPK8IP3_uc010uvl.1_Missense_Mutation_p.S283L NM_015133 NP_055948 Q9UPT6 JIP3_HUMAN mitogen-activated protein kinase 8 interacting 282 vesicle-mediated transport Golgi membrane kinesin binding|MAP-kinase scaffold activity|protein kinase binding breast(2)|central_nervous_system(1) 3 TCCGTGCCCTCGGCCGCCGTC 0.672 NA 30 54 0 0 0 0 C16orf89 146556 broad.mit.edu 37 16 5112511 5112511 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr16:5112511G>A uc010bud.2 - 2 475 c.387C>T c.(385-387)CGC>CGT p.R129R ALG1_uc002cyj.2_Intron|C16orf89_uc002cyk.3_Silent_p.R129R NM_152459 NP_689672 Q6UX73 CP089_HUMAN hypothetical protein LOC146556 isoform 1 91 extracellular region ovary(1)|skin(1) 2 GCATCCCCACGCGCAGGCTCA 0.572 NA 22 59 0 0 0 0 ABAT 18 broad.mit.edu 37 16 8873373 8873373 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr16:8873373G>A uc002czc.3 + 15 1473 c.1307G>A c.(1306-1308)CGA>CAA p.R436Q ABAT_uc002czd.3_Missense_Mutation_p.R436Q|ABAT_uc010buh.2_Missense_Mutation_p.R378Q|ABAT_uc010bui.2_Missense_Mutation_p.R436Q NM_020686 NP_065737 P80404 GABT_HUMAN 4-aminobutyrate aminotransferase precursor 436 behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion 4-aminobutyrate transaminase complex|mitochondrial matrix (S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding upper_aerodigestive_tract(1) 1 Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080) GTGAGAGGACGAGGCACCTTT 0.532 NA 8 51 0 0 0 0 ABAT 18 broad.mit.edu 37 16 8875251 8875251 + Silent SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr16:8875251C>A uc002czc.3 + 16 1633 c.1467C>A c.(1465-1467)CTC>CTA p.L489L ABAT_uc002czd.3_Silent_p.L489L|ABAT_uc010buh.2_Silent_p.L431L|ABAT_uc010bui.2_Silent_p.L489L NM_020686 NP_065737 P80404 GABT_HUMAN 4-aminobutyrate aminotransferase precursor 489 behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion 4-aminobutyrate transaminase complex|mitochondrial matrix (S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding upper_aerodigestive_tract(1) 1 Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080) ACCTGTTCCTCAATATTTTCA 0.478 NA 20 53 5.04e-11 5.41e-11 1 0 SMG1 23049 broad.mit.edu 37 16 18865140 18865140 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr16:18865140G>C uc002dfm.2 - 31 4896 c.4533C>G c.(4531-4533)TTC>TTG p.F1511L SMG1_uc010bwb.2_Missense_Mutation_p.F1371L|SMG1_uc010bwa.2_Missense_Mutation_p.F242L NM_015092 NP_055907 Q96Q15 SMG1_HUMAN PI-3-kinase-related kinase SMG-1 1511 FAT.|Interaction with SMG8 and SMG9. DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1) 16 CAGACTTGCAGAAAGATATGG 0.403 NA 11 24 0 0 0 0 C16orf62 57020 broad.mit.edu 37 16 19659193 19659193 + Nonsense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr16:19659193C>T uc002dgn.1 + 24 2029 c.2017C>T c.(2017-2019)CAG>TAG p.Q673* C16orf62_uc002dgo.1_Nonsense_Mutation_p.Q606*|C16orf62_uc002dgp.1_Nonsense_Mutation_p.Q422* NM_020314 NP_064710 Q7Z3J2 CP062_HUMAN hypothetical protein LOC57020 673 integral to membrane ovary(1) 1 TGTTCTTGTGCAGTTGATTCA 0.323 NA 24 76 0 0 0 0 IL4R 3566 broad.mit.edu 37 16 27375021 27375021 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr16:27375021C>T uc002don.2 + 11 2590 c.2348C>T c.(2347-2349)TCG>TTG p.S783L IL4R_uc002dop.3_Missense_Mutation_p.S768L|IL4R_uc010bxy.2_Missense_Mutation_p.S783L|IL4R_uc002doo.2_Missense_Mutation_p.S623L NM_000418 NP_000409 P24394 IL4RA_HUMAN interleukin 4 receptor alpha chain isoform a 783 Cytoplasmic (Potential). immune response|production of molecular mediator involved in inflammatory response integral to plasma membrane identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity ovary(1)|skin(1) 2 CTGGCACCCTCGGGCATCTCA 0.612 NA 19 57 0 0 0 0 KIAA0556 23247 broad.mit.edu 37 16 27789012 27789012 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr16:27789012G>C uc002dow.2 + 26 4657 c.4633G>C c.(4633-4635)GAG>CAG p.E1545Q KIAA0556_uc010vco.1_Missense_Mutation_p.E47Q NM_015202 NP_056017 O60303 K0556_HUMAN hypothetical protein LOC23247 1545 ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1) 8 GCCCACATGTGAGCCCACCGT 0.647 NA 26 93 0 0 0 0 LAT 27040 broad.mit.edu 37 16 28997455 28997455 + Splice_Site SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr16:28997455G>C uc002dsd.2 + 4 516 c.164_splice c.e4-1 p.H55_splice uc010vct.1_Intron|LAT_uc010vdj.1_Splice_Site_p.H91_splice|LAT_uc002dsb.2_Splice_Site_p.H55_splice|LAT_uc002dsc.2_Splice_Site_p.H55_splice|LAT_uc010vdk.1_Splice_Site_p.H55_splice|LAT_uc010vdl.1_Splice_Site_p.H55_splice NM_014387 NP_055202 O43561 LAT_HUMAN linker for activation of T cells isoform a calcium-mediated signaling|integrin-mediated signaling pathway|mast cell degranulation|platelet activation|Ras protein signal transduction|regulation of T cell activation|T cell receptor signaling pathway immunological synapse|integral to membrane|intracellular|membrane raft SH3/SH2 adaptor activity 0 Hepatocellular(780;0.244) TGTGTCCTCAGACACGGTTGC 0.612 NA 36 83 0 0 0 0 TAOK2 9344 broad.mit.edu 37 16 29994478 29994478 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr16:29994478C>G uc002dva.1 + 12 1868 c.1085C>G c.(1084-1086)TCC>TGC p.S362C uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Missense_Mutation_p.S362C|TAOK2_uc002dvc.1_Missense_Mutation_p.S362C|TAOK2_uc010bzm.1_Missense_Mutation_p.S369C|TAOK2_uc002dvd.1_Missense_Mutation_p.S189C NM_016151 NP_057235 Q9UL54 TAOK2_HUMAN TAO kinase 2 isoform 2 362 Ser-rich. actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity ovary(1) 1 ATCAGCGCCTCCAGCCAGAGC 0.498 NA 42 96 0 0 0 0 TAOK2 9344 broad.mit.edu 37 16 29994909 29994909 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr16:29994909C>T uc002dva.1 + 13 2129 c.1346C>T c.(1345-1347)TCC>TTC p.S449F uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Missense_Mutation_p.S449F|TAOK2_uc002dvc.1_Missense_Mutation_p.S449F|TAOK2_uc010bzm.1_Missense_Mutation_p.S456F|TAOK2_uc002dvd.1_Missense_Mutation_p.S276F NM_016151 NP_057235 Q9UL54 TAOK2_HUMAN TAO kinase 2 isoform 2 449 actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity ovary(1) 1 GCTCCCACTTCCACCACCTCT 0.622 NA 9 466 0 0 0 0 GDPD3 79153 broad.mit.edu 37 16 30116264 30116264 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr16:30116264C>T uc002dwp.2 - 10 965 c.886G>A c.(886-888)GTC>ATC p.V296I uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|uc002dwo.1_RNA|GDPD3_uc002dwq.2_Missense_Mutation_p.V234I NM_024307 NP_077283 Q7L5L3 GDPD3_HUMAN glycerophosphodiester phosphodiesterase domain 296 GDPD.|Cytoplasmic (Potential). glycerol metabolic process|lipid metabolic process integral to membrane glycerophosphodiester phosphodiesterase activity|metal ion binding 0 TCCGTTATGACGCCAGTGGCT 0.567 NA 15 43 0 0 0 0 SRCAP 10847 broad.mit.edu 37 16 30749759 30749759 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr16:30749759G>C uc002dze.1 + 34 8783 c.8398G>C c.(8398-8400)GAA>CAA p.E2800Q SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.E2595Q NM_006662 NP_006653 Q6ZRS2 SRCAP_HUMAN Snf2-related CBP activator protein 2800 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity ovary(3)|skin(1) 4 Colorectal(24;0.198) GTCAGGGCCAGAATCCTCCCC 0.652 NA 4 76 0 0 0 0 BCKDK 10295 broad.mit.edu 37 16 31121565 31121565 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr16:31121565G>A uc002eaw.3 + 6 779 c.463G>A c.(463-465)GTG>ATG p.V155M BCKDK_uc002eav.3_Missense_Mutation_p.V155M|BCKDK_uc010cah.2_RNA|BCKDK_uc010cai.2_Missense_Mutation_p.V155M NM_005881 NP_005872 O14874 BCKD_HUMAN branched chain ketoacid dehydrogenase kinase 155 branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation mitochondrial alpha-ketoglutarate dehydrogenase complex [3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|ATP binding|protein binding|protein serine/threonine kinase activity|two-component sensor activity stomach(1)|breast(1) 2 CTGCCAGCTGGTGCGACAGCT 0.607 NA 18 66 0 0 0 0 BCKDK 10295 broad.mit.edu 37 16 31121725 31121725 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr16:31121725G>A uc002eaw.3 + 7 863 c.547G>A c.(547-549)GAA>AAA p.E183K BCKDK_uc002eav.3_Missense_Mutation_p.E183K|BCKDK_uc010cah.2_RNA|BCKDK_uc010cai.2_Missense_Mutation_p.E183K NM_005881 NP_005872 O14874 BCKD_HUMAN branched chain ketoacid dehydrogenase kinase 183 Histidine kinase. branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation mitochondrial alpha-ketoglutarate dehydrogenase complex [3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|ATP binding|protein binding|protein serine/threonine kinase activity|two-component sensor activity stomach(1)|breast(1) 2 TTTACAGGATGAAAAGCTCGT 0.592 NA 20 59 0 0 0 0 PYCARD 29108 broad.mit.edu 37 16 31213943 31213943 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr16:31213943G>A uc010cak.2 - 1 309 c.69C>T c.(67-69)TTC>TTT p.F23F PYCARD_uc002ebm.2_Silent_p.F23F NM_013258 NP_037390 Q9ULZ3 ASC_HUMAN PYD and CARD domain containing isoform a 23 DAPIN. induction of apoptosis|positive regulation of interleukin-1 beta secretion|positive regulation of NF-kappaB transcription factor activity|proteolysis|tumor necrosis factor-mediated signaling pathway IkappaB kinase complex caspase activator activity|cysteine-type endopeptidase activity|protein homodimerization activity|Pyrin domain binding 0 GCTTCAGCTTGAACTTCTTGA 0.706 NA 8 42 0 0 0 0 KATNB1 10300 broad.mit.edu 37 16 57786709 57786709 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr16:57786709G>C uc002eml.1 + 10 1098 c.724G>C c.(724-726)GAC>CAC p.D242H NM_005886 NP_005877 Q9BVA0 KTNB1_HUMAN katanin p80 subunit B 1 242 WD 6.|Interaction with centrosomes.|Interaction with dynein (By similarity). cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting katanin complex|microtubule|spindle pole microtubule binding|protein heterodimerization activity 0 all_neural(199;0.223) CTTCAACCCAGACGGCTGCTG 0.657 NA 4 28 0 0 0 0 ELMO3 79767 broad.mit.edu 37 16 67237075 67237075 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr16:67237075G>C uc002esa.2 + 17 1931 c.1888G>C c.(1888-1890)GAC>CAC p.D630H ELMO3_uc002esb.2_Missense_Mutation_p.D613H|ELMO3_uc002esc.2_Missense_Mutation_p.D464H|uc010vjf.1_5'Flank|MIR328_hsa-mir-328|MI0000804_5'Flank NM_024712 NP_078988 Q96BJ8 ELMO3_HUMAN engulfment and cell motility 3 577 PH. apoptosis|phagocytosis cytoplasm|cytoskeleton SH3 domain binding 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417) GCAGTACGGAGACATGGAGGA 0.647 NA 10 26 0 0 0 0 TMCO7 79613 broad.mit.edu 37 16 68961608 68961608 + Silent SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr16:68961608C>A uc002ewi.3 + 13 2277 c.2265C>A c.(2263-2265)GCC>GCA p.A755A NM_024562 NP_078838 Q9C0B7 TMCO7_HUMAN transmembrane and coiled-coil domains 7 755 integral to membrane binding 0 Ovarian(137;0.0568) OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198) GAGCCTTTGCCACTGAGGCCG 0.502 NA 14 140 1.05e-09 1.13e-09 1 0 ZNF19 7567 broad.mit.edu 37 16 71512138 71512138 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr16:71512138G>A uc010cgc.1 - 5 773 c.267C>T c.(265-267)GTC>GTT p.V89V ZNF23_uc002fai.2_5'UTR|ZNF19_uc002fak.1_Silent_p.V77V|ZNF19_uc002fal.1_Silent_p.V77V|ZNF19_uc002fam.1_Silent_p.V89V NM_006961 NP_008892 P17023 ZNF19_HUMAN zinc finger protein 19 89 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Ovarian(137;0.00965) BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598) TACCTTTACAGACGTTTTTGG 0.448 NA 8 34 0 0 0 0 ATMIN 23300 broad.mit.edu 37 16 81078338 81078338 + Silent SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr16:81078338C>G uc002ffz.1 + 4 2253 c.2235C>G c.(2233-2235)GTC>GTG p.V745V ATMIN_uc002fga.2_Silent_p.V587V|ATMIN_uc010vnn.1_Silent_p.V516V|ATMIN_uc002fgb.1_Silent_p.V587V NM_015251 NP_056066 O43313 ATMIN_HUMAN ATM interactor 745 response to DNA damage stimulus nucleus zinc ion binding 0 CTGAAGGAGTCTCCACTGCTA 0.453 NA 10 97 0 0 0 0 GAN 8139 broad.mit.edu 37 16 81388253 81388253 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr16:81388253C>G uc002fgo.2 + 3 674 c.526C>G c.(526-528)CAA>GAA p.Q176E NM_022041 NP_071324 Q9H2C0 GAN_HUMAN gigaxonin 176 BACK. cell death cytoplasm|neurofilament protein binding ovary(2) 2 Colorectal(91;0.153) GCTGAGTCCTCAAAAGCTTAA 0.408 NA 21 50 0 0 0 0 CDH13 1012 broad.mit.edu 37 16 83636065 83636065 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr16:83636065G>C uc002fgx.2 + 8 1087 c.967G>C c.(967-969)GAA>CAA p.E323Q CDH13_uc010vns.1_Missense_Mutation_p.E370Q|CDH13_uc010vnt.1_Missense_Mutation_p.E69Q|CDH13_uc010vnu.1_Missense_Mutation_p.E284Q NM_001257 NP_001248 P55290 CAD13_HUMAN cadherin 13 preproprotein 323 Cadherin 2. adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding large_intestine(1) 1 all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09) COAD - Colon adenocarcinoma(5;0.0268) GTAGACTCTGGAAAATCCCAA 0.463 NA 67 241 0 0 0 0 FANCA 2175 broad.mit.edu 37 16 89858379 89858379 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr16:89858379G>C uc002fou.1 - 13 1223 c.1181C>G c.(1180-1182)TCT>TGT p.S394C FANCA_uc010vpn.1_Missense_Mutation_p.S394C NM_000135 NP_000126 O15360 FANCA_HUMAN Fanconi anemia, complementation group A isoform 394 DNA repair|protein complex assembly cytoplasm|nucleoplasm protein binding ovary(2)|breast(2)|central_nervous_system(1)|skin(1) 6 Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.028) AACCAGGGCAGACACAAAGGA 0.552 NA D|Mis|N|F|S AML|leukemia Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 15 48 0 0 0 0 SPIRE2 84501 broad.mit.edu 37 16 89930015 89930015 + Silent SNP G G T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr16:89930015G>T uc002foz.1 + 11 1759 c.1707G>T c.(1705-1707)GGG>GGT p.G569G SPIRE2_uc010ciw.1_Silent_p.G569G|SPIRE2_uc002fpa.1_Silent_p.G521G|SPIRE2_uc010cix.1_Silent_p.G436G NM_032451 NP_115827 Q8WWL2 SPIR2_HUMAN spire homolog 2 569 transport cytoplasm|cytoskeleton actin binding central_nervous_system(1) 1 Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0286) TGAAGAAGGGGAAGGTGAGGC 0.587 NA 12 60 3.07e-06 3.24e-06 1 0 ZZEF1 23140 broad.mit.edu 37 17 4009037 4009037 + Silent SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr17:4009037G>C uc002fxe.2 - 7 1408 c.1344C>G c.(1342-1344)CTC>CTG p.L448L ZZEF1_uc002fxk.1_Silent_p.L448L NM_015113 NP_055928 O43149 ZZEF1_HUMAN zinc finger, ZZ type with EF hand domain 1 448 calcium ion binding|zinc ion binding ovary(2)|central_nervous_system(1)|pancreas(1) 4 CATTAGGGGAGAGGAAAGTTG 0.453 NA 15 40 0 0 0 0 XAF1 54739 broad.mit.edu 37 17 6665494 6665494 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr17:6665494G>A uc002gdn.2 + 5 684 c.442G>A c.(442-444)GAA>AAA p.E148K XAF1_uc002gdm.1_Missense_Mutation_p.E88K|XAF1_uc002gdo.2_Missense_Mutation_p.E129K|XAF1_uc002gdp.2_Intron|XAF1_uc002gdq.2_5'UTR|XAF1_uc002gdr.2_Intron NM_017523 NP_059993 Q6GPH4 XAF1_HUMAN XIAP associated factor 1 isoform 1 148 apoptosis|type I interferon-mediated signaling pathway mitochondrion|nucleus zinc ion binding 0 TTCAGCTCCTGAAAGGGAAAT 0.408 NA 12 19 0 0 0 0 PHF23 79142 broad.mit.edu 37 17 7139717 7139717 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr17:7139717G>A uc002gfa.2 - 4 756 c.529C>T c.(529-531)CCT>TCT p.P177S DVL2_uc002gez.1_5'Flank|DVL2_uc010vtr.1_5'Flank|DVL2_uc010clz.1_5'Flank|PHF23_uc010vtt.1_Missense_Mutation_p.P110S|PHF23_uc010cma.2_Missense_Mutation_p.P47S NM_024297 NP_077273 Q9BUL5 PHF23_HUMAN PHD finger protein 23 177 zinc ion binding 0 TTTCGAGGAGGATGGGAGAGG 0.632 NA 21 49 0 0 0 0 KDM6B 23135 broad.mit.edu 37 17 7752328 7752328 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr17:7752328C>T uc002giw.1 + 11 3098 c.2722C>T c.(2722-2724)CGC>TGC p.R908C KDM6B_uc002gix.2_Missense_Mutation_p.R210C NM_001080424 NP_001073893 O15054 KDM6B_HUMAN lysine (K)-specific demethylase 6B 908 inflammatory response nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen central_nervous_system(1)|pancreas(1) 2 GCCCCCTGCTCGCTCTGAGTC 0.711 NA 6 11 0 0 0 0 RICH2 9912 broad.mit.edu 37 17 12823101 12823101 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr17:12823101G>A uc002gnr.3 + 6 744 c.417G>A c.(415-417)AGG>AGA p.R139R RICH2_uc010vvk.1_Silent_p.R139R|RICH2_uc010vvl.1_Silent_p.R139R|RICH2_uc002gns.3_5'UTR|RICH2_uc010vvm.1_Silent_p.R139R|RICH2_uc010vvn.1_RNA NM_014859 NP_055674 Q17R89 RHG44_HUMAN Rho GTPase-activating protein RICH2 139 BAR. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity 0 AAAAGCAGAGGAAACACTTAG 0.368 NA 3 12 0 0 0 0 RASD1 51655 broad.mit.edu 37 17 17398763 17398763 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr17:17398763G>A uc002gri.2 - 2 734 c.522C>T c.(520-522)TTC>TTT p.F174F NM_016084 NP_057168 Q9Y272 RASD1_HUMAN RAS, dexamethasone-induced 1 precursor 174 G-protein coupled receptor protein signaling pathway|small GTPase mediated signal transduction nucleus|perinuclear region of cytoplasm|plasma membrane GTP binding|GTPase activity 0 CCGAGATCTCGAAGTAGGCGC 0.647 NA 5 9 0 0 0 0 ATPAF2 91647 broad.mit.edu 37 17 17921887 17921887 + Silent SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr17:17921887G>C uc002gse.1 - 8 999 c.846C>G c.(844-846)GTC>GTG p.V282V ATPAF2_uc002gsd.1_Intron|ATPAF2_uc002gsf.1_RNA NM_145691 NP_663729 Q8N5M1 ATPF2_HUMAN ATP synthase mitochondrial F1 complex assembly 282 proton-transporting ATP synthase complex assembly mitochondrion|nuclear speck protein binding 0 all_neural(463;0.228) GCTTGTGCTTGACTGTGGTGC 0.642 NA 25 74 0 0 0 0 UNC119 9094 broad.mit.edu 37 17 26879514 26879514 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr17:26879514G>A uc002hbk.2 - 1 133 c.62C>T c.(61-63)TCG>TTG p.S21L UNC119_uc002hbm.2_Missense_Mutation_p.S21L NM_005148 NP_005139 Q13432 U119A_HUMAN unc119 (C.elegans) homolog isoform a 21 phototransduction|synaptic transmission|visual perception cytosol|soluble fraction 0 Lung NSC(42;0.00431) GCTCTGGCCCGAGGGCCCCGG 0.761 NA 3 9 0 0 0 0 SUPT6H 6830 broad.mit.edu 37 17 27001375 27001375 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr17:27001375G>C uc002hby.2 + 3 274 c.184G>C c.(184-186)GAT>CAT p.D62H SUPT6H_uc010crt.2_Missense_Mutation_p.D62H NM_003170 NP_003161 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog 62 Asp/Glu-rich. DDDEDEGEEDEGS -> ATAPGHPKLSEGR (in Ref. 1; AAC50821). chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|skin(1) 3 Lung NSC(42;0.00431) CAATGACGATGATGATGAAGA 0.473 NA 10 27 0 0 0 0 PHF12 57649 broad.mit.edu 37 17 27244465 27244465 + Silent SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr17:27244465C>G uc002hdg.1 - 7 1502 c.972G>C c.(970-972)CTG>CTC p.L324L PHF12_uc010wbb.1_Silent_p.L306L|PHF12_uc002hdi.1_Silent_p.L320L|PHF12_uc002hdj.1_Silent_p.L324L|PHF12_uc010crw.1_Silent_p.L27L|PHF12_uc002hdh.1_Silent_p.L107L NM_001033561 NP_001028733 Q96QT6 PHF12_HUMAN PHD finger protein 12 isoform 1 324 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) TCTTCTGGTTCAGCTAGGGAC 0.493 NA 11 47 0 0 0 0 CPD 1362 broad.mit.edu 37 17 28789469 28789469 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr17:28789469C>G uc002hfb.1 + 20 3913 c.3898C>G c.(3898-3900)CTT>GTT p.L1300V CPD_uc010wbo.1_Missense_Mutation_p.L1053V|CPD_uc010wbp.1_RNA NM_001304 NP_001295 O75976 CBPD_HUMAN carboxypeptidase D precursor 1300 Helical; (Potential). proteolysis integral to membrane metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding liver(1)|skin(1) 2 GCCAAGGGAGCTTGTGGTAAC 0.373 NA 20 49 0 0 0 0 LRRC37B 114659 broad.mit.edu 37 17 30376383 30376383 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr17:30376383G>C uc002hgu.2 + 10 2657 c.2646G>C c.(2644-2646)CAG>CAC p.Q882H LRRC37B_uc010wbx.1_Missense_Mutation_p.Q800H|LRRC37B_uc010csu.2_Missense_Mutation_p.Q831H NM_052888 NP_443120 Q96QE4 LR37B_HUMAN leucine rich repeat containing 37B precursor 882 Potential.|Extracellular (Potential). integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244) ACATGGAACAGAATGAACAGA 0.433 NA 4 9 0 0 0 0 CCL2 6347 broad.mit.edu 37 17 32583786 32583786 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr17:32583786G>C uc002hhy.2 + 3 313 c.240G>C c.(238-240)CAG>CAC p.Q80H NM_002982 NP_002973 P13500 CCL2_HUMAN small inducible cytokine A2 precursor 80 Missing: 90% reduction in activity.|Missing: 83% reduction in activity. angiogenesis|anti-apoptosis|apoptotic cell clearance|astrocyte cell migration|cell adhesion|cellular response to interferon-gamma|cellular response to interleukin-1|cellular response to lipopolysaccharide|cellular response to tumor necrosis factor|G-protein signaling, coupled to cyclic nucleotide second messenger|helper T cell extravasation|humoral immune response|inflammatory response|JAK-STAT cascade|macrophage chemotaxis|monocyte chemotaxis|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of T cell activation|viral genome replication extracellular space CCR2 chemokine receptor binding|chemokine activity|protein kinase activity|signal transducer activity pancreas(1) 1 Breast(3;0.00224) Ovarian(249;0.0694)|Breast(31;0.151)|Lung NSC(157;0.153) UCEC - Uterine corpus endometrioid carcinoma (308;0.000241)|BRCA - Breast invasive adenocarcinoma(366;0.0103) Atorvastatin(DB01076)|Danazol(DB01406)|Mimosine(DB01055)|Simvastatin(DB00641) ACCCCAAGCAGAAGTGGGTTC 0.488 NA 20 38 0 0 0 0 GPR179 440435 broad.mit.edu 37 17 36499096 36499096 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr17:36499096C>T uc002hpz.2 - 1 598 c.577G>A c.(577-579)GAC>AAC p.D193N NM_001004334 NP_001004334 Q6PRD1 GP179_HUMAN GPR158-like 1 precursor 193 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3) 3 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) GCAGGGGTGTCCAGGTCCCCA 0.637 NA 18 77 0 0 0 0 PGAP3 93210 broad.mit.edu 37 17 37842184 37842184 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr17:37842184G>A uc002hsj.2 - 2 313 c.270C>T c.(268-270)TTC>TTT p.F90F ERBB2_uc002hsm.2_5'Flank|ERBB2_uc010cwa.2_5'Flank|PGAP3_uc010cvy.2_5'Flank|PGAP3_uc010wej.1_Silent_p.F90F|PGAP3_uc002hsk.2_Silent_p.F90F|PGAP3_uc010cvz.2_Silent_p.F90F|ERBB2_uc002hsl.2_5'Flank NM_033419 NP_219487 Q96FM1 PGAP3_HUMAN per1-like domain containing 1 precursor 90 Lumenal (Potential). GPI anchor biosynthetic process Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane hydrolase activity, acting on ester bonds upper_aerodigestive_tract(1) 1 CCTTGCCATGGAACTGAGGCA 0.537 NA 6 32 0 0 0 0 WNK4 65266 broad.mit.edu 37 17 40936541 40936541 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr17:40936541G>C uc002ibj.2 + 4 1135 c.1114G>C c.(1114-1116)GAG>CAG p.E372Q WNK4_uc010wgx.1_Silent_p.L65L|WNK4_uc002ibk.1_Missense_Mutation_p.E144Q|WNK4_uc010wgy.1_5'Flank NM_032387 NP_115763 Q96J92 WNK4_HUMAN WNK lysine deficient protein kinase 4 372 Protein kinase. intracellular protein kinase cascade tight junction ATP binding|protein serine/threonine kinase activity ovary(3)|skin(3)|stomach(1) 7 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0749) GGCCACCTCTGAGTACCCGTA 0.597 NA 6 36 0 0 0 0 HOXB7 3217 broad.mit.edu 37 17 46685395 46685395 + Nonsense_Mutation SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr17:46685395C>A uc002inv.2 - 2 566 c.463G>T c.(463-465)GAA>TAA p.E155* NM_004502 NP_004493 P09629 HXB7_HUMAN homeobox B7 155 Homeobox. nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 TAGTGAAATTCTTTCTCCAGC 0.542 NA 29 90 7.26e-15 7.85e-15 1 0 CACNA1G 8913 broad.mit.edu 37 17 48683370 48683370 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr17:48683370G>C uc002irk.1 + 23 4780 c.4408G>C c.(4408-4410)GAC>CAC p.D1470H CACNA1G_uc002iri.1_Missense_Mutation_p.D1470H|CACNA1G_uc002irj.1_Missense_Mutation_p.D1447H|CACNA1G_uc002irl.1_Missense_Mutation_p.D1447H|CACNA1G_uc002irm.1_Missense_Mutation_p.D1447H|CACNA1G_uc002irn.1_Missense_Mutation_p.D1447H|CACNA1G_uc002iro.1_Missense_Mutation_p.D1447H|CACNA1G_uc002irp.1_Missense_Mutation_p.D1470H|CACNA1G_uc002irq.1_Missense_Mutation_p.D1447H|CACNA1G_uc002irr.1_Missense_Mutation_p.D1470H|CACNA1G_uc002irs.1_Missense_Mutation_p.D1470H|CACNA1G_uc002irt.1_Missense_Mutation_p.D1470H|CACNA1G_uc002irv.1_Missense_Mutation_p.D1470H|CACNA1G_uc002irw.1_Missense_Mutation_p.D1447H|CACNA1G_uc002iru.1_Missense_Mutation_p.D1447H|CACNA1G_uc002irx.1_Missense_Mutation_p.D1383H|CACNA1G_uc002iry.1_Missense_Mutation_p.D1383H|CACNA1G_uc002irz.1_Missense_Mutation_p.D1383H|CACNA1G_uc002isa.1_Missense_Mutation_p.D1383H|CACNA1G_uc002isb.1_Missense_Mutation_p.D1383H|CACNA1G_uc002isc.1_Missense_Mutation_p.D1383H|CACNA1G_uc002isd.1_Missense_Mutation_p.D1383H|CACNA1G_uc002ise.1_Missense_Mutation_p.D1383H|CACNA1G_uc002isf.1_Missense_Mutation_p.D1383H|CACNA1G_uc002isg.1_Missense_Mutation_p.D1383H|CACNA1G_uc002ish.1_Missense_Mutation_p.D1383H|CACNA1G_uc002isi.1_Missense_Mutation_p.D1360H|CACNA1G_uc002isj.2_Missense_Mutation_p.D194H NM_018896 NP_061496 O43497 CAC1G_HUMAN voltage-dependent calcium channel alpha 1G 1470 Extracellular (Potential).|III. axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(1) 1 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) GTACAACTTTGACAACCTTGG 0.587 NA 21 61 0 0 0 0 CACNA1G 8913 broad.mit.edu 37 17 48684289 48684289 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr17:48684289C>G uc002irk.1 + 24 4823 c.4451C>G c.(4450-4452)TCC>TGC p.S1484C CACNA1G_uc002irj.1_Missense_Mutation_p.S1461C|CACNA1G_uc002irl.1_Missense_Mutation_p.S1461C|CACNA1G_uc002irm.1_Missense_Mutation_p.S1461C|CACNA1G_uc002irn.1_Missense_Mutation_p.S1461C|CACNA1G_uc002iro.1_Missense_Mutation_p.S1461C|CACNA1G_uc002irp.1_Missense_Mutation_p.S1484C|CACNA1G_uc002irq.1_Missense_Mutation_p.S1461C|CACNA1G_uc002irr.1_Missense_Mutation_p.S1484C|CACNA1G_uc002irs.1_Missense_Mutation_p.S1484C|CACNA1G_uc002irt.1_Missense_Mutation_p.S1484C|CACNA1G_uc002irv.1_Missense_Mutation_p.S1484C|CACNA1G_uc002irw.1_Missense_Mutation_p.S1461C|CACNA1G_uc002iru.1_Missense_Mutation_p.S1461C|CACNA1G_uc002irx.1_Missense_Mutation_p.S1397C|CACNA1G_uc002iry.1_Missense_Mutation_p.S1397C|CACNA1G_uc002irz.1_Missense_Mutation_p.S1397C|CACNA1G_uc002isa.1_Missense_Mutation_p.S1397C|CACNA1G_uc002isb.1_Missense_Mutation_p.S1397C|CACNA1G_uc002isc.1_Missense_Mutation_p.S1397C|CACNA1G_uc002isd.1_Missense_Mutation_p.S1397C|CACNA1G_uc002ise.1_Missense_Mutation_p.S1397C|CACNA1G_uc002isf.1_Missense_Mutation_p.S1397C|CACNA1G_uc002isg.1_Missense_Mutation_p.S1397C|CACNA1G_uc002ish.1_Missense_Mutation_p.S1397C|CACNA1G_uc002isi.1_Missense_Mutation_p.S1374C|CACNA1G_uc002isj.2_Missense_Mutation_p.S208C NM_018896 NP_061496 O43497 CAC1G_HUMAN voltage-dependent calcium channel alpha 1G 1484 Extracellular (Potential).|III. axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(1) 1 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) GTTTTGGCCTCCAAGGATGGT 0.577 NA 16 41 0 0 0 0 OR4D2 124538 broad.mit.edu 37 17 56247319 56247319 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr17:56247319C>G uc010wnp.1 + 1 303 c.303C>G c.(301-303)ATC>ATG p.I101M NM_001004707 NP_001004707 P58180 OR4D2_HUMAN olfactory receptor, family 4, subfamily D, 101 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 TGGGTCAGATCTTCTTCTTCC 0.527 NA 10 121 0 0 0 0 CACNG4 27092 broad.mit.edu 37 17 65026887 65026887 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr17:65026887G>A uc002jft.1 + 4 766 c.751G>A c.(751-753)GAG>AAG p.E251K NM_014405 NP_055220 Q9UBN1 CCG4_HUMAN voltage-dependent calcium channel gamma-4 251 Cytoplasmic (Potential). membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane voltage-gated calcium channel activity central_nervous_system(1) 1 all_cancers(12;9.86e-11) BRCA - Breast invasive adenocarcinoma(6;1.35e-07) AAGGTCCACCGAGGCCTCGCC 0.632 NA 24 58 0 0 0 0 FAM20A 54757 broad.mit.edu 37 17 66548055 66548055 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr17:66548055C>T uc002jho.2 - 4 966 c.678G>A c.(676-678)CTG>CTA p.L226L FAM20A_uc010wqp.1_Silent_p.L88L|FAM20A_uc002jhn.2_5'UTR NM_017565 NP_060035 Q96MK3 FA20A_HUMAN family with sequence similarity 20, member A 226 extracellular region 0 Breast(10;1.64e-13) CCGAGAACCTCAGCACCAGCT 0.552 NA 3 3 0 0 0 0 EVPL 2125 broad.mit.edu 37 17 74018542 74018542 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr17:74018542C>T uc002jqi.2 - 5 786 c.558G>A c.(556-558)CAG>CAA p.Q186Q EVPL_uc010wss.1_Silent_p.Q186Q|EVPL_uc010wst.1_5'UTR NM_001988 NP_001979 Q92817 EVPL_HUMAN envoplakin 186 Globular 1. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity pancreas(2)|central_nervous_system(1)|skin(1) 4 CGATCTCCTTCTGCAGGATGT 0.672 NA 3 44 0 0 0 0 DNAH17 8632 broad.mit.edu 37 17 76455098 76455098 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr17:76455098G>A uc010dhp.1 - 6 1068 c.846C>T c.(844-846)ATC>ATT p.I282I DNAH17_uc002jvs.2_RNA SubName: Full=DNAH17 variant protein; Flags: Fragment; ovary(6)|breast(2)|skin(1) 9 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) TCTTGTTTTTGATCCGGGACA 0.582 NA 21 61 0 0 0 0 DNAH17 8632 broad.mit.edu 37 17 76455962 76455962 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr17:76455962G>A uc010dhp.1 - 5 779 c.557C>T c.(556-558)GCG>GTG p.A186V DNAH17_uc002jvs.2_RNA SubName: Full=DNAH17 variant protein; Flags: Fragment; ovary(6)|breast(2)|skin(1) 9 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) GATCTTGGCCGCCTTCCAGCT 0.592 NA 41 34 0 0 0 0 RNF213 57674 broad.mit.edu 37 17 78358943 78358943 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr17:78358943C>T uc002jyh.1 + 35 8869 c.8646C>T c.(8644-8646)ATC>ATT p.I2882I uc002jyi.1_Intron|RNF213_uc010dhx.1_5'Flank NM_020914 NP_065965 Q9HCF4 ALO17_HUMAN ring finger protein 213 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1) 21 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) ACAGCTCCATCAGAGGCTTCC 0.532 NA 11 44 0 0 0 0 NPLOC4 55666 broad.mit.edu 37 17 79563226 79563226 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr17:79563226C>G uc002kat.3 - 11 1218 c.1036G>C c.