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 SLC2A7 155184 broad.mit.edu 37 1 9086388 9086388 + Missense_Mutation SNP G G T rs150973958 byFrequency TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr1:9086388G>T uc009vmo.1 - 1 17 c.17C>A c.(16-18)GCG>GAG p.A6E NM_207420 NP_997303 Q6PXP3 GTR7_HUMAN intestinal facilitative glucose transporter 7 6 Cytoplasmic (Potential). integral to membrane|plasma membrane sugar transmembrane transporter activity 0 Ovarian(185;0.112)|all_lung(157;0.185) all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642) AGGGGTTCCCGCCTCTTTGTT 0.582 NA 7 24 1.07e-07 1.15e-07 1 0 VPS13D 55187 broad.mit.edu 37 1 12423152 12423152 + Missense_Mutation SNP A A T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr1:12423152A>T uc001atv.2 + 52 10438 c.10297A>T c.(10297-10299)ATT>TTT p.I3433F VPS13D_uc001atw.2_Missense_Mutation_p.I3408F|VPS13D_uc001atx.2_Missense_Mutation_p.I2620F NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13D isoform 1 3432 protein localization ovary(4)|pancreas(1) 5 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) CGAAGGTTACATTTCCACCCT 0.383 NA 82 204 0 0 0 0 KIAA0467 23334 broad.mit.edu 37 1 43908207 43908207 + Missense_Mutation SNP A A T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr1:43908207A>T uc001cjk.1 + 43 5834 c.5372A>T c.(5371-5373)CAT>CTT p.H1791L NM_015284 NP_056099 Q5T011 SZT2_HUMAN hypothetical protein LOC23334 2690 peroxisome 0 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GCACGAGCCCATCTCATCTTC 0.587 NA 53 114 0 0 0 0 BEND5 79656 broad.mit.edu 37 1 49202065 49202065 + Silent SNP G G C TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr1:49202065G>C uc001crx.3 - 5 998 c.954C>G c.(952-954)ACC>ACG p.T318T AGBL4_uc001cru.2_Intron|AGBL4_uc010omw.1_Intron|AGBL4_uc010omx.1_Intron|AGBL4_uc001crv.1_Intron|AGBL4_uc010omy.1_Intron|BEND5_uc001crw.3_Silent_p.T149T NM_024603 NP_078879 Q7L4P6 BEND5_HUMAN BEN domain containing 5 318 BEN. skin(1) 1 AATCTCCTTGGGTTACTTGTA 0.468 NA 6 234 0 0 0 0 DIO1 1733 broad.mit.edu 37 1 54370406 54370406 + Silent SNP G G A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr1:54370406G>A uc010onx.1 + 3 428 c.405G>A c.(403-405)CAG>CAA p.Q135Q DIO1_uc010onw.1_Silent_p.Q71Q|DIO1_uc009vzl.2_Intron|DIO1_uc001cwb.2_Intron|DIO1_uc010ony.1_Silent_p.Q135Q|DIO1_uc001cwd.2_RNA|DIO1_uc001cwe.2_Intron|DIO1_uc001cwf.2_RNA|DIO1_uc001cwg.2_RNA NM_000792 NP_000783 P49895 IOD1_HUMAN deiodinase, iodothyronine, type I isoform a 135 hormone biosynthetic process|thyroid hormone generation endoplasmic reticulum membrane|integral to membrane|plasma membrane selenium binding|thyroxine 5'-deiodinase activity 0 AATTTGACCAGTTCAAGAGGC 0.393 NA 102 209 0 0 0 0 LPHN2 23266 broad.mit.edu 37 1 82436053 82436053 + Missense_Mutation SNP C C A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr1:82436053C>A uc001dit.3 + 15 2919 c.2738C>A c.(2737-2739)GCT>GAT p.A913D LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Missense_Mutation_p.A913D|LPHN2_uc001div.2_Missense_Mutation_p.A913D|LPHN2_uc009wcd.2_Missense_Mutation_p.A913D|LPHN2_uc001diw.2_Missense_Mutation_p.A497D|LPHN2_uc009wce.1_5'UTR NM_012302 NP_036434 O95490 LPHN2_HUMAN latrophilin 2 precursor 926 Helical; Name=3; (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding ovary(3)|lung(3)|breast(2)|central_nervous_system(1) 9 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) GCAGCTTTTGCTTGGATGTGC 0.358 NA 67 230 6.53e-41 7.42e-41 1 0 ARHGAP29 9411 broad.mit.edu 37 1 94645394 94645394 + Missense_Mutation SNP C C G TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr1:94645394C>G uc001dqj.3 - 20 2736 c.2367G>C c.(2365-2367)TGG>TGC p.W789C ARHGAP29_uc009wdq.1_RNA|ARHGAP29_uc001dqk.2_Missense_Mutation_p.W355C NM_004815 NP_004806 Q52LW3 RHG29_HUMAN PTPL1-associated RhoGAP 1 789 Rho-GAP. Rho protein signal transduction cytosol metal ion binding|Rho GTPase activator activity breast(4)|skin(3)|lung(2)|upper_aerodigestive_tract(1)|ovary(1) 11 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) ACATATTTGGCCATTTTTTGT 0.308 NA 30 123 0 0 0 0 ARHGAP29 9411 broad.mit.edu 37 1 94697030 94697030 + Silent SNP C C T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr1:94697030C>T uc001dqj.3 - 2 507 c.138G>A c.(136-138)AAG>AAA p.K46K ARHGAP29_uc009wdq.1_RNA|ARHGAP29_uc001dql.2_Silent_p.K46K NM_004815 NP_004806 Q52LW3 RHG29_HUMAN PTPL1-associated RhoGAP 1 46 Rho protein signal transduction cytosol metal ion binding|Rho GTPase activator activity breast(4)|skin(3)|lung(2)|upper_aerodigestive_tract(1)|ovary(1) 11 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) TCACCAACTCCTTGATGTAAT 0.388 NA 58 107 0 0 0 0 CELSR2 1952 broad.mit.edu 37 1 109795731 109795731 + Silent SNP C C T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr1:109795731C>T uc001dxa.3 + 1 3091 c.3030C>T c.(3028-3030)CAC>CAT p.H1010H NM_001408 NP_001399 Q9HCU4 CELR2_HUMAN cadherin EGF LAG seven-pass G-type receptor 2 1010 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) CTACAGTCCACGTCCGCCTCC 0.577 NA 22 112 0 0 0 0 SPAG17 200162 broad.mit.edu 37 1 118640342 118640342 + Missense_Mutation SNP A A T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr1:118640342A>T uc001ehk.2 - 7 1030 c.962T>A c.(961-963)ATG>AAG p.M321K NM_206996 NP_996879 Q6Q759 SPG17_HUMAN sperm associated antigen 17 321 cilium|flagellar axoneme|microtubule upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1) 6 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) TGCTTTGACCATGTACTCAAG 0.408 NA 33 75 0 0 0 0 NOTCH2NL 388677 broad.mit.edu 37 1 145290477 145290477 + Nonsense_Mutation SNP C C G TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr1:145290477C>G uc001emo.2 + 5 1053 c.683C>G c.(682-684)TCA>TGA p.S228* NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_Intron|NOTCH2NL_uc010oyh.1_RNA|NBPF10_uc001end.3_5'Flank|NBPF10_uc001emq.1_5'Flank NM_203458 NP_982283 Q7Z3S9 NT2NL_HUMAN Notch homolog 2 N-terminal like protein Error:Variant_position_missing_in_Q7Z3S9_after_alignment cell differentiation|multicellular organismal development|Notch signaling pathway cytoplasm|extracellular region calcium ion binding ovary(1) 1 GAAAAGGAATCATACTGCTAA 0.368 NA 13 447 0 0 0 0 BCL9 607 broad.mit.edu 37 1 147086390 147086390 + Missense_Mutation SNP G G A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr1:147086390G>A uc001epq.2 + 6 1275 c.535G>A c.(535-537)GTG>ATG p.V179M BCL9_uc010ozr.1_Missense_Mutation_p.V105M NM_004326 NP_004317 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 179 Wnt receptor signaling pathway nucleus protein binding ovary(2)|large_intestine(2)|breast(1)|skin(1) 6 all_hematologic(923;0.115) AGTGGTGTACGTGTTTTCTAC 0.507 NA T IGH@|IGL@ B-ALL 13 52 0 0 0 0 ECM1 1893 broad.mit.edu 37 1 150483454 150483454 + Missense_Mutation SNP G G A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr1:150483454G>A uc001eus.2 + 6 687 c.488G>A c.(487-489)CGG>CAG p.R163Q ECM1_uc010pce.1_Missense_Mutation_p.R92Q|ECM1_uc010pcf.1_Missense_Mutation_p.R85Q|ECM1_uc001eut.2_Missense_Mutation_p.R163Q|ECM1_uc001euu.2_Missense_Mutation_p.R192Q|ECM1_uc001euv.2_Missense_Mutation_p.R190Q|ECM1_uc009wlu.2_5'UTR NM_004425 NP_004416 Q16610 ECM1_HUMAN extracellular matrix protein 1 isoform 1 163 2 X approximate repeats.|1. angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade proteinaceous extracellular matrix laminin binding|protease binding|protein C-terminus binding|signal transducer activity ovary(2)|central_nervous_system(1) 3 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-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;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) TGGGGCCACCGGCTGGATGGC 0.607 NA 125 189 0 0 0 0 SETDB1 9869 broad.mit.edu 37 1 150935566 150935566 + Missense_Mutation SNP A A G TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr1:150935566A>G uc001evu.2 + 19 3598 c.3408A>G c.(3406-3408)ATA>ATG p.I1136M SETDB1_uc001evv.2_Missense_Mutation_p.I1136M|SETDB1_uc009wmg.1_Missense_Mutation_p.I1136M NM_001145415 NP_001138887 Q15047 SETB1_HUMAN SET domain, bifurcated 1 isoform 1 1136 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|Golgi apparatus|nucleus|plasma membrane DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding ovary(2)|upper_aerodigestive_tract(1) 3 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211) TCCAGACCATATCCTCTGGCT 0.498 NA 26 82 0 0 0 0 DCST2 127579 broad.mit.edu 37 1 155004226 155004226 + Nonsense_Mutation SNP C C T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr1:155004226C>T uc001fgm.2 - 4 643 c.563G>A c.(562-564)TGG>TAG p.W188* DCST2_uc009wpb.2_RNA|DCST1_uc010per.1_5'Flank|DCST1_uc001fgn.1_5'Flank|DCST1_uc010pes.1_5'Flank NM_144622 NP_653223 Q5T1A1 DCST2_HUMAN DC-STAMP domain containing 2 188 Cytoplasmic (Potential). integral to membrane ovary(2)|central_nervous_system(1) 3 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) GAGCCACTGCCACACATTCCG 0.582 NA 6 19 0 0 0 0 OR10X1 128367 broad.mit.edu 37 1 158549182 158549182 + Missense_Mutation SNP A A G TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr1:158549182A>G uc010pin.1 - 1 508 c.508T>C c.(508-510)TTT>CTT p.F170L NM_001004477 NP_001004477 Q8NGY0 O10X1_HUMAN olfactory receptor, family 10, subfamily X, 170 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) AGAGAGATAAAGAAGCCTGCA 0.468 NA 26 64 0 0 0 0 TOR1AIP2 163590 broad.mit.edu 37 1 179815800 179815800 + Silent SNP C C T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr1:179815800C>T uc001gnk.2 - 6 1207 c.819G>A c.(817-819)CTG>CTA p.L273L TOR1AIP2_uc001gnl.2_Silent_p.L273L NM_145034 NP_659471 Q8NFQ8 TOIP2_HUMAN torsin A interacting protein 2 273 endoplasmic reticulum membrane|integral to membrane protein binding ovary(1) 1 CTCTCTGCCACAGGAAGGAAC 0.522 NA 28 139 0 0 0 0 XPR1 9213 broad.mit.edu 37 1 180805685 180805685 + Missense_Mutation SNP A A G TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr1:180805685A>G uc001goi.2 + 11 1526 c.1334A>G c.(1333-1335)TAT>TGT p.Y445C XPR1_uc009wxm.2_Missense_Mutation_p.Y445C|XPR1_uc009wxn.2_Intron NM_004736 NP_004727 Q9UBH6 XPR1_HUMAN xenotropic and polytropic retrovirus receptor 445 Cytoplasmic (Potential).|EXS. integral to plasma membrane G-protein coupled receptor activity 0 AAATATACATATGGTGTGCGG 0.403 NA 35 91 0 0 0 0 ZBTB41 360023 broad.mit.edu 37 1 197145781 197145781 + Missense_Mutation SNP G G A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr1:197145781G>A uc001gtx.1 - 7 1861 c.1792C>T c.(1792-1794)CAT>TAT p.H598Y ZBTB41_uc009wyz.1_RNA NM_194314 NP_919290 Q5SVQ8 ZBT41_HUMAN zinc finger and BTB domain containing 41 598 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 TTATCATCATGATGTACTCGT 0.299 NA 38 127 0 0 0 0 FMN2 56776 broad.mit.edu 37 1 240493929 240493929 + Missense_Mutation SNP G G A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr1:240493929G>A uc010pyd.1 + 11 4689 c.4464G>A c.(4462-4464)ATG>ATA p.M1488I FMN2_uc010pye.1_Missense_Mutation_p.M1492I|FMN2_uc010pyf.1_Missense_Mutation_p.M134I|FMN2_uc010pyg.1_Missense_Mutation_p.M84I NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 1488 FH2. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CAGGGGTTATGCAGGTTCTAG 0.388 NA 27 106 0 0 0 0 AKT3 10000 broad.mit.edu 37 1 243716166 243716166 + Missense_Mutation SNP C C A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr1:243716166C>A uc001iab.1 - 10 1109 c.1028G>T c.(1027-1029)AGG>ATG p.R343M AKT3_uc001hzz.1_Missense_Mutation_p.R343M NM_005465 NP_005456 Q9Y243 AKT3_HUMAN AKT3 kinase isoform 1 343 Protein kinase. signal transduction Golgi apparatus|nucleus|plasma membrane ATP binding|protein binding|protein serine/threonine kinase activity stomach(1)|lung(1)|breast(1)|central_nervous_system(1) 4 all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168) all_cancers(173;0.0274) all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196) GAAAGGTAACCTCCCACACAT 0.383 NA 49 275 1.11e-26 1.25e-26 1 0 KIF5B 3799 broad.mit.edu 37 10 32326241 32326241 + Missense_Mutation SNP G G C TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr10:32326241G>C uc001iwe.3 - 8 1122 c.652C>G c.(652-654)CAA>GAA p.Q218E NM_004521 NP_004512 P33176 KINH_HUMAN kinesin family member 5B 218 Kinesin-motor. stress granule disassembly|vesicle transport along microtubule kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle ATP binding|microtubule binding|microtubule motor activity KIF5B/ALK(4) lung(4)|ovary(1) 5 Prostate(175;0.0137) TGTTCCGTTTGTGTGTTCTCT 0.313 NA 10 120 0 0 0 0 PTEN 5728 broad.mit.edu 37 10 89711893 89711893 + Nonsense_Mutation SNP C C T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr10:89711893C>T uc001kfb.2 + 7 1542 c.511C>T c.(511-513)CAG>TAG p.Q171* NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 171 Phosphatase tensin-type. Q->A,E: 75% reduction in phosphatase activity towards PtdIns(3,4,5)P3. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.Q171*(9)|p.R55fs*1(4)|p.V166fs*17(3)|p.?(3)|p.G165fs*9(3)|p.Y27_N212>Y(2)|p.Q171P(2)|p.Y27fs*1(2)|p.Q171E(2)|p.V166fs*10(1)|p.G165_K342del(1)|p.G165_*404del(1)|p.Q171H(1)|p.S170fs*8(1) endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1) 2334 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) TATTCCCAGTCAGAGGCGCTA 0.353 31 D|Mis|N|F|S glioma| prostate|endometrial harmartoma|glioma| prostate|endometrial Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 70 105 0 0 0 0 TIAL1 7073 broad.mit.edu 37 10 121336662 121336662 + Missense_Mutation SNP G G A rs148932828 byFrequency TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr10:121336662G>A uc001lei.1 - 10 1355 c.791C>T c.(790-792)ACG>ATG p.T264M TIAL1_uc001leh.1_Missense_Mutation_p.T242M|TIAL1_uc001lej.1_Missense_Mutation_p.T281M|TIAL1_uc001lek.1_Missense_Mutation_p.T141M|TIAL1_uc009xzi.1_Missense_Mutation_p.T133M|TIAL1_uc010qtb.1_Missense_Mutation_p.T141M NM_003252 NP_003243 Q01085 TIAR_HUMAN TIA-1 related protein isoform 1 264 RRM 3. apoptosis|defense response|induction of apoptosis|regulation of transcription from RNA polymerase II promoter lysosome|nucleus|stress granule nucleotide binding|RNA binding ovary(1) 1 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932) TCCTTCAATCGTAGTACCGTT 0.348 NA 36 34 0 0 0 0 LRRC27 80313 broad.mit.edu 37 10 134188714 134188714 + Missense_Mutation SNP G G A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr10:134188714G>A uc010quw.1 + 11 1756 c.1561G>A c.(1561-1563)GGA>AGA p.G521R LRRC27_uc001llg.2_RNA|LRRC27_uc001lli.2_Missense_Mutation_p.G521R|LRRC27_uc001llj.2_Missense_Mutation_p.G459R NM_030626 NP_085129 Q9C0I9 LRC27_HUMAN leucine rich repeat containing 27 isoform a 521 ovary(1) 1 all_cancers(35;6.28e-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;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218) CACAAAATATGGAGAATCAGG 0.522 NA 20 25 0 0 0 0 PKP3 11187 broad.mit.edu 37 11 404005 404005 + Missense_Mutation SNP C C T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr11:404005C>T uc001lpc.2 + 11 2216 c.2140C>T c.(2140-2142)CCA>TCA p.P714S NM_007183 NP_009114 Q9Y446 PKP3_HUMAN plakophilin 3 714 ARM 8. cell adhesion desmosome|nucleus binding skin(1) 1 all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) GAAGTCGCCCCCAGCCGAGGT 0.627 NA 24 70 0 0 0 0 MUC5B 727897 broad.mit.edu 37 11 1155707 1155707 + Missense_Mutation SNP C C T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr11:1155707C>T uc009ycr.1 + 5 521 c.395C>T c.(394-396)ACG>ATG p.T132M NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GCGGCCCCCACGCTGAGCAGG 0.632 NA 13 28 0 0 0 0 OR51B2 79345 broad.mit.edu 37 11 5344959 5344959 + Missense_Mutation SNP A A C TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr11:5344959A>C uc001mao.1 - 1 624 c.569T>G c.(568-570)ATA>AGA p.I190R HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron NM_033180 NP_149420 Q9Y5P1 O51B2_HUMAN olfactory receptor, family 51, subfamily B, 190 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ATTGAAAGTTATGTCAGCACA 0.353 NA 25 48 0 0 0 0 OR56A3 390083 broad.mit.edu 37 11 5969347 5969347 + Silent SNP C C T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr11:5969347C>T uc010qzt.1 + 1 771 c.771C>T c.(769-771)ACC>ACT p.T257T NM_001003443 NP_001003443 Q8NH54 O56A3_HUMAN olfactory receptor, family 56, subfamily A, 257 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCTTCAGCACCATCCTTCTGG 0.527 NA 65 227 0 0 0 0 PAX6 5080 broad.mit.edu 37 11 31816281 31816281 + Silent SNP G G A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr11:31816281G>A uc001mtd.3 - 7 1469 c.579C>T c.(577-579)AAC>AAT p.N193N PAX6_uc001mte.3_Silent_p.N193N|PAX6_uc001mtg.3_Silent_p.N207N|PAX6_uc001mtf.3_Silent_p.N193N|PAX6_uc001mth.3_Silent_p.N193N|PAX6_uc009yjr.2_Silent_p.N193N NM_001127612 NP_001121084 P26367 PAX6_HUMAN paired box gene 6 isoform a 193 Gln/Gly-rich. blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception cytoplasm|nuclear chromatin R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity lung(4)|ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 9 Lung SC(675;0.225) AATCTTCTCCGTTGGAACTGA 0.453 NA Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation 34 101 0 0 0 0 OR4C46 119749 broad.mit.edu 37 11 51515476 51515476 + Silent SNP C C T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr11:51515476C>T uc010ric.1 + 1 195 c.195C>T c.(193-195)TCC>TCT p.S65S NM_001004703 NP_001004703 A6NHA9 O4C46_HUMAN olfactory receptor, family 4, subfamily C, 65 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 CCTATCTCTCCTTTATTGATG 0.478 NA 87 287 0 0 0 0 RTN4RL2 349667 broad.mit.edu 37 11 57243919 57243919 + Missense_Mutation SNP C C G TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr11:57243919C>G uc010rjt.1 + 3 798 c.798C>G c.(796-798)GAC>GAG p.D266E NM_178570 NP_848665 Q86UN3 R4RL2_HUMAN reticulon 4 receptor-like 2 precursor 266 LRRCT. axon regeneration anchored to plasma membrane receptor activity 0 GGGCGTGCGACTGCCGCGCGC 0.741 NA 4 17 0 0 0 0 KDM2A 22992 broad.mit.edu 37 11 66985219 66985219 + Silent SNP C C T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr11:66985219C>T uc001ojw.2 + 9 1569 c.705C>T c.(703-705)CCC>CCT p.P235P KDM2A_uc001ojx.2_RNA|KDM2A_uc001ojy.2_Intron NM_012308 NP_036440 Q9Y2K7 KDM2A_HUMAN F-box and leucine-rich repeat protein 11 235 JmjC. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding ovary(4)|lung(3)|breast(1)|skin(1) 9 GGCTCATCCCCCCTACAGCCC 0.483 NA 5 39 0 0 0 0 ANO1 55107 broad.mit.edu 37 11 70028647 70028647 + Silent SNP C C T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr11:70028647C>T uc001opj.2 + 24 2748 c.2443C>T c.(2443-2445)CTG>TTG p.L815L ANO1_uc001opl.1_RNA|ANO1_uc010rqk.1_Silent_p.L524L|ANO1_uc010rql.1_5'UTR NM_018043 NP_060513 Q5XXA6 ANO1_HUMAN anoctamin 1, calcium activated chloride channel 815 Extracellular (Potential). multicellular organismal development chloride channel complex|cytoplasm|plasma membrane intracellular calcium activated chloride channel activity ovary(1)|pancreas(1) 2 CATCCCGCGCCTGGTGTACCT 0.617 NA 23 322 0 0 0 0 STARD10 10809 broad.mit.edu 37 11 72468875 72468875 + Missense_Mutation SNP G G A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr11:72468875G>A uc001osy.2 - 5 805 c.514C>T c.(514-516)CTC>TTC p.L172F ARAP1_uc001osv.2_Intron|STARD10_uc001osz.3_Missense_Mutation_p.L172F|STARD10_uc001ota.2_Missense_Mutation_p.L126F|STARD10_uc001otb.2_Missense_Mutation_p.L172F NM_006645 NP_006636 Q9Y365 PCTL_HUMAN START domain containing 10 172 START. 0 BRCA - Breast invasive adenocarcinoma(5;7.08e-07) CTCTGGATGAGGTAGCCCGTC 0.612 NA 35 47 0 0 0 0 KDM4DL 390245 broad.mit.edu 37 11 94759470 94759470 + Missense_Mutation SNP T T C TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr11:94759470T>C uc010ruf.1 + 1 1049 c.749T>C c.(748-750)GTT>GCT p.V250A NM_001161630 NP_001155102 B2RXH2 KD4DL_HUMAN lysine (K)-specific demethylase 4D-like 250 JmjC. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 TCGCCTACAGTTCTCAAGGAA 0.567 NA 16 19 0 0 0 0 SLC6A12 6539 broad.mit.edu 37 12 301770 301770 + Silent SNP G G A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr12:301770G>A uc001qhz.2 - 16 2118 c.1575C>T c.(1573-1575)TAC>TAT p.Y525Y SLC6A12_uc001qhx.2_Silent_p.Y182Y|SLC6A12_uc001qhy.2_Silent_p.Y81Y|SLC6A12_uc001qia.2_Silent_p.Y525Y|SLC6A12_uc001qib.2_Silent_p.Y525Y|SLC6A12_uc009zdh.1_Silent_p.Y525Y NM_003044 NP_003035 P48065 S6A12_HUMAN solute carrier family 6 (neurotransmitter 525 cellular nitrogen compound metabolic process|neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity ovary(1) 1 all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00227) AGACGTTGTTGTACTTGAGGG 0.572 NA 41 110 0 0 0 0 CHD4 1108 broad.mit.edu 37 12 6690898 6690898 + Missense_Mutation SNP G G A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr12:6690898G>A uc001qpo.2 - 31 4762 c.4598C>T c.(4597-4599)CCA>CTA p.P1533L CHD4_uc001qpn.2_Missense_Mutation_p.P1526L|CHD4_uc001qpp.2_Missense_Mutation_p.P1558L|uc001qpq.1_Intron|SCARNA11_uc001qpr.1_5'Flank NM_001273 NP_001264 Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 1533 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 GGGTGACCCTGGCTGGGACAT 0.562 NA 66 154 0 0 0 0 FAM90A1 55138 broad.mit.edu 37 12 8376719 8376719 + Missense_Mutation SNP G G C TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr12:8376719G>C uc001qui.2 - 5 775 c.216C>G c.(214-216)AAC>AAG p.N72K FAM90A1_uc001quh.2_Missense_Mutation_p.N72K NM_018088 NP_060558 Q86YD7 F90A1_HUMAN hypothetical protein LOC55138 72 nucleic acid binding|zinc ion binding ovary(1) 1 Kidney(36;0.0866) TTTCCCCAAAGTTCGGTGGAA 0.547 NA 79 164 0 0 0 0 PRB1 5542 broad.mit.edu 37 12 11506685 11506685 + Missense_Mutation SNP G G C TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr12:11506685G>C uc001qzw.1 - 3 389 c.352C>G c.(352-354)CCA>GCA p.P118A PRB1_uc001qzu.1_Intron|PRB1_uc001qzv.1_Intron NM_005039 NP_005030 P04280 PRP1_HUMAN proline-rich protein BstNI subfamily 1 isoform 1 179 7.|15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR]. Missing (in clone CP-4).|Missing (in clone CP-5).|Missing (in allele S). extracellular region 0 OV - Ovarian serous cystadenocarcinoma(49;0.185) GGTCCTTGTGGCTTTCCTGGA 0.612 NA 55 762 0 0 0 0 MLL2 8085 broad.mit.edu 37 12 49420409 49420409 + Missense_Mutation SNP G G A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr12:49420409G>A uc001rta.3 - 48 15340 c.15340C>T c.(15340-15342)CAT>TAT p.H5114Y NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 5114 RING-type 4; degenerate. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 CAAGCAAAATGGTAGACATTG 0.557 NA N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 35 90 0 0 0 0 PRPF40B 25766 broad.mit.edu 37 12 50037938 50037938 + Missense_Mutation SNP G G A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr12:50037938G>A uc001rur.1 + 25 2643 c.2579G>A c.(2578-2580)CGG>CAG p.R860Q FMNL3_uc001ruv.1_3'UTR|FMNL3_uc001ruw.1_3'UTR|PRPF40B_uc001ruq.1_Missense_Mutation_p.R847Q|PRPF40B_uc001rus.1_Missense_Mutation_p.R802Q|FMNL3_uc001rut.1_3'UTR|FMNL3_uc001ruu.1_3'UTR NM_001031698 NP_001026868 Q6NWY9 PR40B_HUMAN Huntingtin interacting protein C isoform 1 860 mRNA processing|RNA splicing nuclear speck skin(2)|ovary(1)|pancreas(1)|kidney(1) 5 GAGAGGCGGCGGCGGACACTC 0.607 NA OREG0021798 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 62 0 0 0 0 GNPTAB 79158 broad.mit.edu 37 12 102151077 102151077 + Missense_Mutation SNP A A G TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr12:102151077A>G uc001tit.2 - 18 3526 c.3347T>C c.