(1036-1038)GAC>CAC p.D346H NPLOC4_uc002kau.3_Missense_Mutation_p.D346H|NPLOC4_uc010wur.1_Missense_Mutation_p.D185H NM_017921 NP_060391 Q8TAT6 NPL4_HUMAN nuclear protein localization 4 346 cellular membrane fusion|ER-associated protein catabolic process|Golgi organization cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus zinc ion binding ovary(1)|central_nervous_system(1) 2 all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739) TTCTGGAAGTCTCCTGCAGTG 0.443 NA 24 59 0 0 0 0 P4HB 5034 broad.mit.edu 37 17 79813047 79813047 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr17:79813047C>G uc002kbn.1 - 4 792 c.595G>C c.(595-597)GAC>CAC p.D199H P4HB_uc002kbm.1_5'UTR NM_000918 NP_000909 P07237 PDIA1_HUMAN prolyl 4-hydroxylase, beta subunit precursor 199 cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity 0 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509) CCATCTTTGTCGAGCTGGTAT 0.542 NA 65 197 0 0 0 0 NOTUM 147111 broad.mit.edu 37 17 79916266 79916266 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr17:79916266G>A uc010wvg.1 - 5 809 c.537C>T c.(535-537)TTC>TTT p.F179F NM_178493 NP_848588 Q6P988 NOTUM_HUMAN notum pectinacetylesterase homolog precursor 179 extracellular region hydrolase activity 0 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) AGTAGGGGATGAAGCTGCAAC 0.502 NA 11 44 0 0 0 0 FASN 2194 broad.mit.edu 37 17 80044282 80044282 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr17:80044282G>C uc002kdu.2 - 22 3697 c.3580C>G c.(3580-3582)CTG>GTG p.L1194V FASN_uc002kdw.1_Missense_Mutation_p.L410V NM_004104 NP_004095 P49327 FAS_HUMAN fatty acid synthase 1194 energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process cytosol|Golgi apparatus|melanosome|plasma membrane 3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding central_nervous_system(1) 1 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237) Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339) TCCAGCTGCAGGTTCCCGTTG 0.697 NA 12 27 0 0 0 0 C17orf62 79415 broad.mit.edu 37 17 80405459 80405459 + Missense_Mutation SNP C C T rs142773924 TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr17:80405459C>T uc002kez.2 - 2 172 c.124G>A c.(124-126)GGA>AGA p.G42R C17orf62_uc002kex.2_5'Flank|C17orf62_uc002key.2_5'UTR|C17orf62_uc002kfa.2_Missense_Mutation_p.G42R|C17orf62_uc010dir.2_Missense_Mutation_p.G42R|C17orf62_uc002kfb.3_Missense_Mutation_p.G42R|C17orf62_uc002kfc.3_Intron|C17orf62_uc002kfd.3_5'UTR|C17orf62_uc002kfe.3_Intron|C17orf62_uc010dis.1_Missense_Mutation_p.G42R NM_001100407 NP_001093877 Q9BQA9 CQ062_HUMAN hypothetical protein LOC79415 isoform a 42 Helical; (Potential). integral to membrane protein binding 0 Breast(20;0.00106)|all_neural(118;0.0804) OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369) GCTTTACCTCCGCTGTAGTAG 0.542 NA 4 14 0 0 0 0 IMPA2 3613 broad.mit.edu 37 18 12028874 12028874 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr18:12028874C>T uc002kqp.1 + 7 847 c.633C>T c.(631-633)CTC>CTT p.L211L IMPA2_uc002kqo.1_Silent_p.L22L|IMPA2_uc002kqq.1_Silent_p.L91L NM_014214 NP_055029 O14732 IMPA2_HUMAN inositol(myo)-1(or 4)-monophosphatase 2 211 inositol phosphate dephosphorylation|signal transduction cytoplasm inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity skin(2) 2 Lithium(DB01356) CATTGGCACTCTGCCACCTGG 0.617 NA 42 63 0 0 0 0 MIB1 57534 broad.mit.edu 37 18 19429231 19429231 + Nonsense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr18:19429231C>G uc002ktq.2 + 17 2468 c.2468C>G c.(2467-2469)TCA>TGA p.S823* MIB1_uc002ktp.2_Nonsense_Mutation_p.S462* NM_020774 NP_065825 Q86YT6 MIB1_HUMAN mindbomb homolog 1 823 RING-type 1. Notch signaling pathway centrosome|nuclear membrane|plasma membrane ubiquitin-protein ligase activity|zinc ion binding ovary(4) 4 STAD - Stomach adenocarcinoma(5;0.212) ATGGTGTGCTCAGATATGAAG 0.378 NA 50 127 0 0 0 0 GATA6 2627 broad.mit.edu 37 18 19761413 19761413 + Splice_Site SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr18:19761413G>A uc002ktt.1 + 4 1568 c.1303_splice c.e4-1 p.P435_splice GATA6_uc002ktu.1_Splice_Site_p.P435_splice NM_005257 NP_005248 Q92908 GATA6_HUMAN GATA binding protein 6 blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(3) 3 all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246) STAD - Stomach adenocarcinoma(5;0.106) ACTGTTTCTAGCCTTCATCAC 0.418 NA 11 44 0 0 0 0 LAMA3 3909 broad.mit.edu 37 18 21404467 21404467 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr18:21404467G>C uc002kuq.2 + 21 2595 c.2509G>C c.(2509-2511)GAC>CAC p.D837H LAMA3_uc002kur.2_Missense_Mutation_p.D837H NM_198129 NP_937762 Q16787 LAMA3_HUMAN laminin alpha 3 subunit isoform 1 837 Domain IV 1 (domain IV B). cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|skin(2)|central_nervous_system(1) 11 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGGTTTTGCAGACCCATTTTC 0.458 NA 31 75 0 0 0 0 DYM 54808 broad.mit.edu 37 18 46906126 46906126 + Nonsense_Mutation SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr18:46906126C>A uc002ldi.1 - 4 561 c.196G>T c.(196-198)GAA>TAA p.E66* DYM_uc010xdf.1_Intron NM_017653 NP_060123 Q7RTS9 DYM_HUMAN dymeclin 66 E -> K (in Ref. 2; BAC11088). Golgi apparatus 0 GGATTGTTTTCAACTGCAAGA 0.303 NA 15 42 2.32e-05 2.42e-05 1 0 RTTN 25914 broad.mit.edu 37 18 67801735 67801735 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr18:67801735G>A uc002lkp.2 - 23 2996 c.2928C>T c.(2926-2928)TTC>TTT p.F976F RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Silent_p.F64F NM_173630 NP_775901 Q86VV8 RTTN_HUMAN rotatin 976 binding ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1) 8 Esophageal squamous(42;0.129) CAGGCAAACTGAAGACCGATG 0.323 NA 12 28 0 0 0 0 MED16 10025 broad.mit.edu 37 19 873569 873569 + Silent SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr19:873569G>C uc002lqd.1 - 11 1936 c.1785C>G c.(1783-1785)GTC>GTG p.V595V MED16_uc010drw.1_Silent_p.V420V|MED16_uc002lqe.2_Silent_p.V584V|MED16_uc002lqf.2_Silent_p.V584V|MED16_uc010xfv.1_RNA|MED16_uc010xfw.1_Silent_p.V515V|MED16_uc010xfx.1_Silent_p.V440V|MED16_uc010xfy.1_Silent_p.V172V|MED16_uc010xfz.1_RNA NM_005481 NP_005472 Q9Y2X0 MED16_HUMAN mediator complex subunit 16 595 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding 0 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) 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) GGTTGATCATGACCTTGTCAA 0.572 NA 21 33 0 0 0 0 STK11 6794 broad.mit.edu 37 19 1220487 1220487 + Missense_Mutation SNP G G A rs121913315 TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr19:1220487G>A uc002lrl.1 + 4 1695 c.580G>A c.(580-582)GAC>AAC p.D194N NM_000455 NP_000446 Q15831 STK11_HUMAN serine/threonine protein kinase 11 194 Protein kinase. D -> V (in lung cancer; somatic mutation).|D -> Y (in melanoma; sporadic malignant; somatic mutation).|D -> N (in PJS). D->A: Loss of kinase activity. anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(19)|p.D194Y(6)|p.Y156fs*87(4)|p.?(3)|p.D194N(3)|p.D194fs*93(1)|p.D194V(1) lung(174)|cervix(35)|skin(15)|large_intestine(12)|pancreas(6)|gastrointestinal_tract_(site_indeterminate)(5)|stomach(4)|ovary(4)|breast(2)|upper_aerodigestive_tract(1)|testis(1)|liver(1)|biliary_tract(1)|small_intestine(1)|urinary_tract(1)|oesophagus(1)|prostate(1)|kidney(1) 266 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137) 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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) CAAAATCTCCGACCTGGGCGT 0.677 D194N(ALEXANDERCELLS_LIVER)|D194N(PLCPRF5_LIVER) 14 D|Mis|N|F|S NSCLC|pancreatic jejunal harmartoma|ovarian|testicular|pancreatic Peutz-Jeghers_syndrome TSP Lung(3;<1E-08) 4 6 0 0 0 0 STK11 6794 broad.mit.edu 37 19 1221279 1221279 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr19:1221279G>A uc002lrl.1 + 6 1917 c.802G>A c.(802-804)GGG>AGG p.G268R NM_000455 NP_000446 Q15831 STK11_HUMAN serine/threonine protein kinase 11 268 Protein kinase. anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(19)|p.?(2)|p.Y246fs*3(1) lung(174)|cervix(35)|skin(15)|large_intestine(12)|pancreas(6)|gastrointestinal_tract_(site_indeterminate)(5)|stomach(4)|ovary(4)|breast(2)|upper_aerodigestive_tract(1)|testis(1)|liver(1)|biliary_tract(1)|small_intestine(1)|urinary_tract(1)|oesophagus(1)|prostate(1)|kidney(1) 266 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137) 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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) TGAGAACATCGGGAAGGGGAG 0.607 14 D|Mis|N|F|S NSCLC|pancreatic jejunal harmartoma|ovarian|testicular|pancreatic Peutz-Jeghers_syndrome TSP Lung(3;<1E-08) 5 8 0 0 0 0 MBD3 53615 broad.mit.edu 37 19 1585105 1585105 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr19:1585105C>T uc002ltl.1 - 2 241 c.219G>A c.(217-219)AAG>AAA p.K73K MBD3_uc002ltj.2_Silent_p.K73K|MBD3_uc002ltk.2_Silent_p.K41K NM_003926 NP_003917 O95983 MBD3_HUMAN methyl-CpG binding domain protein 3 73 transcription, DNA-dependent NuRD complex DNA binding|protein binding ovary(1)|pancreas(1)|skin(1) 3 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) 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)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18) TCTTGTTCATCTTGCTCATCA 0.647 NA 6 25 0 0 0 0 MUC16 94025 broad.mit.edu 37 19 9000195 9000195 + Missense_Mutation SNP T T C rs150399289 by1000genomes TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr19:9000195T>C uc002mkp.2 - 55 40766 c.40562A>G c.(40561-40563)AAC>AGC p.N13521S MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.N338S|MUC16_uc010xki.1_RNA NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 13523 SEA 10.|Extracellular (Potential). Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 AACACTGGTGTTCTTGAACAC 0.567 NA 30 39 0 0 0 0 MUC16 94025 broad.mit.edu 37 19 9011341 9011341 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr19:9011341C>T uc002mkp.2 - 36 39096 c.38892G>A c.(38890-38892)AGG>AGA p.R12964R MUC16_uc010xki.1_Intron NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 12966 SEA 6.|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 AGAGACTGTTCCTGTCCAGGG 0.547 NA 49 150 0 0 0 0 MUC16 94025 broad.mit.edu 37 19 9047213 9047213 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr19:9047213G>A uc002mkp.2 - 5 34622 c.34418C>T c.(34417-34419)ACA>ATA p.T11473I NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 11475 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 TGGGAAAGTTGTAGTGCTGTC 0.507 NA 30 57 0 0 0 0 SPC24 147841 broad.mit.edu 37 19 11266370 11266370 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr19:11266370C>G uc002mql.2 - 1 115 c.83G>C c.(82-84)CGA>CCA p.R28P SPC24_uc010xlp.1_Missense_Mutation_p.R28P NM_182513 NP_872319 Q8NBT2 SPC24_HUMAN spindle pole body component 24 homolog 28 Interaction with the NDC80-CDCA1 subcomplex.|Interaction with the N-terminus of SPBC25. cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus protein binding 0 CAGCAGCCGTCGCTGCTGCGC 0.701 NA 3 10 0 0 0 0 ZNF700 90592 broad.mit.edu 37 19 12060474 12060474 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr19:12060474C>T uc002msu.2 + 4 1761 c.1635C>T c.(1633-1635)TTC>TTT p.F545F ZNF700_uc010xme.1_Silent_p.F563F|ZNF763_uc010xmf.1_Intron NM_144566 NP_653167 Q9H0M5 ZN700_HUMAN zinc finger protein 700 545 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GTAAAGCCTTCAGATGTTGCA 0.423 NA 17 61 0 0 0 0 NACC1 112939 broad.mit.edu 37 19 13247198 13247198 + Nonsense_Mutation SNP G G T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr19:13247198G>T uc002mwm.2 + 3 1267 c.1099G>T c.(1099-1101)GAG>TAG p.E367* NM_052876 NP_443108 Q96RE7 NACC1_HUMAN transcriptional repressor NAC1 367 negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent cytoplasm|nuclear body 0 CGACCCCTCTGAGAAGCTGGA 0.612 NA 14 51 4.15e-12 4.47e-12 1 0 NACC1 112939 broad.mit.edu 37 19 13247207 13247207 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr19:13247207G>C uc002mwm.2 + 3 1276 c.1108G>C c.(1108-1110)GAG>CAG p.E370Q NM_052876 NP_443108 Q96RE7 NACC1_HUMAN transcriptional repressor NAC1 370 negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent cytoplasm|nuclear body 0 TGAGAAGCTGGAGCTGGTGAC 0.582 NA 12 46 0 0 0 0 C19orf57 79173 broad.mit.edu 37 19 14000824 14000824 + Nonsense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr19:14000824G>C uc002mxl.1 - 6 904 c.845C>G c.(844-846)TCA>TGA p.S282* C19orf57_uc002mxk.1_Nonsense_Mutation_p.S164*|C19orf57_uc002mxm.1_Intron NM_024323 NP_077299 Q0VDD7 CS057_HUMAN hypothetical protein LOC79173 282 multicellular organismal development protein binding ovary(2)|upper_aerodigestive_tract(1) 3 OV - Ovarian serous cystadenocarcinoma(19;2e-21) GGTAGGAGCTGATGCTGGGGT 0.711 NA 6 42 0 0 0 0 CC2D1A 54862 broad.mit.edu 37 19 14020719 14020719 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr19:14020719C>T uc002mxo.2 + 2 443 c.144C>T c.(142-144)TTC>TTT p.F48F CC2D1A_uc002mxn.2_Missense_Mutation_p.S8F|CC2D1A_uc002mxp.2_Silent_p.F48F NM_017721 NP_060191 Q6P1N0 C2D1A_HUMAN coiled-coil and C2 domain containing 1A 48 positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus|plasma membrane DNA binding|signal transducer activity 0 OV - Ovarian serous cystadenocarcinoma(19;3.49e-23) AGGCTGAGTTCTTGGCTTTGG 0.522 NA 20 67 0 0 0 0 SYDE1 85360 broad.mit.edu 37 19 15222217 15222217 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr19:15222217G>A uc002nah.1 + 5 1415 c.1384G>A c.(1384-1386)GAG>AAG p.E462K SYDE1_uc002nai.1_Missense_Mutation_p.E395K|SYDE1_uc002naj.1_Missense_Mutation_p.E119K NM_033025 NP_149014 Q6ZW31 SYDE1_HUMAN synapse defective 1, Rho GTPase, homolog 1 462 Rho-GAP. activation of Rho GTPase activity|small GTPase mediated signal transduction cytosol Rho GTPase activator activity ovary(1)|pancreas(1) 2 CTGCCTATCTGAGGACCTGTA 0.592 NA 4 56 0 0 0 0 SSBP4 170463 broad.mit.edu 37 19 18543509 18543509 + Splice_Site SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr19:18543509G>C uc002niy.2 + 12 989 c.751_splice c.e12-1 p.I251_splice SSBP4_uc002niz.2_Splice_Site_p.I229_splice NM_032627 NP_116016 Q9BWG4 SSBP4_HUMAN single stranded DNA binding protein 4 isoform a nucleus single-stranded DNA binding 0 CTTGTCCCCAGATCCCCTACT 0.647 NA 11 22 0 0 0 0 TSSK6 83983 broad.mit.edu 37 19 19625897 19625897 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr19:19625897C>T uc002nmr.2 - 1 573 c.340G>A c.(340-342)GAC>AAC p.D114N TSSK6_uc002nmq.2_RNA|NDUFA13_uc002nms.2_5'Flank|NDUFA13_uc010xqx.1_5'Flank|NDUFA13_uc010xqy.1_5'Flank NM_032037 NP_114426 Q9BXA6 TSSK6_HUMAN testis-specific serine kinase 6 114 Protein kinase. multicellular organismal development|sperm chromatin condensation ATP binding|magnesium ion binding|protein serine/threonine kinase activity stomach(1) 1 GCAAAGAGGTCGCGCGCCTGA 0.657 NA 22 53 0 0 0 0 NUDT19 390916 broad.mit.edu 37 19 33183199 33183199 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr19:33183199G>A uc010edf.2 + 1 333 c.333G>A c.(331-333)AAG>AAA p.K111K NM_001105570 NP_001099040 A8MXV4 NUD19_HUMAN nudix (nucleoside diphosphate linked moiety 111 Nudix hydrolase. mitochondrion|peroxisome hydrolase activity|metal ion binding 0 Esophageal squamous(110;0.137) ATGACCACAAGACCGACAACA 0.716 NA 13 27 0 0 0 0 GRAMD1A 57655 broad.mit.edu 37 19 35502416 35502416 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr19:35502416C>T uc010xse.1 + 7 701 c.564C>T c.(562-564)TTC>TTT p.F188F GRAMD1A_uc002nxi.1_Silent_p.F275F|GRAMD1A_uc002nxk.2_Silent_p.F181F|GRAMD1A_uc002nxl.2_5'UTR|GRAMD1A_uc010xsf.1_Silent_p.F193F|GRAMD1A_uc002nxm.1_5'Flank NM_020895 NP_065946 Q96CP6 GRM1A_HUMAN GRAM domain containing 1A isoform 1 188 integral to membrane 0 all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) ACCGCTGCTTCCTCCTCATCT 0.617 NA 11 129 0 0 0 0 USF2 7392 broad.mit.edu 37 19 35761375 35761375 + Missense_Mutation SNP A A G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr19:35761375A>G uc002nyq.1 + 5 564 c.455A>G c.(454-456)AAT>AGT p.N152S USF2_uc010xss.1_Missense_Mutation_p.N152S|USF2_uc002nyr.1_Missense_Mutation_p.N85S|USF2_uc002nys.1_5'UTR|USF2_uc002nyt.1_Intron|USF2_uc002nyu.1_5'UTR|USF2_uc002nyv.1_5'UTR NM_003367 NP_003358 Q15853 USF2_HUMAN upstream stimulatory factor 2 isoform 1 152 lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter by glucose nucleus bHLH transcription factor binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity 0 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) CCCTTCAGCAATGGTGGCAGT 0.592 NA 23 53 0 0 0 0 TMEM147 10430 broad.mit.edu 37 19 36037925 36037925 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr19:36037925C>T uc002oaj.1 + 5 520 c.423C>T c.(421-423)ATC>ATT p.I141I uc010eec.1_5'Flank|uc002oag.2_5'Flank|TMEM147_uc002oai.1_Silent_p.I92I|TMEM147_uc002oak.1_Silent_p.I96I NM_032635 NP_116024 Q9BVK8 TM147_HUMAN transmembrane protein 147 141 Helical; (Potential). endoplasmic reticulum membrane|integral to membrane protein binding 0 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) ACTCCAACATCAGTCTGGTAG 0.567 NA 19 93 0 0 0 0 ZNF383 163087 broad.mit.edu 37 19 37726940 37726940 + Missense_Mutation SNP A A G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr19:37726940A>G uc002oft.1 + 7 776 c.196A>G c.(196-198)ATG>GTG p.M66V ZNF383_uc002ofs.1_Missense_Mutation_p.M1V|ZNF383_uc002ofu.1_Missense_Mutation_p.M66V NM_152604 NP_689817 Q8NA42 ZN383_HUMAN zinc finger protein 383 66 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding p.M66I(1) ovary(1)|skin(1) 2 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) AGAGCCCTGGATGGTTGGCAG 0.498 NA 26 71 0 0 0 0 MAP4K1 11184 broad.mit.edu 37 19 39101700 39101700 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr19:39101700C>G uc002oix.1 - 11 909 c.801G>C c.(799-801)AAG>AAC p.K267N MAP4K1_uc002oiy.1_Missense_Mutation_p.K267N|MAP4K1_uc010xug.1_Intron NM_007181 NP_009112 Q92918 M4K1_HUMAN mitogen-activated protein kinase kinase kinase 267 Protein kinase. activation of JUN kinase activity|peptidyl-serine phosphorylation ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity skin(4)|lung(3)|ovary(1) 8 all_cancers(60;6.42e-06)|Ovarian(47;0.103) Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272) CACTGAGCATCTTGGTGGCGC 0.532 NA 6 16 0 0 0 0 MAP4K1 11184 broad.mit.edu 37 19 39103253 39103253 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr19:39103253G>A uc002oix.1 - 9 771 c.663C>T c.(661-663)CTC>CTT p.L221L MAP4K1_uc002oiy.1_Silent_p.L221L|MAP4K1_uc010xug.1_5'UTR NM_007181 NP_009112 Q92918 M4K1_HUMAN mitogen-activated protein kinase kinase kinase 221 Protein kinase. activation of JUN kinase activity|peptidyl-serine phosphorylation ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity skin(4)|lung(3)|ovary(1) 8 all_cancers(60;6.42e-06)|Ovarian(47;0.103) Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272) CTGCCTACCTGAGAGGGTGCA 0.607 NA 13 23 0 0 0 0 ZNF546 339327 broad.mit.edu 37 19 40519724 40519724 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr19:40519724G>C uc002oms.2 + 7 803 c.547G>C c.(547-549)GAG>CAG p.E183Q ZNF546_uc002omt.2_Missense_Mutation_p.E157Q NM_178544 NP_848639 Q86UE3 ZN546_HUMAN zinc finger protein 546 183 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|breast(1)|skin(1) 3 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) ACATGAATTTGAGAGACAAGA 0.358 NA 22 32 0 0 0 0 LTBP4 8425 broad.mit.edu 37 19 41125251 41125251 + Splice_Site SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr19:41125251G>A uc002ooh.1 + 26 3272 c.3272_splice c.e26-1 p.D1091_splice LTBP4_uc002oog.1_Splice_Site_p.D1054_splice|LTBP4_uc002ooi.1_Splice_Site_p.D1024_splice|LTBP4_uc002ooj.1_Splice_Site|LTBP4_uc002ook.1_Splice_Site_p.D225_splice|LTBP4_uc002ool.1_Splice_Site_p.D103_splice|LTBP4_uc002oom.1_Splice_Site|LTBP4_uc010xvp.1_Splice_Site NM_001042544 NP_001036009 Q8N2S1 LTBP4_HUMAN latent transforming growth factor beta binding growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity central_nervous_system(1) 1 Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384) CCTGCTTACAGATGTGAACGA 0.468 NA 38 104 0 0 0 0 SNRPA 6626 broad.mit.edu 37 19 41257373 41257373 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr19:41257373G>C uc002ooz.2 + 1 595 c.60G>C c.(58-60)AAG>AAC p.K20N C19orf54_uc002oou.1_5'Flank|C19orf54_uc002oow.1_5'Flank|C19orf54_uc002oox.1_5'Flank|C19orf54_uc002ooy.1_5'Flank|C19orf54_uc010xvs.1_5'Flank NM_004596 NP_004587 P09012 SNRPA_HUMAN small nuclear ribonucleoprotein polypeptide A 20 RRM 1. nucleoplasm|spliceosomal complex nucleotide binding|protein binding|RNA binding skin(2)|ovary(1)|central_nervous_system(1) 4 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) TCAATGAGAAGATCAAGAAGG 0.403 NA 47 91 0 0 0 0 CYP2F1 1572 broad.mit.edu 37 19 41630772 41630772 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr19:41630772C>T uc002opu.1 + 8 1169 c.1113C>T c.(1111-1113)GTC>GTT p.V371V CYP2F1_uc010xvw.1_Intron|CYP2F1_uc010xvv.1_3'UTR|CYP2F1_uc002opv.1_RNA NM_000774 NP_000765 P24903 CP2F1_HUMAN cytochrome P450, family 2, subfamily F, 371 naphthalene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding 0 CGCACCGCGTCACTAGGGACA 0.617 NA 5 24 0 0 0 0 C19orf61 56006 broad.mit.edu 37 19 44251656 44251656 + Missense_Mutation SNP G G T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr19:44251656G>T uc002oxj.2 - 5 869 c.526C>A c.(526-528)CGC>AGC p.R176S C19orf61_uc002oxk.2_Missense_Mutation_p.R176S|C19orf61_uc010eiy.1_Missense_Mutation_p.R176S NM_019108 NP_061981 Q9H0W8 SMG9_HUMAN SMG9 protein 176 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay intracellular protein binding 0 Prostate(69;0.0352) TGCTTCATGCGCTCTGGGGGC 0.572 NA 4 60 0.00909568 0.00929024 1 0 BLOC1S3 388552 broad.mit.edu 37 19 45683082 45683082 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr19:45683082C>G uc002pax.3 + 2 624 c.528C>G c.(526-528)ATC>ATG p.I176M TRAPPC6A_uc002pav.2_5'Flank|TRAPPC6A_uc002paw.2_5'Flank NM_212550 NP_997715 Q6QNY0 BL1S3_HUMAN biogenesis of lysosomal organelles complex-1, 176 cellular membrane organization|eye development|melanosome organization|platelet activation|platelet dense granule organization|post-Golgi vesicle-mediated transport BLOC-1 complex identical protein binding 0 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231) GTCTGGACATCGTGGCTGGCT 0.726 NA Hermansky-Pudlak_syndrome 9 22 0 0 0 0 OPA3 80207 broad.mit.edu 37 19 46056955 46056955 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr19:46056955C>G uc002pck.3 - 2 457 c.357G>C c.(355-357)TGG>TGC p.W119C OPA3_uc002pcj.3_Intron|OPA3_uc010xxk.1_Missense_Mutation_p.W66C NM_025136 NP_079412 Q9H6K4 OPA3_HUMAN OPA3 protein isoform b 119 Potential. response to stimulus|visual perception mitochondrion 0 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242) GCAGCGCGTTCCAGGCAGCAC 0.716 NA 6 20 0 0 0 0 CCDC9 26093 broad.mit.edu 37 19 47763996 47763996 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr19:47763996G>A uc010xym.1 + 5 569 c.362G>A c.(361-363)CGA>CAA p.R121Q NM_015603 NP_056418 Q9Y3X0 CCDC9_HUMAN coiled-coil domain containing 9 121 Gly-rich. 0 all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114) OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183) GAGCAGCCTCGAGGAGGAGGA 0.716 NA 12 24 0 0 0 0 HRC 3270 broad.mit.edu 37 19 49657579 49657579 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr19:49657579C>G uc002pmv.2 - 1 1103 c.916G>C c.(916-918)GAT>CAT p.D306H NM_002152 NP_002143 P23327 SRCH_HUMAN histidine rich calcium binding protein 306 4 X tandem repeats, acidic.|1-3.|6 X approximate tandem repeats. muscle contraction sarcoplasmic reticulum lumen calcium ion binding ovary(1) 1 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622) TCATCATCATCATTGTCATCT 0.532 NA 17 55 0 0 0 0 ALDH16A1 126133 broad.mit.edu 37 19 49967126 49967126 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr19:49967126G>A uc002pnt.2 + 9 1230 c.1114G>A c.(1114-1116)GAT>AAT p.D372N ALDH16A1_uc010yar.1_Missense_Mutation_p.D321N|ALDH16A1_uc010yas.1_Missense_Mutation_p.D207N|ALDH16A1_uc010yat.1_Missense_Mutation_p.D209N NM_153329 NP_699160 Q8IZ83 A16A1_HUMAN aldehyde dehydrogenase 16 family, member A1 372 oxidoreductase activity|protein binding skin(1) 1 all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251) CCAGGCTGGTGATGTGCCTTC 0.383 NA 49 221 0 0 0 0 KLK4 9622 broad.mit.edu 37 19 51410250 51410250 + Silent SNP A A C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr19:51410250A>C uc002pua.1 - 5 705 c.705T>G c.(703-705)GGT>GGG p.G235G KLK4_uc002pty.1_3'UTR|KLK4_uc002ptz.1_RNA|KLK4_uc002pub.1_Silent_p.G140G|KLK4_uc002puc.1_RNA NM_004917 NP_004908 Q9Y5K2 KLK4_HUMAN kallikrein-related peptidase 4 preproprotein 235 Peptidase S1. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity 0 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878) TGGTGTAGACACCTGGCACGC 0.552 NA 33 96 0 0 0 0 ZNF766 90321 broad.mit.edu 37 19 52793884 52793884 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr19:52793884C>T uc002pyr.1 + 4 883 c.840C>T c.(838-840)TTC>TTT p.F280F ZNF766_uc002pys.1_3'UTR|ZNF766_uc002pyt.1_Silent_p.F295F NM_001010851 NP_001010851 Q5HY98 ZN766_HUMAN zinc finger protein 766 280 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871) GCAAGGTCTTCAGTCGAATTA 0.403 NA 7 24 0 0 0 0 ZNF816A 125893 broad.mit.edu 37 19 53454424 53454424 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr19:53454424G>A uc002qal.1 - 5 905 c.604C>T c.(604-606)CAT>TAT p.H202Y ZNF321_uc010eqj.2_Intron|ZNF321_uc002qak.1_Intron|ZNF816A_uc002qam.1_Missense_Mutation_p.H186Y NM_001031665 NP_001026835 Q0VGE8 ZN816_HUMAN zinc finger protein 816A 202 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.0313) TTAGAAATATGAGTTTTGAGC 0.368 NA 19 66 0 0 0 0 LILRA6 79168 broad.mit.edu 37 19 54744933 54744933 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr19:54744933G>A uc002qeu.1 - 5 853 c.729C>T c.(727-729)CTC>CTT p.L243L LILRB3_uc002qeh.1_Intron|LILRB3_uc002qeg.1_Intron|LILRB3_uc002qei.1_Intron|LILRA6_uc002qek.1_Silent_p.L243L|LILRB3_uc010erh.1_Intron|LILRB3_uc002qej.1_Intron|LILRA6_uc002qel.1_Silent_p.L243L|LILRA6_uc002qem.1_RNA|LILRB3_uc002qen.1_RNA|LILRB3_uc002qeo.1_Silent_p.L243L|LILRB3_uc002qep.1_Intron|LILRB3_uc002qeq.1_Silent_p.L243L|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_Intron|LILRA6_uc010yep.1_Silent_p.L243L|LILRA6_uc010yeq.1_Silent_p.L243L|LILRA6_uc002qet.3_RNA|LILRA6_uc002qev.1_Silent_p.L104L NM_024318 NP_077294 Q6PI73 LIRA6_HUMAN leukocyte immunoglobulin-like receptor, 243 Extracellular (Potential).|Ig-like C2-type 1. integral to membrane receptor activity skin(2) 2 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) AGCCACACTGGAGGGTCAGGC 0.637 NA 13 95 0 0 0 0 FCAR 2204 broad.mit.edu 37 19 55401037 55401037 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr19:55401037G>A uc002qhr.1 + 5 869 c.672G>A c.(670-672)ACG>ACA p.T224T FCAR_uc002qhs.1_RNA|FCAR_uc002qht.1_Silent_p.T175T|FCAR_uc010esi.1_Silent_p.T101T|FCAR_uc002qhu.1_Silent_p.T128T|FCAR_uc002qhv.1_Silent_p.T202T|FCAR_uc002qhw.1_Silent_p.T212T|FCAR_uc002qhx.1_Silent_p.T116T|FCAR_uc002qhy.1_Silent_p.T190T|FCAR_uc002qhz.1_Missense_Mutation_p.D188N|FCAR_uc002qia.1_Silent_p.T115T NM_002000 NP_001991 P24071 FCAR_HUMAN Fc alpha receptor isoform a precursor 224 Extracellular (Potential). immune response extracellular region|integral to plasma membrane IgA binding|receptor activity ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(193;0.0443) AAGATTACACGACGCAGAACT 0.532 NA 102 303 0 0 0 0 FCAR 2204 broad.mit.edu 37 19 55401049 55401049 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr19:55401049G>C uc002qhr.1 + 5 881 c.684G>C c.(682-684)TTG>TTC p.L228F FCAR_uc002qhs.1_RNA|FCAR_uc002qht.1_Missense_Mutation_p.L179F|FCAR_uc010esi.1_Missense_Mutation_p.L105F|FCAR_uc002qhu.1_Missense_Mutation_p.L132F|FCAR_uc002qhv.1_Missense_Mutation_p.L206F|FCAR_uc002qhw.1_Missense_Mutation_p.L216F|FCAR_uc002qhx.1_Missense_Mutation_p.L120F|FCAR_uc002qhy.1_Missense_Mutation_p.L194F|FCAR_uc002qhz.1_Missense_Mutation_p.D192H|FCAR_uc002qia.1_Missense_Mutation_p.L119F NM_002000 NP_001991 P24071 FCAR_HUMAN Fc alpha receptor isoform a precursor 228 Helical; (Potential). immune response extracellular region|integral to plasma membrane IgA binding|receptor activity ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(193;0.0443) CGCAGAACTTGATCCGCATGG 0.537 NA 108 317 0 0 0 0 ZNF784 147808 broad.mit.edu 37 19 56133815 56133815 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr19:56133815C>T uc002qll.1 - 2 288 c.274G>A c.(274-276)GAG>AAG p.E92K ZNF784_uc010etb.1_RNA NM_203374 NP_976308 Q8NCA9 ZN784_HUMAN zinc finger protein 784 92 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.105) CCGCCTCCCTCGGCCCCAGCC 0.711 NA 5 18 0 0 0 0 ZNF671 79891 broad.mit.edu 37 19 58233748 58233748 + Missense_Mutation SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr19:58233748C>A uc002qpz.3 - 3 423 c.324G>T c.(322-324)TGG>TGT p.W108C ZNF776_uc002qpx.2_Intron|ZNF671_uc010eug.2_Missense_Mutation_p.W31C|ZNF671_uc010yhf.1_Missense_Mutation_p.W10C NM_024833 NP_079109 Q8TAW3 ZN671_HUMAN zinc finger protein 671 108 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) GGTCATACACCCAGGGCTCTT 0.537 NA 10 209 7.48e-07 7.92e-07 1 0 ZNF584 201514 broad.mit.edu 37 19 58921347 58921347 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr19:58921347G>C uc002qsp.2 + 2 510 c.58G>C c.(58-60)GAG>CAG p.E20Q ZNF584_uc010yia.1_Intron|ZNF584_uc002qsr.2_Intron|ZNF584_uc010yib.1_Missense_Mutation_p.E12Q NM_173548 NP_775819 Q8IVC4 ZN584_HUMAN zinc finger protein 584 20 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0271) GGTGATGTTTGAGGATGTGAC 0.498 NA 23 81 0 0 0 0 GRHL1 29841 broad.mit.edu 37 2 10132193 10132193 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:10132193C>G uc002raa.2 + 11 1551 c.1380C>G c.