(3346-3348)ATG>ACG p.M1116T NM_024312 NP_077288 Q3T906 GNPTA_HUMAN N-acetylglucosamine-1-phosphate transferase 1116 cell differentiation Golgi membrane|integral to membrane|nucleus metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity ovary(1)|skin(1) 2 TTCTTCTCCCATGATTTCAAA 0.284 NA 7 45 0 0 0 0 DRAM1 55332 broad.mit.edu 37 12 102295157 102295157 + Silent SNP T T C TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr12:102295157T>C uc001tix.2 + 3 751 c.288T>C c.(286-288)TCT>TCC p.S96S DRAM1_uc010svv.1_Silent_p.S96S NM_018370 NP_060840 Q8N682 DRAM1_HUMAN DNA-damage regulated autophagy modulator 1 96 Helical; (Potential). apoptosis|autophagy integral to membrane|lysosomal membrane ovary(1) 1 ACTTGGTGTCTTTAGTGCTTG 0.408 NA 23 85 0 0 0 0 RAD9B 144715 broad.mit.edu 37 12 110968353 110968353 + Silent SNP A A G TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr12:110968353A>G uc001trf.3 + 11 1287 c.1149A>G c.(1147-1149)GCA>GCG p.A383A RAD9B_uc001trg.3_Silent_p.A383A|RAD9B_uc010sya.1_Intron|RAD9B_uc001tre.3_Silent_p.A311A|RAD9B_uc001trd.3_Silent_p.A225A NM_152442 NP_689655 Q6WBX8 RAD9B_HUMAN RAD9 homolog B 380 cell cycle checkpoint|DNA repair|DNA replication nucleoplasm protein binding pancreas(1)|skin(1) 2 TCTTTGGAGCAGTTTCTTCTG 0.433 NA 36 127 0 0 0 0 SFRS8 6433 broad.mit.edu 37 12 132237706 132237706 + Missense_Mutation SNP C C T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr12:132237706C>T uc001uja.1 + 8 1260 c.1120C>T c.(1120-1122)CCG>TCG p.P374S SFRS8_uc010tbn.1_Missense_Mutation_p.P374S|SFRS8_uc001ujb.1_Missense_Mutation_p.P167S|SFRS8_uc001uiz.1_Missense_Mutation_p.P248S NM_004592 NP_004583 Q12872 SFSWA_HUMAN splicing factor, arginine/serine-rich 8 374 mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|RNA binding 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.44e-07)|Epithelial(86;2.94e-06)|all cancers(50;4.82e-05) CTACATGCTACCGGACGGCAC 0.612 NA 56 119 0 0 0 0 ZMYM2 7750 broad.mit.edu 37 13 20656229 20656229 + Missense_Mutation SNP A A G TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr13:20656229A>G uc001umr.2 + 23 3825 c.3527A>G c.(3526-3528)AAT>AGT p.N1176S ZMYM2_uc001ums.2_Missense_Mutation_p.N1176S|ZMYM2_uc001umt.2_Missense_Mutation_p.N1176S|ZMYM2_uc001umv.2_Missense_Mutation_p.N556S|ZMYM2_uc001umw.2_Missense_Mutation_p.N629S NM_003453 NP_003444 Q9UBW7 ZMYM2_HUMAN zinc finger protein 198 1176 regulation of transcription, DNA-dependent|transcription, DNA-dependent PML body ubiquitin conjugating enzyme binding|zinc ion binding lung(3)|ovary(2)|prostate(1) 6 all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856) CAAGAATTGAATAAAATACTG 0.328 NA 16 15 0 0 0 0 KATNAL1 84056 broad.mit.edu 37 13 30801627 30801627 + Missense_Mutation SNP C C T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr13:30801627C>T uc001uss.2 - 9 1170 c.1069G>A c.(1069-1071)GCT>ACT p.A357T KATNAL1_uc001ust.2_Missense_Mutation_p.A357T NM_001014380 NP_001014402 Q9BW62 KATL1_HUMAN katanin p60 subunit A-like 1 357 cytoplasm|microtubule ATP binding|microtubule-severing ATPase activity 0 Lung SC(185;0.0257) all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213) AAATTAGTAGCAGCCAATACC 0.378 NA 20 43 0 0 0 0 KLHL1 57626 broad.mit.edu 37 13 70535475 70535475 + Missense_Mutation SNP T T A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr13:70535475T>A uc001vip.2 - 3 1576 c.782A>T c.(781-783)AAT>ATT p.N261I KLHL1_uc010thm.1_Missense_Mutation_p.N200I NM_020866 NP_065917 Q9NR64 KLHL1_HUMAN kelch-like 1 protein 261 BTB. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding 0 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) CCAGAGAGCATTGGGGTCTAT 0.383 NA 44 55 0 0 0 0 SUPT16H 11198 broad.mit.edu 37 14 21831284 21831284 + Nonsense_Mutation SNP G G A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr14:21831284G>A uc001wao.2 - 13 1759 c.1420C>T c.(1420-1422)CGA>TGA p.R474* NM_007192 NP_009123 Q9Y5B9 SP16H_HUMAN chromatin-specific transcription elongation 474 Potential. 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) TGTGCTCTTCGCTTCTCTTCT 0.398 NA 58 171 0 0 0 0 MYH7 4625 broad.mit.edu 37 14 23884668 23884668 + Silent SNP G G A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr14:23884668G>A uc001wjx.2 - 36 5311 c.5205C>T c.(5203-5205)TCC>TCT p.S1735S NM_000257 NP_000248 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1735 Potential. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(3)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) TCTGGAGCTGGGACAGGTCAG 0.557 NA 46 125 0 0 0 0 GPR137C 283554 broad.mit.edu 37 14 53098999 53098999 + Missense_Mutation SNP A A C TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr14:53098999A>C uc001wzu.3 + 4 839 c.839A>C c.(838-840)AAT>ACT p.N280T GPR137C_uc001wzt.3_Missense_Mutation_p.N296T NM_001099652 NP_001093122 Q8N3F9 G137C_HUMAN G protein-coupled receptor 137C 280 Extracellular (Potential). integral to membrane 0 Breast(41;0.0716) AGTCCATTTAATTATGGCTGG 0.388 NA 30 69 0 0 0 0 PLEKHH1 57475 broad.mit.edu 37 14 68008608 68008608 + Silent SNP G G A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr14:68008608G>A uc001xjl.1 + 2 166 c.24G>A c.(22-24)GCG>GCA p.A8A NM_020715 NP_065766 Q9ULM0 PKHH1_HUMAN pleckstrin homology domain containing, family H 8 cytoskeleton binding 0 all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011) AGGTGGAGGCGCCGGCCAGCG 0.537 NA 3 10 0 0 0 0 ZFYVE26 23503 broad.mit.edu 37 14 68249583 68249583 + Missense_Mutation SNP G G A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr14:68249583G>A uc001xka.2 - 21 4425 c.4286C>T c.(4285-4287)GCC>GTC p.A1429V ZFYVE26_uc010tsz.1_Intron|ZFYVE26_uc001xkc.3_Missense_Mutation_p.A1429V NM_015346 NP_056161 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 1429 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding ovary(9)|breast(2) 11 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) GAGCTGAAGGGCCCGGGACCA 0.532 NA 80 226 0 0 0 0 C14orf169 79697 broad.mit.edu 37 14 73957815 73957815 + Silent SNP C C T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr14:73957815C>T uc001xok.1 + 1 172 c.93C>T c.(91-93)GCC>GCT p.A31A HEATR4_uc010tua.1_Intron NM_024644 NP_078920 Q9H6W3 NO66_HUMAN chromosome 14 open reading frame 169 31 negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|nucleoplasm histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K4 specific)|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.215) CGGTCCTGGCCCTGCCCTTGA 0.677 NA 15 27 0 0 0 0 PNMA1 9240 broad.mit.edu 37 14 74179621 74179621 + Missense_Mutation SNP T T C TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr14:74179621T>C uc001xor.1 - 1 1508 c.722A>G c.(721-723)GAG>GGG p.E241G NM_006029 NP_006020 Q8ND90 PNMA1_HUMAN paraneoplastic antigen MA1 241 apoptosis|central nervous system development|inflammatory response to antigenic stimulus|spermatogenesis cytoplasm|focal adhesion|nucleolus protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797) cctagagctctcaacgctccc 0 NA 41 115 0 0 0 0 RPS6KA5 9252 broad.mit.edu 37 14 91338426 91338426 + Missense_Mutation SNP C C T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr14:91338426C>T uc001xys.2 - 17 2616 c.2401G>A c.(2401-2403)GTA>ATA p.V801I RPS6KA5_uc010twi.1_Missense_Mutation_p.V722I NM_004755 NP_004746 O75582 KS6A5_HUMAN ribosomal protein S6 kinase, polypeptide 5 801 VA -> ELRHGRSDQ (in Ref. 3; AAC69577). axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytoplasm|nucleoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity ovary(1) 1 all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146) Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201) GCCTAAGCTACTGAGTCCGAG 0.483 NA 54 128 0 0 0 0 C15orf2 23742 broad.mit.edu 37 15 24921512 24921512 + Silent SNP G G A rs35737140 byFrequency TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr15:24921512G>A uc001ywo.2 + 1 972 c.498G>A c.(496-498)CCG>CCA p.P166P NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 166 cell differentiation|multicellular organismal development|spermatogenesis p.P166P(1) ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 8 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) ATGAGGATCCGGTGCAGATCG 0.627 NA 3 74 0 0 0 0 C15orf2 23742 broad.mit.edu 37 15 24922597 24922597 + Missense_Mutation SNP C C T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr15:24922597C>T uc001ywo.2 + 1 2057 c.1583C>T c.(1582-1584)TCC>TTC p.S528F NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 528 Pro-rich. cell differentiation|multicellular organismal development|spermatogenesis ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 8 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) CCTCCTCTTTCCTTCCTGACT 0.532 NA 99 293 0 0 0 0 MNS1 55329 broad.mit.edu 37 15 56748614 56748614 + Missense_Mutation SNP T T C TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr15:56748614T>C uc002adr.2 - 3 496 c.331A>G c.(331-333)AGG>GGG p.R111G MNS1_uc010bfo.2_5'UTR NM_018365 NP_060835 Q8NEH6 MNS1_HUMAN meiosis-specific nuclear structural 1 111 Potential.|Glu-rich. meiosis ovary(1) 1 all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101) ACTTGTTGCCTCATCTTTTCG 0.333 NA 3 95 0 0 0 0 MAPK8IP3 23162 broad.mit.edu 37 16 1812698 1812698 + Missense_Mutation SNP G G A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr16:1812698G>A uc002cmk.2 + 15 1810 c.1690G>A c.(1690-1692)GTC>ATC p.V564I MAPK8IP3_uc002cml.2_Missense_Mutation_p.V558I|MAPK8IP3_uc010uvl.1_Missense_Mutation_p.V565I NM_015133 NP_055948 Q9UPT6 JIP3_HUMAN mitogen-activated protein kinase 8 interacting 564 vesicle-mediated transport Golgi membrane kinesin binding|MAP-kinase scaffold activity|protein kinase binding breast(2)|central_nervous_system(1) 3 GCACCCATCCGTCCAGGAGAA 0.662 NA 81 165 0 0 0 0 CREBBP 1387 broad.mit.edu 37 16 3786099 3786099 + Missense_Mutation SNP G G C TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr16:3786099G>C uc002cvv.2 - 28 4870 c.4666C>G c.(4666-4668)CTA>GTA p.L1556V CREBBP_uc002cvw.2_Missense_Mutation_p.L1518V NM_004380 NP_004371 Q92793 CBP_HUMAN CREB binding protein isoform a 1556 Poly-Glu.|Interaction with TRERF1. cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1) 127 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) TCTTGTTCTAGTTCCTTAATG 0.478 NA T|N|F|Mis|O MLL|MORF|RUNXBP2 ALL|AML|DLBCL|B-NHL Rubinstein-Taybi syndrome Rubinstein-Taybi_syndrome 50 107 0 0 0 0 ANKS3 124401 broad.mit.edu 37 16 4747373 4747373 + Missense_Mutation SNP C C T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr16:4747373C>T uc002cxj.1 - 16 2150 c.1855G>A c.(1855-1857)GAG>AAG p.E619K ANKS3_uc010uxr.1_Missense_Mutation_p.E142K|ANKS3_uc002cxh.1_RNA|ANKS3_uc002cxi.1_Missense_Mutation_p.E546K|ANKS3_uc002cxk.2_Missense_Mutation_p.E490K|ANKS3_uc002cxl.2_Missense_Mutation_p.E446K|ANKS3_uc010uxs.1_Missense_Mutation_p.E546K NM_133450 NP_597707 Q6ZW76 ANKS3_HUMAN ankyrin repeat and sterile alpha motif domain 619 0 CCCGAGAGCTCGGGGAGGCTC 0.657 NA 48 119 0 0 0 0 SEPT12 124404 broad.mit.edu 37 16 4833975 4833975 + Missense_Mutation SNP G G A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr16:4833975G>A uc002cxq.2 - 5 610 c.469C>T c.(469-471)CGG>TGG p.R157W SEPT12_uc002cxr.2_Intron|SEPT12_uc010bty.2_RNA NM_144605 NP_653206 Q8IYM1 SEP12_HUMAN septin 12 isoform 2 157 cell cycle|cell division cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity skin(1) 1 CAGTGCACCCGGGTGTCTGGG 0.637 NA 49 133 0 0 0 0 ARHGAP17 55114 broad.mit.edu 37 16 24971270 24971270 + Missense_Mutation SNP T T G TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr16:24971270T>G uc002dnb.2 - 8 697 c.604A>C c.(604-606)ATG>CTG p.M202L ARHGAP17_uc002dna.2_5'Flank|ARHGAP17_uc002dnc.2_Missense_Mutation_p.M202L|ARHGAP17_uc010vcf.1_Missense_Mutation_p.M23L|ARHGAP17_uc002dnf.2_Missense_Mutation_p.M110L|ARHGAP17_uc002dng.1_Missense_Mutation_p.M202L NM_001006634 NP_001006635 Q68EM7 RHG17_HUMAN nadrin isoform 1 202 BAR. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|tight junction GTPase activator activity|SH3 domain binding 0 GBM - Glioblastoma multiforme(48;0.0407) TCTTTGGCCATAAAGTTGTAC 0.363 NA 35 106 0 0 0 0 E2F4 1874 broad.mit.edu 37 16 67228755 67228755 + Missense_Mutation SNP C C T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr16:67228755C>T uc002erz.2 + 6 743 c.680C>T c.(679-681)CCT>CTT p.P227L NM_001950 NP_001941 Q16254 E2F4_HUMAN E2F transcription factor 4 227 G1 phase of mitotic cell cycle transcription factor complex DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription factor binding central_nervous_system(1) 1 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325) ACACCTCCACCTCTGCCCAAG 0.597 NA 48 95 0 0 0 0 CDH1 999 broad.mit.edu 37 16 68853291 68853291 + Missense_Mutation SNP C C A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr16:68853291C>A uc002ewg.1 + 11 1798 c.1674C>A c.(1672-1674)AAC>AAA p.N558K CDH1_uc010vlj.1_Intron|CDH1_uc010cfg.1_Missense_Mutation_p.N497K NM_004360 NP_004351 P12830 CADH1_HUMAN cadherin 1, type 1 preproprotein 558 Extracellular (Potential).|Cadherin 4. adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm cell adhesion molecule binding|gamma-catenin binding breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1) 243 all_neural(199;0.0189)|Ovarian(137;0.0563) Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261) ACGTGAAGAACAGCACGTACA 0.537 NA Mis|N|F|S lobular breast|gastric gastric Hereditary_Diffuse_Gastric_Cancer 4 101 0.00909568 0.00931271 1 0 ZNF778 197320 broad.mit.edu 37 16 89293174 89293174 + Missense_Mutation SNP C C T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr16:89293174C>T uc002fmv.2 + 6 733 c.394C>T c.(394-396)CTC>TTC p.L132F ZNF778_uc010vpf.1_Intron|ZNF778_uc002fmw.1_Missense_Mutation_p.L90F|ZNF778_uc010vpg.1_5'UTR NM_182531 NP_872337 Q96MU6 ZN778_HUMAN zinc finger protein 778 132 C2H2-type 1; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 BRCA - Breast invasive adenocarcinoma(80;0.0269) ACACTCAGGCCTCAGCACACA 0.463 NA 15 37 0 0 0 0 NUP88 4927 broad.mit.edu 37 17 5312067 5312067 + Silent SNP G G A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr17:5312067G>A uc002gbo.1 - 5 869 c.843C>T c.(841-843)ATC>ATT p.I281I NUP88_uc010vsx.1_Silent_p.I281I|NUP88_uc010cle.1_Silent_p.I280I|NUP88_uc010vsy.1_Silent_p.I281I NM_002532 NP_002523 Q99567 NUP88_HUMAN nucleoporin 88kDa 281 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore transporter activity kidney(1) 1 GTAACAGACTGATGTATGTCA 0.438 NA 86 64 0 0 0 0 PHF23 79142 broad.mit.edu 37 17 7139299 7139299 + Missense_Mutation SNP G G A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr17:7139299G>A uc002gfa.2 - 4 1174 c.947C>T c.(946-948)TCC>TTC p.S316F DVL2_uc002gez.1_5'Flank|DVL2_uc010vtr.1_5'Flank|DVL2_uc010clz.1_5'Flank|PHF23_uc010vtt.1_Missense_Mutation_p.S249F|PHF23_uc010cma.2_Missense_Mutation_p.S186F NM_024297 NP_077273 Q9BUL5 PHF23_HUMAN PHD finger protein 23 316 zinc ion binding 0 GCCTTCACTGGAGCTGGCATC 0.587 NA 416 274 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7577507 7577507 + Missense_Mutation SNP T T A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr17:7577507T>A uc002gim.2 - 7 968 c.774A>T c.(772-774)GAA>GAT p.E258D TP53_uc002gig.1_Missense_Mutation_p.E258D|TP53_uc002gih.2_Missense_Mutation_p.E258D|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.E126D|TP53_uc010cng.1_Missense_Mutation_p.E126D|TP53_uc002gii.1_Missense_Mutation_p.E126D|TP53_uc010cnh.1_Missense_Mutation_p.E258D|TP53_uc010cni.1_Missense_Mutation_p.E258D|TP53_uc002gij.2_Missense_Mutation_p.E258D|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.E165D|TP53_uc002gio.2_Missense_Mutation_p.E126D NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 258 |Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). E -> Q (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> A (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> D (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.E258K(37)|p.E258*(12)|p.E258Q(8)|p.E258D(8)|p.0?(7)|p.E258G(7)|p.E258V(5)|p.E258A(5)|p.D259fs*5(1)|p.?(1)|p.E258fs*85(1)|p.E258>XX(1)|p.E258fs*71(1)|p.D259fs*86(1)|p.E258fs*2(1)|p.E258_S260delEDS(1)|p.E258del(1)|p.E258L(1)|p.E258fs*87(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) ACCTGGAGTCTTCCAGTGTGA 0.577 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 31 31 0 0 0 0 CNTROB 116840 broad.mit.edu 37 17 7836476 7836476 + Missense_Mutation SNP C C T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr17:7836476C>T uc002gjq.2 + 2 998 c.79C>T c.(79-81)CTC>TTC p.L27F TRAPPC1_uc002gjo.1_5'Flank|CNTROB_uc002gjp.2_Missense_Mutation_p.L27F|CNTROB_uc002gjr.2_5'Flank NM_053051 NP_444279 Q8N137 CNTRB_HUMAN centrobin, centrosomal BRCA2 interacting protein 27 centriole replication|centrosome separation|cytokinesis centriole protein domain specific binding breast(1)|central_nervous_system(1) 2 Prostate(122;0.173) ACCCCCTGGGCTCAACCAAGT 0.597 NA 163 127 0 0 0 0 STX8 9482 broad.mit.edu 37 17 9395196 9395196 + Missense_Mutation SNP C C T rs143935601 TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr17:9395196C>T uc002glx.2 - 6 641 c.491G>A c.(490-492)CGC>CAC p.R164H NM_004853 NP_004844 Q9UNK0 STX8_HUMAN syntaxin 8 164 t-SNARE coiled-coil homology.|Cytoplasmic (Potential). transport endoplasmic reticulum|integral to plasma membrane central_nervous_system(1) 1 TTGTTTTTGGCGACTTATGAT 0.363 NA 109 117 0 0 0 0 MYH4 4622 broad.mit.edu 37 17 10356164 10356164 + Missense_Mutation SNP G G A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr17:10356164G>A uc002gmn.2 - 25 3308 c.3197C>T c.(3196-3198)GCC>GTC p.A1066V uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN myosin, heavy polypeptide 4, skeletal muscle 1066 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(10)|skin(2)|central_nervous_system(1) 13 GGATTCTTGGGCCAATTTTAG 0.363 NA 143 145 0 0 0 0 MPP2 4355 broad.mit.edu 37 17 41958711 41958711 + Missense_Mutation SNP G G A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr17:41958711G>A uc010wip.1 - 8 1012 c.955C>T c.(955-957)CAT>TAT p.H319Y MPP2_uc002ien.1_Missense_Mutation_p.H291Y|MPP2_uc010wim.1_Missense_Mutation_p.H263Y|MPP2_uc002ieo.1_Missense_Mutation_p.H274Y|MPP2_uc010win.1_Missense_Mutation_p.H135Y|MPP2_uc010wio.1_Missense_Mutation_p.H263Y NM_005374 NP_005365 Q14168 MPP2_HUMAN palmitoylated membrane protein 2 298 SH3. signal transduction cell surface|integral to plasma membrane|membrane fraction guanylate kinase activity 0 Breast(137;0.00314) BRCA - Breast invasive adenocarcinoma(366;0.12) CCTTCGACATGGCATGCCTAA 0.597 NA OREG0024443 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 111 59 0 0 0 0 FTSJ3 117246 broad.mit.edu 37 17 61903471 61903471 + Missense_Mutation SNP G G A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr17:61903471G>A uc002jbz.2 - 4 323 c.245C>T c.(244-246)CCT>CTT p.P82L FTSJ3_uc002jca.2_Missense_Mutation_p.P82L|PSMC5_uc002jcb.2_5'Flank|PSMC5_uc010ddy.2_5'Flank|PSMC5_uc010ddz.2_5'Flank|PSMC5_uc002jcc.2_5'Flank|PSMC5_uc002jcd.2_5'Flank NM_017647 NP_060117 Q8IY81 RRMJ3_HUMAN FtsJ homolog 3 82 RNA methylation|rRNA processing nucleolus methyltransferase activity|nucleic acid binding ovary(1) 1 ATTGGGGAGAGGCTTGATTGG 0.468 NA 130 98 0 0 0 0 METRNL 284207 broad.mit.edu 37 17 81043036 81043036 + Silent SNP A A G TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr17:81043036A>G uc002kgh.2 + 2 518 c.393A>G c.(391-393)GTA>GTG p.V131V METRNL_uc002kgi.2_Silent_p.V49V NM_001004431 NP_001004431 Q641Q3 METRL_HUMAN meteorin, glial cell differentiation 131 extracellular region 0 Breast(20;0.000443)|all_neural(118;0.0779) BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868) GACTGCTGGTACCAGACGGGG 0.632 NA 72 42 0 0 0 0 CDH2 1000 broad.mit.edu 37 18 25585828 25585828 + Missense_Mutation SNP C C G TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr18:25585828C>G uc002kwg.2 - 6 1291 c.832G>C c.(832-834)GAG>CAG p.E278Q CDH2_uc010xbn.1_Missense_Mutation_p.E247Q NM_001792 NP_001783 P19022 CADH2_HUMAN cadherin 2, type 1 preproprotein 278 Extracellular (Potential).|Cadherin 2. adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding ovary(3)|lung(1) 4 TTTGATCCCTCAGGAACTGTC 0.388 NA 48 116 0 0 0 0 PIGN 23556 broad.mit.edu 37 18 59777191 59777191 + Silent SNP G G A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr18:59777191G>A uc002lii.3 - 18 1898 c.1450C>T c.(1450-1452)CTG>TTG p.L484L PIGN_uc002lij.3_Silent_p.L484L NM_176787 NP_789744 O95427 PIGN_HUMAN phosphatidylinositol glycan anchor biosynthesis, 484 Helical; (Potential). C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane phosphotransferase activity, for other substituted phosphate groups breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 5 Colorectal(73;0.187) CTACAAGGCAGGAGATGGCTT 0.343 NA 3 66 0 0 0 0 CDH19 28513 broad.mit.edu 37 18 64239355 64239355 + Missense_Mutation SNP C C G TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr18:64239355C>G uc002lkc.1 - 2 225 c.87G>C c.(85-87)AAG>AAC p.K29N CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_Missense_Mutation_p.K29N|CDH19_uc002lkd.2_Missense_Mutation_p.K29N NM_021153 NP_066976 Q9H159 CAD19_HUMAN cadherin 19, type 2 preproprotein 29 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1)|skin(1) 2 Esophageal squamous(42;0.0132) GCTTGACTTTCTTTGTTTGAG 0.428 NA 19 39 0 0 0 0 NETO1 81832 broad.mit.edu 37 18 70423379 70423379 + Missense_Mutation SNP G G T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr18:70423379G>T uc002lkw.2 - 8 1156 c.872C>A c.(871-873)CCT>CAT p.P291H NETO1_uc002lkx.1_Missense_Mutation_p.P290H|NETO1_uc002lky.1_Missense_Mutation_p.P291H NM_138966 NP_620416 Q8TDF5 NETO1_HUMAN neuropilin- and tolloid-like protein 1 isoform 3 291 LDL-receptor class A.|Extracellular (Potential). memory|regulation of long-term neuronal synaptic plasticity|visual learning cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane receptor activity ovary(2)|skin(2) 4 Esophageal squamous(42;0.129) READ - Rectum adenocarcinoma(1;0.0487) GCCTTCACAAGGAGCTAAAAA 0.333 NA 29 50 4.88e-14 5.41e-14 1 0 ZNF236 7776 broad.mit.edu 37 18 74631933 74631933 + Missense_Mutation SNP C C T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr18:74631933C>T uc002lmi.2 + 20 3668 c.3470C>T c.(3469-3471)GCG>GTG p.A1157V ZNF236_uc002lmj.2_RNA NM_007345 NP_031371 Q9UL36 ZN236_HUMAN zinc finger protein 236 1157 cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4) 4 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) GACAAGCAGGCGGAGCTGCAG 0.627 NA 13 24 0 0 0 0 TBXA2R 6915 broad.mit.edu 37 19 3600302 3600302 + Missense_Mutation SNP C C T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr19:3600302C>T uc002lyg.1 - 2 545 c.331G>A c.(331-333)GTC>ATC p.V111I TBXA2R_uc002lye.1_Missense_Mutation_p.V111I NM_001060 NP_001051 P21731 TA2R_HUMAN thromboxane A2 receptor isoform alpha 111 Helical; Name=3; (Potential). platelet activation integral to plasma membrane guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18) Ridogrel(DB01207) AAGATCATGACGACGCCCATG 0.692 NA 13 23 0 0 0 0 ACSBG2 81616 broad.mit.edu 37 19 6187796 6187796 + Nonsense_Mutation SNP C C T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr19:6187796C>T uc002mef.1 + 13 2094 c.1867C>T c.