(1378-1380)TTC>TTG p.F460L GRHL1_uc002rab.2_RNA|GRHL1_uc002rad.2_Missense_Mutation_p.F271L|GRHL1_uc010yjb.1_Missense_Mutation_p.F309L NM_198182 NP_937825 Q9NZI5 GRHL1_HUMAN grainyhead-like 1 460 cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi apparatus|nucleus DNA binding pancreas(1)|skin(1) 2 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246) TCACAGTTTTCAAACCCTTCA 0.433 NA 4 26 0 0 0 0 GREB1 9687 broad.mit.edu 37 2 11774361 11774361 + Missense_Mutation SNP G G T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:11774361G>T uc002rbk.1 + 29 5396 c.5096G>T c.(5095-5097)TGG>TTG p.W1699L GREB1_uc002rbp.1_Missense_Mutation_p.W697L NM_014668 NP_055483 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 1699 integral to membrane ovary(1) 1 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) CTGCGGAAGTGGTCCAGCAAG 0.607 NA 16 64 6.32e-08 6.72e-08 1 0 RAD51AP2 729475 broad.mit.edu 37 2 17699613 17699613 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:17699613C>T uc002rcl.1 - 1 94 c.70G>A c.(70-72)GAG>AAG p.E24K RAD51AP2_uc010exn.1_Missense_Mutation_p.E15K NM_001099218 NP_001092688 Q09MP3 R51A2_HUMAN RAD51 associated protein 2 24 ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) TCCGGGTCCTCAGGAGGCGTT 0.602 NA 40 109 0 0 0 0 WDR35 57539 broad.mit.edu 37 2 20130163 20130165 + Nonsense_Mutation TNP TCA TCA ATG TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:20130163_20130165TCA>ATG uc002rdi.2 - 26 3254_3256 c.3146_3148TGA>CAT c.(3145-3150)CTGAAG>CCATAG p.1049_1050LK>P* WDR35_uc002rdj.2_Nonsense_Mutation_p.1038_1039LK>P*|WDR35_uc010ext.2_RNA|WDR35_uc002rdh.2_Nonsense_Mutation_p.522_523LK>P* NM_001006657 NP_001006658 Q9P2L0 WDR35_HUMAN WD repeat domain 35 isoform 1 1049_1050 ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCACCTGTCTTCAGTGCAGTGTC 0.433 NA 19 173 0 0 0 0 APOB 338 broad.mit.edu 37 2 21238409 21238409 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:21238409G>A uc002red.2 - 22 3469 c.3341C>T c.(3340-3342)ACA>ATA p.T1114I NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 1114 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TTCTTCCTTTGTGTCACAACT 0.423 NA 6 33 0 0 0 0 CAD 790 broad.mit.edu 37 2 27463930 27463930 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:27463930G>A uc002rji.2 + 37 5805 c.5643G>A c.(5641-5643)CTG>CTA p.L1881L CAD_uc010eyw.2_Silent_p.L1818L NM_004341 NP_004332 P27708 PYR1_HUMAN carbamoylphosphate synthetase 2/aspartate 1881 Linker. 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) CTGCAGAGCTGATGGGAACCC 0.622 NA 43 101 0 0 0 0 EPCAM 4072 broad.mit.edu 37 2 47601169 47601169 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:47601169C>G uc002rvx.2 + 3 765 c.407C>G c.(406-408)TCT>TGT p.S136C EPCAM_uc002rvw.2_Missense_Mutation_p.S164C NM_002354 NP_002345 P16422 EPCAM_HUMAN epithelial cell adhesion molecule precursor 136 Extracellular (Potential). positive regulation of cell proliferation apical plasma membrane|basolateral plasma membrane|integral to membrane|lateral plasma membrane|tight junction protein binding skin(1) 1 ATAACCTGCTCTGAGCGAGTG 0.433 NA Lynch_syndrome 8 39 0 0 0 0 RPS27A 6233 broad.mit.edu 37 2 55460509 55460509 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:55460509C>G uc010yow.1 + 3 256 c.59C>G c.(58-60)TCG>TGG p.S20W C2orf63_uc002ryh.2_5'Flank|C2orf63_uc002ryi.2_5'Flank|C2orf63_uc002ryj.2_5'Flank|RPS27A_uc002ryk.2_Missense_Mutation_p.S20W|RPS27A_uc002ryl.2_RNA|RPS27A_uc002rym.2_RNA NM_001135592 NP_001129064 P62979 RS27A_HUMAN ubiquitin and ribosomal protein S27a precursor 20 Ubiquitin-like. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane metal ion binding|structural constituent of ribosome ovary(1) 1 GTTGAACCCTCGGATACGATA 0.408 NA 4 30 0 0 0 0 AAK1 22848 broad.mit.edu 37 2 69704114 69704114 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:69704114C>T uc002sfp.2 - 21 3194 c.2689G>A c.(2689-2691)GAT>AAT p.D897N NM_014911 NP_055726 Q2M2I8 AAK1_HUMAN AP2 associated kinase 1 897 coated pit|mitochondrion|plasma membrane ATP binding|protein serine/threonine kinase activity 0 AGATTACTATCTTCTGCAGCT 0.423 NA 3 11 0 0 0 0 STAMBP 10617 broad.mit.edu 37 2 74074516 74074516 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:74074516G>C uc002sjs.2 + 5 428 c.378G>C c.(376-378)AAG>AAC p.K126N STAMBP_uc002sjt.2_Missense_Mutation_p.K126N|STAMBP_uc002sju.2_Missense_Mutation_p.K126N|STAMBP_uc002sjv.2_Missense_Mutation_p.K126N NM_201647 NP_964010 O95630 STABP_HUMAN STAM binding protein 126 Glu-rich.|Interaction with CHMP3. JAK-STAT cascade|positive regulation of cell proliferation early endosome|membrane|nucleus metal ion binding|metallopeptidase activity|protein binding ovary(1)|lung(1)|breast(1)|pancreas(1) 4 CTTTGTAGAAGAAGGAAGCAG 0.448 NA 8 29 0 0 0 0 MOGS 7841 broad.mit.edu 37 2 74690021 74690021 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:74690021C>T uc010ffj.2 - 4 1058 c.895G>A c.(895-897)GGC>AGC p.G299S MOGS_uc010ffh.2_Missense_Mutation_p.G24S|MOGS_uc010yrt.1_Missense_Mutation_p.G180S|MOGS_uc010ffi.2_Missense_Mutation_p.G193S|MOGS_uc010yru.1_3'UTR NM_006302 NP_006293 Q13724 MOGS_HUMAN mannosyl-oligosaccharide glucosidase isoform 1 299 Lumenal (Potential). oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane|membrane fraction mannosyl-oligosaccharide glucosidase activity 0 CCTGGCAAGCCGAGGTAGCGT 0.582 NA 51 134 0 0 0 0 CAPG 822 broad.mit.edu 37 2 85628366 85628366 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:85628366C>T uc002spl.1 - 5 688 c.438G>A c.(436-438)AAG>AAA p.K146K CAPG_uc002spm.1_Silent_p.K146K|CAPG_uc010ysq.1_Silent_p.K146K|CAPG_uc010fgi.1_Silent_p.K146K|CAPG_uc010fgj.1_Silent_p.K40K NM_001747 NP_001738 P40121 CAPG_HUMAN gelsolin-like capping protein 146 Nuclear localization signal (Potential). barbed-end actin filament capping|protein complex assembly F-actin capping protein complex|melanosome|nuclear membrane|nucleolus actin binding 0 CACGGATGTTCTTCTTCCCCT 0.592 NA 34 96 0 0 0 0 CAPG 822 broad.mit.edu 37 2 85628369 85628369 + Missense_Mutation SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:85628369C>A uc002spl.1 - 5 685 c.435G>T c.(433-435)AAG>AAT p.K145N CAPG_uc002spm.1_Missense_Mutation_p.K145N|CAPG_uc010ysq.1_Missense_Mutation_p.K145N|CAPG_uc010fgi.1_Missense_Mutation_p.K145N|CAPG_uc010fgj.1_Missense_Mutation_p.K39N NM_001747 NP_001738 P40121 CAPG_HUMAN gelsolin-like capping protein 145 Nuclear localization signal (Potential). barbed-end actin filament capping|protein complex assembly F-actin capping protein complex|melanosome|nuclear membrane|nucleolus actin binding 0 GGATGTTCTTCTTCCCCTTCA 0.602 NA 34 95 2.76e-19 3.01e-19 1 0 TTL 150465 broad.mit.edu 37 2 113258824 113258824 + Missense_Mutation SNP G G C rs2943625 TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:113258824G>C uc002thu.2 + 4 690 c.511G>C c.(511-513)GAT>CAT p.D171H TTL_uc010fkm.1_5'Flank NM_153712 NP_714923 Q8NG68 TTL_HUMAN tubulin tyrosine ligase 171 TTL. protein modification process ATP binding|tubulin-tyrosine ligase activity 0 Ovarian(717;0.024) BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644) AGAGCTTCTCGATTTCATAGA 0.458 NA T ETV6 ALL 9 50 0 0 0 0 TTL 150465 broad.mit.edu 37 2 113258890 113258890 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:113258890G>C uc002thu.2 + 4 756 c.577G>C c.(577-579)GAG>CAG p.E193Q TTL_uc010fkm.1_5'Flank NM_153712 NP_714923 Q8NG68 TTL_HUMAN tubulin tyrosine ligase 193 TTL. protein modification process ATP binding|tubulin-tyrosine ligase activity 0 Ovarian(717;0.024) BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644) TCTGCTGCTTGAGCCAGGTCA 0.463 NA T ETV6 ALL 13 49 0 0 0 0 CLASP1 23332 broad.mit.edu 37 2 122165228 122165228 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:122165228C>T uc002tnc.2 - 25 2878 c.2488G>A c.(2488-2490)GAT>AAT p.D830N CLASP1_uc010yyv.1_5'UTR|CLASP1_uc002tmz.2_5'UTR|CLASP1_uc002tna.2_5'UTR|CLASP1_uc010yyw.1_RNA|CLASP1_uc002tnb.2_RNA|CLASP1_uc010yyx.1_RNA|CLASP1_uc010yyy.1_RNA|CLASP1_uc010yyz.1_Missense_Mutation_p.D810N|CLASP1_uc010yza.1_Missense_Mutation_p.D802N|CLASP1_uc010yzb.1_RNA|CLASP1_uc010yzc.1_RNA|CLASP1_uc002tng.1_Missense_Mutation_p.D801N NM_015282 NP_056097 Q7Z460 CLAP1_HUMAN CLIP-associating protein 1 isoform 1 830 axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule kinetochore binding|microtubule plus-end binding ovary(1)|central_nervous_system(1) 2 Renal(3;0.0496) CTTGAGGCATCACTGTTGGCA 0.502 NA 38 115 0 0 0 0 LIMS2 55679 broad.mit.edu 37 2 128415128 128415128 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:128415128G>A uc002tpa.2 - 2 186 c.20C>T c.(19-21)TCG>TTG p.S7L LIMS2_uc002tox.2_Missense_Mutation_p.S31L|LIMS2_uc010fmb.2_5'UTR|LIMS2_uc002toy.2_Missense_Mutation_p.S2L|LIMS2_uc010yzm.1_Missense_Mutation_p.S29L|LIMS2_uc002toz.2_Missense_Mutation_p.S2L|LIMS2_uc002tpb.2_Missense_Mutation_p.S2L NM_001161403 NP_001154875 Q7Z4I7 LIMS2_HUMAN LIM and senescent cell antigen-like domains 2 7 cell junction assembly cytosol|focal adhesion|nucleus zinc ion binding 0 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0681) CAAGGCGTCCGACATATTGCT 0.662 NA 24 61 0 0 0 0 R3HDM1 23518 broad.mit.edu 37 2 136399347 136399347 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:136399347C>T uc002tuo.2 + 15 1831 c.1461C>T c.(1459-1461)ATC>ATT p.I487I R3HDM1_uc010fni.2_Silent_p.I485I|R3HDM1_uc002tup.2_Silent_p.I431I|R3HDM1_uc010zbh.1_Intron NM_015361 NP_056176 Q15032 R3HD1_HUMAN R3H domain containing 1 487 nucleic acid binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.127) GTATTCTGATCAACCCACAAA 0.418 NA 14 47 0 0 0 0 NEB 4703 broad.mit.edu 37 2 152381070 152381070 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:152381070C>G uc010fnx.2 - 124 17421 c.17230G>C c.(17230-17232)GAC>CAC p.D5744H NEB_uc002txr.2_Missense_Mutation_p.D2167H|NEB_uc002txt.3_Missense_Mutation_p.D249H NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 5744 Nebulin 157. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) TTCTTGATGTCTGGTCGATCA 0.502 NA 49 146 0 0 0 0 KCNJ3 3760 broad.mit.edu 37 2 155555807 155555807 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:155555807G>A uc002tyv.1 + 1 715 c.520G>A c.(520-522)GCC>ACC p.A174T KCNJ3_uc010zce.1_Missense_Mutation_p.A174T NM_002239 NP_002230 P48549 IRK3_HUMAN potassium inwardly-rectifying channel J3 174 Helical; Name=M2; (By similarity). synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding upper_aerodigestive_tract(1)|pancreas(1) 2 Halothane(DB01159) CATCGTGGACGCCTTCCTCAT 0.597 NA 13 49 0 0 0 0 TANC1 85461 broad.mit.edu 37 2 160087378 160087378 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:160087378C>T uc002uag.2 + 27 5715 c.5441C>T c.(5440-5442)TCT>TTT p.S1814F TANC1_uc010zcm.1_3'UTR|TANC1_uc010fon.2_Missense_Mutation_p.S658F NM_033394 NP_203752 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and 1814 cell junction|postsynaptic density|postsynaptic membrane binding ovary(2)|central_nervous_system(1) 3 CCAGTCCACTCTCAAGAGAAC 0.463 NA 8 43 0 0 0 0 SCN2A 6326 broad.mit.edu 37 2 166210745 166210745 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:166210745C>T uc002udc.2 + 17 3253 c.2963C>T c.(2962-2964)TCT>TTT p.S988F SCN2A_uc002udd.2_Missense_Mutation_p.S988F|SCN2A_uc002ude.2_Missense_Mutation_p.S988F NM_001040142 NP_001035232 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha 988 II. myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|breast(1)|pancreas(1) 8 Lamotrigine(DB00555) TCCTTCAGTTCTGACAATCTT 0.383 NA 40 171 0 0 0 0 SCN1A 6323 broad.mit.edu 37 2 166900256 166900256 + Nonsense_Mutation SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:166900256C>A uc010zcz.1 - 11 1984 c.1966G>T c.(1966-1968)GGA>TGA p.G656* SCN1A_uc002udo.3_Nonsense_Mutation_p.G525*|SCN1A_uc010fpk.2_Intron NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 656 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) ACTGAAGGTCCACCAACCAAG 0.478 NA 6 75 8.13e-05 8.47e-05 1 0 NOSTRIN 115677 broad.mit.edu 37 2 169684718 169684718 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:169684718C>T uc002ueg.2 + 4 252 c.248C>T c.(247-249)GCG>GTG p.A83V NOSTRIN_uc002uef.2_Missense_Mutation_p.A83V|NOSTRIN_uc002uei.2_5'UTR|NOSTRIN_uc010fpu.2_Missense_Mutation_p.A55V|NOSTRIN_uc002ueh.2_Missense_Mutation_p.A5V|NOSTRIN_uc002uej.2_5'UTR NM_001039724 NP_001034813 Q8IVI9 NOSTN_HUMAN nitric oxide synthase trafficker isoform 2 83 endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane protein binding 0 AAATCCACAGCGGACCTGCAT 0.463 NA 14 48 0 0 0 0 HOXD8 3234 broad.mit.edu 37 2 176995585 176995585 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:176995585C>T uc002uko.2 + 1 1109 c.491C>T c.(490-492)TCG>TTG p.S164L uc002ukl.1_5'Flank|uc002ukm.1_5'Flank|HOXD8_uc002ukn.2_5'UTR|HOXD8_uc002ukp.2_Missense_Mutation_p.S164L NM_019558 NP_062458 P13378 HXD8_HUMAN homeobox D8 164 anterior/posterior axis specification, embryo nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195) Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556) GACTGTAAATCGTCCAGTGGT 0.488 NA 25 118 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179398942 179398942 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:179398942C>T uc010zfg.1 - 307 94920 c.94696G>A c.(94696-94698)GAA>AAA p.E31566K uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E25261K|TTN_uc010zfi.1_Missense_Mutation_p.E25194K|TTN_uc010zfj.1_Missense_Mutation_p.E25069K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 32493 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) GGGCCAATTTCAATGGATGCC 0.443 NA 30 86 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179498729 179498729 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:179498729G>A uc010zfg.1 - 180 35017 c.34793C>T c.(34792-34794)TCT>TTT p.S11598F TTN_uc010zfh.1_Missense_Mutation_p.S5293F|TTN_uc010zfi.1_Missense_Mutation_p.S5226F|TTN_uc010zfj.1_Missense_Mutation_p.S5101F NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 12525 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) TTTTTCATGAGAAAGTTCACA 0.368 NA 69 156 0 0 0 0 ZNF385B 151126 broad.mit.edu 37 2 180634445 180634445 + Missense_Mutation SNP T T C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:180634445T>C uc002unn.3 - 3 642 c.38A>G c.(37-39)AAG>AGG p.K13R NM_152520 NP_689733 Q569K4 Z385B_HUMAN zinc finger protein 385B isoform 1 13 nucleus nucleic acid binding|zinc ion binding ovary(1) 1 Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201) CTTTATCCCCTTTTCTTCAAA 0.423 NA 3 87 0 0 0 0 SSFA2 6744 broad.mit.edu 37 2 182763789 182763789 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:182763789G>A uc002uoi.2 + 6 775 c.453G>A c.(451-453)GGG>GGA p.G151G SSFA2_uc002uoh.2_Silent_p.G151G|SSFA2_uc002uoj.2_Silent_p.G151G|SSFA2_uc002uok.2_RNA|SSFA2_uc010zfo.1_5'UTR|SSFA2_uc002uol.2_5'UTR NM_001130445 NP_001123917 P28290 SSFA2_HUMAN sperm specific antigen 2 isoform 1 151 cytoplasm|plasma membrane actin binding breast(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0856) ATCAGAAAGGGAGAAGTATGA 0.323 NA 5 27 0 0 0 0 OSGEPL1 64172 broad.mit.edu 37 2 190626240 190626240 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:190626240C>G uc002uqz.1 - 2 661 c.127G>C c.(127-129)GAA>CAA p.E43Q OSGEPL1_uc002ura.1_RNA|OSGEPL1_uc010zfy.1_Missense_Mutation_p.E43Q NM_022353 NP_071748 Q9H4B0 OSGP2_HUMAN O-sialoglycoprotein endopeptidase-like 1 43 proteolysis|tRNA processing metalloendopeptidase activity 0 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0293)|all cancers(119;0.0831) CAACTAGTTTCAATTCCCAAT 0.313 NA 10 78 0 0 0 0 INPP1 3628 broad.mit.edu 37 2 191235867 191235867 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:191235867C>G uc002ury.3 + 7 1639 c.939C>G c.(937-939)TTC>TTG p.F313L INPP1_uc010fsb.2_Missense_Mutation_p.F313L|INPP1_uc002urx.3_Missense_Mutation_p.F313L NM_001128928 NP_001122400 P49441 INPP_HUMAN inositol polyphosphate-1-phosphatase 313 signal transduction inositol-1,4-bisphosphate 1-phosphatase activity|metal ion binding ovary(1)|lung(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057) Lithium(DB01356) ATACCACATTCAAATGGGACT 0.468 NA 15 55 0 0 0 0 STAT4 6775 broad.mit.edu 37 2 191895766 191895766 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:191895766G>A uc002usm.1 - 23 2406 c.2152C>T c.(2152-2154)CTT>TTT p.L718F STAT4_uc002usn.1_Missense_Mutation_p.L718F NM_003151 NP_003142 Q14765 STAT4_HUMAN signal transducer and activator of transcription 718 JAK-STAT cascade cytoplasm|nucleus calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(3)|skin(2)|lung(1)|ovary(1)|prostate(1)|pancreas(1) 9 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204) GACATGGGAAGAAGGTCTGAT 0.403 NA 35 146 0 0 0 0 SATB2 23314 broad.mit.edu 37 2 200173562 200173562 + Missense_Mutation SNP A A G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:200173562A>G uc002uuy.1 - 10 2478 c.1661T>C c.(1660-1662)GTC>GCC p.V554A SATB2_uc010fsq.1_Missense_Mutation_p.V436A|SATB2_uc002uuz.1_Missense_Mutation_p.V554A|SATB2_uc002uva.1_Missense_Mutation_p.V554A NM_015265 NP_056080 Q9UPW6 SATB2_HUMAN SATB homeobox 2 554 CUT 2. cytoplasm|nuclear matrix sequence-specific DNA binding transcription factor activity ovary(1) 1 CTCATAGATGACATCCCTCTC 0.597 NA 21 76 0 0 0 0 BMPR2 659 broad.mit.edu 37 2 203395617 203395617 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:203395617G>A uc002uzf.3 + 8 2216 c.1068G>A c.(1066-1068)ATG>ATA p.M356I BMPR2_uc010ftr.2_Missense_Mutation_p.M356I NM_001204 NP_001195 Q13873 BMPR2_HUMAN bone morphogenetic protein receptor type II 356 Protein kinase.|Cytoplasmic (Potential). anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway integral to plasma membrane ATP binding|metal ion binding|transforming growth factor beta receptor activity ovary(4)|breast(2)|large_intestine(1)|stomach(1)|pancreas(1) 9 GACTGTCCATGAGGCTGACTG 0.418 NA 9 23 0 0 0 0 GPR1 2825 broad.mit.edu 37 2 207041250 207041250 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:207041250G>C uc002vbl.3 - 3 1108 c.722C>G c.(721-723)TCC>TGC p.S241C GPR1_uc010fue.2_Missense_Mutation_p.S241C|GPR1_uc010fuf.2_Missense_Mutation_p.S241C NM_005279 NP_005270 P46091 GPR1_HUMAN G protein-coupled receptor 1 241 Cytoplasmic (Potential). integral to plasma membrane G-protein coupled receptor activity 0 Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888) UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184) ATGCCTACTGGAGATCAGGAT 0.443 NA 7 38 0 0 0 0 CXCR2 3579 broad.mit.edu 37 2 219000410 219000410 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:219000410C>T uc002vgz.1 + 4 1111 c.886C>T c.(886-888)CTG>TTG p.L296L CXCR2_uc002vha.1_Silent_p.L296L|CXCR2_uc002vhb.1_Silent_p.L296L NM_001557 NP_001548 P25025 CXCR2_HUMAN interleukin 8 receptor beta 296 Helical; Name=7; (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation cell surface|integral to plasma membrane|mast cell granule interleukin-8 receptor activity lung(1)|breast(1) 2 CGACCGGGCTCTGGATGCCAC 0.587 NA 34 74 0 0 0 0 PRKAG3 53632 broad.mit.edu 37 2 219695504 219695504 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:219695504G>A uc002vjb.1 - 3 213 c.194C>T c.(193-195)TCG>TTG p.S65L PRKAG3_uc010zkn.1_RNA|PRKAG3_uc010fvy.1_Missense_Mutation_p.S65L|PRKAG3_uc010zko.1_Missense_Mutation_p.S65L NM_017431 NP_059127 Q9UGI9 AAKG3_HUMAN AMP-activated protein kinase, non-catalytic 65 cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation cytosol AMP-activated protein kinase activity|protein kinase binding ovary(1)|lung(1) 2 Renal(207;0.0474) Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TTCCTCCACCGACTTCTGCCT 0.607 NA 28 61 0 0 0 0 ANKZF1 55139 broad.mit.edu 37 2 220099962 220099962 + Missense_Mutation SNP A A T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:220099962A>T uc002vkg.2 + 10 1793 c.1619A>T c.(1618-1620)CAT>CTT p.H540L ANKZF1_uc010zkv.1_3'UTR|ANKZF1_uc010zkw.1_3'UTR|ANKZF1_uc002vkh.2_Missense_Mutation_p.H330L|ANKZF1_uc002vki.2_Missense_Mutation_p.H540L|ANKZF1_uc002vkj.1_3'UTR NM_018089 NP_060559 Q9H8Y5 ANKZ1_HUMAN ankyrin repeat and zinc finger domain containing 540 ANK 2. intracellular zinc ion binding ovary(2) 2 Renal(207;0.0474) Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ACTCTCCTGCATGCAGCAGCT 0.587 NA 28 60 0 0 0 0 ANKZF1 55139 broad.mit.edu 37 2 220101166 220101166 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:220101166G>A uc002vkg.2 + 14 2354 c.2180G>A c.(2179-2181)TGA>TAA p.*727* ANKZF1_uc002vkh.2_Silent_p.*517*|ANKZF1_uc002vki.2_Silent_p.*727* NM_018089 NP_060559 Q9H8Y5 ANKZ1_HUMAN ankyrin repeat and zinc finger domain containing 727 intracellular zinc ion binding ovary(2) 2 Renal(207;0.0474) Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCCTCTTCCTGATCTCTTACA 0.557 NA 12 38 0 0 0 0 TMEM198 130612 broad.mit.edu 37 2 220412742 220412742 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:220412742C>T uc002vme.2 + 4 1266 c.681C>T c.(679-681)CTC>CTT p.L227L TMEM198_uc002vmf.2_Silent_p.L227L NM_001005209 NP_001005209 Q66K66 TM198_HUMAN transmembrane protein 198 227 Leu-rich.|Helical; (Potential). integral to membrane ovary(1) 1 Renal(207;0.0376) Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802) GGCCCCTGCTCAGCCTGATGG 0.667 NA 3 12 0 0 0 0 MOGAT1 116255 broad.mit.edu 37 2 223559247 223559247 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:223559247G>C uc010fws.1 + 4 693 c.645G>C c.(643-645)TTG>TTC p.L215F MOGAT1_uc010fwt.1_Missense_Mutation_p.L175F NM_058165 NP_477513 Q96PD6 MOGT1_HUMAN monoacylglycerol O-acyltransferase 1 215 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) AAATTGCTTTGACCCATGGGT 0.413 NA 10 23 0 0 0 0 SLC16A14 151473 broad.mit.edu 37 2 230902183 230902183 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:230902183C>G uc002vqd.1 - 5 1809 c.1446G>C c.(1444-1446)ATG>ATC p.M482I FBXO36_uc010fxi.1_Intron NM_152527 NP_689740 Q7RTX9 MOT14_HUMAN solute carrier family 16 (monocarboxylic acid 482 Helical; (Potential). integral to membrane|plasma membrane symporter activity ovary(4)|skin(2) 6 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948) GTATTCCTATCATGTAAAGCA 0.328 NA 6 31 0 0 0 0 C2orf57 165100 broad.mit.edu 37 2 232458485 232458485 + Missense_Mutation SNP T T C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:232458485T>C uc002vrz.2 + 1 874 c.823T>C c.(823-825)TCC>CCC p.S275P NM_152614 NP_689827 Q53QW1 CB057_HUMAN hypothetical protein LOC165100 275 ovary(1) 1 Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014) CTACATGCGCTCCATGACCAG 0.662 NA 3 88 0 0 0 0 DIS3L2 129563 broad.mit.edu 37 2 233001212 233001212 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:233001212C>G uc010fxz.2 + 8 1009 c.733C>G c.(733-735)CGA>GGA p.R245G DIS3L2_uc002vsm.3_RNA|DIS3L2_uc002vso.2_RNA NM_152383 NP_689596 Q8IYB7 DI3L2_HUMAN DIS3 mitotic control homolog (S. 245 exonuclease activity|ribonuclease activity|RNA binding ovary(1)|breast(1)|central_nervous_system(1) 3 all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136) Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149) AAAACATTCTCGAGCAGCAAC 0.433 NA 21 85 0 0 0 0 ALPI 248 broad.mit.edu 37 2 233321905 233321905 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:233321905C>T uc002vst.3 + 5 598 c.521C>T c.(520-522)TCG>TTG p.S174L ALPI_uc002vsu.3_Missense_Mutation_p.S85L NM_001631 NP_001622 P09923 PPBI_HUMAN intestinal alkaline phosphatase precursor 174 phosphorylation anchored to membrane|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding|protein binding central_nervous_system(1) 1 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746) CAGCACGCCTCGCCAGCCGGC 0.627 NA 16 50 0 0 0 0 INPP5D 3635 broad.mit.edu 37 2 234091127 234091127 + Missense_Mutation SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:234091127C>A uc010zmo.1 + 18 2296 c.2143C>A c.(2143-2145)CAG>AAG p.Q715K INPP5D_uc010zmp.1_Missense_Mutation_p.Q714K NM_001017915 NP_001017915 Q92835 SHIP1_HUMAN SH2 containing inositol phosphatase isoform a 715 apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway cytosol inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding ovary(1)|central_nervous_system(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) AGTCACTTCCCAGTTTGTCTC 0.507 NA 18 65 1.34e-09 1.43e-09 1 0 TBC1D20 128637 broad.mit.edu 37 20 428599 428599 + Nonsense_Mutation SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr20:428599C>A uc002wds.2 - 2 328 c.190G>T c.(190-192)GAG>TAG p.E64* TBC1D20_uc002wdv.2_5'UTR|TBC1D20_uc002wdt.2_RNA|TBC1D20_uc002wdu.2_RNA NM_144628 NP_653229 Q96BZ9 TBC20_HUMAN TBC1 domain family, member 20 64 Rab-GAP TBC. interspecies interaction between organisms integral to membrane|intracellular Rab GTPase activator activity central_nervous_system(1) 1 all_epithelial(17;0.228)|Breast(17;0.231) CGTCTGATCTCATCAGTCAGG 0.532 NA 13 47 6.32e-08 6.72e-08 1 0 TMC2 117532 broad.mit.edu 37 20 2560666 2560666 + Silent SNP T T A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr20:2560666T>A uc002wgf.1 + 7 813 c.798T>A c.(796-798)CTT>CTA p.L266L TMC2_uc002wgg.1_Silent_p.L250L|TMC2_uc010zpw.1_Silent_p.L98L|TMC2_uc010zpx.1_Silent_p.L97L NM_080751 NP_542789 Q8TDI7 TMC2_HUMAN transmembrane cochlear-expressed protein 2 266 Helical; (Potential). integral to membrane ovary(3) 3 ACCTTGTCCTTTTTGGCTTAA 0.393 NA 6 82 0 0 0 0 C20orf194 25943 broad.mit.edu 37 20 3299010 3299010 + Missense_Mutation SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr20:3299010C>A uc002wii.2 - 17 1445 c.1394G>T c.(1393-1395)GGA>GTA p.G465V C20orf194_uc002wij.3_Missense_Mutation_p.G204V|C20orf194_uc002wik.2_Missense_Mutation_p.G139V NM_001009984 NP_001009984 Q5TEA3 CT194_HUMAN hypothetical protein LOC25943 465 0 ACCATTGCCTCCCAGTAAGTC 0.388 NA 25 61 3.73e-12 4.02e-12 1 0 PRND 23627 broad.mit.edu 37 20 4705248 4705248 + Silent SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr20:4705248C>G uc002wkz.2 + 2 122 c.51C>G c.(49-51)CTC>CTG p.L17L NM_012409 NP_036541 Q9UKY0 PRND_HUMAN prion-like protein doppel preproprotein 17 protein homooligomerization anchored to membrane|plasma membrane 0 GCATGCTGCTCTTCAGCCACC 0.632 NA 23 64 0 0 0 0 DTD1 92675 broad.mit.edu 37 20 18724748 18724748 + Nonsense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr20:18724748C>G uc002wrf.3 + 5 643 c.482C>G c.(481-483)TCA>TGA p.S161* NM_080820 NP_543010 Q8TEA8 DTD1_HUMAN D-tyrosyl-tRNA deacylase 1 161 D-amino acid catabolic process cytoplasm hydrolase activity, acting on ester bonds ovary(2) 2 aatCAGCTGTCAAAGCTCGAA 0.408 NA 5 8 0 0 0 0 MYH7B 57644 broad.mit.edu 37 20 33567491 33567491 + Nonsense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr20:33567491C>T uc010gfa.1 + 4 347 c.226C>T c.(226-228)CAG>TAG p.Q76* MYH7B_uc002xbi.1_Nonsense_Mutation_p.Q118* A7E2Y1 MYH7B_HUMAN RecName: Full=Myosin-7B; AltName: Full=Myosin heavy chain 7B, cardiac muscle beta isoform; AltName: Full=Myosin cardiac muscle beta chain; AltName: Full=Antigen MLAA-21; AltName: Full=Slow A MYH14; 76 membrane|myosin filament actin binding|ATP binding|motor activity ovary(1)|breast(1) 2 BRCA - Breast invasive adenocarcinoma(18;0.00691) AGCCGAGCTGCAGCCCATGAA 0.647 NA 25 87 0 0 0 0 CEP250 11190 broad.mit.edu 37 20 34054793 34054793 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr20:34054793C>T uc002xcm.2 + 9 1166 c.495C>T c.(493-495)TTC>TTT p.F165F CEP250_uc010zve.1_5'UTR|CEP250_uc010gfe.1_RNA|CEP250_uc010zvd.1_RNA|CEP250_uc002xco.2_5'UTR NM_007186 NP_009117 Q9BV73 CP250_HUMAN centrosomal protein 2 165 centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding ovary(4)|central_nervous_system(1) 5 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) ACACACAGTTCTTCAAGGGCT 0.522 NA 18 42 0 0 0 0 CEP250 11190 broad.mit.edu 37 20 34054830 34054830 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr20:34054830C>T uc002xcm.2 + 9 1203 c.532C>T c.(532-534)CTC>TTC p.L178F CEP250_uc010zve.1_5'UTR|CEP250_uc010gfe.1_RNA|CEP250_uc010zvd.1_RNA|CEP250_uc002xco.2_5'UTR NM_007186 NP_009117 Q9BV73 CP250_HUMAN centrosomal protein 2 178 centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding ovary(4)|central_nervous_system(1) 5 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) CGGTCGCCTTCTCAGTCTATG 0.532 NA 17 45 0 0 0 0 CEP250 11190 broad.mit.edu 37 20 34054880 34054880 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr20:34054880G>C uc002xcm.2 + 9 1253 c.582G>C c.(580-582)ATG>ATC p.M194I CEP250_uc010zve.1_5'UTR|CEP250_uc010gfe.1_RNA|CEP250_uc010zvd.1_RNA|CEP250_uc002xco.2_Missense_Mutation_p.M1I NM_007186 NP_009117 Q9BV73 CP250_HUMAN centrosomal protein 2 194 centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding ovary(4)|central_nervous_system(1) 5 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) TCCTGGAAATGAAGTCAGCTA 0.527 NA 16 45 0 0 0 0 SPAG4 6676 broad.mit.edu 37 20 34206846 34206846 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr20:34206846G>C uc002xdb.1 + 8 836 c.719G>C c.(718-720)AGA>ACA p.R240T SPAG4_uc010zvi.1_Missense_Mutation_p.R163T NM_003116 NP_003107 Q9NPE6 SPAG4_HUMAN sperm associated antigen 4 240 Potential. spermatogenesis cilium|flagellar axoneme|integral to membrane structural molecule activity 0 Lung NSC(9;0.0053)|all_lung(11;0.00785) BRCA - Breast invasive adenocarcinoma(18;0.0127) TCCTTGCAGAGAGTGGCCAAG 0.582 NA 14 57 0 0 0 0 DLGAP4 22839 broad.mit.edu 37 20 35155390 35155390 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr20:35155390G>C uc002xff.2 + 13 3361 c.2926G>C c.(2926-2928)GAC>CAC p.D976H DLGAP4_uc010zvp.1_Missense_Mutation_p.D976H|DLGAP4_uc002xfg.2_Missense_Mutation_p.D272H|DLGAP4_uc002xfh.2_Missense_Mutation_p.D440H|DLGAP4_uc002xfi.2_3'UTR|DLGAP4_uc002xfj.2_Missense_Mutation_p.D272H|uc002xfk.3_Intron NM_014902 NP_055717 Q9Y2H0 DLGP4_HUMAN disks large-associated protein 4 isoform a 979 cell-cell signaling membrane protein binding skin(2)|ovary(1) 3 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) CGAGAGCGCAGACAGCATCGA 0.557 NA 10 50 0 0 0 0 SDC4 6385 broad.mit.edu 37 20 43964468 43964468 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr20:43964468G>A uc002xnu.2 - 2 193 c.153C>T c.