(1867-1869)CAG>TAG p.Q623* ACSBG2_uc002mee.1_Nonsense_Mutation_p.Q436*|ACSBG2_uc002meg.1_Nonsense_Mutation_p.Q623*|ACSBG2_uc002meh.1_Nonsense_Mutation_p.Q623*|ACSBG2_uc002mei.1_Nonsense_Mutation_p.Q573*|ACSBG2_uc010xiz.1_Nonsense_Mutation_p.Q595* NM_030924 NP_112186 Q5FVE4 ACBG2_HUMAN bubblegum-related acyl-CoA synthetase 2 623 cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis membrane|microsome|mitochondrion acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity ovary(1) 1 GAACAATGCACAGAGGATTGA 0.507 NA 54 159 0 0 0 0 ZNF266 10781 broad.mit.edu 37 19 9524051 9524051 + Missense_Mutation SNP T T C TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr19:9524051T>C uc002mll.2 - 4 1816 c.1550A>G c.(1549-1551)GAG>GGG p.E517G ZNF266_uc002mlm.2_Missense_Mutation_p.E517G|ZNF266_uc002mln.2_Missense_Mutation_p.E517G|ZNF266_uc002mlo.2_Missense_Mutation_p.E517G|ZNF266_uc010dwp.2_Missense_Mutation_p.E517G|ZNF266_uc010dwq.2_Missense_Mutation_p.E517G NM_198058 NP_932175 Q14584 ZN266_HUMAN zinc finger protein 266 517 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 ATAGGGTTTCTCTCCAGTGTG 0.438 NA 47 116 0 0 0 0 PODNL1 79883 broad.mit.edu 37 19 14044707 14044707 + Missense_Mutation SNP C C G TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr19:14044707C>G uc002mxr.2 - 7 1046 c.772G>C c.(772-774)GAT>CAT p.D258H PODNL1_uc010xni.1_Missense_Mutation_p.D176H|PODNL1_uc010xnj.1_Missense_Mutation_p.D256H|PODNL1_uc002mxs.2_Missense_Mutation_p.D167H NM_024825 NP_079101 Q6PEZ8 PONL1_HUMAN podocan-like 1 isoform 1 258 Leu-rich.|LRR 8. proteinaceous extracellular matrix central_nervous_system(1) 1 OV - Ovarian serous cystadenocarcinoma(19;5.26e-23) GTGGTGGCATCCAGGCCACTG 0.612 NA 3 17 0 0 0 0 ZNF676 163223 broad.mit.edu 37 19 22363783 22363783 + Missense_Mutation SNP T T C TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr19:22363783T>C uc002nqs.1 - 3 1054 c.736A>G c.(736-738)ATT>GTT p.I246V NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 246 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) CCAGTATGAATTATCTTATGT 0.358 NA 17 194 0 0 0 0 CYP2A13 1553 broad.mit.edu 37 19 41594389 41594389 + Missense_Mutation SNP G G A rs71579358 TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr19:41594389G>A uc002opt.2 + 1 22 c.13G>A c.(13-15)GGG>AGG p.G5R NM_000766 NP_000757 Q16696 CP2AD_HUMAN cytochrome P450, family 2, subfamily A, 5 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding p.G5E(1) ovary(2)|skin(1) 3 Clomipramine(DB01242)|Nicotine(DB00184) GCTGGCCTCAGGGCTGCTTCT 0.557 NA 17 52 0 0 0 0 CCDC9 26093 broad.mit.edu 37 19 47763905 47763905 + Nonsense_Mutation SNP A A T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr19:47763905A>T uc010xym.1 + 5 478 c.271A>T c.(271-273)AAG>TAG p.K91* NM_015603 NP_056418 Q9Y3X0 CCDC9_HUMAN coiled-coil domain containing 9 91 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) AGGGGCCAGCAAGGGGGGCCG 0.706 NA 28 96 0 0 0 0 MYH14 79784 broad.mit.edu 37 19 50785002 50785002 + Missense_Mutation SNP G G A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr19:50785002G>A uc002prr.1 + 31 4366 c.4319G>A c.(4318-4320)CGC>CAC p.R1440H MYH14_uc010enu.1_Missense_Mutation_p.R1481H|MYH14_uc002prq.1_Missense_Mutation_p.R1448H|MYH14_uc010ycb.1_Intron NM_024729 NP_079005 Q7Z406 MYH14_HUMAN myosin, heavy chain 14 isoform 2 1440 Potential. axon guidance|regulation of cell shape myosin complex actin binding|ATP binding|calmodulin binding|motor activity central_nervous_system(1) 1 all_neural(266;0.0571)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195) CGGGGCCGCCGCCGGCTGCAG 0.701 NA 5 15 0 0 0 0 C19orf75 284369 broad.mit.edu 37 19 51768727 51768727 + Missense_Mutation SNP G G A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr19:51768727G>A uc002pwb.1 + 3 509 c.128G>A c.(127-129)GGA>GAA p.G43E C19orf75_uc010eov.1_Intron|C19orf75_uc010ycw.1_Intron NM_173635 NP_775906 Q8N7X8 CS075_HUMAN hypothetical protein LOC284369 43 integral to membrane ovary(1)|pancreas(1) 2 TGGATGGGAGGAGTCCCCGTG 0.577 NA 46 85 0 0 0 0 ZNF578 147660 broad.mit.edu 37 19 53015012 53015012 + Missense_Mutation SNP T T G TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr19:53015012T>G uc002pzp.3 + 6 1622 c.1378T>G c.(1378-1380)TGT>GGT p.C460G NM_001099694 NP_001093164 Q96N58 ZN578_HUMAN zinc finger protein 578 235 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01) ATGTGAAGAATGTGACAGAGT 0.378 NA 24 77 0 0 0 0 NLRP12 91662 broad.mit.edu 37 19 54327177 54327177 + Silent SNP G G A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr19:54327177G>A uc002qch.3 - 1 472 c.252C>T c.(250-252)GAC>GAT p.D84D NLRP12_uc002qci.3_Silent_p.D84D|NLRP12_uc002qcj.3_Silent_p.D84D|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Silent_p.D84D NM_144687 NP_653288 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 isoform 84 DAPIN. negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding ovary(4)|upper_aerodigestive_tract(2)|lung(1) 7 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) TCTCCCACAGGTCCTTCCTGT 0.532 NA 94 216 0 0 0 0 LAIR2 3904 broad.mit.edu 37 19 55020273 55020273 + Missense_Mutation SNP C C A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr19:55020273C>A uc002qgc.2 + 4 515 c.393C>A c.(391-393)GAC>GAA p.D131E LAIR2_uc002qgd.2_Intron|LAIR2_uc010erl.2_Missense_Mutation_p.T100K NM_002288 NP_002279 Q6ISS4 LAIR2_HUMAN leukocyte-associated immunoglobulin-like 131 extracellular region receptor activity ovary(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0967) ACTCCCCGGACACAGAGCCCG 0.632 NA 20 53 1.43e-11 1.58e-11 1 0 FIZ1 84922 broad.mit.edu 37 19 56104586 56104586 + Missense_Mutation SNP C C A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr19:56104586C>A uc002qli.3 - 3 811 c.721G>T c.(721-723)GCG>TCG p.A241S FIZ1_uc002qlj.3_Missense_Mutation_p.A241S NM_032836 NP_116225 Q96SL8 FIZ1_HUMAN FLT3-interacting zinc finger 1 241 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding 0 BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.107) TCCAGCAGCGCGGGCGCGTTG 0.582 NA 8 10 1.13e-05 1.19e-05 1 0 NLRP13 126204 broad.mit.edu 37 19 56422072 56422072 + Silent SNP G G A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr19:56422072G>A uc010ygg.1 - 6 2164 c.2139C>T c.(2137-2139)CAC>CAT p.H713H NM_176810 NP_789780 Q86W25 NAL13_HUMAN NACHT, leucine rich repeat and PYD containing 713 ATP binding skin(4)|ovary(3)|pancreas(1)|lung(1) 9 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) TGTTCCATGCGTGCATCCTGG 0.463 NA 44 129 0 0 0 0 ZNF814 730051 broad.mit.edu 37 19 58385762 58385762 + Silent SNP C C G TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr19:58385762C>G uc002qqo.2 - 3 1268 c.996G>C c.(994-996)TCG>TCC p.S332S ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.1_Intron NM_001144989 NP_001138461 B7Z6K7 ZN814_HUMAN zinc finger protein 814 332 C2H2-type 5. regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding 0 ATTTGCTAAACGATTTCCCAC 0.358 NA 2 11 0 0 0 0 NCOA1 8648 broad.mit.edu 37 2 24905933 24905933 + Silent SNP C C G TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr2:24905933C>G uc002rfk.2 + 6 726 c.468C>G c.(466-468)GTC>GTG p.V156V NCOA1_uc010eye.2_Silent_p.V156V|NCOA1_uc002rfi.2_Silent_p.V5V|NCOA1_uc002rfj.2_Silent_p.V156V|NCOA1_uc002rfl.2_Silent_p.V156V NM_003743 NP_003734 Q15788 NCOA1_HUMAN nuclear receptor coactivator 1 isoform 1 156 PAS. PAX3/NCOA1(8) soft_tissue(8)|ovary(1)|lung(1)|skin(1) 11 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ATACGAGCGTCTACAGCATAC 0.373 NA T PAX3 alveolar rhadomyosarcoma 27 84 0 0 0 0 IFT172 26160 broad.mit.edu 37 2 27668659 27668659 + Missense_Mutation SNP T T C TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr2:27668659T>C uc002rku.2 - 45 4918 c.4867A>G c.(4867-4869)ACA>GCA p.T1623A IFT172_uc010ezb.2_RNA NM_015662 NP_056477 Q9UG01 IF172_HUMAN selective LIM binding factor homolog 1623 cilium assembly cilium binding large_intestine(1)|ovary(1) 2 Acute lymphoblastic leukemia(172;0.155) GGAATGTCTGTATCCTGAAAA 0.542 NA 48 118 0 0 0 0 PLEKHH2 130271 broad.mit.edu 37 2 43980883 43980883 + Missense_Mutation SNP C C T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr2:43980883C>T uc010yny.1 + 25 3862 c.3779C>T c.(3778-3780)GCA>GTA p.A1260V NM_172069 NP_742066 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H 1260 FERM. cytoplasm|cytoskeleton|integral to membrane binding skin(2)|central_nervous_system(1) 3 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) TTAGAAATGGCAGCTCTTTTA 0.299 NA 58 86 0 0 0 0 REL 5966 broad.mit.edu 37 2 61118932 61118932 + Missense_Mutation SNP A A T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr2:61118932A>T uc002sam.1 + 2 349 c.125A>T c.(124-126)GAC>GTC p.D42V REL_uc002san.1_Missense_Mutation_p.D42V NM_002908 NP_002899 Q04864 REL_HUMAN v-rel reticuloendotheliosis viral oncogene 42 RHD. positive regulation of I-kappaB kinase/NF-kappaB cascade nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(2)|breast(1) 3 all_hematologic(2;0.0797) Ovarian(717;0.0728) LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221) CACAGCACAGACAACAACCGA 0.413 NA A Hodgkin Lymphoma 50 139 0 0 0 0 ANKRD36 375248 broad.mit.edu 37 2 97779626 97779626 + Nonsense_Mutation SNP C C G TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr2:97779626C>G uc010yva.1 + 1 394 c.150C>G c.(148-150)TAC>TAG p.Y50* ANKRD36_uc002sxn.2_Nonsense_Mutation_p.Y50*|ANKRD36_uc010yuz.1_RNA|ANKRD36_uc010fic.2_5'UTR|ANKRD36_uc002sxo.2_Nonsense_Mutation_p.Y50*|ANKRD36_uc002sxp.3_RNA NM_001164315 NP_001157787 A6QL64 AN36A_HUMAN ankyrin repeat domain 36 50 ANK 1. 0 AACTGAAGTACCTTCTGCTCA 0.517 NA 29 56 0 0 0 0 TBC1D8 11138 broad.mit.edu 37 2 101627939 101627939 + Missense_Mutation SNP C C G TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr2:101627939C>G uc010fiv.2 - 18 2977 c.2846G>C c.(2845-2847)AGA>ACA p.R949T RPL31_uc010yvu.1_Intron|RPL31_uc010yvv.1_Intron|RPL31_uc010fiu.1_Intron|TBC1D8_uc002tau.3_Missense_Mutation_p.R706T NM_001102426 NP_001095896 O95759 TBCD8_HUMAN TBC1 domain family, member 8 949 blood circulation|positive regulation of cell proliferation intracellular|membrane calcium ion binding|Rab GTPase activator activity ovary(3) 3 AACCAGGGGTCTCGATGTTGA 0.483 NA 42 79 0 0 0 0 PCDP1 200373 broad.mit.edu 37 2 120388230 120388230 + Silent SNP C C A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr2:120388230C>A uc002tmb.2 + 19 2050 c.958C>A c.(958-960)CGA>AGA p.R320R PCDP1_uc010yyq.1_Silent_p.R450R NM_001029996 NP_001025167 Q4G0U5 PCDP1_HUMAN primary ciliary dyskinesia protein 1 606 cilium calmodulin binding 0 Colorectal(110;0.196) AAAGCTTGCCCGAGCCCTAAA 0.448 NA 26 60 7.88e-20 8.86e-20 1 0 LRP1B 53353 broad.mit.edu 37 2 141083449 141083449 + Splice_Site SNP T T A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr2:141083449T>A uc002tvj.1 - 80 13196 c.12224_splice c.e80-1 p.G4075_splice NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CAGCCAAACCTGCAAAATCAA 0.348 NA TSP Lung(27;0.18) 19 35 0 0 0 0 LRP1B 53353 broad.mit.edu 37 2 141777529 141777529 + Missense_Mutation SNP C C A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr2:141777529C>A uc002tvj.1 - 12 2904 c.1932G>T c.(1930-1932)ATG>ATT p.M644I LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 644 Extracellular (Potential).|LDL-receptor class B 6. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TGGGATGAGACATTTCACCCT 0.368 NA TSP Lung(27;0.18) 35 113 9.89e-21 1.11e-20 1 0 TNFAIP6 7130 broad.mit.edu 37 2 152235971 152235971 + Missense_Mutation SNP C C T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr2:152235971C>T uc002txk.2 + 6 834 c.758C>T c.