(151-153)CCC>CCT p.P51P SDC4_uc010zws.1_Intron NM_002999 NP_002990 P31431 SDC4_HUMAN syndecan 4 precursor 51 Extracellular (Potential). extracellular region|integral to plasma membrane cytoskeletal protein binding|thrombospondin receptor activity 0 Myeloproliferative disorder(115;0.0122) ATTCCTGCCCGGGCCCCACTA 0.582 NA 31 47 0 0 0 0 NFATC2 4773 broad.mit.edu 37 20 50140540 50140540 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr20:50140540G>A uc002xwd.2 - 2 460 c.240C>T c.(238-240)GGC>GGT p.G80G NFATC2_uc002xwc.2_Silent_p.G80G|NFATC2_uc010zyv.1_Intron|NFATC2_uc010zyw.1_Intron|NFATC2_uc010zyx.1_Silent_p.G60G|NFATC2_uc010zyy.1_Intron|NFATC2_uc010zyz.1_Intron|NFATC2_uc002xwe.2_Silent_p.G60G NM_173091 NP_775114 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, 80 B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 Hepatocellular(150;0.248) CGGGGGGCTCGCCAGAGAGAC 0.657 NA 22 75 0 0 0 0 LSM14B 149986 broad.mit.edu 37 20 60706468 60706468 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr20:60706468G>A uc010gjy.1 + 7 1098 c.892G>A c.(892-894)GAA>AAA p.E298K LSM14B_uc002ybv.2_Missense_Mutation_p.E272K|LSM14B_uc010zzz.1_Missense_Mutation_p.E218K NM_144703 NP_653304 Q9BX40 LS14B_HUMAN LSM14 homolog B 298 multicellular organismal development|regulation of translation ribonucleoprotein complex 0 Breast(26;3.97e-09) BRCA - Breast invasive adenocarcinoma(19;1.28e-07) CCAGAGTGCCGAAGCGCCCGC 0.537 NA 7 27 0 0 0 0 GTPBP5 26164 broad.mit.edu 37 20 60775858 60775858 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr20:60775858G>C uc002yce.3 + 7 984 c.946G>C c.(946-948)GAG>CAG p.E316Q GTPBP5_uc011aab.1_Missense_Mutation_p.E88Q|GTPBP5_uc011aac.1_Missense_Mutation_p.E88Q|GTPBP5_uc011aad.1_Missense_Mutation_p.E88Q|GTPBP5_uc011aae.1_Missense_Mutation_p.E88Q|GTPBP5_uc011aaf.1_Missense_Mutation_p.E158Q NM_015666 NP_056481 Q9H4K7 GTPB5_HUMAN GTP binding protein 5 316 G.|Localized in the mitocondria.|Not localized in the mitocondria. ribosome biogenesis mitochondrion GTP binding|GTPase activity|magnesium ion binding 0 Breast(26;3.52e-09) BRCA - Breast invasive adenocarcinoma(19;2.5e-08) TTCTCAGCCTGAGCCGTGGAC 0.547 NA 63 215 0 0 0 0 RTEL1 51750 broad.mit.edu 37 20 62298846 62298846 + Silent SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr20:62298846G>C uc002yfu.1 + 8 982 c.639G>C c.(637-639)CGG>CGC p.R213R RTEL1_uc011abc.1_RNA|RTEL1_uc002yft.1_Silent_p.R213R|RTEL1_uc011abd.1_Silent_p.R237R|RTEL1_uc002yfv.2_Silent_p.R263R|RTEL1_uc011abe.1_5'UTR|RTEL1_uc002yfw.2_RNA NM_016434 NP_057518 Q9NZ71 RTEL1_HUMAN regulator of telomere elongation helicase 1 213 Helicase ATP-binding. DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding 0 all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13) Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107) ACCTGTCCCGGAACCTGAAGC 0.572 NA 61 145 0 0 0 0 PCMTD2 55251 broad.mit.edu 37 20 62904683 62904683 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr20:62904683G>C uc002yil.3 + 6 1016 c.816G>C c.(814-816)AAG>AAC p.K272N PCMTD2_uc002yim.3_Missense_Mutation_p.K245N NM_018257 NP_060727 Q9NV79 PCMD2_HUMAN protein-L-isoaspartate (D-aspartate) 272 cytoplasm protein-L-isoaspartate (D-aspartate) O-methyltransferase activity 0 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) ACGGACTAAAGAACACCCCCA 0.493 NA 27 87 0 0 0 0 KRTAP27-1 643812 broad.mit.edu 37 21 31709486 31709486 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr21:31709486G>A uc002ynx.1 - 1 527 c.501C>T c.(499-501)AAC>AAT p.N167N NM_001077711 NP_001071179 Q3LI81 KR271_HUMAN keratin associated protein 27-1 167 intermediate filament ovary(2) 2 TGGATTCAGGGTTCTGAGACT 0.478 NA 31 78 0 0 0 0 TIAM1 7074 broad.mit.edu 37 21 32493057 32493057 + Missense_Mutation SNP T T C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr21:32493057T>C uc002yow.1 - 29 4877 c.4405A>G c.(4405-4407)AAA>GAA p.K1469E TIAM1_uc011adk.1_3'UTR|TIAM1_uc011adl.1_Missense_Mutation_p.K1409E NM_003253 NP_003244 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 1469 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity lung(3)|breast(3)|ovary(2)|large_intestine(2) 10 TGGGACTCTTTCTCCGGGCTG 0.577 NA 3 58 0 0 0 0 RUNX1 861 broad.mit.edu 37 21 36171624 36171624 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr21:36171624G>A uc002yuh.2 - 5 2438 c.860C>T c.(859-861)TCT>TTT p.S287F RUNX1_uc002yui.2_Missense_Mutation_p.S223F|RUNX1_uc010gmu.2_Missense_Mutation_p.S314F|RUNX1_uc010gmv.2_Missense_Mutation_p.S314F|RUNX1_uc002yuj.3_Missense_Mutation_p.S182F|RUNX1_uc002yuk.3_Missense_Mutation_p.S314F|RUNX1_uc002yul.1_Missense_Mutation_p.S79F|RUNX1_uc002yum.1_Missense_Mutation_p.S118F NM_001001890 NP_001001890 Q01196 RUNX1_HUMAN runt-related transcription factor 1 isoform 287 Pro/Ser/Thr-rich. Missing: No DNA-binding. myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent nucleus|nucleus ATP binding|calcium ion binding|DNA binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding p.Y287fs*197(1)|p.S314fs*168(1) haematopoietic_and_lymphoid_tissue(383)|lung(2)|ovary(1)|central_nervous_system(1) 387 AAGTTCTGCAGAGAGGGTTGT 0.532 NA T RPL22|MDS1|EVI1|CBFA2T3|CBFA2T1|ETV6|LAF4 AML|preB- ALL|T-ALL Platelet_disorder_associated_with_Myeloid_Malignancies 6 97 0 0 0 0 RUNX1 861 broad.mit.edu 37 21 36171681 36171681 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr21:36171681G>A uc002yuh.2 - 5 2381 c.803C>T c.(802-804)TCT>TTT p.S268F RUNX1_uc002yui.2_Missense_Mutation_p.S204F|RUNX1_uc010gmu.2_Missense_Mutation_p.S295F|RUNX1_uc010gmv.2_Missense_Mutation_p.S295F|RUNX1_uc002yuj.3_Missense_Mutation_p.S163F|RUNX1_uc002yuk.3_Missense_Mutation_p.S295F|RUNX1_uc002yul.1_Missense_Mutation_p.S60F|RUNX1_uc002yum.1_Missense_Mutation_p.S99F NM_001001890 NP_001001890 Q01196 RUNX1_HUMAN runt-related transcription factor 1 isoform 268 Pro/Ser/Thr-rich. Missing: No DNA-binding. myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent nucleus|nucleus ATP binding|calcium ion binding|DNA binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding haematopoietic_and_lymphoid_tissue(383)|lung(2)|ovary(1)|central_nervous_system(1) 387 TGGGTGCACAGAAGGAGAGGC 0.522 NA T RPL22|MDS1|EVI1|CBFA2T3|CBFA2T1|ETV6|LAF4 AML|preB- ALL|T-ALL Platelet_disorder_associated_with_Myeloid_Malignancies 7 79 0 0 0 0 ETS2 2114 broad.mit.edu 37 21 40191453 40191453 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr21:40191453G>A uc002yxg.2 + 8 1034 c.838G>A c.(838-840)GAG>AAG p.E280K ETS2_uc002yxf.2_Missense_Mutation_p.E420K NM_005239 NP_005230 P15036 ETS2_HUMAN v-ets erythroblastosis virus E26 oncogene 280 positive regulation of transcription, DNA-dependent|skeletal system development nucleus protein binding|sequence-specific DNA binding transcription factor activity ovary(1)|lung(1)|breast(1)|pancreas(1) 4 Prostate(19;6.33e-08)|all_epithelial(19;0.123) CGACTCCCCTGAGAACGGTGC 0.557 NA 46 34 0 0 0 0 ETS2 2114 broad.mit.edu 37 21 40194646 40194646 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr21:40194646G>A uc002yxg.2 + 10 1439 c.1243G>A c.(1243-1245)GAG>AAG p.E415K ETS2_uc002yxf.2_Missense_Mutation_p.E555K NM_005239 NP_005230 P15036 ETS2_HUMAN v-ets erythroblastosis virus E26 oncogene 415 ETS. positive regulation of transcription, DNA-dependent|skeletal system development nucleus protein binding|sequence-specific DNA binding transcription factor activity ovary(1)|lung(1)|breast(1)|pancreas(1) 4 Prostate(19;6.33e-08)|all_epithelial(19;0.123) GATGAACTACGAGAAGCTGAG 0.493 NA 60 44 0 0 0 0 ETS2 2114 broad.mit.edu 37 21 40194812 40194812 + Nonstop_Mutation SNP G G T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr21:40194812G>T uc002yxg.2 + 10 1605 c.1409G>T c.(1408-1410)TGA>TTA p.*470L ETS2_uc002yxf.2_Nonstop_Mutation_p.*610L NM_005239 NP_005230 P15036 ETS2_HUMAN v-ets erythroblastosis virus E26 oncogene 470 positive regulation of transcription, DNA-dependent|skeletal system development nucleus protein binding|sequence-specific DNA binding transcription factor activity ovary(1)|lung(1)|breast(1)|pancreas(1) 4 Prostate(19;6.33e-08)|all_epithelial(19;0.123) ACGGAGGACTGAGGTCGCCGG 0.657 NA 31 11 1.75e-11 1.88e-11 1 0 PSMG1 8624 broad.mit.edu 37 21 40549373 40549373 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr21:40549373C>G uc002yxi.2 - 6 909 c.780G>C c.(778-780)AAG>AAC p.K260N PSMG1_uc002yxj.2_Missense_Mutation_p.K239N|PSMG1_uc010gob.2_Missense_Mutation_p.K173N NM_003720 NP_003711 O95456 PSMG1_HUMAN Down syndrome critical region protein 2 isoform 260 proteasome assembly endoplasmic reticulum protein binding 0 Prostate(19;8.44e-08) TAACCAAACCCTTCAAGCTTC 0.323 NA 8 21 0 0 0 0 FAM3B 54097 broad.mit.edu 37 21 42694889 42694889 + Missense_Mutation SNP G G T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr21:42694889G>T uc002yzb.1 + 2 205 c.59G>T c.(58-60)TGT>TTT p.C20F FAM3B_uc002yza.2_RNA|FAM3B_uc002yzc.1_Intron|FAM3B_uc002yzd.1_Missense_Mutation_p.C43F|FAM3B_uc011aeq.1_Missense_Mutation_p.C34F NM_058186 NP_478066 P58499 FAM3B_HUMAN family with sequence similarity 3, member B 20 apoptosis|insulin secretion extracellular space cytokine activity 0 Prostate(19;1.57e-07)|all_epithelial(19;0.0404) GCCTCCTTGTGTGCCTGGTAT 0.622 NA 9 44 0.000442599 0.000458503 1 0 RRP1B 23076 broad.mit.edu 37 21 45104516 45104516 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr21:45104516C>G uc002zdk.2 + 10 1088 c.974C>G c.(973-975)TCC>TGC p.S325C RRP1B_uc002zdl.2_5'Flank NM_015056 NP_055871 Q14684 RRP1B_HUMAN ribosomal RNA processing 1 homolog B 325 rRNA processing cytosol|nucleolus|preribosome, small subunit precursor protein binding skin(1) 1 STAD - Stomach adenocarcinoma(101;0.178) AAGCGCCTCTCCAAACTCATC 0.488 NA 4 44 0 0 0 0 KRTAP10-1 386677 broad.mit.edu 37 21 45959218 45959218 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr21:45959218G>A uc002zfh.1 - 1 861 c.816C>T c.(814-816)CTC>CTT p.L272L C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198691 NP_941964 P60331 KR101_HUMAN keratin associated protein 10-1 272 keratin filament skin(1) 1 CGGGGCGGCAGAGGAGGGACA 0.726 NA 12 22 0 0 0 0 KRTAP10-1 386677 broad.mit.edu 37 21 45959660 45959660 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr21:45959660G>C uc002zfh.1 - 1 419 c.374C>G c.(373-375)TCT>TGT p.S125C C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198691 NP_941964 P60331 KR101_HUMAN keratin associated protein 10-1 125 10.|24 X 5 AA repeats of C-C-X(3). keratin filament skin(1) 1 CTGGCAGCTAGACTGCTGGCA 0.373 NA 32 113 0 0 0 0 KRTAP10-1 386677 broad.mit.edu 37 21 45959828 45959828 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr21:45959828G>A uc002zfh.1 - 1 251 c.206C>T c.(205-207)TCA>TTA p.S69L C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198691 NP_941964 P60331 KR101_HUMAN keratin associated protein 10-1 69 24 X 5 AA repeats of C-C-X(3). keratin filament skin(1) 1 GGTGCAGCCTGATTGGCAGGG 0.498 NA 20 75 0 0 0 0 KRTAP10-4 386672 broad.mit.edu 37 21 45994519 45994519 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr21:45994519C>G uc002zfk.1 + 1 914 c.884C>G c.(883-885)TCT>TGT p.S295C C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198687 NP_941960 P60372 KR104_HUMAN keratin associated protein 10-4 295 36 X 5 AA repeats of C-C-X(3). keratin filament 0 GGGGCTTCCTCTCTGTGCTGC 0.637 NA 13 181 0 0 0 0 PCNT 5116 broad.mit.edu 37 21 47773920 47773920 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr21:47773920G>A uc002zji.3 + 11 1806 c.1699G>A c.(1699-1701)GAA>AAA p.E567K PCNT_uc002zjj.2_Missense_Mutation_p.E449K NM_006031 NP_006022 O95613 PCNT_HUMAN pericentrin 567 Glu-rich. cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding ovary(4)|breast(2)|pancreas(2) 8 Breast(49;0.112) TGTGGGTTTAGAAGAGAAACC 0.498 NA 3 14 0 0 0 0 XKR3 150165 broad.mit.edu 37 22 17288751 17288751 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr22:17288751G>A uc002zlv.2 - 2 311 c.213C>T c.(211-213)ATC>ATT p.I71I XKR3_uc011agf.1_Silent_p.I71I NM_175878 NP_787074 Q5GH77 XKR3_HUMAN X Kell blood group precursor-related family, 71 Helical; (Potential). integral to membrane|plasma membrane large_intestine(1)|ovary(1)|skin(1) 3 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) TAATAAAGCTGATGGTAAATG 0.358 NA 16 46 0 0 0 0 CECR2 27443 broad.mit.edu 37 22 17956654 17956654 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr22:17956654G>C uc010gqw.1 + 1 151 c.25G>C c.(25-27)GAT>CAT p.D9H CECR2_uc010gqv.1_5'UTR|CECR2_uc002zml.2_5'UTR NM_031413 NP_113601 Q9BXF3 CECR2_HUMAN cat eye syndrome chromosome region, candidate 2 51 chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport protein binding ovary(1)|skin(1) 2 all_epithelial(15;0.139) Lung(27;0.146) TCTTCACAGAGATGACGTGGA 0.463 NA 22 57 0 0 0 0 SLC25A18 83733 broad.mit.edu 37 22 18072904 18072904 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr22:18072904G>A uc002zmp.1 + 11 1344 c.850G>A c.(850-852)GCT>ACT p.A284T SLC25A18_uc002zmq.1_Missense_Mutation_p.A284T NM_031481 NP_113669 Q9H1K4 GHC2_HUMAN solute carrier 284 Solcar 3. integral to membrane|mitochondrial inner membrane binding|symporter activity 0 Lung(27;0.124) L-Glutamic Acid(DB00142) CATGAAAGGCGCTGGCTGCCG 0.527 NA 19 81 0 0 0 0 BID 637 broad.mit.edu 37 22 18220787 18220787 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr22:18220787C>T uc002znd.1 - 5 742 c.572G>A c.(571-573)AGA>AAA p.R191K BID_uc002znc.1_Missense_Mutation_p.R237K|BID_uc002zne.1_Missense_Mutation_p.R95K|BID_uc010gra.1_RNA|BID_uc002znf.1_Missense_Mutation_p.R95K|BID_uc010grb.1_Missense_Mutation_p.R191K|BID_uc010grc.1_Missense_Mutation_p.R95K NM_001196 NP_001187 P55957 BID_HUMAN BH3 interacting domain death agonist isoform 2 191 activation of pro-apoptotic gene products|establishment of protein localization in membrane|induction of apoptosis by intracellular signals|induction of apoptosis via death domain receptors|neuron apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria|release of cytochrome c from mitochondria cytosol|membrane fraction|mitochondrial outer membrane death receptor binding 0 all_epithelial(15;0.198) Lung(27;0.0419) TCTTACATTTCTGGCTAAGCT 0.552 NA 24 66 0 0 0 0 TUBA8 51807 broad.mit.edu 37 22 18604368 18604368 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr22:18604368G>C uc002znv.1 + 2 199 c.126G>C c.(124-126)AAG>AAC p.K42N TUBA8_uc002znr.2_5'UTR|TUBA8_uc002znw.1_Missense_Mutation_p.K66N|TUBA8_uc002znu.1_Missense_Mutation_p.K42N NM_018943 NP_061816 Q9NY65 TBA8_HUMAN tubulin, alpha 8 42 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity 0 AAGCTAGCAAGATCAACGATG 0.552 NA 12 53 0 0 0 0 TUBA8 51807 broad.mit.edu 37 22 18604405 18604405 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr22:18604405G>A uc002znv.1 + 2 236 c.163G>A c.(163-165)GAG>AAG p.E55K TUBA8_uc002znr.2_5'UTR|TUBA8_uc002znw.1_Missense_Mutation_p.E79K|TUBA8_uc002znu.1_Missense_Mutation_p.E55K NM_018943 NP_061816 Q9NY65 TBA8_HUMAN tubulin, alpha 8 55 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity 0 CTTTTTCAGCGAGACTGGCAA 0.557 NA 9 56 0 0 0 0 CLTCL1 8218 broad.mit.edu 37 22 19207486 19207486 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr22:19207486C>T uc002zpb.2 - 18 2902 c.2827G>A c.(2827-2829)GAG>AAG p.E943K CLTCL1_uc011agv.1_Missense_Mutation_p.E943K|CLTCL1_uc011agw.1_Missense_Mutation_p.E943K NM_007098 NP_009029 P53675 CLH2_HUMAN clathrin, heavy polypeptide-like 1 isoform 1 943 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) TAGCGGGCCTCGCTTTTGAAC 0.552 NA T ? ALCL 38 130 0 0 0 0 PI4KA 5297 broad.mit.edu 37 22 21107310 21107310 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr22:21107310C>T uc002zsz.3 - 25 2925 c.2694G>A c.(2692-2694)AAG>AAA p.K898K NM_058004 NP_477352 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase type 3 alpha 898 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding lung(2)|upper_aerodigestive_tract(1)|salivary_gland(1) 4 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) TCTCCTTGGTCTTGGCCTAGA 0.537 NA 29 50 0 0 0 0 ZNF70 7621 broad.mit.edu 37 22 24086061 24086061 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr22:24086061G>A uc002zxs.2 - 2 1728 c.1267C>T c.(1267-1269)CTG>TTG p.L423L ZNF70_uc002zxr.1_5'Flank NM_021916 NP_068735 Q9UC06 ZNF70_HUMAN zinc finger protein 70 423 C2H2-type 11. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 TTGCCGCACAGATTGCACACG 0.547 NA 59 119 0 0 0 0 ZNF70 7621 broad.mit.edu 37 22 24086776 24086776 + Silent SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr22:24086776G>C uc002zxs.2 - 2 1013 c.552C>G c.(550-552)CTC>CTG p.L184L ZNF70_uc002zxr.1_5'Flank NM_021916 NP_068735 Q9UC06 ZNF70_HUMAN zinc finger protein 70 184 C2H2-type 2. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 TCTGGTGCCTGAGCAGGTGGG 0.622 NA 13 48 0 0 0 0 UPB1 51733 broad.mit.edu 37 22 24911253 24911253 + Missense_Mutation SNP C C T rs144135211 TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr22:24911253C>T uc003aaf.2 + 6 827 c.706C>T c.(706-708)CGG>TGG p.R236W UPB1_uc003aae.2_Missense_Mutation_p.R168W|UPB1_uc011ajt.1_Missense_Mutation_p.R236W NM_016327 NP_057411 Q9UBR1 BUP1_HUMAN beta-ureidopropionase 236 CN hydrolase. pyrimidine base metabolic process|pyrimidine nucleoside catabolic process cytosol beta-ureidopropionase activity|metal ion binding ovary(2) 2 Colorectal(2;0.0339) TTGCTACGGGCGGCACCACCC 0.562 NA 26 64 0 0 0 0 ZNRF3 84133 broad.mit.edu 37 22 29445929 29445929 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr22:29445929G>A uc003aeg.2 + 8 1625 c.1460G>A c.(1459-1461)CGC>CAC p.R487H ZNRF3_uc003aeh.1_Missense_Mutation_p.R487H NM_032173 NP_115549 Q9ULT6 ZNRF3_HUMAN zinc and ring finger 3 587 Cytoplasmic (Potential). integral to membrane zinc ion binding ovary(1) 1 TCCACCTTCCGCAGCTCCCTC 0.637 NA 32 109 0 0 0 0 SMTN 6525 broad.mit.edu 37 22 31484020 31484020 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr22:31484020G>A uc003ajl.1 + 3 339 c.121G>A c.(121-123)GAG>AAG p.E41K SMTN_uc003ajk.1_Missense_Mutation_p.E41K|SMTN_uc003ajm.1_Missense_Mutation_p.E41K|SMTN_uc011ale.1_Missense_Mutation_p.E95K|SMTN_uc011alf.1_Missense_Mutation_p.E97K|SMTN_uc003ajn.1_Missense_Mutation_p.E33K|SMTN_uc011alg.1_5'Flank NM_006932 NP_008863 P53814 SMTN_HUMAN smoothelin isoform c 41 Potential. muscle organ development|smooth muscle contraction actin cytoskeleton|cytoplasm actin binding|structural constituent of muscle large_intestine(2)|pancreas(1) 3 GCAGCGGCAGGAGCTGGAGCG 0.652 NA 6 28 0 0 0 0 RFPL2 10739 broad.mit.edu 37 22 32587230 32587230 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr22:32587230C>T uc003amg.3 - 5 1602 c.666G>A c.(664-666)GAG>GAA p.E222E RFPL2_uc003ame.3_Silent_p.E161E|RFPL2_uc003amf.3_Silent_p.E132E|RFPL2_uc003amh.3_Silent_p.E132E NM_001098527 NP_001091997 O75678 RFPL2_HUMAN ret finger protein-like 2 isoform 2 222 B30.2/SPRY. zinc ion binding skin(1) 1 CGTCAAATCTCTCGGCAAGGT 0.582 NA 8 95 0 0 0 0 MYH9 4627 broad.mit.edu 37 22 36691644 36691645 + Missense_Mutation DNP TC TC AT TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr22:36691644_36691645TC>AT uc003apg.2 - 26 3622_3623 c.3391_3392GA>AT c.(3391-3393)GAG>ATG p.E1131M NM_002473 NP_002464 P35579 MYH9_HUMAN myosin, heavy polypeptide 9, non-muscle 1131 Potential. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1) 11 TTTCTGCTTCTCAGCTTTATTC 0.55 NA T ALK ALCL Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome Hereditary_Macrothrombocytopenia_MYH9-associated 7 37 0 0 0 0 TRIOBP 11078 broad.mit.edu 37 22 38120212 38120212 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr22:38120212C>G uc003atr.2 + 7 1920 c.1649C>G c.(1648-1650)ACA>AGA p.T550R TRIOBP_uc003atu.2_Missense_Mutation_p.T378R|TRIOBP_uc003atq.1_Missense_Mutation_p.T550R|TRIOBP_uc003ats.1_Missense_Mutation_p.T378R NM_001039141 NP_001034230 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein isoform 6 550 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) GACAACCCCACAACATCCTGT 0.597 NA 6 249 0 0 0 0 CBX7 23492 broad.mit.edu 37 22 39530549 39530549 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr22:39530549G>C uc003axb.2 - 5 544 c.455C>G c.(454-456)TCG>TGG p.S152W CBX7_uc003axc.2_Intron NM_175709 NP_783640 O95931 CBX7_HUMAN chromobox homolog 7 152 chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear chromatin|PcG protein complex ovary(1) 1 Melanoma(58;0.04) CTTCTTGCGCGAGAGCCGCAG 0.701 NA 6 20 0 0 0 0 ADSL 158 broad.mit.edu 37 22 40745953 40745953 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr22:40745953C>G uc003ayp.3 + 2 330 c.271C>G c.(271-273)CAC>GAC p.H91D ADSL_uc003ays.3_Missense_Mutation_p.H91D|ADSL_uc003ayq.3_Missense_Mutation_p.H91D|ADSL_uc003ayr.3_5'UTR|ADSL_uc003ayt.3_Missense_Mutation_p.H91D NM_000026 NP_000017 P30566 PUR8_HUMAN adenylosuccinate lyase isoform a 91 AMP biosynthetic process|protein tetramerization|purine base metabolic process cytosol (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity ovary(1) 1 TGTGATGGCTCACGTGCACAC 0.468 NA 4 74 0 0 0 0 ZC3H7B 23264 broad.mit.edu 37 22 41738568 41738568 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr22:41738568C>T uc003azw.2 + 12 1449 c.1233C>T c.(1231-1233)ATC>ATT p.I411I ZC3H7B_uc010gyl.1_Intron NM_017590 NP_060060 Q9UGR2 Z3H7B_HUMAN zinc finger CCCH-type containing 7B 427 interspecies interaction between organisms nucleus nucleic acid binding|protein binding|zinc ion binding central_nervous_system(1) 1 CCTTGCTCATCAAGAACCCCT 0.602 NA 4 47 0 0 0 0 PACSIN2 11252 broad.mit.edu 37 22 43272287 43272287 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr22:43272287C>G uc010gzg.2 - 10 1426 c.1204G>C c.(1204-1206)GAG>CAG p.E402Q PACSIN2_uc003bdg.3_Missense_Mutation_p.E402Q|PACSIN2_uc003bde.3_Missense_Mutation_p.E402Q|PACSIN2_uc003bdf.3_Missense_Mutation_p.E361Q NM_007229 NP_009160 Q9UNF0 PACN2_HUMAN protein kinase C and casein kinase substrate in 402 actin cytoskeleton organization|endocytosis cytoplasmic membrane-bounded vesicle transporter activity 0 Glioma(61;0.222) TTGTTAGACTCATCGTCTGAC 0.617 NA 14 51 0 0 0 0 KIAA1644 85352 broad.mit.edu 37 22 44681333 44681334 + Missense_Mutation DNP TC TC AT TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr22:44681333_44681334TC>AT uc003bet.2 - 4 706_707 c.573_574GA>AT c.(571-576)CTGATG>CTATTG p.M192L NM_001099294 NP_001092764 Q3SXP7 K1644_HUMAN hypothetical protein LOC85352 precursor 192 Cytoplasmic (Potential). integral to membrane ovary(1) 1 all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222) TGGAAGGTCATCAGCGGTGGGC 0.609 NA 19 71 0 0 0 0 KIAA1644 85352 broad.mit.edu 37 22 44681481 44681481 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr22:44681481C>T uc003bet.2 - 4 559 c.426G>A c.(424-426)ATG>ATA p.M142I NM_001099294 NP_001092764 Q3SXP7 K1644_HUMAN hypothetical protein LOC85352 precursor 142 Cytoplasmic (Potential). integral to membrane ovary(1) 1 all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222) GGTCCTGTTTCATCCATCGTC 0.652 NA 36 95 0 0 0 0 GTSE1 51512 broad.mit.edu 37 22 46704811 46704811 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr22:46704811G>A uc011aqy.1 + 4 945 c.733G>A c.(733-735)GGA>AGA p.G245R GTSE1_uc011aqz.1_Missense_Mutation_p.G92R NM_016426 NP_057510 Q9NYZ3 GTSE1_HUMAN G-2 and S-phase expressed 1 226 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process cytoplasmic microtubule ovary(1) 1 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00462) CTCTGTTAGAGGAAGAAGCAT 0.612 NA 20 71 0 0 0 0 SELO 83642 broad.mit.edu 37 22 50654234 50654234 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr22:50654234G>A uc011arr.1 + 6 1498 c.1440G>A c.(1438-1440)CTG>CTA p.L480L SELO_uc010hap.2_Silent_p.L291L|SELO_uc003bjy.2_Silent_p.L160L|SELO_uc003bjz.2_Missense_Mutation_p.D233N NM_031454 NP_113642 Q9BVL4 SELO_HUMAN selenoprotein O 480 0 all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.105) TGGCCAGGCTGATGGAGCAGT 0.587 NA 31 63 0 0 0 0 SAPS2 9701 broad.mit.edu 37 22 50845240 50845240 + Missense_Mutation SNP A A G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr22:50845240A>G uc003blb.1 + 5 772 c.350A>G c.(349-351)AAT>AGT p.N117S SAPS2_uc003bky.1_Missense_Mutation_p.N117S|SAPS2_uc003bkz.1_Missense_Mutation_p.N117S|SAPS2_uc003blc.2_Missense_Mutation_p.N117S|SAPS2_uc003bla.1_Missense_Mutation_p.N117S NM_014678 NP_055493 O75170 PP6R2_HUMAN SAPS domain family, member 2 117 cytoplasm|intracellular membrane-bounded organelle protein binding 0 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.222) CCGCCTCTCAATCCTCTGCTC 0.547 NA 88 257 0 0 0 0 SETD5 55209 broad.mit.edu 37 3 9517533 9517533 + Nonsense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:9517533C>T uc003brt.2 + 23 4522 c.4087C>T c.(4087-4089)CAG>TAG p.Q1363* SETD5_uc003bru.2_Nonsense_Mutation_p.Q1265*|SETD5_uc003brv.2_Nonsense_Mutation_p.Q1252*|SETD5_uc010hck.2_Nonsense_Mutation_p.Q845*|SETD5_uc003brx.2_Nonsense_Mutation_p.Q1032* NM_001080517 NP_001073986 Q9C0A6 SETD5_HUMAN SET domain containing 5 1363 Ser-rich. ovary(2) 2 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.112) TTCAGTTTCTCAGTCCAGCAC 0.552 NA 19 22 0 0 0 0 CRELD1 78987 broad.mit.edu 37 3 9979762 9979762 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:9979762C>T uc003bug.2 + 5 550 c.432C>T c.(430-432)CCC>CCT p.P144P CIDEC_uc003bto.2_Intron|CRELD1_uc003buf.2_Silent_p.P144P|CRELD1_uc003buh.2_Silent_p.P144P|CRELD1_uc003bui.2_Silent_p.P144P|CRELD1_uc003buj.2_RNA NM_001077415 NP_001070883 Q96HD1 CREL1_HUMAN cysteine-rich with EGF-like domains 1 isoform 3 144 Extracellular (Potential). cardiac septum development|endocardial cushion development integral to membrane calcium ion binding ovary(1) 1 TCTGCTGCCCCGCAGGCACCT 0.552 NA 5 20 0 0 0 0 METTL6 131965 broad.mit.edu 37 3 15467880 15467880 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:15467880G>C uc003bzs.1 - 2 397 c.139C>G c.(139-141)CTT>GTT p.L47V METTL6_uc011avp.1_Missense_Mutation_p.L47V|METTL6_uc003bzt.1_Missense_Mutation_p.L47V|EAF1_uc003bzu.2_5'Flank|EAF1_uc011avq.1_5'Flank NM_152396 NP_689609 Q8TCB7 METL6_HUMAN methyltransferase like 6 47 methyltransferase activity 0 TTGTAAAAAAGATCCCAATTT 0.373 NA 14 43 0 0 0 0 EFHB 151651 broad.mit.edu 37 3 19924047 19924047 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:19924047C>G uc003cbl.3 - 12 2519 c.2323G>C c.(2323-2325)GAA>CAA p.E775Q EFHB_uc003cbm.2_Missense_Mutation_p.E645Q NM_144715 NP_653316 Q8N7U6 EFHB_HUMAN EF hand domain family, member B 775 signal transduction proteinaceous extracellular matrix calcium ion binding 0 TATACCTCTTCTTTTGATCTG 0.299 NA 3 9 0 0 0 0 TGFBR2 7048 broad.mit.edu 37 3 30691947 30691947 + Nonsense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:30691947C>G uc003ceo.2 + 3 831 c.449C>G c.(448-450)TCA>TGA p.S150* TGFBR2_uc003cen.2_Nonsense_Mutation_p.S175* NM_003242 NP_003233 P37173 TGFR2_HUMAN transforming growth factor, beta receptor II 150 Extracellular (Potential). activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|vasculogenesis caveola|external side of plasma membrane ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1) 26 ATCATCTTCTCAGAAGGTGAG 0.433 NA 17 42 0 0 0 0 TRANK1 9881 broad.mit.edu 37 3 36897603 36897603 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:36897603C>G uc003cgj.2 - 3 2130 c.1828G>C c.(1828-1830)GAG>CAG p.E610Q NM_014831 NP_055646 O15050 TRNK1_HUMAN lupus brain antigen 1 1160 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(1)|central_nervous_system(1) 2 CTTTGTACCTCCTGGCACAGC 0.502 NA 8 117 0 0 0 0 XIRP1 165904 broad.mit.edu 37 3 39228635 39228635 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:39228635C>T uc003cjk.1 - 2 2523 c.2302G>A c.(2302-2304)GAG>AAG p.E768K XIRP1_uc003cji.2_Missense_Mutation_p.E768K|XIRP1_uc003cjj.2_Intron NM_194293 NP_919269 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 768 actin binding ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1) 8 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) GCTGCAGTCTCCTGGCTCTCT 0.642 NA 11 28 0 0 0 0 NKTR 4820 broad.mit.edu 37 3 42680839 42680839 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:42680839G>C uc003clo.2 + 13 3790 c.3643G>C c.(3643-3645)GAG>CAG p.E1215Q NKTR_uc003clm.1_Missense_Mutation_p.E962Q|NKTR_uc003clp.2_Missense_Mutation_p.E962Q|NKTR_uc011azp.1_Intron|NKTR_uc003clq.1_Missense_Mutation_p.E1105Q|NKTR_uc003clr.1_Missense_Mutation_p.E962Q|NKTR_uc003cls.2_Missense_Mutation_p.E915Q NM_005385 NP_005376 P30414 NKTR_HUMAN natural killer-tumor recognition sequence 1215 protein folding membrane cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity ovary(2)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(284;0.24) GGAGGTGGCTGAGAAGAGCCA 0.527 NA 21 43 0 0 0 0 NKTR 4820 broad.mit.edu 37 3 42680982 42680982 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:42680982G>C uc003clo.2 + 13 3933 c.3786G>C c.(3784-3786)TTG>TTC p.L1262F NKTR_uc003clm.1_Missense_Mutation_p.L1009F|NKTR_uc003clp.2_Missense_Mutation_p.L1009F|NKTR_uc011azp.1_Intron|NKTR_uc003clq.1_Missense_Mutation_p.L1152F|NKTR_uc003clr.1_Missense_Mutation_p.L1009F|NKTR_uc003cls.2_Missense_Mutation_p.L962F NM_005385 NP_005376 P30414 NKTR_HUMAN natural killer-tumor recognition sequence 1262 protein folding membrane cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity ovary(2)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(284;0.24) CACAAGGCTTGAGAATAGAAA 0.453 NA 27 42 0 0 0 0 PRKAR2A 5576 broad.mit.edu 37 3 48789027 48789027 + Silent SNP G G A rs143784793 byFrequency TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:48789027G>A uc010hki.1 - 11 1447 c.1206C>T c.(1204-1206)CTC>CTT p.L402L PRKAR2A_uc003cux.1_Silent_p.L402L|PRKAR2A_uc003cuy.1_Silent_p.L380L NM_004157 NP_004148 P13861 KAP2_HUMAN cAMP-dependent protein kinase, regulatory 402 cAMP 2. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport centrosome|cytosol|membrane fraction cAMP binding|cAMP-dependent protein kinase regulator activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000176)|Kidney(197;0.00246)|KIRC - Kidney renal clear cell carcinoma(197;0.00261) CCTACTGCCCGAGGTTGCCCA 0.522 NA 13 14 0 0 0 0 BSN 8927 broad.mit.edu 37 3 49702266 49702266 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:49702266C>T uc003cxe.3 + 10 11889 c.11775C>T c.(11773-11775)TTC>TTT p.F3925F NM_003458 NP_003449 Q9UPA5 BSN_HUMAN bassoon protein 3925 F -> L (in Ref. 1; AAC83555). synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) TTTCCTCATTCTGGTGACCAT 0.557 NA 30 69 0 0 0 0 DNAH1 25981 broad.mit.edu 37 3 52382931 52382931 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:52382931G>A uc011bef.1 + 13 2395 c.2134G>A c.(2134-2136)GGT>AGT p.G712S DNAH1_uc003ddt.1_Missense_Mutation_p.G712S NM_015512 NP_056327 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 712 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity large_intestine(3) 3 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CTTCATCAGCGGTGACCCCCT 0.617 NA 6 78 0 0 0 0 OR5H15 403274 broad.mit.edu 37 3 97887885 97887885 + Silent SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:97887885C>G uc011bgu.1 + 1 342 c.342C>G c.(340-342)CTC>CTG p.L114L NM_001005515 NP_001005515 A6NDH6 O5H15_HUMAN olfactory receptor, family 5, subfamily H, 114 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 AATGTTTTCTCTTGGCAACAA 0.378 NA 35 122 0 0 0 0 DCBLD2 131566 broad.mit.edu 37 3 98518364 98518364 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:98518364G>A uc003dtd.2 - 16 2543 c.2180C>T c.(2179-2181)TCA>TTA p.S727L DCBLD2_uc003dte.2_Missense_Mutation_p.S741L NM_080927 NP_563615 Q96PD2 DCBD2_HUMAN discoidin, CUB and LCCL domain containing 2 727 Cytoplasmic (Potential). cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing cell surface|integral to plasma membrane ovary(2)|central_nervous_system(1) 3 GGCCTGGGCTGAGGAGCAGCT 0.557 NA 68 233 0 0 0 0 FILIP1L 11259 broad.mit.edu 37 3 99649833 99649833 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:99649833G>A uc003dtm.2 - 2 495 c.32C>T c.(31-33)TCA>TTA p.S11L C3orf26_uc003dtk.1_Intron|C3orf26_uc003dtl.2_Intron|FILIP1L_uc003dto.2_Missense_Mutation_p.S11L|uc003dtq.2_5'Flank NM_182909 NP_878913 Q4L180 FIL1L_HUMAN filamin A interacting protein 1-like isoform 1 11 cytoplasm|membrane|myosin complex|nucleus ovary(1) 1 CTTTTGGGCTGAGCCCTCGGT 0.433 NA 9 44 0 0 0 0 C3orf26 84319 broad.mit.edu 37 3 99881149 99881149 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:99881149G>A uc003dtl.2 + 4 371 c.228G>A c.(226-228)AAG>AAA p.K76K NM_032359 NP_115735 Q9BQ75 CC026_HUMAN hypothetical protein LOC84319 76 ATP binding|ATP-dependent helicase activity|nucleic acid binding skin(1) 1 TATCTTAGAAGAAAATTACTG 0.383 NA 6 51 0 0 0 0 NFKBIZ 64332 broad.mit.edu 37 3 101572517 101572517 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:101572517G>A uc003dvp.2 + 5 1262 c.1147G>A c.(1147-1149)GAG>AAG p.E383K NFKBIZ_uc003dvo.2_Missense_Mutation_p.E283K|NFKBIZ_uc010hpo.2_Missense_Mutation_p.E283K|NFKBIZ_uc003dvq.2_Missense_Mutation_p.E261K NM_031419 NP_113607 Q9BYH8 IKBZ_HUMAN nuclear factor of kappa light polypeptide gene 383 Required for transcriptional activity (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(2) 2 CAGCGCCTGTGAGGCCATGGT 0.493 NA 21 124 0 0 0 0 CCDC80 151887 broad.mit.edu 37 3 112358405 112358405 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:112358405C>T uc003dzf.2 - 2 566 c.348G>A c.(346-348)GAG>GAA p.E116E CCDC80_uc011bhv.1_Silent_p.E116E|CCDC80_uc003dzg.2_Silent_p.E116E|CCDC80_uc003dzh.1_Silent_p.E116E NM_199512 NP_955806 Q76M96 CCD80_HUMAN steroid-sensitive protein 1 precursor 116 ovary(2) 2 CTCTGATCATCTCACGCGGAG 0.602 NA 27 108 0 0 0 0 KIAA1407 57577 broad.mit.edu 37 3 113753906 113753906 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:113753906C>G uc003eax.2 - 6 831 c.684G>C c.(682-684)CAG>CAC p.Q228H KIAA1407_uc011bin.1_RNA|KIAA1407_uc011bio.1_Missense_Mutation_p.Q206H|KIAA1407_uc011bip.1_Missense_Mutation_p.Q215H NM_020817 NP_065868 Q8NCU4 K1407_HUMAN hypothetical protein LOC57577 228 Potential. ovary(2) 2 GCACCAGACACTGAGCCTCCA 0.448 NA 21 120 0 0 0 0 GTF2E1 2960 broad.mit.edu 37 3 120499990 120499990 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:120499990G>C uc003edz.3 + 5 1107 c.993G>C c.(991-993)AAG>AAC p.K331N NM_005513 NP_005504 P29083 T2EA_HUMAN general transcription factor IIE, polypeptide 1, 331 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction nucleoplasm protein binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(114;0.159) ACGAGAAAAAGACTTCCTCTG 0.547 NA 9 63 0 0 0 0 KPNA1 3836 broad.mit.edu 37 3 122170899 122170899 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:122170899G>C uc003efd.1 - 7 613 c.577C>G c.(577-579)CTT>GTT p.L193V KPNA1_uc003efb.1_5'UTR|KPNA1_uc003efc.1_5'UTR|KPNA1_uc011bjr.1_5'UTR|KPNA1_uc010hrh.2_5'UTR|KPNA1_uc003efe.2_Missense_Mutation_p.L193V NM_002264 NP_002255 P52294 IMA1_HUMAN karyopherin alpha 1 193 ARM 3.|NLS binding site (major) (By similarity). DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle cytosol|nuclear pore|nucleoplasm nuclear localization sequence binding|protein binding|protein transporter activity 0 GBM - Glioblastoma multiforme(114;0.0898) ATGTTGCCAAGAGCCCAGACT 0.398 NA 42 176 0 0 0 0 ALDH1L1 10840 broad.mit.edu 37 3 125879726 125879726 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:125879726G>C uc003eim.1 - 2 287 c.97C>G c.(97-99)CCA>GCA p.P33A ALDH1L1_uc010hse.1_RNA|ALDH1L1_uc011bki.1_Missense_Mutation_p.P33A|ALDH1L1_uc010hsf.1_5'UTR|ALDH1L1_uc003eip.1_5'Flank|ALDH1L1_uc011bkj.1_5'UTR NM_012190 NP_036322 O75891 AL1L1_HUMAN aldehyde dehydrogenase 1 family, member L1 33 GART. 10-formyltetrahydrofolate catabolic process|biosynthetic process acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 GBM - Glioblastoma multiforme(114;0.0462) Tetrahydrofolic acid(DB00116) TCCTTGTCTGGAACAGTGAAC 0.572 NA 15 117 0 0 0 0 MCM2 4171 broad.mit.edu 37 3 127327234 127327234 + Nonsense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:127327234C>T uc003ejp.2 + 7 1168 c.1111C>T c.(1111-1113)CAG>TAG p.Q371* MCM2_uc011bkm.1_Nonsense_Mutation_p.Q241*|MCM2_uc010hsl.2_RNA|MCM2_uc011bkn.1_Nonsense_Mutation_p.Q255* NM_004526 NP_004517 P49736 MCM2_HUMAN minichromosome maintenance complex component 2 371 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle chromatin|MCM complex ATP binding|helicase activity|metal ion binding ovary(3)|skin(1) 4 GACCATCTATCAGAACTACCA 0.572 NA 68 229 0 0 0 0 TMEM108 66000 broad.mit.edu 37 3 133109176 133109176 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:133109176G>A uc003eph.2 + 5 1877 c.1603G>A c.(1603-1605)GAG>AAG p.E535K TMEM108_uc003epi.2_Missense_Mutation_p.E535K|TMEM108_uc003epk.2_Missense_Mutation_p.E65K|TMEM108_uc003epm.2_Missense_Mutation_p.E486K NM_023943 NP_076432 Q6UXF1 TM108_HUMAN transmembrane protein 108 precursor 535 Cytoplasmic (Potential). integral to membrane ovary(2)|skin(2) 4 TGAAACCTCTGAGGTAATGAG 0.493 NA 43 227 0 0 0 0 TRPC1 7220 broad.mit.edu 37 3 142443489 142443489 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:142443489G>A uc003evc.2 + 1 224 c.88G>A c.(88-90)GAG>AAG p.E30K TRPC1_uc003evb.2_Missense_Mutation_p.E30K NM_003304 NP_003295 P48995 TRPC1_HUMAN transient receptor potential cation channel, 30 Cytoplasmic (Potential). axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion cytosol|integral to plasma membrane protein binding|store-operated calcium channel activity ovary(2) 2 ctcGCCGAACGAGGTGATGGC 0.493 NA 12 65 0 0 0 0 SELT 51714 broad.mit.edu 37 3 150321201 150321201 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:150321201G>C uc011bnx.1 + 1 136 c.52G>C c.(52-54)GAG>CAG p.E18Q SERP1_uc003exz.2_5'Flank|uc003eye.1_5'Flank NM_016275 NP_057359 P62341 SELT_HUMAN selenoprotein T precursor 18 RSE -> WSD (in Ref. 4; AAH09611). cell redox homeostasis|selenocysteine incorporation selenium binding 0 LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) GGTCCGGAGCGAGGCCTCGGC 0.602 NA 7 29 0 0 0 0 PLCH1 23007 broad.mit.edu 37 3 155200497 155200497 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:155200497C>T uc011bok.1 - 23 3619 c.3342G>A c.(3340-3342)GAG>GAA p.E1114E PLCH1_uc011boj.1_3'UTR|PLCH1_uc011bol.1_Silent_p.E1076E NM_001130960 NP_001124432 Q4KWH8 PLCH1_HUMAN phospholipase C eta 1 isoform a 1114 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity skin(3)|ovary(1) 4 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) CCACAAAGTCCTCAGGATTAC 0.478 NA 28 112 0 0 0 0 VEPH1 79674 broad.mit.edu 37 3 157188282 157188282 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:157188282C>T uc003fbj.1 - 3 492 c.175G>A c.(175-177)GAA>AAA p.E59K VEPH1_uc003fbk.1_Missense_Mutation_p.E59K|VEPH1_uc010hvu.1_Missense_Mutation_p.E59K|VEPH1_uc003fbm.2_Missense_Mutation_p.E59K|VEPH1_uc003fbn.2_Missense_Mutation_p.E59K NM_024621 NP_078897 Q14D04 MELT_HUMAN ventricular zone expressed PH domain homolog 1 59 plasma membrane breast(3)|ovary(1)|lung(1) 5 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) ATACAGATTTCAACTACTGCC 0.408 NA 30 121 0 0 0 0 RSRC1 51319 broad.mit.edu 37 3 157920866 157920866 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:157920866G>A uc003fbt.2 + 4 437 c.326G>A c.(325-327)AGG>AAG p.R109K RSRC1_uc011bou.1_Intron|RSRC1_uc003fbu.1_Missense_Mutation_p.R109K|RSRC1_uc003fbv.2_Intron NM_016625 NP_057709 Q96IZ7 RSRC1_HUMAN arginine/serine-rich coiled-coil 1 109 Arg/Ser-rich. nucleocytoplasmic transport cytoplasm|nuclear speck protein binding 0 Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575) TGTAGGTCCAGGTCAAGACCT 0.393 NA 4 45 0 0 0 0 SMC4 10051 broad.mit.edu 37 3 160137327 160137327 + Missense_Mutation SNP G G T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:160137327G>T uc003fdh.2 + 12 1966 c.1853G>T c.(1852-1854)AGA>ATA p.R618I IFT80_uc003fda.2_Intron|SMC4_uc010hwc.1_Missense_Mutation_p.R382I|SMC4_uc003fdi.2_Missense_Mutation_p.R593I|SMC4_uc003fdj.2_Missense_Mutation_p.R618I|SMC4_uc010hwd.2_Missense_Mutation_p.R618I|SMC4_uc003fdl.2_Missense_Mutation_p.R321I NM_001002800 NP_001002800 Q9NTJ3 SMC4_HUMAN SMC4 structural maintenance of chromosomes 618 Flexible hinge. cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus ATP binding|protein heterodimerization activity ovary(1)|breast(1) 2 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) ATATATGGAAGATTGGTAAAG 0.353 NA 7 65 8.13e-05 8.47e-05 1 0 GPR160 26996 broad.mit.edu 37 3 169802027 169802027 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:169802027C>T uc003fgi.2 + 4 857 c.267C>T c.(265-267)TTC>TTT p.F89F GPR160_uc010hwq.2_Silent_p.F89F NM_014373 NP_055188 Q9UJ42 GP160_HUMAN G protein-coupled receptor 160 89 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity 0 all_cancers(22;3.26e-22)|all_epithelial(15;5.71e-27)|all_lung(20;8.41e-17)|Lung NSC(18;3.49e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655) GCATTAGGTTCACTAAATACC 0.303 NA 8 82 0 0 0 0 MRPL47 57129 broad.mit.edu 37 3 179306692 179306692 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:179306692G>C uc003fjz.2 - 7 743 c.721C>G c.(721-723)CTT>GTT p.L241V MRPL47_uc003fka.2_Missense_Mutation_p.L131V|MRPL47_uc003fkb.2_Missense_Mutation_p.L221V NM_020409 NP_065142 Q9HD33 RM47_HUMAN mitochondrial ribosomal protein L47 isoform a 241 translation mitochondrial ribosome structural constituent of ribosome 0 all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191) OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18) GCTTCAGCAAGATGTGGAAAC 0.343 NA 13 165 0 0 0 0 FXR1 8087 broad.mit.edu 37 3 180685868 180685868 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:180685868G>A uc003fkq.2 + 14 1250 c.1228G>A c.(1228-1230)GAA>AAA p.E410K FXR1_uc003fkp.2_Missense_Mutation_p.E325K|FXR1_uc003fkr.2_Missense_Mutation_p.E410K|FXR1_uc011bqj.1_Missense_Mutation_p.E324K|FXR1_uc003fks.2_Missense_Mutation_p.E353K|FXR1_uc011bqk.1_Missense_Mutation_p.E361K|FXR1_uc011bql.1_Missense_Mutation_p.E397K NM_005087 NP_005078 P51114 FXR1_HUMAN fragile X mental retardation-related protein 1 410 apoptosis|cell differentiation|muscle organ development nucleolus|polysome breast(1) 1 all_cancers(143;6.07e-14)|Ovarian(172;0.0212) Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22) TAACCCCTCTGAAACGGAATC 0.428 NA 24 161 0 0 0 0 MCF2L2 23101 broad.mit.edu 37 3 182897459 182897459 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:182897459C>G uc003fli.1 - 29 3217 c.3127G>C c.(3127-3129)GAC>CAC p.D1043H NM_015078 NP_055893 Q86YR7 MF2L2_HUMAN Rho family guanine-nucleotide exchange factor 1043 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity ovary(2)|large_intestine(2)|breast(1) 5 all_cancers(143;1.26e-12)|Ovarian(172;0.0355) all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) TGACTGTCGTCCGACTGGAAA 0.587 NA 22 225 0 0 0 0 AP2M1 1173 broad.mit.edu 37 3 183900581 183900581 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:183900581C>T uc011bqx.1 + 11 1255 c.1098C>T c.(1096-1098)ATC>ATT p.I366I AP2M1_uc003fmw.2_Silent_p.I364I|AP2M1_uc003fmx.2_Silent_p.I294I|AP2M1_uc003fmy.2_Silent_p.I364I|AP2M1_uc011bqy.1_Silent_p.I236I|AP2M1_uc011bqz.1_Silent_p.I182I NM_004068 NP_004059 Q96CW1 AP2M1_HUMAN adaptor-related protein complex 2, mu 1 subunit 366 MHD. axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane lipid binding|protein binding|transporter activity 0 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) AATCGCAGATCAGCGCAGAGA 0.542 NA 17 93 0 0 0 0 AHSG 197 broad.mit.edu 37 3 186338532 186338532 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:186338532G>C uc003fqk.3 + 7 998 c.917G>C c.(916-918)GGA>GCA p.G306A AHSG_uc003fql.3_Missense_Mutation_p.G307A|AHSG_uc003fqm.3_Missense_Mutation_p.G305A|AHSG_uc010hyp.2_Missense_Mutation_p.G269A NM_001622 NP_001613 P02765 FETUA_HUMAN alpha-2-HS-glycoprotein 306 acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development extracellular space cysteine-type endopeptidase inhibitor activity|protein binding 0 all_cancers(143;3.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.27e-20) GBM - Glioblastoma multiforme(93;0.0463) GCTCCTCCAGGACACCAGTTG 0.632 NA 105 167 0 0 0 0 HRG 3273 broad.mit.edu 37 3 186395631 186395631 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:186395631C>T uc003fqq.2 + 7 1560 c.1537C>T c.(1537-1539)CCA>TCA p.P513S NM_000412 NP_000403 P04196 HRG_HUMAN histidine-rich glycoprotein precursor 513 fibrinolysis|platelet activation|platelet degranulation extracellular region|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding ovary(1)|central_nervous_system(1) 2 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0683) GAGTGGGTTTCCACAAGTTTC 0.363 NA 33 88 0 0 0 0 LEPREL1 55214 broad.mit.edu 37 3 189681803 189681803 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:189681803C>T uc011bsk.1 - 14 2366 c.1978G>A c.(1978-1980)GGA>AGA p.G660R LEPREL1_uc003fsg.2_Missense_Mutation_p.G479R NM_018192 NP_060662 Q8IVL5 P3H2_HUMAN leprecan-like 1 isoform a 660 Fe2OG dioxygenase. collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation basement membrane|endoplasmic reticulum|Golgi apparatus iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity breast(3)|ovary(1) 4 all_cancers(143;4.01e-10)|Ovarian(172;0.0925) Lung(62;4.35e-05) GBM - Glioblastoma multiforme(93;0.02) L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) CACCTCTTTCCCTTGGTGACT 0.493 NA 26 151 0 0 0 0 ATP13A4 84239 broad.mit.edu 37 3 193185208 193185208 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:193185208C>G uc003ftd.2 - 10 1119 c.1011G>C c.(1009-1011)CAG>CAC p.Q337H ATP13A4_uc003fte.1_Missense_Mutation_p.Q337H|ATP13A4_uc011bsr.1_5'UTR|ATP13A4_uc010hzi.2_RNA|ATP13A4_uc003ftf.3_Missense_Mutation_p.Q43H NM_032279 NP_115655 Q4VNC1 AT134_HUMAN ATPase type 13A4 337 Extracellular (Potential). ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(2) 2 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) CCGCTTCACTCTGTGTTTTCC 0.502 NA 19 163 0 0 0 0 ATP13A3 79572 broad.mit.edu 37 3 194152469 194152469 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:194152469G>A uc003fty.3 - 21 2800 c.2398C>T c.(2398-2400)CAT>TAT p.H800Y ATP13A3_uc003ftz.1_Missense_Mutation_p.H506Y NM_024524 NP_078800 Q9H7F0 AT133_HUMAN ATPase type 13A3 800 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(1) 1 all_cancers(143;6.01e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;5.98e-05) GCTGATGGATGACTGCACTGC 0.388 NA 10 45 0 0 0 0 TMEM44 93109 broad.mit.edu 37 3 194309351 194309351 + Silent SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:194309351C>G uc010hzn.2 - 11 1504 c.1335G>C c.(1333-1335)GTG>GTC p.V445V TMEM44_uc010hzm.2_Nonstop_Mutation_p.*120S|TMEM44_uc003fuc.2_Silent_p.V130V|TMEM44_uc003fue.2_Silent_p.V398V|TMEM44_uc003fud.2_Silent_p.V409V|TMEM44_uc003fuf.2_Nonstop_Mutation_p.*397S|TMEM44_uc011bsv.1_Silent_p.V408V|uc003fug.2_5'Flank NM_001011655 NP_001011655 Q2T9K0 TMM44_HUMAN transmembrane protein 44 isoform b 445 Cytoplasmic (Potential). integral to membrane 0 all_cancers(143;1.41e-08)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;9.06e-06) CTTCGAGGTTCACATCTTCAG 0.498 NA 10 235 0 0 0 0 MUC4 4585 broad.mit.edu 37 3 195515905 195515905 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:195515905G>A uc011bto.1 - 2 3006 c.2546C>T c.(2545-2547)TCC>TTC p.S849F MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Missense_Mutation_p.S731F NM_018406 NP_060876 Q99102 MUC4_HUMAN mucin 4 isoform a 854 Ser-rich. cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity 0 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GGCTGAGGCGGACAGCAATTC 0.557 NA 13 109 0 0 0 0 TNK2 10188 broad.mit.edu 37 3 195595101 195595101 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:195595101C>G uc003fvu.1 - 12 2566 c.2023G>C c.(2023-2025)GAG>CAG p.E675Q TNK2_uc003fvq.1_Missense_Mutation_p.E82Q|TNK2_uc003fvr.1_Missense_Mutation_p.E200Q|TNK2_uc003fvs.1_Missense_Mutation_p.E707Q|TNK2_uc003fvt.1_Missense_Mutation_p.E753Q|TNK2_uc010hzw.1_RNA|TNK2_uc003fvv.1_3'UTR NM_005781 NP_005772 Q07912 ACK1_HUMAN tyrosine kinase, non-receptor, 2 isoform 1 675 Pro-rich. Missing (in Ref. 4; AAH08884). positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction adherens junction|cytoplasmic vesicle membrane|endosome|nucleus ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding ovary(3)|central_nervous_system(3)|lung(2)|stomach(1)|skin(1) 10 all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;0.000757) Adenosine triphosphate(DB00171) CGCGCCTGCTCAGGCACAAAG 0.682 NA 10 72 0 0 0 0 TNK2 10188 broad.mit.edu 37 3 195595308 195595308 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:195595308G>C uc003fvu.1 - 12 2359 c.1816C>G c.(1816-1818)CAG>GAG p.Q606E TNK2_uc003fvq.1_Missense_Mutation_p.Q13E|TNK2_uc003fvr.1_Missense_Mutation_p.Q131E|TNK2_uc003fvs.1_Missense_Mutation_p.Q638E|TNK2_uc003fvt.1_Missense_Mutation_p.Q684E|TNK2_uc010hzw.1_RNA|TNK2_uc003fvv.1_3'UTR NM_005781 NP_005772 Q07912 ACK1_HUMAN tyrosine kinase, non-receptor, 2 isoform 1 606 Pro-rich. Missing (in Ref. 4; AAH08884). positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction adherens junction|cytoplasmic vesicle membrane|endosome|nucleus ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding ovary(3)|central_nervous_system(3)|lung(2)|stomach(1)|skin(1) 10 all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;0.000757) Adenosine triphosphate(DB00171) GTGGGGCTCTGAGGCGGGGTC 0.766 NA 11 22 0 0 0 0 LRRC33 375387 broad.mit.edu 37 3 196386869 196386869 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:196386869G>A uc003fwv.2 + 3 459 c.355G>A c.(355-357)GAG>AAG p.E119K NM_198565 NP_940967 Q86YC3 LRC33_HUMAN leucine rich repeat containing 33 precursor 119 Extracellular (Potential).|LRR 3. integral to membrane ovary(2)|central_nervous_system(1) 3 all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00326) CTGCCTCTCAGAGAACTACGA 0.672 NA 7 51 0 0 0 0 DLG1 1739 broad.mit.edu 37 3 196792287 196792287 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:196792287C>T uc003fxo.3 - 23 2456 c.2266G>A c.(2266-2268)GAT>AAT p.D756N DLG1_uc011bub.1_Missense_Mutation_p.D652N|DLG1_uc011buc.1_Missense_Mutation_p.D640N|DLG1_uc011bud.1_Missense_Mutation_p.D439N|DLG1_uc003fxn.3_Missense_Mutation_p.D778N|DLG1_uc011bue.1_Missense_Mutation_p.D744N|DLG1_uc010ial.2_Missense_Mutation_p.D756N NM_001098424 NP_001091894 Q12959 DLG1_HUMAN discs, large homolog 1 isoform 1 756 Guanylate kinase-like. actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding ovary(3) 3 all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589) Lung NSC(153;0.133) Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.0148) TCTCTTCCATCTACCTCATAA 0.303 NA 7 135 0 0 0 0 KIAA0226 9711 broad.mit.edu 37 3 197427616 197427616 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:197427616C>G uc003fyc.2 - 7 1312 c.1129G>C c.(1129-1131)GAG>CAG p.E377Q KIAA0226_uc003fyd.3_Missense_Mutation_p.E317Q|KIAA0226_uc003fye.1_Missense_Mutation_p.E84Q|KIAA0226_uc003fyf.2_Missense_Mutation_p.E210Q|KIAA0226_uc003fyg.2_Missense_Mutation_p.E370Q NM_014687 NP_055502 Q92622 RUBIC_HUMAN hypothetical protein LOC9711 isoform 2. 377 Ser-rich. autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis early endosome|late endosome|lysosome protein binding 0 all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976) 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;0.0446) AGCTGGCTCTCCCCACCTCCT 0.577 NA 35 76 0 0 0 0 KLB 152831 broad.mit.edu 37 4 39448239 39448239 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr4:39448239G>A uc003gua.2 + 4 1990 c.1893G>A c.(1891-1893)CTG>CTA p.L631L KLB_uc011byj.1_Silent_p.L622L NM_175737 NP_783864 Q86Z14 KLOTB_HUMAN klotho beta 631 Extracellular (Potential).|Glycosyl hydrolase-1 2. carbohydrate metabolic process integral to membrane|plasma membrane cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds skin(1) 1 GTGAGGGGCTGAAGCTTGGCA 0.627 NA 27 54 0 0 0 0 NSUN7 79730 broad.mit.edu 37 4 40752778 40752778 + Missense_Mutation SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr4:40752778C>A uc003gvj.3 + 2 563 c.68C>A c.(67-69)ACT>AAT p.T23N NSUN7_uc003gvh.2_Missense_Mutation_p.T23N|NSUN7_uc003gvi.3_Missense_Mutation_p.T23N NM_024677 NP_078953 NOL1/NOP2/Sun domain family, member 7 0 TCCCAACTCACTTCCCTGCCT 0.547 NA 29 70 2.66e-16 2.89e-16 1 0 NSUN7 79730 broad.mit.edu 37 4 40752873 40752873 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr4:40752873C>G uc003gvj.3 + 2 658 c.163C>G c.(163-165)CAG>GAG p.Q55E NSUN7_uc003gvh.2_Missense_Mutation_p.Q55E|NSUN7_uc003gvi.3_Missense_Mutation_p.Q55E NM_024677 NP_078953 NOL1/NOP2/Sun domain family, member 7 0 CAACATTTTTCAGGGTATTCG 0.512 NA 40 94 0 0 0 0 LRRC66 339977 broad.mit.edu 37 4 52861814 52861814 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr4:52861814G>C uc003gzi.2 - 4 1387 c.1374C>G c.(1372-1374)TTC>TTG p.F458L NM_001024611 NP_001019782 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 458 integral to membrane ovary(1)|central_nervous_system(1)|skin(1) 3 GTGTCACCCAGAAAGGGGTCT 0.562 NA 26 72 0 0 0 0 ODAM 54959 broad.mit.edu 37 4 71068032 71068032 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr4:71068032G>A uc003hfc.2 + 8 651 c.634G>A c.(634-636)GAA>AAA p.E212K NM_017855 NP_060325 A1E959 ODAM_HUMAN odontogenic ameloblast-associated protein 212 biomineral tissue development|odontogenesis of dentine-containing tooth fibril ovary(3)|large_intestine(1) 4 CACAGCTCCTGAAATTGCTGT 0.373 NA 12 34 0 0 0 0 ENAM 10117 broad.mit.edu 37 4 71508617 71508617 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr4:71508617G>A uc011caw.1 + 9 1755 c.1474G>A c.(1474-1476)GAA>AAA p.E492K NM_031889 NP_114095 Q9NRM1 ENAM_HUMAN enamelin precursor 492 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel ovary(3) 3 Lung(101;0.235) TGATCAACATGAAAACTCCTA 0.378 NA 7 30 0 0 0 0 RUFY3 22902 broad.mit.edu 37 4 71660553 71660554 + Missense_Mutation DNP GA GA AT TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr4:71660553_71660554GA>AT uc003hfr.2 + 14 2094_2095 c.1499_1500GA>AT c.(1498-1500)AGA>AAT p.R500N RUFY3_uc011cay.1_Missense_Mutation_p.R436N NM_001037442 NP_001032519 Q7L099 RUFY3_HUMAN RUN and FYVE domain containing 3 isoform 1 335 Potential. negative regulation of axonogenesis filopodium|growth cone 0 all_hematologic(202;0.248) Lung(101;0.235) AAAGAAAGAAGATTACAAAACG 0.371 NA 6 90 0 0 0 0 ADAMTS3 9508 broad.mit.edu 37 4 73280574 73280574 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr4:73280574C>G uc003hgk.1 - 4 656 c.619G>C c.(619-621)GAA>CAA p.E207Q NM_014243 NP_055058 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 207 collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding ovary(1)|lung(1) 2 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) GGAGCCTGTTCTACAGCTGAT 0.363 NA 21 52 0 0 0 0 ANKRD17 26057 broad.mit.edu 37 4 73957704 73957704 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr4:73957704G>A uc003hgp.2 - 29 5758 c.5641C>T c.(5641-5643)CTT>TTT p.L1881F ANKRD17_uc003hgo.2_Missense_Mutation_p.L1768F|ANKRD17_uc003hgq.2_Missense_Mutation_p.L1630F|ANKRD17_uc003hgr.2_Missense_Mutation_p.L1880F NM_032217 NP_115593 O75179 ANR17_HUMAN ankyrin repeat domain protein 17 isoform a 1881 interspecies interaction between organisms cytoplasm|nucleus RNA binding ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1) 10 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) GCTAATGGAAGAGAAACTGGA 0.483 NA 21 116 0 0 0 0 AFM 173 broad.mit.edu 37 4 74361120 74361120 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr4:74361120G>A uc003hhb.2 + 9 1193 c.1162G>A c.(1162-1164)GAA>AAA p.E388K NM_001133 NP_001124 P43652 AFAM_HUMAN afamin precursor 388 Albumin 2. vitamin transport vitamin E binding ovary(2)|central_nervous_system(1) 3 Breast(15;0.00102) Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) CTGCAACACAGAAAACCCTCC 0.363 NA 15 44 0 0 0 0 CCNG2 901 broad.mit.edu 37 4 78079754 78079754 + Silent SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr4:78079754C>G uc003hkq.3 + 2 372 c.69C>G c.(67-69)GTC>GTG p.V23V CCNG2_uc003hkn.3_Silent_p.V23V|CCNG2_uc011ccc.1_Silent_p.V23V|CCNG2_uc003hkp.3_Silent_p.V23V NM_004354 NP_004345 Q16589 CCNG2_HUMAN cyclin G2 23 cell cycle checkpoint|cell division|mitosis cytoplasm ovary(2)|lung(1) 3 TGTTGAACGTCTACCTGGAAC 0.478 NA 28 87 0 0 0 0 FRAS1 80144 broad.mit.edu 37 4 79455676 79455676 + Nonsense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr4:79455676C>T uc003hlb.2 + 71 11439 c.10999C>T c.(10999-11001)CAG>TAG p.Q3667* NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 3662 Extracellular (Potential). cell communication integral to membrane|plasma membrane metal ion binding large_intestine(5) 5 CACTGAATTTCAGCTCTGCAA 0.418 NA 28 120 0 0 0 0 LIN54 132660 broad.mit.edu 37 4 83858440 83858440 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr4:83858440G>A uc003hnx.3 - 9 1922 c.1544C>T c.(1543-1545)TCA>TTA p.S515L LIN54_uc003hnz.3_Missense_Mutation_p.S294L|LIN54_uc003hny.3_Missense_Mutation_p.S114L|LIN54_uc010ijt.2_Missense_Mutation_p.S426L|LIN54_uc010iju.2_Missense_Mutation_p.S114L|LIN54_uc010ijv.2_Missense_Mutation_p.S294L NM_194282 NP_919258 Q6MZP7 LIN54_HUMAN lin-54 homolog isoform a 515 cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding 0 Hepatocellular(203;0.114) GGCCGACTCTGATGGGATTAT 0.289 NA 13 54 0 0 0 0 LIN54 132660 broad.mit.edu 37 4 83859644 83859644 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr4:83859644G>A uc003hnx.3 - 8 1832 c.1454C>T c.(1453-1455)TCA>TTA p.S485L LIN54_uc003hnz.3_Missense_Mutation_p.S264L|LIN54_uc003hny.3_Missense_Mutation_p.S84L|LIN54_uc010ijt.2_Missense_Mutation_p.S396L|LIN54_uc010iju.2_Missense_Mutation_p.S84L|LIN54_uc010ijv.2_Missense_Mutation_p.S264L NM_194282 NP_919258 Q6MZP7 LIN54_HUMAN lin-54 homolog isoform a 485 cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding 0 Hepatocellular(203;0.114) TGATACATATGAAGACTGCTG 0.353 NA 4 55 0 0 0 0 WDFY3 23001 broad.mit.edu 37 4 85672736 85672736 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr4:85672736G>C uc003hpd.2 - 36 6281 c.5873C>G c.(5872-5874)GCT>GGT p.A1958G NM_014991 NP_055806 Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 isoform 1958 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding ovary(2)|central_nervous_system(1) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) GAACTTTTTAGCCGGGTGATT 0.458 NA 38 91 0 0 0 0 PAPSS1 9061 broad.mit.edu 37 4 108578142 108578142 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr4:108578142C>T uc003hyk.2 - 7 889 c.805G>A c.(805-807)GTT>ATT p.V269I PAPSS1_uc011cfh.1_RNA NM_005443 NP_005434 O43252 PAPS1_HUMAN 3'-phosphoadenosine 5'-phosphosulfate synthase 269 Adenylyl-sulfate kinase. 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process cytosol adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity ovary(1) 1 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;5.49e-05) TCTGCCAAAACCTGCACCCAC 0.393 NA 11 74 0 0 0 0 TNIP3 79931 broad.mit.edu 37 4 122078303 122078303 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr4:122078303C>T uc010ing.2 - 4 505 c.309G>A c.(307-309)CAG>CAA p.Q103Q TNIP3_uc010inh.2_Silent_p.Q103Q|TNIP3_uc011cgj.1_Silent_p.Q161Q|TNIP3_uc010ini.2_Silent_p.Q103Q NM_024873 NP_079149 Q96KP6 TNIP3_HUMAN TNFAIP3 interacting protein 3 103 Potential. ovary(1) 1 CGTCCTCTCTCTGCCTGTCGT 0.642 NA 111 275 0 0 0 0 LRBA 987 broad.mit.edu 37 4 151773393 151773393 + Nonsense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr4:151773393G>A uc010ipj.2 - 23 3943 c.3469C>T c.