(757-759)TCC>TTC p.S253F NM_007115 NP_009046 P98066 TSG6_HUMAN tumor necrosis factor, alpha-induced protein 6 253 cell adhesion|cell-cell signaling|inflammatory response|signal transduction hyaluronic acid binding 0 BRCA - Breast invasive adenocarcinoma(221;0.131) GTATCCAAATCCAGTCAAGGA 0.338 NA 62 165 0 0 0 0 PPP1R1C 151242 broad.mit.edu 37 2 182852607 182852607 + Silent SNP C C G TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr2:182852607C>G uc002uoo.2 + 2 410 c.123C>G c.(121-123)CTC>CTG p.L41L PPP1R1C_uc002uon.2_Intron|PPP1R1C_uc002uop.1_Silent_p.L41L|PPP1R1C_uc010frm.1_Silent_p.L48L|PPP1R1C_uc010frn.1_RNA NM_001080545 NP_001074014 Q8WVI7 PPR1C_HUMAN protein phosphatase 1, regulatory (inhibitor) 41 signal transduction cytoplasm protein phosphatase inhibitor activity 0 OV - Ovarian serous cystadenocarcinoma(117;0.0628) TTGTGATTCTCAATGAGCATA 0.408 NA 86 189 0 0 0 0 ALS2CR4 65062 broad.mit.edu 37 2 202492078 202492078 + Missense_Mutation SNP G G A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr2:202492078G>A uc002uyh.1 - 12 1104 c.1003C>T c.(1003-1005)CTT>TTT p.L335F ALS2CR4_uc002uyg.1_Missense_Mutation_p.L327F|ALS2CR4_uc010zho.1_Missense_Mutation_p.L130F NM_001044385 NP_001037850 Q96Q45 TM237_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 359 integral to membrane protein binding 0 GGTGTGTAAAGGTGGATTCTG 0.333 NA 3 15 0 0 0 0 WDR12 55759 broad.mit.edu 37 2 203760839 203760839 + Missense_Mutation SNP T T A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr2:203760839T>A uc002uzl.2 - 6 1308 c.558A>T c.(556-558)AGA>AGT p.R186S WDR12_uc010ftt.2_Missense_Mutation_p.R186S NM_018256 NP_060726 Q9GZL7 WDR12_HUMAN WD repeat domain 12 protein 186 Sufficient for nucleolar localization. cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) nucleoplasm|PeBoW complex|preribosome, large subunit precursor protein binding 0 CAGCATGACCTCTACAGCAGT 0.378 NA 53 129 0 0 0 0 ABCA12 26154 broad.mit.edu 37 2 215976352 215976352 + Missense_Mutation SNP C C T rs113648834 TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr2:215976352C>T uc002vew.2 - 2 351 c.131G>A c.(130-132)CGG>CAG p.R44Q ABCA12_uc010zjn.1_5'UTR NM_173076 NP_775099 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A, member 12 44 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 11 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) AAATTTGGTCCGAGTAATAGC 0.299 NA 29 89 0 0 0 0 SPEG 10290 broad.mit.edu 37 2 220354645 220354645 + Silent SNP C C T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr2:220354645C>T uc010fwg.2 + 36 8905 c.8905C>T c.(8905-8907)CTG>TTG p.L2969L NM_005876 NP_005867 Q15772 SPEG_HUMAN SPEG complex locus 2969 Protein kinase 2. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity stomach(9)|ovary(4)|central_nervous_system(1) 14 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) CTACACCTTCCTGGAGGAGAA 0.612 NA 19 55 0 0 0 0 HJURP 55355 broad.mit.edu 37 2 234749404 234749404 + Silent SNP C C T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr2:234749404C>T uc002vvg.2 - 8 2088 c.2022G>A c.(2020-2022)AGG>AGA p.R674R HJURP_uc010znd.1_Silent_p.R613R|HJURP_uc010zne.1_Silent_p.R582R NM_018410 NP_060880 Q8NCD3 HJURP_HUMAN Holliday junction recognition protein 674 cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm DNA binding|histone binding ovary(1) 1 Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128) Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829) ACTGATGGTCCCTCGTGCCAT 0.577 NA 48 107 0 0 0 0 TNFRSF6B 8771 broad.mit.edu 37 20 62329691 62329691 + Missense_Mutation SNP C C G TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr20:62329691C>G uc002yfy.2 + 7 1112 c.678C>G c.(676-678)ATC>ATG p.I226M RTEL1_uc002yfw.2_RNA|TNFRSF6B_uc002yfz.2_Missense_Mutation_p.I226M NM_032945 NP_116563 O95407 TNF6B_HUMAN tumor necrosis factor receptor superfamily, 226 anti-apoptosis|apoptosis extracellular region|soluble fraction protein binding|receptor activity central_nervous_system(1)|skin(1) 2 all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08) Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504) ACATCTCCATCAAGAGGCTGC 0.672 NA 11 43 0 0 0 0 TRPM2 7226 broad.mit.edu 37 21 45837865 45837865 + Missense_Mutation SNP C C T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr21:45837865C>T uc002zet.1 + 22 3415 c.3202C>T c.(3202-3204)CAT>TAT p.H1068Y TRPM2_uc002zeu.1_Missense_Mutation_p.H1068Y|TRPM2_uc002zew.1_Missense_Mutation_p.H1068Y|TRPM2_uc010gpt.1_Missense_Mutation_p.H1068Y|TRPM2_uc002zex.1_Missense_Mutation_p.H854Y|TRPM2_uc002zey.1_Missense_Mutation_p.H581Y|uc011afe.1_Intron NM_003307 NP_003298 O94759 TRPM2_HUMAN transient receptor potential cation channel, 1068 Cytoplasmic (Potential). integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 GTTCCAGCGCCATGACCTGAT 0.488 NA 34 77 0 0 0 0 KRTAP10-10 353333 broad.mit.edu 37 21 46057446 46057446 + Silent SNP T T C rs444891 byFrequency TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr21:46057446T>C uc002zfq.2 + 1 174 c.112T>C c.(112-114)TTG>CTG p.L38L C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_181688 NP_859016 P60014 KR10A_HUMAN keratin associated protein 10-10 38 15 X 5 AA repeats of C-C-X(3). keratin filament 0 AGCCCCCAGCTTGACCCTGGT 0.662 NA 4 73 0 0 0 0 COL6A1 1291 broad.mit.edu 37 21 47410318 47410318 + Silent SNP C C T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr21:47410318C>T uc002zhu.1 + 13 1086 c.984C>T c.(982-984)GAC>GAT p.D328D NM_001848 NP_001839 P12109 CO6A1_HUMAN collagen, type VI, alpha 1 precursor 328 Triple-helical region. axon guidance|cell adhesion|protein heterotrimerization collagen type VI|protein complex platelet-derived growth factor binding ovary(1) 1 all_hematologic(128;0.24) Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649) Palifermin(DB00039) GTGGCATCGACGGGGTGGACG 0.438 NA 19 56 0 0 0 0 ZC3H7B 23264 broad.mit.edu 37 22 41736067 41736067 + Missense_Mutation SNP C C T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr22:41736067C>T uc003azw.2 + 10 1280 c.1064C>T c.(1063-1065)TCG>TTG p.S355L ZC3H7B_uc010gyl.1_Intron NM_017590 NP_060060 Q9UGR2 Z3H7B_HUMAN zinc finger CCCH-type containing 7B 371 interspecies interaction between organisms nucleus nucleic acid binding|protein binding|zinc ion binding central_nervous_system(1) 1 CTGCCGTACTCGGAGACCCGG 0.652 NA 20 61 0 0 0 0 PARP9 83666 broad.mit.edu 37 3 122269638 122269638 + Missense_Mutation SNP A A C TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr3:122269638A>C uc010hri.2 - 6 1369 c.1224T>G c.(1222-1224)CAT>CAG p.H408Q PARP9_uc003eff.3_Missense_Mutation_p.H373Q|PARP9_uc011bjs.1_Missense_Mutation_p.H373Q|PARP9_uc003efg.2_Intron|PARP9_uc003efi.2_Missense_Mutation_p.H373Q|PARP9_uc003efh.2_Missense_Mutation_p.H408Q|PARP9_uc003efj.2_Missense_Mutation_p.H373Q NM_001146102 NP_001139574 Q8IXQ6 PARP9_HUMAN poly (ADP-ribose) polymerase family, member 9 408 Macro 2. cell migration cytosol|nucleus NAD+ ADP-ribosyltransferase activity|protein binding ovary(1)|pancreas(1)|prostate(1)|skin(1) 4 GBM - Glioblastoma multiforme(114;0.0519) CCTTCATTGCATGTTTTAATA 0.378 NA 23 64 0 0 0 0 ROPN1 54763 broad.mit.edu 37 3 123695771 123695771 + Silent SNP T T C TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr3:123695771T>C uc003eha.2 - 4 515 c.174A>G c.(172-174)CGA>CGG p.R58R NM_017578 NP_060048 Q9HAT0 ROP1A_HUMAN ropporin 58 signal transduction cAMP-dependent protein kinase regulator activity ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(114;0.148) ACAAAGCGACTCGCTCAGACC 0.517 NA 44 106 0 0 0 0 SNX4 8723 broad.mit.edu 37 3 125176125 125176125 + Silent SNP C C T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr3:125176125C>T uc003eib.2 - 11 1071 c.1029G>A c.(1027-1029)GAG>GAA p.E343E SNX4_uc011bkf.1_Silent_p.E198E NM_003794 NP_003785 O95219 SNX4_HUMAN sorting nexin 4 343 cell communication|endocytic recycling|endocytosis|protein transport cytoplasmic dynein complex|early endosome membrane phosphatidylinositol binding|protein binding breast(2)|ovary(1)|central_nervous_system(1) 4 TTACCAGTTCCTCACACTGCT 0.458 NA 39 111 0 0 0 0 COL6A6 131873 broad.mit.edu 37 3 130289727 130289727 + Missense_Mutation SNP G G C TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr3:130289727G>C uc010htl.2 + 6 2498 c.2467G>C c.(2467-2469)GAT>CAT p.D823H NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN collagen type VI alpha 6 precursor 823 VWFA 5.|Nonhelical region. axon guidance|cell adhesion collagen ovary(6)|central_nervous_system(1)|pancreas(1) 8 TATTGACTATGATGAGTATAA 0.398 NA 30 84 0 0 0 0 TM4SF1 4071 broad.mit.edu 37 3 149089577 149089577 + Missense_Mutation SNP G G A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr3:149089577G>A uc003exb.1 - 4 725 c.491C>T c.(490-492)TCT>TTT p.S164F TM4SF1_uc003exc.1_Missense_Mutation_p.S75F NM_014220 NP_055035 P30408 T4S1_HUMAN transmembrane 4 superfamily member 1 164 Helical; (Probable). integral to plasma membrane 0 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) CAAGAGGATAGAAAACAGAGA 0.433 NA 46 90 0 0 0 0 ACTL6A 86 broad.mit.edu 37 3 179291189 179291189 + Missense_Mutation SNP G G A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr3:179291189G>A uc003fjw.2 + 4 483 c.310G>A c.(310-312)GAT>AAT p.D104N ACTL6A_uc003fjx.2_Missense_Mutation_p.D62N|ACTL6A_uc003fjy.2_Missense_Mutation_p.D62N NM_004301 NP_004292 O96019 ACL6A_HUMAN actin-like 6A isoform 1 104 chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex ATP binding|chromatin binding ovary(1) 1 all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191) OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169) AGCTATTTTGGATCATACCTA 0.358 NA 40 98 0 0 0 0 ATP13A4 84239 broad.mit.edu 37 3 193220338 193220338 + Missense_Mutation SNP G G C TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr3:193220338G>C uc003ftd.2 - 3 433 c.325C>G c.(325-327)CTC>GTC p.L109V ATP13A4_uc003fte.1_Missense_Mutation_p.L109V|ATP13A4_uc011bsr.1_5'UTR NM_032279 NP_115655 Q4VNC1 AT134_HUMAN ATPase type 13A4 109 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) TCTGTCATGAGAGGGTGGTCA 0.398 NA 60 122 0 0 0 0 ADD1 118 broad.mit.edu 37 4 2896318 2896318 + Missense_Mutation SNP A A C TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr4:2896318A>C uc003gfr.2 + 6 789 c.601A>C c.(601-603)AAT>CAT p.N201H ADD1_uc003gfn.2_Intron|ADD1_uc010ico.1_Missense_Mutation_p.N201H|ADD1_uc003gfo.2_Missense_Mutation_p.N201H|ADD1_uc003gfp.2_Missense_Mutation_p.N201H|ADD1_uc003gfq.2_Missense_Mutation_p.N201H|ADD1_uc003gfs.2_Missense_Mutation_p.N201H|ADD1_uc003gft.3_Missense_Mutation_p.N201H|ADD1_uc003gfu.2_5'UTR NM_001119 NP_001110 P35611 ADDA_HUMAN adducin 1 (alpha) isoform a 201 actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding cytosol|F-actin capping protein complex|nucleus|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) GGTTAAGATCAATCTACAAGG 0.313 NA 16 30 0 0 0 0 NPFFR2 10886 broad.mit.edu 37 4 73012714 73012714 + Missense_Mutation SNP C C A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr4:73012714C>A uc003hgg.2 + 4 852 c.754C>A c.(754-756)CCT>ACT p.P252T NPFFR2_uc010iig.1_Missense_Mutation_p.P34T|NPFFR2_uc003hgi.2_Missense_Mutation_p.P153T|NPFFR2_uc003hgh.2_Missense_Mutation_p.P150T|NPFFR2_uc003hgj.2_RNA NM_004885 NP_004876 Q9Y5X5 NPFF2_HUMAN neuropeptide FF receptor 2 isoform 1 252 Cytoplasmic (Potential). detection of abiotic stimulus actin cytoskeleton|integral to plasma membrane neuropeptide receptor activity ovary(2)|central_nervous_system(1) 3 Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138) TGTGGTCTACCCTTTTAAACC 0.378 NA 98 280 3.78e-48 4.31e-48 1 0 RAP1GDS1 5910 broad.mit.edu 37 4 99358174 99358174 + Missense_Mutation SNP A A G TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr4:99358174A>G uc003htx.3 + 14 1841 c.1651A>G c.