(3469-3471)CAA>TAA p.Q1157* LRBA_uc003ilt.3_5'Flank|LRBA_uc003ilu.3_Nonsense_Mutation_p.Q1157* NM_006726 NP_006717 P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and 1157 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding ovary(3)|breast(3)|skin(1) 7 all_hematologic(180;0.151) TTTCCTTCTTGAAATATTAAT 0.383 NA 21 66 0 0 0 0 TIGD4 201798 broad.mit.edu 37 4 153692046 153692046 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr4:153692046C>G uc003imy.2 - 2 893 c.111G>C c.(109-111)AAG>AAC p.K37N NM_145720 NP_663772 Q8IY51 TIGD4_HUMAN tigger transposable element derived 4 37 HTH psq-type. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus chromatin binding|DNA binding ovary(1) 1 all_hematologic(180;0.093) CTGCTTTTTTCTTGCCACTTT 0.358 NA 29 55 0 0 0 0 DCHS2 54798 broad.mit.edu 37 4 155278412 155278412 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr4:155278412C>G uc003inw.2 - 6 759 c.759G>C c.(757-759)ATG>ATC p.M253I DCHS2_uc003inx.2_Intron NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 253 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|pancreas(1) 4 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) ctaaactgttcattacttcct 0 NA 30 102 0 0 0 0 GRIA2 2891 broad.mit.edu 37 4 158224904 158224904 + Missense_Mutation SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr4:158224904C>A uc003ipm.3 + 3 889 c.430C>A c.(430-432)CAA>AAA p.Q144K GRIA2_uc011cit.1_Missense_Mutation_p.Q97K|GRIA2_uc003ipl.3_Missense_Mutation_p.Q144K|GRIA2_uc003ipk.3_Missense_Mutation_p.Q97K|GRIA2_uc010iqh.1_RNA NM_001083619 NP_001077088 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 isoform 2 144 Extracellular (Potential). synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity central_nervous_system(3)|ovary(1) 4 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) TGAATACTATCAATGGGACAA 0.443 NA 33 106 1.08e-15 1.17e-15 1 0 FNIP2 57600 broad.mit.edu 37 4 159791564 159791564 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr4:159791564C>T uc003iqe.3 + 14 3075 c.2892C>T c.(2890-2892)ACC>ACT p.T964T NM_020840 NP_065891 Q9P278 FNIP2_HUMAN folliculin interacting protein 2 964 DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation cytoplasm protein binding 0 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.00936) TTCATGGGACCGGCAGTGATG 0.552 NA 16 31 0 0 0 0 C4orf45 152940 broad.mit.edu 37 4 159836377 159836377 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr4:159836377G>A uc003iqf.1 - 4 576 c.491C>T c.(490-492)TCA>TTA p.S164L C4orf45_uc010iqt.1_RNA NM_152543 NP_689756 Q96LM5 CD045_HUMAN hypothetical protein LOC152940 164 0 TCTTGGCAATGATGACTTACA 0.423 NA 12 24 0 0 0 0 NEK1 4750 broad.mit.edu 37 4 170523167 170523167 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr4:170523167G>A uc003isb.1 - 3 698 c.206C>T c.(205-207)TCA>TTA p.S69L NEK1_uc003isc.1_Missense_Mutation_p.S69L|NEK1_uc003isd.1_Missense_Mutation_p.S69L|NEK1_uc003ise.1_Missense_Mutation_p.S69L|NEK1_uc003isf.1_Missense_Mutation_p.S69L|NEK1_uc003isg.1_5'Flank NM_012224 NP_036356 Q96PY6 NEK1_HUMAN NIMA-related kinase 1 69 Protein kinase. cell division|cilium assembly|mitosis nucleus|pericentriolar material ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity lung(3)|ovary(2)|large_intestine(1) 6 Prostate(90;0.00601)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14) ACCTTCAAATGATTCTCTATA 0.328 NA 13 75 0 0 0 0 HMGB2 3148 broad.mit.edu 37 4 174254786 174254786 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr4:174254786G>A uc011ckc.1 - 1 135 c.15C>T c.(13-15)GAC>GAT p.D5D HMGB2_uc003ita.3_Silent_p.D5D|HMGB2_uc003itb.2_Silent_p.D5D|HMGB2_uc003itc.2_Silent_p.D5D NM_001130689 NP_001124161 P26583 HMGB2_HUMAN high-mobility group box 2 5 base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding 0 Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122) all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249) GCTTGTTGGGGTCTCCTTTAC 0.642 NA 4 64 0 0 0 0 AHRR 57491 broad.mit.edu 37 5 434023 434023 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr5:434023C>T uc003jav.2 + 12 1278 c.1234C>T c.(1234-1236)CGG>TGG p.R412W AHRR_uc003jaw.2_Missense_Mutation_p.R390W|AHRR_uc010isy.2_Missense_Mutation_p.R240W|AHRR_uc010isz.2_Missense_Mutation_p.R390W|AHRR_uc003jax.2_Missense_Mutation_p.R153W|AHRR_uc003jay.2_Missense_Mutation_p.R250W|AHRR_uc003jaz.2_Missense_Mutation_p.R11W NM_020731 NP_065782 A9YTQ3 AHRR_HUMAN arylhydrocarbon receptor repressor 394 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(2) 2 Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863) AGTGACAGGGCGGAGGGAGAC 0.632 NA 5 37 0 0 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5306808 5306808 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr5:5306808G>A uc003jdl.2 + 21 3516 c.3378G>A c.(3376-3378)TCG>TCA p.S1126S NM_139056 NP_620687 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 1126 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1) 8 CGGGACCCTCGAGGGGCAGCT 0.672 NA 4 34 0 0 0 0 CDH10 1008 broad.mit.edu 37 5 24511615 24511615 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr5:24511615G>C uc003jgr.1 - 6 1155 c.823C>G c.(823-825)CAT>GAT p.H275D CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 275 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) ACTCGAAGATGAATAGTGTCT 0.279 NA HNSCC(23;0.051) 7 28 0 0 0 0 SLC1A3 6507 broad.mit.edu 37 5 36686317 36686317 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr5:36686317G>A uc003jkj.3 + 10 2051 c.1575G>A c.(1573-1575)CTG>CTA p.L525L SLC1A3_uc011cox.1_Silent_p.L418L|SLC1A3_uc010iuy.2_Silent_p.L480L NM_004172 NP_004163 P43003 EAA1_HUMAN solute carrier family 1 (glial high affinity 525 D-aspartate import|L-glutamate import|neurotransmitter uptake integral to membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity 0 all_lung(31;0.000245) Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) L-Glutamic Acid(DB00142) CATATCAACTGATTGCACAGG 0.393 NA 27 185 0 0 0 0 NUP155 9631 broad.mit.edu 37 5 37307413 37307413 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr5:37307413C>G uc003jku.1 - 25 3007 c.2889G>C c.(2887-2889)CAG>CAC p.Q963H NUP155_uc003jkt.1_Missense_Mutation_p.Q904H|NUP155_uc010iuz.1_Missense_Mutation_p.Q899H NM_153485 NP_705618 O75694 NU155_HUMAN nucleoporin 155kDa isoform 1 963 carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore protein binding|structural constituent of nuclear pore|transporter activity ovary(1) 1 all_lung(31;0.000137) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CTTGGAAGGCCTGAAGTCCAA 0.348 NA 12 65 0 0 0 0 LIFR 3977 broad.mit.edu 37 5 38481936 38481936 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr5:38481936C>G uc010ive.1 - 20 3387 c.3055G>C c.(3055-3057)GAA>CAA p.E1019Q LIFR_uc003jli.2_Missense_Mutation_p.E1019Q NM_001127671 NP_001121143 P42702 LIFR_HUMAN leukemia inhibitory factor receptor precursor 1019 Cytoplasmic (Potential). positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity ovary(3)|large_intestine(1) 4 all_lung(31;0.00021) AAGTCCTCTTCTGCAGCTATA 0.443 NA T PLAG1 salivary adenoma 20 99 0 0 0 0 HEATR7B2 133558 broad.mit.edu 37 5 41057214 41057214 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr5:41057214G>C uc003jmj.3 - 9 1406 c.916C>G c.(916-918)CTA>GTA p.L306V HEATR7B2_uc003jmi.3_Intron NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 306 HEAT 3. binding ovary(6)|central_nervous_system(2) 8 GTCCTACCTAGAATGAGAAAA 0.413 NA 10 44 0 0 0 0 PARP8 79668 broad.mit.edu 37 5 50118221 50118221 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr5:50118221G>A uc003jon.3 + 18 2029 c.1847G>A c.(1846-1848)AGA>AAA p.R616K PARP8_uc011cpz.1_Missense_Mutation_p.R508K|PARP8_uc003joo.2_Missense_Mutation_p.R616K|PARP8_uc003jop.2_Missense_Mutation_p.R574K NM_024615 NP_078891 Q8N3A8 PARP8_HUMAN poly (ADP-ribose) polymerase family, member 8 616 intracellular NAD+ ADP-ribosyltransferase activity lung(3)|large_intestine(1)|ovary(1) 5 Lung NSC(810;0.0305)|Breast(144;0.222) ACTTCTATCAGAGAAATGACA 0.308 NA 18 96 0 0 0 0 ADAMTS6 11174 broad.mit.edu 37 5 64558671 64558671 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr5:64558671G>A uc003jtp.2 - 13 2553 c.1739C>T c.(1738-1740)TCA>TTA p.S580L ADAMTS6_uc003jto.2_RNA|ADAMTS6_uc003jtq.2_RNA|ADAMTS6_uc003jtr.1_Missense_Mutation_p.S201L NM_197941 NP_922932 Q9UKP5 ATS6_HUMAN ADAM metallopeptidase with thrombospondin type 1 580 TSP type-1 1. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding 0 Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235) Lung(70;0.00942) TCTTAGGGATGAGGAGACGCC 0.537 NA 7 12 0 0 0 0 BDP1 55814 broad.mit.edu 37 5 70786860 70786860 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr5:70786860G>A uc003kbp.1 + 11 1805 c.1542G>A c.(1540-1542)AAG>AAA p.K514K BDP1_uc003kbn.1_Silent_p.K514K|BDP1_uc003kbo.2_Silent_p.K514K NM_018429 NP_060899 A6H8Y1 BDP1_HUMAN transcription factor-like nuclear regulator 514 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding skin(2) 2 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) AATGCAGTAAGGAGCAGATGC 0.383 NA 7 34 0 0 0 0 MAP1B 4131 broad.mit.edu 37 5 71494026 71494026 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr5:71494026G>C uc003kbw.3 + 5 5085 c.4844G>C c.(4843-4845)AGA>ACA p.R1615T MAP1B_uc010iyw.1_Missense_Mutation_p.R1632T|MAP1B_uc010iyx.1_Missense_Mutation_p.R1489T|MAP1B_uc010iyy.1_Missense_Mutation_p.R1489T NM_005909 NP_005900 P46821 MAP1B_HUMAN microtubule-associated protein 1B 1615 microtubule|microtubule associated complex structural molecule activity large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1) 5 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) GAATGCCCAAGACCGATGTCA 0.438 NA 9 107 0 0 0 0 CMYA5 202333 broad.mit.edu 37 5 79029812 79029812 + Nonsense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr5:79029812C>T uc003kgc.2 + 2 5296 c.5224C>T c.(5224-5226)CAG>TAG p.Q1742* NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 1742 perinuclear region of cytoplasm ovary(6)|pancreas(2)|lung(1) 9 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) AGAAGAATTTCAGCCATTTAC 0.423 NA 11 45 0 0 0 0 GPR98 84059 broad.mit.edu 37 5 90074289 90074289 + Nonsense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr5:90074289C>T uc003kju.2 + 63 12808 c.12712C>T c.(12712-12714)CAG>TAG p.Q4238* GPR98_uc003kjt.2_Nonsense_Mutation_p.Q1944*|GPR98_uc003kjw.2_5'Flank NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 4238 Extracellular (Potential).|Calx-beta 28. cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) CTATGAGTTTCAGCTCACTGC 0.468 NA 7 20 0 0 0 0 ARRDC3 57561 broad.mit.edu 37 5 90670857 90670857 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr5:90670857C>T uc003kjz.2 - 5 992 c.752G>A c.(751-753)CGT>CAT p.R251H NM_020801 NP_065852 Q96B67 ARRD3_HUMAN arrestin domain containing 3 251 signal transduction cytoplasm protein binding ovary(1)|breast(1) 2 all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207) OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22) GGATTCCCCACGCAAGTTAGC 0.468 NA 13 66 0 0 0 0 YTHDC2 64848 broad.mit.edu 37 5 112851047 112851047 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr5:112851047C>T uc003kqn.2 + 2 449 c.266C>T c.(265-267)TCT>TTT p.S89F YTHDC2_uc010jce.1_Missense_Mutation_p.S89F|YTHDC2_uc010jcf.1_5'UTR NM_022828 NP_073739 Q9H6S0 YTDC2_HUMAN YTH domain containing 2 89 R3H. ATP binding|ATP-dependent helicase activity|nucleic acid binding skin(2)|central_nervous_system(1) 3 all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594) GGTTTGGTCTCTAAAAGTAAA 0.333 NA 15 63 0 0 0 0 YTHDC2 64848 broad.mit.edu 37 5 112871369 112871369 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr5:112871369G>A uc003kqn.2 + 7 1159 c.976G>A c.(976-978)GAT>AAT p.D326N YTHDC2_uc010jce.1_Missense_Mutation_p.D326N|YTHDC2_uc010jcf.1_Missense_Mutation_p.D26N NM_022828 NP_073739 Q9H6S0 YTDC2_HUMAN YTH domain containing 2 326 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|nucleic acid binding skin(2)|central_nervous_system(1) 3 all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594) TCGATTTAGTGATTTTTTACT 0.303 NA 13 48 0 0 0 0 YTHDC2 64848 broad.mit.edu 37 5 112889016 112889016 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr5:112889016C>T uc003kqn.2 + 13 2010 c.1827C>T c.(1825-1827)ATC>ATT p.I609I YTHDC2_uc010jce.1_Silent_p.I609I|YTHDC2_uc010jcf.1_Silent_p.I309I NM_022828 NP_073739 Q9H6S0 YTDC2_HUMAN YTH domain containing 2 609 ATP binding|ATP-dependent helicase activity|nucleic acid binding skin(2)|central_nervous_system(1) 3 all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594) TGGATTTGATCATGCATCTTC 0.343 NA 9 21 0 0 0 0 ZNF474 133923 broad.mit.edu 37 5 121488078 121488078 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr5:121488078G>C uc003ksv.2 + 2 769 c.393G>C c.(391-393)TTG>TTC p.L131F NM_207317 NP_997200 Q6S9Z5 ZN474_HUMAN zinc finger protein 474 131 intracellular zinc ion binding 0 all_cancers(142;0.229)|Prostate(80;0.0387) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415) CCAAGCATTTGAGGAGGCCAG 0.517 NA 31 78 0 0 0 0 ZNF608 57507 broad.mit.edu 37 5 123984351 123984351 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr5:123984351G>A uc003ktq.1 - 4 1849 c.1726C>T c.(1726-1728)CAT>TAT p.H576Y ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Missense_Mutation_p.H576Y|ZNF608_uc003ktt.1_Missense_Mutation_p.H576Y NM_020747 NP_065798 Q9ULD9 ZN608_HUMAN zinc finger protein 608 576 C2H2-type. intracellular zinc ion binding skin(3)|ovary(2)|lung(1) 6 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) AAGTGTGCATGAGCCTGGTGG 0.493 NA 28 89 0 0 0 0 FBN2 2201 broad.mit.edu 37 5 127599217 127599217 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr5:127599217C>G uc003kuu.2 - 63 8531 c.8092G>C c.(8092-8094)GAG>CAG p.E2698Q NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 2698 EGF-like 47; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) GACGAGCACTCATTCACGTCG 0.602 NA 43 127 0 0 0 0 SLC22A4 6583 broad.mit.edu 37 5 131671648 131671648 + Missense_Mutation SNP G G T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr5:131671648G>T uc003kwq.2 + 8 1564 c.1399G>T c.(1399-1401)GCC>TCC p.A467S uc003kwr.3_Intron NM_003059 NP_003050 Q9H015 S22A4_HUMAN solute carrier family 22 member 4 467 Helical; Name=11; (Potential). body fluid secretion|sodium ion transport apical plasma membrane|integral to plasma membrane|mitochondrion ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity 0 all_cancers(142;0.0752)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Carnitine(DB00583) CACATCCACGGCCTCCAGAGT 0.483 NA 15 134 2e-07 2.12e-07 1 0 IRF1 3659 broad.mit.edu 37 5 131825145 131825145 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr5:131825145C>T uc003kxa.2 - 2 260 c.26G>A c.(25-27)AGA>AAA p.R9K IRF1_uc003kxd.2_Intron|IRF1_uc003kxb.2_Missense_Mutation_p.R9K|IRF1_uc010jdt.1_Missense_Mutation_p.R9K NM_002198 NP_002189 P10914 IRF1_HUMAN interferon regulatory factor 1 9 IRF tryptophan pentad repeat. blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway nucleoplasm 0 all_cancers(142;0.026)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) LUAD - Lung adenocarcinoma(142;0.247) TAGCCAGGGTCTCATGCGCAT 0.493 NA 18 54 0 0 0 0 SPOCK1 6695 broad.mit.edu 37 5 136315065 136315065 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr5:136315065C>T uc003lbo.2 - 9 1276 c.1085G>A c.(1084-1086)GGG>GAG p.G362E SPOCK1_uc003lbp.2_Missense_Mutation_p.G362E NM_004598 NP_004589 Q08629 TICN1_HUMAN sparc/osteonectin, cwcv and kazal-like domains 362 Thyroglobulin type-1. cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction proteinaceous extracellular matrix calcium ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CAACTCATTCCCATATTTGTC 0.587 NA 4 104 0 0 0 0 KLHL3 26249 broad.mit.edu 37 5 137045500 137045500 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr5:137045500C>T uc010jek.2 - 3 624 c.180G>A c.(178-180)GAG>GAA p.E60E MYOT_uc011cye.1_Intron|KLHL3_uc010jem.1_Silent_p.E20E NM_017415 NP_059111 Q9UH77 KLHL3_HUMAN kelch-like 3 60 BTB. cytoplasm|cytoskeleton actin binding|structural molecule activity 0 all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GBM - Glioblastoma multiforme(465;0.0223) GGGCTTCTATCTCGACATCTT 0.537 NA 26 100 0 0 0 0 SLC4A9 83697 broad.mit.edu 37 5 139745591 139745591 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr5:139745591G>A uc003lfm.2 + 13 1990 c.1955G>A c.(1954-1956)CGC>CAC p.R652H SLC4A9_uc003lfj.2_Missense_Mutation_p.R628H|SLC4A9_uc011czg.1_Intron|SLC4A9_uc003lfl.2_Missense_Mutation_p.R628H|SLC4A9_uc003lfk.2_Missense_Mutation_p.R614H NM_031467 NP_113655 Q96Q91 B3A4_HUMAN solute carrier family 4, sodium bicarbonate 652 Membrane (anion exchange). integral to membrane|plasma membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity large_intestine(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAGACCAGCCGCTTCTTCCCC 0.493 NA 73 198 0 0 0 0 PCDHB2 56133 broad.mit.edu 37 5 140475302 140475302 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr5:140475302G>C uc003lil.2 + 1 1066 c.928G>C c.(928-930)GAT>CAT p.D310H PCDHB2_uc003lim.1_5'UTR NM_018936 NP_061759 Q9Y5E7 PCDB2_HUMAN protocadherin beta 2 precursor 310 Extracellular (Potential).|Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding ovary(3)|upper_aerodigestive_tract(2)|pancreas(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACAGAAACTGGATTTCGAATC 0.408 NA 16 49 0 0 0 0 PCDHB6 56130 broad.mit.edu 37 5 140530308 140530308 + Missense_Mutation SNP A A T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr5:140530308A>T uc003lir.2 + 1 470 c.470A>T c.(469-471)CAC>CTC p.H157L PCDHB6_uc011dah.1_Missense_Mutation_p.H21L NM_018939 NP_061762 Q9Y5E3 PCDB6_HUMAN protocadherin beta 6 precursor 157 Cadherin 2.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AAAATGGCACACGATTTAGAC 0.483 NA 43 156 0 0 0 0 PCDHB15 56121 broad.mit.edu 37 5 140625408 140625408 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr5:140625408G>A uc003lje.2 + 1 262 c.262G>A c.(262-264)GAG>AAG p.E88K NM_018935 NP_061758 Q9Y5E8 PCDBF_HUMAN protocadherin beta 15 precursor 88 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(2)|breast(2)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GATATTAAATGAGAAGCTGGA 0.512 NA 5 68 0 0 0 0 GNPDA1 10007 broad.mit.edu 37 5 141385711 141385711 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr5:141385711C>G uc003lmf.3 - 3 1166 c.407G>C c.(406-408)GGA>GCA p.G136A GNPDA1_uc003lmg.3_Missense_Mutation_p.G136A|GNPDA1_uc010jgh.2_Missense_Mutation_p.G136A|GNPDA1_uc003lmh.3_Missense_Mutation_p.G102A NM_005471 NP_005462 P46926 GNPI1_HUMAN glucosamine-6-phosphate deaminase 1 136 generation of precursor metabolites and energy|glucosamine catabolic process|N-acetylglucosamine metabolic process|single fertilization cytoplasm glucosamine-6-phosphate deaminase activity|hydrolase activity 0 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAGCTCACCTCCAACAAATAG 0.532 NA 25 76 0 0 0 0 RBM27 54439 broad.mit.edu 37 5 145651095 145651095 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr5:145651095C>G uc003lnz.3 + 19 3012 c.2846C>G c.(2845-2847)TCT>TGT p.S949C NM_018989 NP_061862 Q9P2N5 RBM27_HUMAN RNA binding motif protein 27 949 mRNA processing cytoplasm|nuclear speck nucleotide binding|RNA binding|zinc ion binding central_nervous_system(2)|pancreas(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ACCATGTCCTCTCAAGGTCGA 0.478 NA 8 30 0 0 0 0 SLC6A7 6534 broad.mit.edu 37 5 149576346 149576346 + Silent SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr5:149576346C>G uc003lrr.2 + 3 656 c.285C>G c.(283-285)CTC>CTG p.L95L NM_014228 NP_055043 Q99884 SC6A7_HUMAN solute carrier family 6, member 7 95 integral to plasma membrane|membrane fraction neurotransmitter:sodium symporter activity|proline:sodium symporter activity 0 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) L-Proline(DB00172) TCCTGGAGCTCTCCCTGGGCC 0.642 NA 39 115 0 0 0 0 GALNT10 55568 broad.mit.edu 37 5 153760021 153760021 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr5:153760021G>A uc003lvh.2 + 6 900 c.768G>A c.(766-768)CGG>CGA p.R256R GALNT10_uc003lvg.1_Silent_p.R256R|GALNT10_uc010jic.2_RNA|GALNT10_uc010jid.2_Silent_p.R97R NM_198321 NP_938080 Q86SR1 GLT10_HUMAN GalNAc transferase 10 isoform a 256 Lumenal (Potential). Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding skin(2) 2 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21) Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577) GCATTGCTCGGAACCGCAAGA 0.512 NA 43 126 0 0 0 0 RNF145 153830 broad.mit.edu 37 5 158585719 158585719 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr5:158585719G>A uc003lxp.2 - 11 2264 c.1951C>T c.(1951-1953)CAC>TAC p.H651Y RNF145_uc011ddy.1_Missense_Mutation_p.H665Y|RNF145_uc003lxo.1_Missense_Mutation_p.H679Y|RNF145_uc011ddz.1_Missense_Mutation_p.H668Y|RNF145_uc010jiq.1_Missense_Mutation_p.H681Y NM_144726 NP_653327 Q96MT1 RN145_HUMAN ring finger protein 145 651 integral to membrane zinc ion binding ovary(3)|lung(1)|skin(1) 5 Renal(175;0.00196) Medulloblastoma(196;0.0523) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TTCGCACTGTGAGGATATTCT 0.473 NA 34 159 0 0 0 0 RARS 5917 broad.mit.edu 37 5 167922356 167922356 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr5:167922356G>C uc003lzx.2 + 6 657 c.616G>C c.(616-618)GAG>CAG p.E206Q RARS_uc011deo.1_5'UTR NM_002887 NP_002878 P54136 SYRC_HUMAN arginyl-tRNA synthetase 206 HIGH region. arginyl-tRNA aminoacylation cytosol|nucleus|soluble fraction arginine-tRNA ligase activity|ATP binding|protein binding ovary(2)|skin(1) 3 Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0208)|all_neural(177;0.0227) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156) TATAGCTAAAGAGATGCATGT 0.428 NA 3 161 0 0 0 0 NSD1 64324 broad.mit.edu 37 5 176562391 176562391 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr5:176562391C>G uc003mfr.3 + 2 425 c.287C>G c.(286-288)TCC>TGC p.S96C NSD1_uc003mft.3_Intron|NSD1_uc003mfs.1_Missense_Mutation_p.S96C|NSD1_uc011dfx.1_Intron|NSD1_uc003mfp.2_Missense_Mutation_p.S96C|NSD1_uc003mfq.2_Missense_Mutation_p.S96C NM_022455 NP_071900 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 96 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding ovary(2)|kidney(1) 3 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) GGATCAGAATCCTTTCAAGAC 0.438 NA T NUP98 AML Sotos Syndrome Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome HNSCC(47;0.14) 12 47 0 0 0 0 ZFP2 80108 broad.mit.edu 37 5 178358777 178358777 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr5:178358777G>C uc003mjn.1 + 5 972 c.463G>C c.(463-465)GAG>CAG p.E155Q ZFP2_uc010jky.2_Missense_Mutation_p.E155Q|ZFP2_uc010jkx.1_Missense_Mutation_p.E155Q NM_030613 NP_085116 Q6ZN57 ZFP2_HUMAN zinc finger protein 2 homolog 155 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111) TCATACTGGAGAGAAACCCTA 0.413 NA 17 52 0 0 0 0 ZNF354C 30832 broad.mit.edu 37 5 178507032 178507032 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr5:178507032C>T uc003mju.2 + 5 1714 c.1599C>T c.(1597-1599)TTC>TTT p.F533F NM_014594 NP_055409 Q86Y25 Z354C_HUMAN zinc finger protein 354C 533 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309) all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.247) GGAAACCTTTCATCTGCAGCT 0.383 NA 19 84 0 0 0 0 RIPK1 8737 broad.mit.edu 37 6 3081283 3081283 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr6:3081283G>C uc010jni.2 + 4 624 c.392G>C c.(391-393)GGA>GCA p.G131A RIPK1_uc003muv.3_5'UTR|RIPK1_uc003muw.3_Missense_Mutation_p.G66A|RIPK1_uc011dhs.1_Intron|RIPK1_uc003mux.2_Missense_Mutation_p.G131A NM_003804 NP_003795 Q13546 RIPK1_HUMAN receptor (TNFRSF)-interacting serine-threonine 131 Protein kinase. activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity large_intestine(3)|lung(1)|skin(1) 5 Ovarian(93;0.0386) all_hematologic(90;0.0895) TACTTACATGGAAAAGGCGTG 0.368 NA 13 42 0 0 0 0 HIVEP1 3096 broad.mit.edu 37 6 12122774 12122774 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr6:12122774G>A uc003nac.2 + 4 2925 c.2746G>A c.(2746-2748)GGA>AGA p.G916R HIVEP1_uc011diq.1_RNA NM_002114 NP_002105 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer 916 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding p.G916R(1) ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) TCTTGGTACTGGACAGTCCCT 0.517 NA 12 47 0 0 0 0 MYLIP 29116 broad.mit.edu 37 6 16141928 16141928 + Silent SNP G G T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr6:16141928G>T uc003nbq.2 + 3 588 c.351G>T c.(349-351)GTG>GTT p.V117V MYLIP_uc003nbr.2_5'UTR NM_013262 NP_037394 Q8WY64 MYLIP_HUMAN myosin regulatory light chain interacting 117 FERM. cellular component movement|nervous system development cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding pancreas(1) 1 Breast(50;0.0799)|Ovarian(93;0.103) all_hematologic(90;0.0895) Epithelial(50;0.241) AGCAGGCAGTGGAACTCAGTG 0.527 NA 9 70 3.1e-07 3.29e-07 1 0 PGBD1 84547 broad.mit.edu 37 6 28251866 28251866 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr6:28251866C>G uc003nky.2 + 2 646 c.276C>G c.(274-276)TTC>TTG p.F92L PGBD1_uc003nkz.2_Missense_Mutation_p.F92L NM_032507 NP_115896 Q96JS3 PGBD1_HUMAN piggyBac transposable element derived 1 92 SCAN box. viral reproduction membrane|nucleus scavenger receptor activity|sequence-specific DNA binding transcription factor activity ovary(4) 4 TGGAGCAGTTCCTGACCATCC 0.537 NA 26 74 0 0 0 0 TRIM39 56658 broad.mit.edu 37 6 30297129 30297129 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr6:30297129C>T uc010jrz.2 + 3 347 c.35C>T c.(34-36)TCT>TTT p.S12F HCG18_uc003npw.2_5'Flank|HCG18_uc003npx.2_5'Flank|HCG18_uc003npy.2_5'Flank|TRIM39_uc003npz.2_Missense_Mutation_p.S12F|TRIM39_uc003nqb.2_Missense_Mutation_p.S12F|TRIM39_uc003nqc.2_Missense_Mutation_p.S12F|TRIM39_uc010jsa.1_Missense_Mutation_p.S12F NM_021253 NP_067076 Q9HCM9 TRI39_HUMAN tripartite motif-containing 39 isoform 1 12 apoptosis cytosol|mitochondrion identical protein binding|zinc ion binding ovary(3) 3 GCTGGGGCCTCTGCAGCCTCT 0.473 NA 50 149 0 0 0 0 KIAA1949 170954 broad.mit.edu 37 6 30647097 30647097 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr6:30647097C>G uc003nra.2 - 3 1912 c.1681G>C c.(1681-1683)GAG>CAG p.E561Q KIAA1949_uc003nrb.3_Missense_Mutation_p.E561Q NM_001134870 NP_001128342 Q6NYC8 PHTNS_HUMAN phostensin 561 cytoplasm|cytoskeleton actin binding 0 CCCAGCTCCTCCAGTACCGAA 0.627 NA 24 46 0 0 0 0 FKBPL 63943 broad.mit.edu 37 6 32097143 32097143 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr6:32097143C>T uc003nzr.2 - 2 685 c.415G>A c.(415-417)GAG>AAG p.E139K ATF6B_uc003nzo.2_5'Flank|ATF6B_uc003nzn.2_5'Flank|ATF6B_uc011dpg.1_5'Flank|ATF6B_uc011dph.1_5'Flank NM_022110 NP_071393 Q9UIM3 FKBPL_HUMAN WAF-1/CIP1 stabilizing protein 39 139 response to radiation membrane|nucleus FK506 binding|peptidyl-prolyl cis-trans isomerase activity 0 GTCCAGCCCTCTGGCGGCCCT 0.562 NA 85 228 0 0 0 0 FKBPL 63943 broad.mit.edu 37 6 32097257 32097257 + Missense_Mutation SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr6:32097257C>A uc003nzr.2 - 2 571 c.301G>T c.(301-303)GAT>TAT p.D101Y ATF6B_uc003nzo.2_5'Flank|ATF6B_uc003nzn.2_5'Flank|ATF6B_uc011dpg.1_5'Flank|ATF6B_uc011dph.1_5'Flank NM_022110 NP_071393 Q9UIM3 FKBPL_HUMAN WAF-1/CIP1 stabilizing protein 39 101 response to radiation membrane|nucleus FK506 binding|peptidyl-prolyl cis-trans isomerase activity 0 AAGCTCCCATCGGGGCAGTAC 0.517 NA 21 84 1.02e-10 1.09e-10 1 0 PRRT1 80863 broad.mit.edu 37 6 32118683 32118683 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr6:32118683C>T uc003nzt.2 - 2 136 c.20G>A c.(19-21)GGA>GAA p.G7E PRRT1_uc003nzs.2_Missense_Mutation_p.G48E|PRRT1_uc003nzu.2_Intron|PPT2_uc003nzw.2_5'Flank|PPT2_uc003nzx.2_5'Flank|PPT2_uc011dpi.1_5'Flank|PPT2_uc003nzy.1_5'Flank NM_030651 NP_085154 Q99946 PRRT1_HUMAN NG5 protein 7 response to biotic stimulus integral to membrane breast(1) 1 GTCTGGGAGTCCTGGGGGAGG 0.607 NA 5 11 0 0 0 0 ITPR3 3710 broad.mit.edu 37 6 33656530 33656530 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr6:33656530C>G uc011drk.1 + 49 6885 c.6666C>G c.(6664-6666)TTC>TTG p.F2222L ITPR3_uc003oey.2_Missense_Mutation_p.F309L NM_002224 NP_002215 Q14573 ITPR3_HUMAN inositol 1,4,5-triphosphate receptor, type 3 2222 Helical; (Potential). activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1) 19 TTGCCTTCTTCTACCCTTACA 0.612 NA 18 68 0 0 0 0 ZNF76 7629 broad.mit.edu 37 6 35260660 35260660 + Missense_Mutation SNP G G T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr6:35260660G>T uc003oki.1 + 11 1373 c.1168G>T c.(1168-1170)GCC>TCC p.A390S ZNF76_uc003okj.1_Missense_Mutation_p.A390S NM_003427 NP_003418 P36508 ZNF76_HUMAN zinc finger protein 76 (expressed in testis) 390 regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TCTCCCAGCCGCCTCTGCAGC 0.617 NA 9 88 2.74e-10 2.94e-10 1 0 C6orf222 389384 broad.mit.edu 37 6 36285134 36285134 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr6:36285134C>T uc003oly.2 - 12 2136 c.1958G>A c.(1957-1959)TGA>TAA p.*653* NM_001010903 NP_001010903 P0C671 CF222_HUMAN hypothetical protein LOC389384 653 skin(2)|ovary(1)|breast(1) 4 ACACAGCTTTCAATCTGGACT 0.443 NA 19 37 0 0 0 0 GSTA3 2940 broad.mit.edu 37 6 52767169 52767169 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr6:52767169C>T uc003pbb.2 - 4 326 c.247G>A c.(247-249)GGG>AGG p.G83R GSTA3_uc010jzq.2_Missense_Mutation_p.G27R NM_000847 NP_000838 Q16772 GSTA3_HUMAN glutathione S-transferase alpha 3 83 GST N-terminal. glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity 0 Lung NSC(77;0.0912) Glutathione(DB00143) ATGTCTTTCCCGTAGAGGTTG 0.448 NA 50 147 0 0 0 0 SNAP91 9892 broad.mit.edu 37 6 84311158 84311158 + Splice_Site SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr6:84311158C>G uc011dze.1 - 15 1474 c.1157_splice c.e15-1 p.D386_splice SNAP91_uc011dzd.1_Splice_Site|SNAP91_uc003pkb.2_Splice_Site_p.D349_splice|SNAP91_uc003pkc.2_Splice_Site_p.D384_splice|SNAP91_uc003pkd.2_Intron|SNAP91_uc003pka.2_Splice_Site_p.D384_splice NM_014841 NP_055656 O60641 AP180_HUMAN synaptosomal-associated protein, 91kDa homolog clathrin coat assembly clathrin coat|coated pit|plasma membrane 1-phosphatidylinositol binding|clathrin binding ovary(1) 1 all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0967) GCCAAAGAATCTATATTTCAC 0.413 NA 5 40 0 0 0 0 CNR1 1268 broad.mit.edu 37 6 88854153 88854153 + Missense_Mutation SNP C C A rs140051374 TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr6:88854153C>A uc011dzq.1 - 2 4404 c.841G>T c.(841-843)GGG>TGG p.G281W CNR1_uc010kbz.2_Missense_Mutation_p.G281W|CNR1_uc011dzr.1_Missense_Mutation_p.G281W|CNR1_uc011dzs.1_Missense_Mutation_p.G281W|CNR1_uc003pmq.3_Missense_Mutation_p.G281W|CNR1_uc011dzt.1_Missense_Mutation_p.G281W|CNR1_uc010kca.2_Missense_Mutation_p.G248W NM_001160260 NP_001153732 P21554 CNR1_HUMAN cannabinoid receptor 1 isoform a 281 Helical; Name=5; (Potential). G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane cannabinoid receptor activity|protein binding skin(2) 2 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.15) Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155) CTGGTGACCCCGATCCAGAAC 0.532 NA 4 74 0.00909568 0.00929024 1 0 MDN1 23195 broad.mit.edu 37 6 90402813 90402813 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr6:90402813C>T uc003pnn.1 - 63 10052 c.9936G>A c.(9934-9936)AAG>AAA p.K3312K NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 3312 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) AGGCCTGTTTCTTCAACAGGT 0.512 NA 14 35 0 0 0 0 BACH2 60468 broad.mit.edu 37 6 90648025 90648025 + Missense_Mutation SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr6:90648025C>A uc011eab.1 - 8 2690 c.1881G>T c.(1879-1881)AGG>AGT p.R627S BACH2_uc003pnw.2_Missense_Mutation_p.R627S NM_021813 NP_068585 Q9BYV9 BACH2_HUMAN BTB and CNC homology 1, basic leucine zipper 627 nucleus protein dimerization activity|sequence-specific DNA binding ovary(3)|pancreas(1)|lung(1)|skin(1) 6 all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063) BRCA - Breast invasive adenocarcinoma(108;0.0799) GGAAATCGTTCCTTGGAAGAT 0.423 NA 18 43 3.52e-12 3.79e-12 1 0 ARMC2 84071 broad.mit.edu 37 6 109285456 109285456 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr6:109285456C>T uc003pss.3 + 16 2400 c.2226C>T c.(2224-2226)CTC>CTT p.L742L ARMC2_uc011eao.1_Silent_p.L577L NM_032131 NP_115507 Q8NEN0 ARMC2_HUMAN armadillo repeat containing 2 742 ARM 11. binding 0 all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11) Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434) GTGTTCTCCTCAATCTCACTG 0.473 NA 9 25 0 0 0 0 ZBTB24 9841 broad.mit.edu 37 6 109788881 109788881 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr6:109788881G>A uc003ptl.1 - 6 1513 c.1345C>T c.(1345-1347)CTT>TTT p.L449F MICAL1_uc011eaq.1_5'Flank|ZBTB24_uc011ear.1_RNA|ZBTB24_uc010kds.1_Missense_Mutation_p.L393F|ZBTB24_uc010kdt.1_RNA NM_014797 NP_055612 O43167 ZBT24_HUMAN zinc finger and BTB domain containing 24 isoform 449 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059) TGGGTCTGAAGAGAACTCTTT 0.338 NA 4 23 0 0 0 0 RSPH4A 345895 broad.mit.edu 37 6 116938309 116938309 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr6:116938309G>A uc003pxe.2 + 1 668 c.523G>A c.(523-525)GAG>AAG p.E175K RSPH4A_uc010kee.2_Missense_Mutation_p.E175K NM_001010892 NP_001010892 Q5TD94 RSH4A_HUMAN radial spoke head 4 homolog A isoform 1 175 cilium axoneme assembly|cilium movement cytoplasm|cytoskeleton|radial spoke 0 TAAACAGAAAGAGCTGAGATT 0.512 NA Kartagener_syndrome 33 116 0 0 0 0 HIVEP2 3097 broad.mit.edu 37 6 143091557 143091557 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr6:143091557C>T uc003qjd.2 - 5 5062 c.4319G>A c.(4318-4320)CGA>CAA p.R1440Q NM_006734 NP_006725 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer 1440 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(2)|central_nervous_system(1) 6 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) AGAAAGCATTCGCTTGCTACC 0.517 NA 23 57 0 0 0 0 IGF2R 3482 broad.mit.edu 37 6 160484469 160484469 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr6:160484469C>G uc003qta.2 + 27 3841 c.3693C>G c.(3691-3693)GAC>GAG p.D1231E NM_000876 NP_000867 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor precursor 1231 8.|Lumenal (Potential). receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity ovary(3) 3 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) AGGTGAAAGACCCAAGGCATG 0.493 NA 13 74 0 0 0 0 PLG 5340 broad.mit.edu 37 6 161134112 161134112 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr6:161134112G>C uc003qtm.3 + 5 565 c.502G>C c.(502-504)GAT>CAT p.D168H NM_000301 NP_000292 P00747 PLMN_HUMAN plasminogen 168 Kringle 1. extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity skin(3)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) CTATACTACTGATCCAGAAAA 0.478 NA 24 143 0 0 0 0 SDK1 221935 broad.mit.edu 37 7 4213926 4213926 + Missense_Mutation SNP G G T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr7:4213926G>T uc003smx.2 + 33 5012 c.4873G>T c.(4873-4875)GCC>TCC p.A1625S SDK1_uc010kso.2_Missense_Mutation_p.A901S|SDK1_uc003smy.2_Missense_Mutation_p.A112S NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN sidekick 1 precursor 1625 Fibronectin type-III 10. cell adhesion integral to membrane large_intestine(3)|ovary(2)|skin(1) 6 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) GGAGTATGAAGCCGGGTCAGG 0.552 NA 42 256 1.39e-30 1.52e-30 1 0 RSPH10B2 728194 broad.mit.edu 37 7 5967846 5967846 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr7:5967846C>T uc003sph.1 - 20 2684 c.2413G>A c.(2413-2415)GAT>AAT p.D805N RSPH10B2_uc003spg.1_Silent_p.K606K|RSPH10B2_uc010ktd.1_Missense_Mutation_p.D805N|RSPH10B2_uc011jwk.1_3'UTR NM_173565 NP_775836 B2RC85 R10B2_HUMAN radial spoke head 10 homolog B 805 Potential. ovary(1)|pancreas(1)|skin(1) 3 AGTTCGTCATCTTCCATCTTC 0.522 NA 46 253 0 0 0 0 DGKB 1607 broad.mit.edu 37 7 14613864 14613864 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr7:14613864G>A uc003ssz.2 - 19 1933 c.1746C>T c.(1744-1746)ATC>ATT p.I582I DGKB_uc011jxt.1_Silent_p.I563I|DGKB_uc003sta.2_Silent_p.I582I|DGKB_uc011jxu.1_Silent_p.I581I NM_004080 NP_004071 Q9Y6T7 DGKB_HUMAN diacylglycerol kinase, beta isoform 1 582 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding lung(5)|ovary(4)|breast(2)|skin(1) 12 Phosphatidylserine(DB00144) AATTATTGATGATACTGTAAG 0.358 NA 4 160 0 0 0 0 TWIST1 7291 broad.mit.edu 37 7 19156446 19156446 + Nonsense_Mutation SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr7:19156446C>A uc003sum.2 - 1 850 c.499G>T c.(499-501)GAG>TAG p.E167* NM_000474 NP_000465 Q15672 TWST1_HUMAN twist 167 Sufficient for transactivation activity (By similarity). aortic valve morphogenesis|cellular response to hypoxia|embryonic camera-type eye formation|embryonic cranial skeleton morphogenesis|eyelid development in camera-type eye|muscle organ development|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of histone phosphorylation|negative regulation of osteoblast differentiation|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of cell motility|positive regulation of epithelial to mesenchymal transition|positive regulation of fatty acid beta-oxidation|positive regulation of monocyte chemotactic protein-1 production|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of tumor necrosis factor production|regulation of bone mineralization nucleus bHLH transcription factor binding|E-box binding|sequence-specific DNA binding RNA polymerase II transcription factor activity 0 GAGTCCAGCTCGTCGCTCTGG 0.617 NA Saethre-Chotzen_syndrome 9 18 1.59e-06 1.68e-06 1 0 ABCB5 340273 broad.mit.edu 37 7 20739704 20739704 + Silent SNP G G T rs148327292 TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr7:20739704G>T uc003suw.3 + 10 1494 c.948G>T c.(946-948)GGG>GGT p.G316G ABCB5_uc010kuh.2_Silent_p.G761G NM_178559 NP_848654 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B, member 5 316 Extracellular (Potential).|ABC transmembrane type-1. regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1) 6 GCAGAGCAGGGGAAATTTTAA 0.284 NA 12 39 0.00244969 0.00251893 1 0 DNAH11 8701 broad.mit.edu 37 7 21621571 21621571 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr7:21621571G>C uc003svc.2 + 9 1673 c.1642G>C c.(1642-1644)GAC>CAC p.D548H NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 548 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 TCTGGAATTTGACAGAAGGCT 0.333 NA Kartagener_syndrome 3 92 0 0 0 0 DNAH11 8701 broad.mit.edu 37 7 21639530 21639530 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr7:21639530G>A uc003svc.2 + 15 2824 c.2793G>A c.(2791-2793)CTG>CTA p.L931L NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 931 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 ACTTCTTTCTGAAGAATACAG 0.403 NA Kartagener_syndrome 13 16 0 0 0 0 NT5C3 51251 broad.mit.edu 37 7 33060909 33060909 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr7:33060909C>G uc003tdk.2 - 5 507 c.430G>C c.(430-432)GAG>CAG p.E144Q AVL9_uc011kai.1_Intron|NT5C3_uc003tdi.2_Missense_Mutation_p.E105Q|NT5C3_uc003tdj.2_Missense_Mutation_p.E105Q NM_001002010 NP_001002010 Q9H0P0 5NT3_HUMAN 5'-nucleotidase, cytosolic III isoform 1 144 E -> Q (in Ref. 11; AA sequence). nucleotide metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process cytosol|endoplasmic reticulum 2'-phosphotransferase activity|5'-nucleotidase activity|magnesium ion binding|nucleotide binding ovary(1) 1 GBM - Glioblastoma multiforme(11;0.0894) GGGTACTTCTCTTCTACAGTA 0.313 NA 19 68 0 0 0 0 NPC1L1 29881 broad.mit.edu 37 7 44578910 44578910 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr7:44578910C>T uc003tlb.2 - 2 1142 c.1086G>A c.(1084-1086)CCG>CCA p.P362P NPC1L1_uc003tlc.2_Silent_p.P362P|NPC1L1_uc011kbw.1_Silent_p.P362P|NPC1L1_uc003tld.2_Silent_p.P362P NM_013389 NP_037521 Q9UHC9 NPCL1_HUMAN Niemann-Pick C1-like protein 1 isoform 1 362 Helical; Name=2; (Potential). cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding ovary(3)|central_nervous_system(1)|skin(1) 5 Ezetimibe(DB00973) AGGCCACCACCGGGATGACAG 0.622 NA 34 101 0 0 0 0 POM121L12 285877 broad.mit.edu 37 7 53103789 53103789 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr7:53103789C>T uc003tpz.2 + 1 441 c.425C>T c.(424-426)GCG>GTG p.A142V NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN POM121 membrane glycoprotein-like 12 142 0 ATCGGGATCGCGCCCCCTGAG 0.587 NA 13 30 0 0 0 0 EGFR 1956 broad.mit.edu 37 7 55224337 55224337 + Missense_Mutation SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr7:55224337C>A uc003tqk.2 + 9 1364 c.1118C>A c.(1117-1119)CCG>CAG p.P373Q EGFR_uc003tqh.2_Missense_Mutation_p.P373Q|EGFR_uc003tqi.2_Missense_Mutation_p.P373Q|EGFR_uc003tqj.2_Missense_Mutation_p.P373Q|EGFR_uc010kzg.1_Missense_Mutation_p.P328Q|EGFR_uc011kco.1_Missense_Mutation_p.P320Q|EGFR_uc011kcp.1_RNA|EGFR_uc011kcq.1_RNA NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 373 Extracellular (Potential). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) CACATCCTGCCGGTGGCATTT 0.403 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 13 57 1.36e-06 1.44e-06 1 0 SUMF2 25870 broad.mit.edu 37 7 56142396 56142396 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr7:56142396G>A uc003trv.2 + 5 590 c.559G>A c.(559-561)GAG>AAG p.E187K PSPH_uc003trj.2_Intron|SUMF2_uc011kcv.1_Intron|SUMF2_uc011kcw.1_Missense_Mutation_p.E187K|SUMF2_uc011kcx.1_Intron|SUMF2_uc003trt.2_Missense_Mutation_p.E80K|SUMF2_uc011kcy.1_Missense_Mutation_p.E172K|SUMF2_uc011kcz.1_Intron|SUMF2_uc003tru.2_Intron|SUMF2_uc011kda.1_Intron|SUMF2_uc003trx.2_Intron NM_001130069 NP_001123541 Q8NBJ7 SUMF2_HUMAN sulfatase modifying factor 2 isoform e 168 endoplasmic reticulum lumen metal ion binding ovary(1)|skin(1) 2 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) CACGGAGGAAGAGTGGGAGTT 0.567 NA OREG0018081 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 112 0 0 0 0 LIMK1 3984 broad.mit.edu 37 7 73520530 73520530 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr7:73520530C>T uc003uaa.1 + 7 1003 c.838C>T c.(838-840)CCC>TCC p.P280S RFC2_uc011kfa.1_Intron|LIMK1_uc010lbl.1_RNA|LIMK1_uc003uab.2_Missense_Mutation_p.P246S|LIMK1_uc003uac.1_Missense_Mutation_p.P72S NM_002314 NP_002305 P53667 LIMK1_HUMAN LIM domain kinase 1 280 actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction cytosol|growth cone|nucleus ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding stomach(2)|ovary(1) 3 Lung NSC(55;0.137) GGCTTATACTCCCAGCGGGGA 0.657 NA 36 176 0 0 0 0 LIMK1 3984 broad.mit.edu 37 7 73521420 73521420 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr7:73521420C>G uc003uaa.1 + 8 1127 c.962C>G c.(961-963)TCT>TGT p.S321C RFC2_uc011kfa.1_Intron|LIMK1_uc010lbl.1_RNA|LIMK1_uc003uab.2_Missense_Mutation_p.S287C|LIMK1_uc003uac.1_Missense_Mutation_p.S113C NM_002314 NP_002305 P53667 LIMK1_HUMAN LIM domain kinase 1 321 actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction cytosol|growth cone|nucleus ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding stomach(2)|ovary(1) 3 Lung NSC(55;0.137) CTGGGTCGCTCTGAGTCCCTC 0.697 NA 3 18 0 0 0 0 CACNA2D1 781 broad.mit.edu 37 7 81662153 81662153 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr7:81662153C>T uc003uhr.1 - 12 1359 c.1103G>A c.(1102-1104)AGA>AAA p.R368K NM_000722 NP_000713 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 368 Extracellular (Potential).|VWFA. voltage-gated calcium channel complex metal ion binding ovary(5)|pancreas(1) 6 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) CTCCTGGGCTCTCTCTTCTCC 0.279 NA 13 24 0 0 0 0 STEAP4 79689 broad.mit.edu 37 7 87913538 87913538 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr7:87913538G>A uc003ujs.2 - 2 152 c.47C>T c.(46-48)TCA>TTA p.S16L STEAP4_uc010lek.2_Missense_Mutation_p.S16L|STEAP4_uc003ujt.2_Missense_Mutation_p.S16L NM_024636 NP_078912 Q687X5 STEA4_HUMAN tumor necrosis factor, alpha-induced protein 9 16 fat cell differentiation|ion transport|iron ion homeostasis Golgi membrane|integral to membrane|plasma membrane electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity 0 Esophageal squamous(14;0.00802) TTGCTTTTCTGAAGAATTCAT 0.353 NA 10 34 0 0 0 0 NPTX2 4885 broad.mit.edu 37 7 98256620 98256620 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr7:98256620C>G uc003upl.2 + 4 1209 c.1032C>G c.(1030-1032)ATC>ATG p.I344M NM_002523 NP_002514 P47972 NPTX2_HUMAN neuronal pentraxin II precursor 344 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) GGCACCCCATCAAGCCCGGGG 0.662 NA 16 40 0 0 0 0 TRRAP 8295 broad.mit.edu 37 7 98545957 98545957 + Silent SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr7:98545957G>C uc003upp.2 + 33 4850 c.4641G>C c.(4639-4641)CTG>CTC p.L1547L TRRAP_uc011kis.1_Silent_p.L1529L|TRRAP_uc003upr.2_Silent_p.L1246L NM_003496 NP_003487 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated 1547 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1) 37 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) GGGCGATGCTGATCGAGGTAA 0.512 NA 13 50 0 0 0 0 MCM7 4176 broad.mit.edu 37 7 99696309 99696309 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr7:99696309G>A uc003usw.1 - 6 1122 c.612C>T c.(610-612)ATC>ATT p.I204I MCM7_uc003usv.1_Silent_p.I28I|MCM7_uc003usx.1_Silent_p.I28I|AP4M1_uc011kjg.1_5'Flank|AP4M1_uc010lgl.1_5'Flank|AP4M1_uc003utb.3_5'Flank|AP4M1_uc003utc.3_5'Flank|AP4M1_uc010lgm.2_5'Flank|AP4M1_uc003utd.2_5'Flank NM_005916 NP_005907 P33993 MCM7_HUMAN minichromosome maintenance complex component 7 204 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle chromatin|MCM complex ATP binding|protein binding 0 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) Atorvastatin(DB01076) TTGGGCACATGATCAGAGGCA 0.517 NA 25 88 0 0 0 0 TAF6 6878 broad.mit.edu 37 7 99710524 99710524 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr7:99710524C>T uc003uti.2 - 6 552 c.471G>A c.(469-471)CAG>CAA p.Q157Q TAF6_uc003utg.2_Silent_p.Q79Q|TAF6_uc003uth.2_Silent_p.Q214Q|TAF6_uc003utk.2_Silent_p.Q157Q|TAF6_uc011kji.1_Silent_p.Q194Q|TAF6_uc003utj.2_Silent_p.Q147Q|TAF6_uc003utl.2_Silent_p.Q157Q|TAF6_uc003utm.2_Silent_p.Q157Q|TAF6_uc003utn.1_RNA NM_139315 NP_647476 P49848 TAF6_HUMAN TBP-associated factor 6 isoform alpha 157 negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1) 2 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CTTCAGCCTTCTGTTGCTCTT 0.532 NA 77 187 0 0 0 0 FBXL13 222235 broad.mit.edu 37 7 102553560 102553560 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr7:102553560G>C uc003vaq.2 - 11 1408 c.981C>G c.(979-981)ATC>ATG p.I327M FBXL13_uc010liq.1_Missense_Mutation_p.I142M|FBXL13_uc010lir.1_Missense_Mutation_p.I327M|FBXL13_uc003var.2_RNA|FBXL13_uc003vas.2_Missense_Mutation_p.I327M|LRRC17_uc003vat.2_5'UTR|LRRC17_uc003vau.2_5'UTR NM_145032 NP_659469 Q8NEE6 FXL13_HUMAN F-box and leucine-rich repeat protein 13 isoform 327 LRR 4. 0 GGTCCAGATAGATGAGCTTGT 0.488 NA 5 22 0 0 0 0 FSCN3 29999 broad.mit.edu 37 7 127236417 127236417 + Nonsense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr7:127236417C>T uc003vmd.1 + 3 1096 c.877C>T c.(877-879)CGA>TGA p.R293* FSCN3_uc011koh.1_Nonsense_Mutation_p.R159*|FSCN3_uc010llc.1_Nonsense_Mutation_p.R293* NM_020369 NP_065102 Q9NQT6 FSCN3_HUMAN fascin 3 293 actin cytoskeleton|cytoplasm actin filament binding|protein binding, bridging ovary(1) 1 GCGCTTAAACCGAATGTCCTT 0.537 NA 44 86 0 0 0 0 TMEM140 55281 broad.mit.edu 37 7 134849728 134849728 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr7:134849728G>C uc003vsi.2 + 2 816 c.535G>C c.(535-537)GAG>CAG p.E179Q C7orf49_uc003vsh.2_Intron NM_018295 NP_060765 Q9NV12 TM140_HUMAN transmembrane protein 140 179 Cytoplasmic (Potential). integral to membrane large_intestine(1) 1 TGAGAGGGCTGAGAGCAAGCT 0.557 NA 14 30 0 0 0 0 KIAA1549 57670 broad.mit.edu 37 7 138603406 138603406 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr7:138603406G>A uc011kql.1 - 2 1015 c.966C>T c.(964-966)TAC>TAT p.Y322Y KIAA1549_uc003vuk.3_Silent_p.Y272Y|KIAA1549_uc011kqj.1_Silent_p.Y322Y NM_020910 NP_065961 Q9HCM3 K1549_HUMAN hypothetical protein LOC57670 isoform 1 322 integral to membrane KIAA1549/BRAF(229) central_nervous_system(229)|pancreas(1) 230 TCACATCAGTGTATCTGTCTG 0.542 NA O BRAF pilocytic astrocytoma 36 48 0 0 0 0 PDGFRL 5157 broad.mit.edu 37 8 17486079 17486079 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr8:17486079C>T uc003wxr.2 + 4 650 c.589C>T c.(589-591)CGG>TGG p.R197W NM_006207 NP_006198 Q15198 PGFRL_HUMAN platelet-derived growth factor receptor-like 197 extracellular region platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity 0 Colorectal(111;0.0752) GGTTCCTTGTCGGGTGACCGT 0.532 NA 34 89 0 0 0 0 PIWIL2 55124 broad.mit.edu 37 8 22210625 22210625 + Nonsense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr8:22210625C>T uc003xbn.2 + 21 2705 c.2557C>T c.(2557-2559)CAG>TAG p.Q853* PIWIL2_uc011kzf.1_Nonsense_Mutation_p.Q853*|PIWIL2_uc010ltv.2_Nonsense_Mutation_p.Q853*|PIWIL2_uc003xbo.2_Nonsense_Mutation_p.Q7* NM_018068 NP_060538 Q8TC59 PIWL2_HUMAN piwi-like 2 853 Piwi. DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis chromatoid body|pi-body piRNA binding skin(1) 1 Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707) GTTTGTAGTTCAGAAGAAAAT 0.413 NA 33 68 0 0 0 0 BIN3 55909 broad.mit.edu 37 8 22494439 22494439 + Nonsense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr8:22494439G>A uc003xcl.2 - 3 191 c.94C>T c.(94-96)CAG>TAG p.Q32* BIN3_uc003xck.2_Silent_p.F4F|BIN3_uc010ltw.2_Intron NM_018688 NP_061158 Q9NQY0 BIN3_HUMAN bridging integrator 3 32 BAR.|Potential. actin filament organization|barrier septum formation|cell cycle|protein localization|unidimensional cell growth cytoplasm|cytoskeleton cytoskeletal adaptor activity 0 Prostate(55;0.0424)|Breast(100;0.102)|all_epithelial(46;0.143) BRCA - Breast invasive adenocarcinoma(99;0.00664)|Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727) ACTCACTGCTGAAGTTTTCCA 0.547 NA 10 44 0 0 0 0 TNFRSF10B 8795 broad.mit.edu 37 8 22886091 22886091 + Silent SNP G G T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr8:22886091G>T uc003xcu.2 - 5 794 c.501C>A c.(499-501)GTC>GTA p.V167V TNFRSF10B_uc003xcs.1_5'Flank|TNFRSF10B_uc003xct.2_Silent_p.V167V|TNFRSF10B_uc011kzq.1_Silent_p.V16V|TNFRSF10B_uc003xcv.2_Silent_p.V65V NM_003842 NP_003833 O14763 TR10B_HUMAN tumor necrosis factor receptor superfamily, 167 Extracellular (Potential).|TNFR-Cys 3. activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cell surface receptor linked signaling pathway|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|positive regulation of I-kappaB kinase/NF-kappaB cascade plasma membrane caspase activator activity|receptor activity|TRAIL binding 0 Prostate(55;0.0421)|Breast(100;0.067) Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703) TACAATCACCGACCTTGACCA 0.562 NA 32 96 9.78e-24 1.07e-23 1 0 UNC5D 137970 broad.mit.edu 37 8 35616848 35616848 + Nonsense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr8:35616848C>G uc003xjr.1 + 14 2502 c.2174C>G c.(2173-2175)TCA>TGA p.S725* UNC5D_uc003xjs.1_Nonsense_Mutation_p.S720*|UNC5D_uc003xju.1_Nonsense_Mutation_p.S301* NM_080872 NP_543148 Q6UXZ4 UNC5D_HUMAN unc-5 homolog D precursor 725 Cytoplasmic (Potential). apoptosis|axon guidance integral to membrane receptor activity upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1) 6 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) GAAGTGGTTTCAGATGAAAGG 0.378 NA 22 68 0 0 0 0 WHSC1L1 54904 broad.mit.edu 37 8 38162181 38162181 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr8:38162181G>A uc003xli.2 - 14 3053 c.2535C>T c.(2533-2535)CTC>CTT p.L845L WHSC1L1_uc011lbm.1_Silent_p.L845L|WHSC1L1_uc010lwe.2_Silent_p.L845L NM_023034 NP_075447 Q9BZ95 NSD3_HUMAN WHSC1L1 protein isoform long 845 cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome histone-lysine N-methyltransferase activity|zinc ion binding breast(1) 1 Colorectal(12;0.000442)|Esophageal squamous(3;0.0725) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065) Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511) TACTACAGATGAGAATGTAGG 0.438 NA T NUP98 AML 17 94 0 0 0 0 THAP1 55145 broad.mit.edu 37 8 42693174 42693174 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr8:42693174G>A uc003xpk.2 - 3 810 c.573C>T c.(571-573)GAC>GAT p.D191D THAP1_uc003xpl.2_3'UTR NM_018105 NP_060575 Q9NVV9 THAP1_HUMAN THAP domain containing, apoptosis associated 191 cell cycle|endothelial cell proliferation|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent PML body sequence-specific DNA binding|zinc ion binding 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;0.00026)|Acute lymphoblastic leukemia(644;0.000299)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.0377)|LUSC - Lung squamous cell carcinoma(45;0.0869) CTGATACGTCGTCTTTCTCTT 0.388 NA 24 87 0 0 0 0 HGSNAT 138050 broad.mit.edu 37 8 43048965 43048965 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr8:43048965G>A uc003xpx.3 + 14 1491 c.1443G>A c.(1441-1443)GTG>GTA p.V481V NM_152419 NP_689632 Q68CP4 HGNAT_HUMAN heparan-alpha-glucosaminide N-acetyltransferase 509 Helical; (Potential). V -> L (does not have any clinical significance; no loss of enzymatic activity). lysosomal transport|protein oligomerization integral to membrane|lysosomal membrane heparan-alpha-glucosaminide N-acetyltransferase activity 0 Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184) all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17) ACTCCATCGTGATGGCCTTTT 0.403 NA 24 62 0 0 0 0 KIAA1429 25962 broad.mit.edu 37 8 95508622 95508622 + Silent SNP T T C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr8:95508622T>C uc003ygo.1 - 18 4330 c.4317A>G c.(4315-4317)AAA>AAG p.K1439K KIAA1429_uc010maz.1_RNA NM_015496 NP_056311 Q69YN4 VIR_HUMAN hypothetical protein LOC25962 isoform 1 1439 mRNA processing|RNA splicing nucleus ovary(1)|skin(1) 2 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) GTAGAAGCTGTTTTAACTCTG 0.393 NA 17 35 0 0 0 0 TP53INP1 94241 broad.mit.edu 37 8 95942725 95942725 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr8:95942725C>T uc003yhg.2 - 4 1089 c.705G>A c.(703-705)CCG>CCA p.P235P C8orf38_uc003yhe.1_Intron|C8orf38_uc003yhf.2_Intron|TP53INP1_uc003yhh.2_3'UTR NM_033285 NP_150601 Q96A56 T53I1_HUMAN tumor protein p53 inducible nuclear protein 1 235 apoptosis PML body 0 Breast(36;8.75e-07) TGTACTGACGCGGGCAGGGCT 0.438 NA 53 115 0 0 0 0 TSPYL5 85453 broad.mit.edu 37 8 98289207 98289207 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr8:98289207C>G uc003yhy.2 - 1 970 c.866G>C c.(865-867)AGA>ACA p.R289T NM_033512 NP_277047 Q86VY4 TSYL5_HUMAN TSPY-like 5 289 cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth nucleus protein binding large_intestine(1)|ovary(1) 2 Breast(36;2.56e-06) GTAGCCCAATCTGGCAAGGCC 0.473 NA 27 69 0 0 0 0 OSR2 116039 broad.mit.edu 37 8 99963753 99963753 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr8:99963753C>G uc003yir.2 + 4 1298 c.763C>G c.(763-765)CCA>GCA p.P255A OSR2_uc003yiq.2_Intron|OSR2_uc011lgx.1_Missense_Mutation_p.P376A NM_001142462 NP_001135934 Q8N2R0 OSR2_HUMAN odd-skipped related 2 isoform a 255 bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|zinc ion binding central_nervous_system(1) 1 Breast(36;4.14e-07) OV - Ovarian serous cystadenocarcinoma(57;0.0136) ACAGGAATCTCCACACAAATG 0.428 NA 3 7 0 0 0 0 VPS13B 157680 broad.mit.edu 37 8 100866028 100866028 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr8:100866028G>A uc003yiv.2 + 56 10597 c.10486G>A c.(10486-10488)GAA>AAA p.E3496K VPS13B_uc003yiw.2_Missense_Mutation_p.E3471K NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 3496 protein transport ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1) 20 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) AGAGTTGGAAGAATACAAGGA 0.383 NA 23 63 0 0 0 0 WDR67 93594 broad.mit.edu 37 8 124109599 124109599 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr8:124109599G>C uc003ypp.1 + 6 839 c.749G>C c.(748-750)AGA>ACA p.R250T WDR67_uc011lig.1_Missense_Mutation_p.R250T|WDR67_uc011lih.1_Missense_Mutation_p.R140T|WDR67_uc003ypq.1_RNA|WDR67_uc003ypo.1_Missense_Mutation_p.R250T|WDR67_uc003ypr.2_RNA NM_145647 NP_663622 Q96DN5 WDR67_HUMAN WD repeat domain 67 isoform 1 250 WD 4. centrosome Rab GTPase activator activity skin(1) 1 Lung NSC(37;7e-10)|Ovarian(258;0.0205) STAD - Stomach adenocarcinoma(47;0.00527) CAGCTCTTTAGAATTATCCAG 0.408 NA 13 50 0 0 0 0 WDR67 93594 broad.mit.edu 37 8 124138784 124138784 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr8:124138784G>C uc003ypp.1 + 13 1831 c.1741G>C c.(1741-1743)GAA>CAA p.E581Q WDR67_uc011lig.1_Missense_Mutation_p.E581Q|WDR67_uc011lih.1_Missense_Mutation_p.E471Q|WDR67_uc003ypq.1_RNA|WDR67_uc003yps.1_Missense_Mutation_p.E294Q|WDR67_uc003ypt.1_Missense_Mutation_p.E38Q|WDR67_uc003ypu.1_Missense_Mutation_p.E38Q NM_145647 NP_663622 Q96DN5 WDR67_HUMAN WD repeat domain 67 isoform 1 581 Rab-GAP TBC. centrosome Rab GTPase activator activity skin(1) 1 Lung NSC(37;7e-10)|Ovarian(258;0.0205) STAD - Stomach adenocarcinoma(47;0.00527) TGTGTTCTCAGAAGTGCTGAC 0.368 NA 14 28 0 0 0 0 FAM91A1 157769 broad.mit.edu 37 8 124810476 124810476 + Nonsense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr8:124810476C>T uc003yqv.2 + 16 1619 c.1558C>T c.(1558-1560)CAG>TAG p.Q520* FAM91A1_uc011lik.1_Nonsense_Mutation_p.Q520*|FAM91A1_uc011lil.1_Nonsense_Mutation_p.Q278* NM_144963 NP_659400 Q658Y4 F91A1_HUMAN hypothetical protein LOC157769 520 ovary(1)|central_nervous_system(1) 2 Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00192) CTGCACCCCTCAGGTAAAGAC 0.453 NA 17 52 0 0 0 0 ZNF572 137209 broad.mit.edu 37 8 125989717 125989717 + Nonsense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr8:125989717C>T uc003yrr.2 + 3 1362 c.1207C>T c.(1207-1209)CAG>TAG p.Q403* NM_152412 NP_689625 Q7Z3I7 ZN572_HUMAN zinc finger protein 572 403 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) CATTAGACATCAGAGAACACA 0.423 NA HNSCC(60;0.17) 10 56 0 0 0 0 FAM135B 51059 broad.mit.edu 37 8 139164359 139164359 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr8:139164359C>T uc003yuy.2 - 13 2530 c.2359G>A c.(2359-2361)GAC>AAC p.D787N FAM135B_uc003yux.2_Missense_Mutation_p.D688N|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.D349N|FAM135B_uc003yvb.2_Missense_Mutation_p.D349N NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 787 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TGCTTGGTGTCCGCATCTTCA 0.522 NA HNSCC(54;0.14) 8 55 0 0 0 0 FAM135B 51059 broad.mit.edu 37 8 139164976 139164976 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr8:139164976G>C uc003yuy.2 - 13 1913 c.1742C>G c.(1741-1743)TCT>TGT p.S581C FAM135B_uc003yux.2_Missense_Mutation_p.S482C|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.S143C|FAM135B_uc003yvb.2_Missense_Mutation_p.S143C NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 581 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) CTTATCTCTAGAGCTCCTACT 0.478 NA HNSCC(54;0.14) 34 95 0 0 0 0 CYP11B1 1584 broad.mit.edu 37 8 143961152 143961152 + Silent SNP C C G rs147788769 TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr8:143961152C>G uc003yxi.2 - 1 85 c.78G>C c.(76-78)ACG>ACC p.T26T CYP11B1_uc003yxj.2_Silent_p.T26T|CYP11B1_uc010mey.2_Silent_p.T26T NM_000497 NP_000488 P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, 26 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity ovary(3) 3 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Mitotane(DB00648) GGGCGGCTCTCGTGCCCAGTG 0.652 NA Familial_Hyperaldosteronism_type_I 20 77 0 0 0 0 EPPK1 83481 broad.mit.edu 37 8 144943311 144943311 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr8:144943311C>T uc003zaa.1 - 1 4124 c.4111G>A c.