(1651-1653)ATC>GTC p.I551V RAP1GDS1_uc003htw.3_Missense_Mutation_p.I552V|RAP1GDS1_uc003htv.3_Missense_Mutation_p.I551V|RAP1GDS1_uc003htz.3_Missense_Mutation_p.I502V|RAP1GDS1_uc003hty.3_Missense_Mutation_p.I503V|RAP1GDS1_uc003hua.3_Missense_Mutation_p.I460V NM_001100427 NP_001093897 P52306 GDS1_HUMAN RAP1, GTP-GDP dissociation stimulator 1 isoform 551 binding|GTPase activator activity ovary(1)|lung(1)|breast(1) 3 OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576) TGCTCCTGAAATCAAATATAA 0.343 NA T NUP98 T-ALL 37 59 0 0 0 0 FBXO8 26269 broad.mit.edu 37 4 175160279 175160279 + Missense_Mutation SNP G G A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr4:175160279G>A uc003itp.2 - 5 1488 c.638C>T c.(637-639)GCA>GTA p.A213V FBXO8_uc003itq.2_Missense_Mutation_p.A172V NM_012180 NP_036312 Q9NRD0 FBX8_HUMAN F-box only protein 8 213 SEC7. regulation of ARF protein signal transduction|ubiquitin-dependent protein catabolic process cytoplasm|ubiquitin ligase complex ARF guanyl-nucleotide exchange factor activity breast(2) 2 Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107) all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1) TTCTCTCAGTGCATTTGGCAA 0.378 NA 17 80 0 0 0 0 WDR17 116966 broad.mit.edu 37 4 177067239 177067239 + Silent SNP T T C TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr4:177067239T>C uc003iuj.2 + 13 1851 c.1695T>C c.(1693-1695)CAT>CAC p.H565H WDR17_uc003iuk.2_Silent_p.H541H|WDR17_uc003ium.3_Silent_p.H541H|WDR17_uc003iul.1_Intron NM_170710 NP_733828 Q8IZU2 WDR17_HUMAN WD repeat domain 17 isoform 1 565 WD 10. ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1) 6 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) TTAGTGGGCATACAGCAAAAG 0.388 NA 40 166 0 0 0 0 PLEKHG4B 153478 broad.mit.edu 37 5 171356 171356 + Missense_Mutation SNP A A G TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr5:171356A>G uc003jak.2 + 14 2829 c.2779A>G c.(2779-2781)ATG>GTG p.M927V NM_052909 NP_443141 Q96PX9 PKH4B_HUMAN pleckstrin homology domain containing, family G 927 DH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity skin(2) 2 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) AGGTGACAAAATGGACCTGGC 0.697 NA 46 19 0 0 0 0 FASTKD3 79072 broad.mit.edu 37 5 7867445 7867445 + Missense_Mutation SNP A A T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr5:7867445A>T uc003jeb.2 - 2 889 c.752T>A c.(751-753)TTT>TAT p.F251Y FASTKD3_uc011cmp.1_5'UTR|FASTKD3_uc003jec.2_Intron|MTRR_uc010itn.1_5'Flank|MTRR_uc003jee.3_5'Flank|MTRR_uc003jed.2_5'Flank|MTRR_uc003jef.3_5'Flank|MTRR_uc003jeg.3_5'Flank|MTRR_uc010ito.2_5'Flank NM_024091 NP_076996 Q14CZ7 FAKD3_HUMAN FAST kinase domains 3 251 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity ovary(2)|breast(1)|pancreas(1) 4 CTCCGGGGTAAATGTTTCCAA 0.363 NA 43 296 0 0 0 0 CDH10 1008 broad.mit.edu 37 5 24498538 24498538 + Missense_Mutation SNP G G T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr5:24498538G>T uc003jgr.1 - 9 1816 c.1484C>A c.(1483-1485)ACT>AAT p.T495N CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 495 Cadherin 5.|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) ACATACAAAAGTGTCATAGAA 0.393 NA HNSCC(23;0.051) 27 232 4.23e-11 4.66e-11 1 0 CDH10 1008 broad.mit.edu 37 5 24498580 24498580 + Missense_Mutation SNP T T A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr5:24498580T>A uc003jgr.1 - 9 1774 c.1442A>T c.(1441-1443)GAT>GTT p.D481V CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 481 Cadherin 4.|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) GTCATTAACATCCAAAATTCT 0.408 NA HNSCC(23;0.051) 33 238 0 0 0 0 PDZD2 23037 broad.mit.edu 37 5 32058193 32058193 + Silent SNP A A G TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr5:32058193A>G uc003jhl.2 + 12 2572 c.2184A>G c.(2182-2184)GAA>GAG p.E728E PDZD2_uc003jhm.2_Silent_p.E728E|PDZD2_uc011cnx.1_Silent_p.E554E NM_178140 NP_835260 O15018 PDZD2_HUMAN PDZ domain containing 2 728 PDZ 4. cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1) 9 TCGTCATGGAAGTAACACTCA 0.468 NA 10 102 0 0 0 0 TRPC7 57113 broad.mit.edu 37 5 135587503 135587503 + Nonsense_Mutation SNP C C T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr5:135587503C>T uc003lbn.1 - 5 1413 c.1410G>A c.(1408-1410)TGG>TGA p.W470* TRPC7_uc010jef.1_Nonsense_Mutation_p.W407*|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Nonsense_Mutation_p.W401*|TRPC7_uc010jei.1_Nonsense_Mutation_p.W346*|TRPC7_uc010jej.1_Nonsense_Mutation_p.W22* NM_020389 NP_065122 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, 471 Helical; (Potential). axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CTAGCAGGTTCCACAAGTGCA 0.567 NA 32 47 0 0 0 0 HIVEP1 3096 broad.mit.edu 37 6 12015862 12015862 + Missense_Mutation SNP A A T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr6:12015862A>T uc003nac.2 + 2 180 c.1A>T c.(1-3)ATG>TTG p.M1L NM_002114 NP_002105 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer 1 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding 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) GTCAAAGAAGATGCCTCGAAC 0.358 NA 33 103 0 0 0 0 MCM3 4172 broad.mit.edu 37 6 52129395 52129395 + Missense_Mutation SNP G G T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr6:52129395G>T uc003pan.1 - 17 2528 c.2418C>A c.(2416-2418)TTC>TTA p.F806L MCM3_uc011dwu.1_Missense_Mutation_p.F760L NM_002388 NP_002379 P25205 MCM3_HUMAN minichromosome maintenance complex component 3 806 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 alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm ATP binding|DNA binding|helicase activity|protein binding ovary(1)|lung(1)|skin(1) 3 Lung NSC(77;0.0931) CTCAGATGAGGAAGATGATGC 0.542 NA 36 112 3.63e-18 4.05e-18 1 0 BAI3 577 broad.mit.edu 37 6 69703805 69703805 + Missense_Mutation SNP C C A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr6:69703805C>A uc003pev.3 + 11 2328 c.1880C>A c.(1879-1881)ACA>AAA p.T627K BAI3_uc010kak.2_Missense_Mutation_p.T627K NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 627 Extracellular (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1) 50 all_lung(197;0.212) AGAAATGTGACAGACACATTT 0.443 NA 46 122 1.17e-09 1.28e-09 1 0 ZNF292 23036 broad.mit.edu 37 6 87969654 87969654 + Missense_Mutation SNP G G C TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr6:87969654G>C uc003plm.3 + 8 6348 c.6307G>C c.(6307-6309)GAG>CAG p.E2103Q NM_015021 NP_055836 O60281 ZN292_HUMAN zinc finger protein 292 2103 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4) 4 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) CCAATCCCTTGAGTTTCCAAC 0.413 NA 29 89 0 0 0 0 MDN1 23195 broad.mit.edu 37 6 90385185 90385185 + Silent SNP G G A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr6:90385185G>A uc003pnn.1 - 78 12875 c.12759C>T c.(12757-12759)CTC>CTT p.L4253L NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 4253 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) GCTGATACCTGAGGATGATCC 0.527 NA 29 69 0 0 0 0 ASCC3 10973 broad.mit.edu 37 6 101037629 101037629 + Missense_Mutation SNP C C T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr6:101037629C>T uc003pqk.2 - 36 5760 c.5431G>A c.(5431-5433)GAA>AAA p.E1811K NM_006828 NP_006819 Q8N3C0 HELC1_HUMAN activating signal cointegrator 1 complex subunit 1811 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(5)|skin(1) 6 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) GTTAGAGGTTCAATGCTGCGA 0.343 NA 61 160 0 0 0 0 TRAF3IP2 10758 broad.mit.edu 37 6 111913273 111913273 + Missense_Mutation SNP G G A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr6:111913273G>A uc011ebc.1 - 3 632 c.17C>T c.(16-18)CCT>CTT p.P6L TRAF3IP2_uc003pvg.2_Missense_Mutation_p.P6L|TRAF3IP2_uc003pvf.2_Missense_Mutation_p.P6L|TRAF3IP2_uc010kdw.2_Missense_Mutation_p.P6L|TRAF3IP2_uc010kdx.2_Missense_Mutation_p.P6L NM_147686 NP_679211 O43734 CIKS_HUMAN TRAF3 interacting protein 2 isoform 2 15 intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade intracellular ovary(2)|central_nervous_system(1) 3 all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732) AACCTCCACAGGAATGCTTCG 0.423 NA 48 125 0 0 0 0 PAPOLB 56903 broad.mit.edu 37 7 4900071 4900071 + Silent SNP G G A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr7:4900071G>A uc003snk.2 - 1 1555 c.1371C>T c.(1369-1371)CTC>CTT p.L457L RADIL_uc003sng.1_Intron|RADIL_uc011jwd.1_Intron|RADIL_uc003snj.1_Intron NM_020144 NP_064529 Q9NRJ5 PAPOB_HUMAN poly(A) polymerase beta (testis specific) 456 mRNA processing|RNA polyadenylation|transcription, DNA-dependent nucleus ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding ovary(1) 1 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14) TATCATAGGTGAGATCAATGC 0.363 NA 92 122 0 0 0 0 POU6F2 11281 broad.mit.edu 37 7 39247047 39247047 + Silent SNP C C A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr7:39247047C>A uc003thb.1 + 4 381 c.339C>A c.(337-339)GGC>GGA p.G113G POU6F2_uc010kxo.2_Silent_p.G105G NM_007252 NP_009183 P78424 PO6F2_HUMAN POU class 6 homeobox 2 isoform 1 113 central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 TGCCGGGAGGCCCCCCAGCCC 0.577 NA 79 200 1.32e-37 1.5e-37 1 0 STX1A 6804 broad.mit.edu 37 7 73115164 73115164 + Missense_Mutation SNP T T A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr7:73115164T>A uc003tyx.2 - 9 712 c.685A>T c.(685-687)ATG>TTG p.M229L WBSCR22_uc003tyw.1_Intron|STX1A_uc003tyy.2_Intron|STX1A_uc010lbj.1_Missense_Mutation_p.D259V NM_004603 NP_004594 Q16623 STX1A_HUMAN syntaxin 1A isoform 1 229 Cytoplasmic (Potential).|t-SNARE coiled-coil homology. energy reserve metabolic process|glutamate secretion|intracellular protein transport|regulation of insulin secretion cell junction|extracellular region|integral to membrane|neuron projection|synaptic vesicle membrane|synaptosome SNAP receptor activity 0 Lung NSC(55;0.0908)|all_lung(88;0.198) CTGTCAATCATCTCTCCCTGC 0.627 NA 13 23 0 0 0 0 PCLO 27445 broad.mit.edu 37 7 82784471 82784471 + Missense_Mutation SNP A A G TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr7:82784471A>G uc003uhx.2 - 2 1775 c.1486T>C c.(1486-1488)TCA>CCA p.S496P PCLO_uc003uhv.2_Missense_Mutation_p.S496P NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 GGCTTTGCTGAGCCAGGCTGT 0.607 NA 10 157 0 0 0 0 MFHAS1 9258 broad.mit.edu 37 8 8750418 8750418 + Missense_Mutation SNP G G A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr8:8750418G>A uc003wsj.1 - 1 714 c.151C>T c.(151-153)CCC>TCC p.P51S NM_004225 NP_004216 Q9Y4C4 MFHA1_HUMAN malignant fibrous histiocytoma amplified 51 0 Hepatocellular(245;0.217) COAD - Colon adenocarcinoma(149;0.124) GGGGAGGCGGGGGACTCGAGC 0.587 NA 3 6 0 0 0 0 CSPP1 79848 broad.mit.edu 37 8 68102908 68102908 + Missense_Mutation SNP G G A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr8:68102908G>A uc003xxi.2 + 29 3365 c.3334G>A c.(3334-3336)GCC>ACC p.A1112T ARFGEF1_uc003xxl.1_Intron|CSPP1_uc003xxj.2_Missense_Mutation_p.A1077T|CSPP1_uc003xxk.2_Missense_Mutation_p.A732T|CSPP1_uc010lyw.2_Missense_Mutation_p.A172T NM_001077204 NP_001070672 Q1MSJ5 CSPP1_HUMAN centrosome spindle pole associated protein 1 1112 centrosome|microtubule|spindle ovary(3)|breast(2) 5 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153) GACATATCCTGCCATTGAAGA 0.483 NA 38 81 0 0 0 0 TERF1 7013 broad.mit.edu 37 8 73926133 73926133 + Missense_Mutation SNP T T G TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr8:73926133T>G uc003xzd.2 + 2 348 c.323T>G c.