(4111-4113)GGG>AGG p.G1371R NM_031308 NP_112598 P58107 EPIPL_HUMAN epiplakin 1 1371 Plectin 24. cytoplasm|cytoskeleton protein binding|structural molecule activity pancreas(1)|skin(1) 2 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) AGGTGCACCCCGTGGACAGGG 0.637 NA 8 31 0 0 0 0 PLEC 5339 broad.mit.edu 37 8 144991749 144991749 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr8:144991749C>T uc003zaf.1 - 32 12821 c.12651G>A c.(12649-12651)CTG>CTA p.L4217L PLEC_uc003zab.1_Silent_p.L4080L|PLEC_uc003zac.1_Silent_p.L4084L|PLEC_uc003zad.2_Silent_p.L4080L|PLEC_uc003zae.1_Silent_p.L4048L|PLEC_uc003zag.1_Silent_p.L4058L|PLEC_uc003zah.2_Silent_p.L4066L|PLEC_uc003zaj.2_Silent_p.L4107L NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 4217 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 AGGGGTCGGTCAGGATCTCGT 0.617 NA 12 45 0 0 0 0 PLEC 5339 broad.mit.edu 37 8 144998102 144998102 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr8:144998102C>G uc003zaf.1 - 31 6576 c.6406G>C c.(6406-6408)GAG>CAG p.E2136Q PLEC_uc003zab.1_Missense_Mutation_p.E1999Q|PLEC_uc003zac.1_Missense_Mutation_p.E2003Q|PLEC_uc003zad.2_Missense_Mutation_p.E1999Q|PLEC_uc003zae.1_Missense_Mutation_p.E1967Q|PLEC_uc003zag.1_Missense_Mutation_p.E1977Q|PLEC_uc003zah.2_Missense_Mutation_p.E1985Q|PLEC_uc003zaj.2_Missense_Mutation_p.E2026Q NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 2136 Central fibrous rod domain.|Potential. 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 CGTGCGGCCTCCTCCTCGGCC 0.746 NA 3 21 0 0 0 0 PLEC 5339 broad.mit.edu 37 8 145007122 145007122 + Nonsense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr8:145007122G>A uc003zaf.1 - 14 2157 c.1987C>T c.(1987-1989)CAG>TAG p.Q663* PLEC_uc003zab.1_Nonsense_Mutation_p.Q526*|PLEC_uc003zac.1_Nonsense_Mutation_p.Q530*|PLEC_uc003zad.2_Nonsense_Mutation_p.Q526*|PLEC_uc003zae.1_Nonsense_Mutation_p.Q494*|PLEC_uc003zag.1_Nonsense_Mutation_p.Q504*|PLEC_uc003zah.2_Nonsense_Mutation_p.Q512*|PLEC_uc003zaj.2_Nonsense_Mutation_p.Q553* NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 663 Spectrin 1.|Globular 1. 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 AGCAGGTCCTGCAGGTAGCGC 0.697 NA 6 29 0 0 0 0 ARHGAP39 80728 broad.mit.edu 37 8 145771162 145771162 + Missense_Mutation SNP C C G rs149131924 TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr8:145771162C>G uc003zdt.1 - 7 2547 c.1992G>C c.(1990-1992)GAG>GAC p.E664D ARHGAP39_uc011llk.1_Missense_Mutation_p.E664D|ARHGAP39_uc003zds.1_Missense_Mutation_p.E664D NM_025251 NP_079527 Q9C0H5 RHG39_HUMAN KIAA1688 protein 664 axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|nucleus GTPase activator activity 0 GCCGGCTGCTCTCGAACTGGG 0.677 NA 6 20 0 0 0 0 FOXD4 2298 broad.mit.edu 37 9 117879 117879 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr9:117879C>G uc003zfz.2 - 1 539 c.241G>C c.(241-243)GAG>CAG p.E81Q NM_207305 NP_997188 Q12950 FOXD4_HUMAN forkhead box D4 81 axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding skin(1) 1 all_lung(41;0.218) all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06) Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157) all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154) GTGCCAAACTCTGAGGGGTCG 0.711 NA 14 246 0 0 0 0 PTPRD 5789 broad.mit.edu 37 9 8524994 8524994 + Missense_Mutation SNP T T C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr9:8524994T>C uc003zkk.2 - 17 1321 c.610A>G c.(610-612)AAA>GAA p.K204E PTPRD_uc003zkp.2_Missense_Mutation_p.K204E|PTPRD_uc003zkq.2_Missense_Mutation_p.K204E|PTPRD_uc003zkr.2_Missense_Mutation_p.K198E|PTPRD_uc003zks.2_Missense_Mutation_p.K198E|PTPRD_uc003zkl.2_Missense_Mutation_p.K204E|PTPRD_uc003zkm.2_Missense_Mutation_p.K195E|PTPRD_uc003zkn.2_Missense_Mutation_p.K204E|PTPRD_uc003zko.2_Missense_Mutation_p.K201E NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 204 Extracellular (Potential).|Ig-like C2-type 2. 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) CACTCATATTTTCCTTGGTCA 0.348 NA TSP Lung(15;0.13) 49 135 0 0 0 0 TOPORS 10210 broad.mit.edu 37 9 32542604 32542604 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr9:32542604C>T uc003zrb.2 - 3 2086 c.1919G>A c.(1918-1920)AGA>AAA p.R640K TOPORS_uc003zrc.2_Missense_Mutation_p.R573K NM_005802 NP_005793 Q9NS56 TOPRS_HUMAN topoisomerase I binding, arginine/serine-rich 640 Arg-rich.|Interaction with TOP1.|Interaction with SUMO1.|Interaction with p53/TP53. DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent nuclear speck|PML body antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.0018) TTTGTCTCTTCTCCCTCTAGG 0.423 NA 80 236 0 0 0 0 PRSS3 5646 broad.mit.edu 37 9 33796723 33796723 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr9:33796723G>A uc003ztj.3 + 2 294 c.294G>A c.(292-294)CTG>CTA p.L98L uc003ztk.1_Intron|PRSS3_uc003zti.3_Silent_p.L55L|PRSS3_uc003ztl.3_Silent_p.L41L NM_007343 NP_031369 P35030 TRY3_HUMAN mesotrypsin isoform 1 preproprotein 98 Peptidase S1. digestion|endothelial cell migration|zymogen activation extracellular space calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity 0 LUSC - Lung squamous cell carcinoma(29;0.0176) AGGTGTCCCTGAATTCTGGCT 0.547 NA 7 178 0 0 0 0 FAM75A6 389730 broad.mit.edu 37 9 43627818 43627818 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr9:43627818G>A uc011lrb.1 - 4 898 c.869C>T c.(868-870)TCG>TTG p.S290L NM_001145196 NP_001138668 Q5VVP1 F75A6_HUMAN hypothetical protein LOC389730 290 integral to membrane 0 AAAGGCGCACGAGGTTCTGGC 0.552 NA 83 82 0 0 0 0 PRUNE2 158471 broad.mit.edu 37 9 79244121 79244121 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr9:79244121C>T uc010mpk.2 - 16 9260 c.9136G>A c.(9136-9138)GAG>AAG p.E3046K PRUNE2_uc011lsk.1_Missense_Mutation_p.E295K|PRUNE2_uc011lsl.1_Missense_Mutation_p.E310K|PRUNE2_uc011lsm.1_Missense_Mutation_p.E311K|PRUNE2_uc004akj.3_Missense_Mutation_p.E500K NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN prune homolog 2 3046 CRAL-TRIO. apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity 0 ATGATGCTCTCTGGAATGTGG 0.274 NA 4 14 0 0 0 0 UBQLN1 29979 broad.mit.edu 37 9 86276731 86276731 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr9:86276731C>T uc004amv.2 - 11 2315 c.1741G>A c.(1741-1743)GAA>AAA p.E581K UBQLN1_uc004amw.2_Missense_Mutation_p.E553K NM_013438 NP_038466 Q9UMX0 UBQL1_HUMAN ubiquilin 1 isoform 1 581 UBA. apoptosis|regulation of protein ubiquitination|response to hypoxia endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex kinase binding 0 AGTAACCTTTCAATAGCTGCA 0.383 NA 24 69 0 0 0 0 KIF27 55582 broad.mit.edu 37 9 86518439 86518439 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr9:86518439G>C uc004ana.2 - 4 1138 c.994C>G c.(994-996)CTC>GTC p.L332V KIF27_uc010mpw.2_Missense_Mutation_p.L332V|KIF27_uc010mpx.2_Missense_Mutation_p.L332V NM_017576 NP_060046 Q86VH2 KIF27_HUMAN kinesin family member 27 332 cilium assembly|microtubule-based movement cilium|cytoplasm|microtubule ATP binding|microtubule motor activity lung(4)|skin(1) 5 GCATATTTGAGAGAATTTAAG 0.433 NA 22 80 0 0 0 0 BICD2 23299 broad.mit.edu 37 9 95481630 95481630 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr9:95481630C>G uc004aso.1 - 5 1354 c.1297G>C c.(1297-1299)GAG>CAG p.E433Q BICD2_uc004asp.1_Missense_Mutation_p.E433Q NM_015250 NP_056065 Q8TD16 BICD2_HUMAN bicaudal D homolog 2 isoform 2 433 Potential. microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane Rab GTPase binding skin(1) 1 GCCAAGATCTCAGGCCCGTTG 0.637 NA 6 56 0 0 0 0 KIAA1529 57653 broad.mit.edu 37 9 100056386 100056386 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr9:100056386G>A uc011lut.1 + 11 1017 c.244G>A c.(244-246)GAC>AAC p.D82N KIAA1529_uc011lur.1_RNA|KIAA1529_uc004axe.1_Missense_Mutation_p.D82N|KIAA1529_uc011lus.1_Intron|KIAA1529_uc010msm.1_RNA NM_020893 NP_065944 hypothetical protein LOC57653 ovary(4)|large_intestine(2)|skin(1) 7 Acute lymphoblastic leukemia(62;0.154) TGAGGGAGCAGACATGGGTAA 0.607 NA 21 50 0 0 0 0 SVEP1 79987 broad.mit.edu 37 9 113169862 113169862 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr9:113169862G>A uc010mtz.2 - 38 8355 c.8018C>T c.(8017-8019)TCA>TTA p.S2673L SVEP1_uc010mty.2_Missense_Mutation_p.S599L NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN polydom 2673 Sushi 21. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding ovary(7) 7 CAGAAAGTTTGATGAATGTGT 0.443 NA 55 167 0 0 0 0 WDR31 114987 broad.mit.edu 37 9 116083793 116083793 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr9:116083793G>A uc004bhe.2 - 8 888 c.636C>T c.(634-636)CTC>CTT p.L212L WDR31_uc004bhc.2_Silent_p.L211L|WDR31_uc004bhd.2_Silent_p.L87L|WDR31_uc004bhf.2_RNA NM_001012361 NP_001012361 Q8NA23 WDR31_HUMAN WD repeat domain 31 isoform 1 212 WD 4. 0 AAGCCCACCTGAGGGTTTTAT 0.478 NA 13 26 0 0 0 0 HDHD3 81932 broad.mit.edu 37 9 116136231 116136231 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr9:116136231G>C uc004bhi.1 - 2 1188 c.404C>G c.(403-405)TCC>TGC p.S135C HDHD3_uc004bhj.2_Missense_Mutation_p.S135C|HDHD3_uc004bhk.2_Missense_Mutation_p.S135C NM_031219 NP_112496 Q9BSH5 HDHD3_HUMAN haloacid dehalogenase-like hydrolase domain 135 phosphoglycolate phosphatase activity|protein binding 0 GTCAAAGTTGGAGATCACTGC 0.622 NA 43 137 0 0 0 0 OR1L3 26735 broad.mit.edu 37 9 125438072 125438072 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr9:125438072C>T uc011lzb.1 + 1 664 c.664C>T c.(664-666)CTC>TTC p.L222F NM_001005234 NP_001005234 Q8NH93 OR1L3_HUMAN olfactory receptor, family 1, subfamily L, 222 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 TCTAAGAATTCTCATCGCTGT 0.468 NA 23 72 0 0 0 0 GAPVD1 26130 broad.mit.edu 37 9 128086134 128086134 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr9:128086134C>T uc010mwx.2 + 11 2116 c.1790C>T c.(1789-1791)TCA>TTA p.S597L GAPVD1_uc011lzs.1_Missense_Mutation_p.S597L|GAPVD1_uc004bpp.2_Missense_Mutation_p.S597L|GAPVD1_uc004bpq.2_Missense_Mutation_p.S597L|GAPVD1_uc004bpr.2_Missense_Mutation_p.S576L|GAPVD1_uc004bps.2_Missense_Mutation_p.S597L|GAPVD1_uc010mwy.1_Missense_Mutation_p.S456L NM_015635 NP_056450 Q14C86 GAPD1_HUMAN GTPase activating protein and VPS9 domains 1 597 endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction cytosol|endosome|membrane GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity ovary(2)|central_nervous_system(1)|skin(1) 4 GAGTCTGTGTCAGAACTTGGA 0.428 NA 11 53 0 0 0 0 FUBP3 8939 broad.mit.edu 37 9 133507625 133507625 + Missense_Mutation SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr9:133507625C>A uc004bzr.1 + 16 1578 c.1470C>A c.(1468-1470)AGC>AGA p.S490R FUBP3_uc004bzs.1_Missense_Mutation_p.S403R NM_003934 NP_003925 Q96I24 FUBP3_HUMAN far upstream element (FUSE) binding protein 3 490 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|RNA binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(145;0.000279) GCTGGGGCAGCACCTACCAGG 0.622 NA 12 32 4.38e-07 4.65e-07 1 0 RALGDS 5900 broad.mit.edu 37 9 135982483 135982483 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr9:135982483C>T uc004cco.2 - 7 1422 c.1402G>A c.(1402-1404)GAG>AAG p.E468K RALGDS_uc004ccp.2_RNA|RALGDS_uc004ccq.2_Missense_Mutation_p.E456K|RALGDS_uc004ccr.2_Missense_Mutation_p.E467K|RALGDS_uc011mcv.1_Missense_Mutation_p.E439K|RALGDS_uc004ccs.2_Missense_Mutation_p.E413K|RALGDS_uc011mcw.1_Missense_Mutation_p.E539K|RALGDS_uc004ccv.1_Missense_Mutation_p.E237K|RALGDS_uc004ccu.1_Missense_Mutation_p.E237K NM_006266 NP_006257 Q12967 GNDS_HUMAN ral guanine nucleotide dissociation stimulator 468 Ras-GEF. nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol Ral guanyl-nucleotide exchange factor activity large_intestine(1)|lung(1)|ovary(1) 3 OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05) CTGGCCACCTCGATCCAGTGC 0.622 NA T CIITA PMBL|Hodgkin Lymphona| 12 57 0 0 0 0 RALGDS 5900 broad.mit.edu 37 9 135985044 135985044 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr9:135985044C>T uc004cco.2 - 4 573 c.553G>A c.(553-555)GAG>AAG p.E185K RALGDS_uc004ccp.2_RNA|RALGDS_uc004ccq.2_Missense_Mutation_p.E173K|RALGDS_uc004ccr.2_Missense_Mutation_p.E184K|RALGDS_uc011mcv.1_Missense_Mutation_p.E156K|RALGDS_uc004ccs.2_Missense_Mutation_p.E130K|RALGDS_uc011mcw.1_Missense_Mutation_p.E256K|RALGDS_uc004ccv.1_5'Flank|RALGDS_uc004ccu.1_5'Flank NM_006266 NP_006257 Q12967 GNDS_HUMAN ral guanine nucleotide dissociation stimulator 185 N-terminal Ras-GEF. nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol Ral guanyl-nucleotide exchange factor activity large_intestine(1)|lung(1)|ovary(1) 3 OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05) CCACCATCCTCGTCGGAATAG 0.418 NA T CIITA PMBL|Hodgkin Lymphona| 18 61 0 0 0 0 SARDH 1757 broad.mit.edu 37 9 136596561 136596561 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr9:136596561C>G uc004cep.3 - 4 690 c.556G>C c.(556-558)GAG>CAG p.E186Q SARDH_uc004ceo.2_Missense_Mutation_p.E186Q|SARDH_uc011mdn.1_Missense_Mutation_p.E186Q|SARDH_uc011mdo.1_Missense_Mutation_p.E18Q NM_001134707 NP_001128179 Q9UL12 SARDH_HUMAN sarcosine dehydrogenase precursor 186 glycine catabolic process mitochondrial matrix aminomethyltransferase activity|sarcosine dehydrogenase activity 0 OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05) GTCTTGGTCTCTGCCGGGCTC 0.627 NA 7 71 0 0 0 0 PMPCA 23203 broad.mit.edu 37 9 139309033 139309033 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr9:139309033G>C uc004chl.2 + 5 471 c.466G>C c.(466-468)GAT>CAT p.D156H PMPCA_uc011mdy.1_Missense_Mutation_p.D156H|PMPCA_uc010nbk.2_RNA|PMPCA_uc010nbl.2_Missense_Mutation_p.D56H|PMPCA_uc011mdz.1_Intron|PMPCA_uc004chm.1_5'Flank NM_015160 NP_055975 Q10713 MPPA_HUMAN peptidase (mitochondrial processing) alpha 156 proteolysis mitochondrial inner membrane|mitochondrial matrix metalloendopeptidase activity|zinc ion binding 0 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05) TGTGTCTGCTGATAGCAAAGG 0.572 NA 6 94 0 0 0 0 MAMDC4 158056 broad.mit.edu 37 9 139749723 139749723 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr9:139749723G>A uc004cjs.2 + 11 1265 c.1215G>A c.(1213-1215)CAG>CAA p.Q405Q MAMDC4_uc011mej.1_Intron NM_206920 NP_996803 Q6UXC1 AEGP_HUMAN apical early endosomal glycoprotein precursor 405 MAM 2.|Extracellular (Potential). protein transport integral to membrane breast(4)|upper_aerodigestive_tract(2)|central_nervous_system(1) 7 all_cancers(76;0.0763)|all_epithelial(76;0.198) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171) TGGCCGGGCAGACAGGCCCGG 0.672 NA 21 22 0 0 0 0 ABCA2 20 broad.mit.edu 37 9 139909920 139909920 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr9:139909920C>T uc011mem.1 - 23 3788 c.3640G>A c.(3640-3642)GAC>AAC p.D1214N ABCA2_uc011mel.1_Missense_Mutation_p.D1215N|ABCA2_uc004ckl.1_Missense_Mutation_p.D1145N|ABCA2_uc004ckm.1_Missense_Mutation_p.D1245N|ABCA2_uc004ckn.1_RNA NM_001606 NP_001597 Q9BZC7 ABCA2_HUMAN ATP-binding cassette, sub-family A, member 2 1214 ABC transporter 1. cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances 0 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) CGGTACCCGTCGCCATAGGTG 0.662 NA 3 10 0 0 0 0 ABCA2 20 broad.mit.edu 37 9 139910481 139910481 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr9:139910481C>T uc011mem.1 - 21 3395 c.3247G>A c.(3247-3249)GAA>AAA p.E1083K ABCA2_uc011mel.1_Missense_Mutation_p.E1084K|ABCA2_uc004ckl.1_Missense_Mutation_p.E1014K|ABCA2_uc004ckm.1_Missense_Mutation_p.E1114K|ABCA2_uc004ckn.1_RNA NM_001606 NP_001597 Q9BZC7 ABCA2_HUMAN ATP-binding cassette, sub-family A, member 2 1083 ABC transporter 1. cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances 0 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) CAGAGGTGTTCCTCCACCGTG 0.622 NA 23 35 0 0 0 0 ABCA2 20 broad.mit.edu 37 9 139910547 139910547 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr9:139910547C>T uc011mem.1 - 21 3329 c.3181G>A c.(3181-3183)GAG>AAG p.E1061K ABCA2_uc011mel.1_Missense_Mutation_p.E1062K|ABCA2_uc004ckl.1_Missense_Mutation_p.E992K|ABCA2_uc004ckm.1_Missense_Mutation_p.E1092K|ABCA2_uc004ckn.1_RNA NM_001606 NP_001597 Q9BZC7 ABCA2_HUMAN ATP-binding cassette, sub-family A, member 2 1061 ABC transporter 1. cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances 0 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) TTGCGGATCTCATCCATCTCC 0.612 NA 31 63 0 0 0 0 ABCA2 20 broad.mit.edu 37 9 139913234 139913234 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr9:139913234C>T uc011mem.1 - 12 1901 c.1753G>A c.(1753-1755)GAG>AAG p.E585K ABCA2_uc011mel.1_Missense_Mutation_p.E586K|ABCA2_uc004ckl.1_Missense_Mutation_p.E516K|ABCA2_uc004ckm.1_Missense_Mutation_p.E616K|ABCA2_uc004ckn.1_5'Flank|ABCA2_uc004cko.1_Missense_Mutation_p.E362K NM_001606 NP_001597 Q9BZC7 ABCA2_HUMAN ATP-binding cassette, sub-family A, member 2 585 cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances 0 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) ATGCTCTCCTCGTCGTGGAAG 0.527 NA 17 51 0 0 0 0 BMX 660 broad.mit.edu 37 X 15560113 15560113 + Missense_Mutation SNP G G T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chrX:15560113G>T uc004cww.2 + 15 1591 c.1403G>T c.(1402-1404)AGC>ATC p.S468I BMX_uc004cwx.3_Missense_Mutation_p.S468I|BMX_uc004cwy.3_Missense_Mutation_p.S468I NM_203281 NP_975010 P51813 BMX_HUMAN BMX non-receptor tyrosine kinase 468 Protein kinase. cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development cytosol ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity lung(3)|ovary(2) 5 Hepatocellular(33;0.183) AGGAAACTCAGCCATCCCAAG 0.373 NA 35 46 2.49e-23 2.72e-23 1 0 DMD 1756 broad.mit.edu 37 X 32398771 32398771 + Missense_Mutation SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chrX:32398771C>A uc004dda.1 - 34 4945 c.4701G>T c.(4699-4701)GAG>GAT p.E1567D DMD_uc004dcw.2_Missense_Mutation_p.E223D|DMD_uc004dcx.2_Missense_Mutation_p.E226D|DMD_uc004dcz.2_Missense_Mutation_p.E1444D|DMD_uc004dcy.1_Missense_Mutation_p.E1563D|DMD_uc004ddb.1_Missense_Mutation_p.E1559D|DMD_uc010ngo.1_Intron NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 1567 Spectrin 10.|Interaction with SYNM (By similarity). muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TCAAGCATTTCTCCAACTGTT 0.338 NA 23 17 1.28e-07 1.36e-07 1 0 USP9X 8239 broad.mit.edu 37 X 41000592 41000592 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chrX:41000592G>A uc004dfb.2 + 9 1702 c.1069G>A c.(1069-1071)GAA>AAA p.E357K USP9X_uc004dfc.2_Missense_Mutation_p.E357K NM_001039590 NP_001034679 Q93008 USP9X_HUMAN ubiquitin specific protease 9, X-linked isoform 357 BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity lung(3)|breast(2)|ovary(1) 6 TGCACTGAATGAAGTTAATAA 0.348 NA 10 5 0 0 0 0 SLC9A7 84679 broad.mit.edu 37 X 46472745 46472745 + Silent SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chrX:46472745C>G uc004dgu.1 - 16 1913 c.1905G>C c.(1903-1905)CTG>CTC p.L635L NM_032591 NP_115980 Q96T83 SL9A7_HUMAN solute carrier family 9, member 7 635 regulation of pH Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity ovary(2) 2 GGGGACTGGTCAGACATCGAG 0.512 NA 19 27 0 0 0 0 CFP 5199 broad.mit.edu 37 X 47485839 47485839 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chrX:47485839G>A uc004dig.3 - 7 1146 c.1020C>T c.(1018-1020)ATC>ATT p.I340I CFP_uc004dih.2_Silent_p.I340I|CFP_uc004dii.1_Silent_p.I276I|CFP_uc010nhu.2_Silent_p.I340I NM_001145252 NP_001138724 P27918 PROP_HUMAN complement factor properdin precursor 340 TSP type-1 5. complement activation, alternative pathway|defense response to bacterium extracellular space breast(2)|lung(1) 3 GCTGGCCCGGGATTTCTTGAC 0.617 NA 15 10 0 0 0 0 CACNA1F 778 broad.mit.edu 37 X 49076130 49076130 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chrX:49076130C>T uc004dnb.2 - 20 2601 c.2539G>A c.(2539-2541)GAG>AAG p.E847K CACNA1F_uc010nip.2_Missense_Mutation_p.E836K NM_005183 NP_005174 O60840 CAC1F_HUMAN calcium channel, voltage-dependent, L type, 847 Cytoplasmic (Potential). axon guidance|detection of light stimulus involved in visual perception voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity breast(3)|ovary(1)|kidney(1)|skin(1) 6 Verapamil(DB00661) GCGCTGCCCTCAGGGATGGGT 0.512 NA 3 3 0 0 0 0 AKAP4 8852 broad.mit.edu 37 X 49958507 49958507 + Missense_Mutation SNP A A G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chrX:49958507A>G uc004dow.1 - 5 981 c.857T>C c.(856-858)ATG>ACG p.M286T AKAP4_uc004dov.1_Intron|AKAP4_uc010njp.1_Missense_Mutation_p.M108T|AKAP4_uc004dou.1_Missense_Mutation_p.M277T NM_003886 NP_003877 Q5JQC9 AKAP4_HUMAN A-kinase anchor protein 4 isoform 1 286 cell projection organization|single fertilization|sperm motility cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum protein kinase A binding kidney(3)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1) 8 Ovarian(276;0.236) AGTGCCACGCATTTCTGCAGC 0.498 NA 15 21 0 0 0 0 HUWE1 10075 broad.mit.edu 37 X 53602642 53602642 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chrX:53602642C>G uc004dsp.2 - 45 6393 c.5991G>C c.(5989-5991)CAG>CAC p.Q1997H HUWE1_uc004dsn.2_Missense_Mutation_p.Q821H NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 1997 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity ovary(8)|large_intestine(4)|breast(4)|kidney(1) 17 AGTCACTGCTCTGACGCGTAA 0.448 NA 6 7 0 0 0 0 PIN4 5303 broad.mit.edu 37 X 71401627 71401627 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chrX:71401627G>A uc004eam.2 + 1 102 c.67G>A c.(67-69)GCT>ACT p.A23T PIN4_uc004eao.1_Missense_Mutation_p.A23T NM_006223 NP_006214 Q9Y237 PIN4_HUMAN protein (peptidyl-prolyl cis/trans isomerase) Error:Variant_position_missing_in_Q9Y237_after_alignment protein folding|rRNA processing cytoplasm|mitochondrial matrix|mitochondrial matrix|nucleolus|nucleolus|preribosome|spindle|spindle bent DNA binding|DNA binding|double-stranded DNA binding|peptidyl-prolyl cis-trans isomerase activity 0 Renal(35;0.156) TCAACAACAAGCTTCCAAGAT 0.547 NA 5 11 0 0 0 0 UPRT 139596 broad.mit.edu 37 X 74519710 74519710 + Missense_Mutation SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chrX:74519710C>A uc004ecb.1 + 5 832 c.703C>A c.(703-705)CTT>ATT p.L235I UPRT_uc004ecc.1_RNA|UPRT_uc004ecd.1_Missense_Mutation_p.L235I|UPRT_uc004ece.1_Missense_Mutation_p.L99I NM_145052 NP_659489 Q96BW1 UPP_HUMAN uracil phosphoribosyltransferase (FUR1) homolog 235 nucleoside metabolic process cytoplasm|nucleus 0 GAGAAAAGTCCTTCTGATGTA 0.413 NA 37 23 5.04e-16 5.48e-16 1 0 TAF7L 54457 broad.mit.edu 37 X 100532640 100532640 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chrX:100532640C>G uc004ehb.2 - 9 915 c.903G>C c.(901-903)TTG>TTC p.L301F TAF7L_uc004eha.2_Missense_Mutation_p.L215F|TAF7L_uc004ehc.1_Missense_Mutation_p.L215F NM_024885 NP_079161 Q5H9L4 TAF7L_HUMAN TATA box binding protein-associated factor, RNA 301 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter cytoplasm|transcription factor TFIID complex binding breast(1) 1 CCGAGGATATCAAAAATCCTG 0.468 NA 20 97 0 0 0 0 SLC6A14 11254 broad.mit.edu 37 X 115585606 115585606 + Nonsense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chrX:115585606C>T uc004eqi.2 + 10 1506 c.1402C>T c.(1402-1404)CAG>TAG p.Q468* NM_007231 NP_009162 Q9UN76 S6A14_HUMAN solute carrier family 6 (amino acid 468 Helical; Name=9; (Potential). cellular amino acid metabolic process|response to toxin integral to membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity ovary(2)|pancreas(1) 3 L-Proline(DB00172) CTGTGTGACTCAGGTATACTA 0.358 NA 17 21 0 0 0 0 MCTS1 28985 broad.mit.edu 37 X 119738100 119738100 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chrX:119738100G>C uc004esx.2 + 1 357 c.9G>C c.(7-9)AAG>AAC p.K3N MCTS1_uc011mub.1_5'Flank NM_014060 NP_054779 Q9ULC4 MCTS1_HUMAN malignant T cell amplified sequence 1 isoform 1 3 cell cycle|positive regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm RNA binding 0 TCATGTTCAAGAAGTAAGGAC 0.582 NA 8 24 0 0 0 0 THOC2 57187 broad.mit.edu 37 X 122866817 122866817 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chrX:122866817G>A uc004etu.2 - 1 88 c.56C>T c.(55-57)TCA>TTA p.S19L THOC2_uc011mui.1_5'UTR NM_001081550 NP_001075019 Q8NI27 THOC2_HUMAN THO complex 2 19 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 GCCTCTCCCTGATTTCTCCCA 0.632 NA OREG0003979|OREG0003978 type=REGULATORY REGION|Gene=THOC2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|Gene=BC041435|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 7 37 0 0 0 0 MAGEA6 4105 broad.mit.edu 37 X 151870254 151870254 + Nonstop_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chrX:151870254G>C uc004ffq.1 + 3 1138 c.944G>C c.(943-945)TGA>TCA p.*315S MAGEA6_uc004ffr.1_Nonstop_Mutation_p.*315S|MAGEA2_uc010nto.2_Intron NM_005363 NP_005354 P43360 MAGA6_HUMAN melanoma antigen family A, 6 315 protein binding 0 Acute lymphoblastic leukemia(192;6.56e-05) GGGGAAGAGTGAGTCTGAGCA 0.577 NA 29 60 0 0 0 0 G6PD 2539 broad.mit.edu 37 X 153760233 153760233 + Silent SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chrX:153760233C>A uc004fly.1 - 13 1643 c.1530G>T c.(1528-1530)GTG>GTT p.V510V G6PD_uc004flx.1_Silent_p.V540V NM_001042351 NP_001035810 P11413 G6PD_HUMAN glucose-6-phosphate dehydrogenase isoform b 510 cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity ovary(4) 4 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TGTGGGGGTTCACCCACTTGT 0.677 NA 7 9 8.13e-05 8.47e-05 1 0 OR4A47 403253 broad.mit.edu 37 11 48510865 48510866 + Frame_Shift_Ins INS - - T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr11:48510865_48510866insT uc010rhx.1 + 1 521_522 c.521_522insT c.(520-522)CATfs p.H174fs NM_001005512 NP_001005512 Q6IF82 O4A47_HUMAN olfactory receptor, family 4, subfamily A, 174 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 GTCATTGATCATTTTTTCTGTG 0.465 NA 11 172 --- --- --- --- NA NA NA NA ZNF750 79755 broad.mit.edu 37 17 80790179 80790179 + Frame_Shift_Del DEL T T - TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr17:80790179delT uc002kga.2 - 2 463 c.152delA c.(151-153)AACfs p.N51fs TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron NM_024702 NP_078978 Q32MQ0 ZN750_HUMAN zinc finger protein 750 51 intracellular zinc ion binding central_nervous_system(1) 1 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0514)|all_epithelial(8;0.0748) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149) AGTAATCGAGTTTTTACAAAG 0.433 NA 46 50 --- --- --- --- NA NA NA NA STK11 6794 broad.mit.edu 37 19 1221270 1221270 + Frame_Shift_Del DEL G G - TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr19:1221270delG uc002lrl.1 + 6 1908 c.793delG c.(793-795)GAGfs p.E265fs NM_000455 NP_000446 Q15831 STK11_HUMAN serine/threonine protein kinase 11 265 Protein kinase. anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(19)|p.?(2)|p.Y246fs*3(1) lung(174)|cervix(35)|skin(15)|large_intestine(12)|pancreas(6)|gastrointestinal_tract_(site_indeterminate)(5)|stomach(4)|ovary(4)|breast(2)|upper_aerodigestive_tract(1)|testis(1)|liver(1)|biliary_tract(1)|small_intestine(1)|urinary_tract(1)|oesophagus(1)|prostate(1)|kidney(1) 266 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137) 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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) CAAGTTGTTTGAGAACATCGG 0.597 14 D|Mis|N|F|S NSCLC|pancreatic jejunal harmartoma|ovarian|testicular|pancreatic Peutz-Jeghers_syndrome TSP Lung(3;<1E-08) 5 8 --- --- --- --- NA NA NA NA ENAM 10117 broad.mit.edu 37 4 71508386 71508409 + In_Frame_Del DEL ACTACTGTTGCCCCACTGGGTCCC ACTACTGTTGCCCCACTGGGTCCC - rs111931241 TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr4:71508386_71508409delACTACTGTTGCCCCACTGGGTCCC uc011caw.1 + 9 1524_1547 c.1243_1266delACTACTGTTGCCCCACTGGGTCCC c.(1243-1266)ACTACTGTTGCCCCACTGGGTCCCdel p.TTVAPLGP415del NM_031889 NP_114095 Q9NRM1 ENAM_HUMAN enamelin precursor 415_422 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel ovary(3) 3 Lung(101;0.235) CCCTGTAGGAACTACTGTTGCCCCACTGGGTCCCAAACCTGGCC 0.451 NA 9 94 --- --- --- --- NA NA NA NA SLC39A7 7922 broad.mit.edu 37 6 33169037 33169037 + Frame_Shift_Del DEL G G - TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr6:33169037delG uc003odf.2 + 2 132 c.15delG c.(13-15)CTGfs p.L5fs RXRB_uc003odb.2_5'Flank|RXRB_uc003odc.2_5'Flank|RXRB_uc003odd.2_5'Flank|RXRB_uc011dqr.1_5'Flank|RXRB_uc011dqs.1_5'Flank|RXRB_uc003ode.1_5'Flank|RXRB_uc011dqt.1_5'Flank|RXRB_uc011dqu.1_5'Flank|SLC39A7_uc003odg.2_Frame_Shift_Del_p.L5fs|SLC39A7_uc011dqv.1_5'UTR|SLC39A7_uc003odh.2_5'Flank NM_001077516 NP_001070984 Q92504 S39A7_HUMAN solute carrier family 39, member 7 5 endoplasmic reticulum membrane|integral to membrane|membrane fraction protein binding|zinc ion transmembrane transporter activity large_intestine(1) 1 CCAGAGGCCTGGGGGCCCCCC 0.637 NA 8 156 --- --- --- --- NA NA NA NA UHRF1BP1 54887 broad.mit.edu 37 6 34839418 34839419 + Frame_Shift_Ins INS - - T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr6:34839418_34839419insT uc003oju.3 + 19 4273_4274 c.4039_4040insT c.(4039-4041)ATGfs p.M1347fs UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA|UHRF1BP1_uc010jvo.2_RNA NM_017754 NP_060224 Q6BDS2 URFB1_HUMAN ICBP90 binding protein 1 1347 ovary(3) 3 CACTCTGGCCATGGAACATGTT 0.525 NA 21 38 --- --- --- --- NA NA NA NA ZNF107 51427 broad.mit.edu 37 7 64168926 64168927 + Frame_Shift_Ins INS - - A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr7:64168926_64168927insA uc003ttd.2 + 7 3030_3031 c.2244_2245insA c.(2242-2247)TACAAAfs p.Y748fs ZNF107_uc003tte.2_Frame_Shift_Ins_p.Y748fs NM_016220 NP_057304 Q9UII5 ZN107_HUMAN zinc finger protein 107 748_749 C2H2-type 25; atypical. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Lung NSC(55;0.00948)|all_lung(88;0.0249) AGAAACCCTACAAATGTGGAGA 0.361 NA 13 19 --- --- --- --- NA NA NA NA