(322-324)ATT>AGT p.I108S TERF1_uc003xzc.2_RNA|TERF1_uc003xze.2_Missense_Mutation_p.I108S NM_017489 NP_059523 P54274 TERF1_HUMAN telomeric repeat binding factor 1 isoform 1 108 TRFH dimerization. age-dependent telomere shortening|cell division|G2/M transition of mitotic cell cycle|induction of apoptosis|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of telomere maintenance via semi-conservative replication|negative regulation of telomere maintenance via telomerase|positive regulation of microtubule polymerization|positive regulation of mitosis|positive regulation of mitotic cell cycle|protein homooligomerization|regulation of transcription, DNA-dependent|telomere maintenance via telomerase|telomere maintenance via telomerase|telomere maintenance via telomere shortening chromosome, telomeric region|cytoplasm|nuclear telomere cap complex|nucleoplasm|nucleus|spindle caspase activator activity|DNA bending activity|double-stranded telomeric DNA binding|identical protein binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|telomerase inhibitor activity|telomeric DNA binding ovary(1)|lung(1)|skin(1) 3 Breast(64;0.218) Epithelial(68;0.0984) TTTTTAGCTATTATTCATGGA 0.323 NA 39 94 0 0 0 0 ZFHX4 79776 broad.mit.edu 37 8 77617964 77617964 + Silent SNP T T C rs74886598 TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr8:77617964T>C uc003yav.2 + 2 2028 c.1641T>C c.(1639-1641)AGT>AGC p.S547S ZFHX4_uc003yat.1_Silent_p.S547S|ZFHX4_uc003yau.1_Silent_p.S547S|ZFHX4_uc003yaw.1_Silent_p.S547S NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 547 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) CCAGTGGCAGTGTTGCTAGTA 0.488 NA HNSCC(33;0.089) 6 31 0 0 0 0 RUNX1T1 862 broad.mit.edu 37 8 92972691 92972691 + Missense_Mutation SNP C C A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr8:92972691C>A uc003yfd.2 - 11 1678 c.1594G>T c.(1594-1596)GCC>TCC p.A532S RUNX1T1_uc003yfc.1_Missense_Mutation_p.A505S|RUNX1T1_uc003yfe.1_Missense_Mutation_p.A495S|RUNX1T1_uc010mao.2_Missense_Mutation_p.A505S|RUNX1T1_uc011lgi.1_Missense_Mutation_p.A543S|uc010mam.2_5'Flank|RUNX1T1_uc010man.1_Missense_Mutation_p.A157S|RUNX1T1_uc003yfb.1_Missense_Mutation_p.A495S NM_175634 NP_783552 Q06455 MTG8_HUMAN acute myelogenous leukemia 1 translocation 1 532 MYND-type. generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1) 16 BRCA - Breast invasive adenocarcinoma(11;0.0141) CAGTATCGGGCTGTGTTACAG 0.522 NA 16 49 0.000422831 0.000441541 1 0 CSMD3 114788 broad.mit.edu 37 8 113697694 113697694 + Missense_Mutation SNP C C T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr8:113697694C>T uc003ynu.2 - 15 2582 c.2423G>A c.(2422-2424)CGA>CAA p.R808Q CSMD3_uc003yns.2_Missense_Mutation_p.R80Q|CSMD3_uc003ynt.2_Missense_Mutation_p.R768Q|CSMD3_uc011lhx.1_Missense_Mutation_p.R704Q NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 808 Extracellular (Potential).|CUB 4. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 AAATTCCAATCGCAGTATGTG 0.408 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 36 97 0 0 0 0 TRPM6 140803 broad.mit.edu 37 9 77397710 77397710 + Silent SNP C C T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr9:77397710C>T uc004ajl.1 - 22 3217 c.2979G>A c.(2977-2979)GTG>GTA p.V993V TRPM6_uc004ajk.1_Silent_p.V988V|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajm.1_Silent_p.V279V NM_017662 NP_060132 Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, 993 Helical; (Potential). response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 8 CCTTGCGTGCCACTCCAAAGC 0.438 NA 33 33 0 0 0 0 OR13C9 286362 broad.mit.edu 37 9 107380278 107380278 + Missense_Mutation SNP C C A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr9:107380278C>A uc011lvr.1 - 1 208 c.208G>T c.(208-210)GAC>TAC p.D70Y NM_001001956 NP_001001956 Q8NGT0 O13C9_HUMAN olfactory receptor, family 13, subfamily C, 70 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TAGCAGATGTCCAAGAAGGAG 0.478 NA 48 124 4.45e-29 5.03e-29 1 0 TNC 3371 broad.mit.edu 37 9 117848842 117848842 + Missense_Mutation SNP C C T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr9:117848842C>T uc004bjj.3 - 3 1530 c.1168G>A c.(1168-1170)GGG>AGG p.G390R TNC_uc010mvf.2_Missense_Mutation_p.G390R NM_002160 NP_002151 P24821 TENA_HUMAN tenascin C precursor 390 EGF-like 8. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1) 7 TCACACCGCCCGTCTACACAG 0.587 NA 33 104 0 0 0 0 GAPVD1 26130 broad.mit.edu 37 9 128112629 128112629 + Missense_Mutation SNP C C T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr9:128112629C>T uc010mwx.2 + 22 3735 c.3409C>T c.(3409-3411)CCA>TCA p.P1137S GAPVD1_uc004bpp.2_Missense_Mutation_p.P1146S|GAPVD1_uc004bpq.2_Missense_Mutation_p.P1119S|GAPVD1_uc004bpr.2_Missense_Mutation_p.P1098S|GAPVD1_uc004bps.2_Missense_Mutation_p.P1092S|GAPVD1_uc004bpt.2_Missense_Mutation_p.P152S NM_015635 NP_056450 Q14C86 GAPD1_HUMAN GTPase activating protein and VPS9 domains 1 1137 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 TGTTGCCTTCCCAGTGCTGAC 0.383 NA 99 87 0 0 0 0 ST6GALNAC6 30815 broad.mit.edu 37 9 130652958 130652958 + Missense_Mutation SNP C C T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr9:130652958C>T uc004bso.1 - 5 781 c.662G>A c.(661-663)CGG>CAG p.R221Q ST6GALNAC6_uc004bsn.1_Missense_Mutation_p.R187Q|ST6GALNAC6_uc011man.1_Intron|ST6GALNAC6_uc004bsp.1_Missense_Mutation_p.R221Q|ST6GALNAC6_uc004bsq.1_Missense_Mutation_p.R187Q|ST6GALNAC6_uc004bsr.2_Missense_Mutation_p.R187Q|ST6GALNAC6_uc010mxp.1_RNA NM_013443 NP_038471 Q969X2 SIA7F_HUMAN sialytransferase 7F 221 Lumenal (Potential). protein glycosylation integral to Golgi membrane|plasma membrane 0 GTCAAATTGCCGCATGCGGCC 0.642 NA 69 54 0 0 0 0 SEC16A 9919 broad.mit.edu 37 9 139339534 139339534 + Silent SNP T T C TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr9:139339534T>C uc004chx.2 - 30 7206 c.6897A>G c.(6895-6897)TTA>TTG p.L2299L SEC16A_uc004chp.2_Intron|SEC16A_uc004chq.2_Intron|SEC16A_uc011mea.1_Intron|SEC16A_uc004chr.2_Silent_p.L327L|SEC16A_uc004chs.2_Silent_p.L139L|SEC16A_uc004cht.2_Silent_p.L349L|SEC16A_uc004chu.2_Silent_p.L506L|SEC16A_uc004chv.3_Intron|SEC16A_uc004chw.2_Silent_p.L2274L|SEC16A_uc010nbn.2_Intron NM_014866 NP_055681 O15027 SC16A_HUMAN SEC16 homolog A 2121 Required for interaction with SEC23A. protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane 0 Myeloproliferative disorder(178;0.0511) Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06) CTTCACGTGATAATGAACTCA 0.498 NA 7 9 0 0 0 0 MAN1B1 11253 broad.mit.edu 37 9 139990685 139990687 + Splice_Site TNP ACA ACA TAC TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr9:139990685_139990687ACA>TAC uc004cld.2 + 4 501 c.466_splice c.e4-2 p.K156_splice MAN1B1_uc004clc.2_Splice_Site_p.K57_splice|MAN1B1_uc011meo.1_Splice_Site_p.K57_splice|MAN1B1_uc011mep.1_Splice_Site_p.K156_splice|MAN1B1_uc010ncc.2_Splice_Site NM_016219 NP_057303 Q9UKM7 MA1B1_HUMAN alpha 1,2-mannosidase oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity ovary(1)|central_nervous_system(1) 2 all_cancers(76;0.0926) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513) CAATTTCTCTACAGAAGACACAA 0.567 NA 9 23 0 0 0 0 MRPL41 64975 broad.mit.edu 37 9 140446898 140446898 + Missense_Mutation SNP C C A rs3210506 TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr9:140446898C>A uc004cnh.3 + 2 495 c.365C>A c.(364-366)ACA>AAA p.T122K PNPLA7_uc010ncj.1_5'Flank|PNPLA7_uc004cnf.2_5'Flank NM_032477 NP_115866 Q8IXM3 RM41_HUMAN mitochondrial ribosomal protein L41 122 apoptosis|cell cycle|translation mitochondrial large ribosomal subunit structural constituent of ribosome 0 all_cancers(76;0.106) OV - Ovarian serous cystadenocarcinoma(145;0.000415)|Epithelial(140;0.00106) TTCGAGCCCACACAGGAGGGA 0.592 NA 4 76 0.00024832 0.000259883 1 0 WDR85 92715 broad.mit.edu 37 9 140473185 140473185 + Silent SNP G G A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr9:140473185G>A uc004cnk.1 - 1 203 c.45C>T c.(43-45)ACC>ACT p.T15T WDR85_uc004cnl.1_5'UTR|WDR85_uc004cnm.1_5'UTR|WDR85_uc004cnn.1_5'UTR NM_138778 NP_620133 Q9BTV6 WDR85_HUMAN WD repeat domain 85 15 peptidyl-diphthamide biosynthetic process from peptidyl-histidine 0 all_cancers(76;0.106) OV - Ovarian serous cystadenocarcinoma(145;0.00029)|Epithelial(140;0.000509) CCGAGTCCGCGGTCAGCTCGG 0.746 NA 7 2 0 0 0 0 FAM47A 158724 broad.mit.edu 37 X 34149589 34149589 + Silent SNP A A C TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chrX:34149589A>C uc004ddg.2 - 1 840 c.807T>G c.(805-807)TCT>TCG p.S269S NM_203408 NP_981953 Q5JRC9 FA47A_HUMAN hypothetical protein LOC158724 269 ovary(4)|central_nervous_system(1) 5 GCTTCCTCTCAGAATCCAGTT 0.587 NA 22 26 0 0 0 0 SRPX 8406 broad.mit.edu 37 X 38024064 38024064 + Missense_Mutation SNP T T A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chrX:38024064T>A uc004ddy.1 - 5 697 c.611A>T c.(610-612)GAG>GTG p.E204V SRPX_uc004ddz.1_Missense_Mutation_p.E184V|SRPX_uc011mkh.1_Missense_Mutation_p.E145V|SRPX_uc011mki.1_Missense_Mutation_p.E204V NM_006307 NP_006298 P78539 SRPX_HUMAN sushi-repeat-containing protein, X-linked 204 HYR. cell adhesion cell surface|membrane 0 TTCGGGTGTCTCCCAGGACAC 0.433 NA 5 34 0 0 0 0 MUM1L1 139221 broad.mit.edu 37 X 105450134 105450134 + Missense_Mutation SNP G G T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chrX:105450134G>T uc004emf.1 + 4 1358 c.709G>T c.(709-711)GCT>TCT p.A237S MUM1L1_uc004emg.1_Missense_Mutation_p.A237S NM_152423 NP_689636 Q5H9M0 MUML1_HUMAN melanoma associated antigen (mutated) 1-like 1 237 ovary(2)|pancreas(1)|skin(1) 4 TGAAAAGTTTGCTCCACCTTT 0.418 NA 15 10 2.23e-06 2.38e-06 1 0 ODZ1 10178 broad.mit.edu 37 X 123699280 123699280 + Nonsense_Mutation SNP G G T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chrX:123699280G>T uc004euj.2 - 12 2272 c.2208C>A c.(2206-2208)TGC>TGA p.C736* ODZ1_uc011muj.1_Nonsense_Mutation_p.C735*|ODZ1_uc010nqy.2_Nonsense_Mutation_p.C736* NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 736 EGF-like 7.|Extracellular (Potential). immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 23 TTCCATCTTTGCATTGGCCAT 0.468 NA 4 56 0.00909568 0.00931271 1 0 FAF1 11124 broad.mit.edu 37 1 51050366 51050367 + Frame_Shift_Ins INS - - T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr1:51050366_51050367insT uc009vyx.1 - 11 1020_1021 c.957_958insA c.(955-960)AAATCTfs p.K319fs FAF1_uc009vyw.1_Intron|FAF1_uc001cse.1_Frame_Shift_Ins_p.K319fs|FAF1_uc010onc.1_Frame_Shift_Ins_p.K77fs NM_007051 NP_008982 Q9UNN5 FAF1_HUMAN FAS-associated factor 1 319_320 apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity ovary(1)|pancreas(1) 2 GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526) CTCATTGGAGATTTTCTCAAGG 0.376 NA 45 143 --- --- --- --- NA NA NA NA PPAP2B 8613 broad.mit.edu 37 1 56990179 56990179 + Frame_Shift_Del DEL C C - TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr1:56990179delC uc001cyj.1 - 4 846 c.345delG c.(343-345)CGGfs p.R115fs NM_177414 NP_803133 O14495 LPP3_HUMAN phosphatidic acid phosphatase type 2B 115 Cytoplasmic (Potential). canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process adherens junction|Golgi apparatus|integral to membrane phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity 0 GAATCGTCGACCGCGACTTCT 0.483 NA 30 100 --- --- --- --- NA NA NA NA OR5P2 120065 broad.mit.edu 37 11 7817968 7817969 + Frame_Shift_Ins INS - - A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr11:7817968_7817969insA uc001mfp.1 - 1 521_522 c.521_522insT c.(520-522)TTCfs p.F174fs NM_153444 NP_703145 Q8WZ92 OR5P2_HUMAN olfactory receptor, family 5, subfamily P, 174 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(2)|central_nervous_system(1) 5 Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) CGAAATCACAGAAAAAATGATT 0.386 NA 31 73 --- --- --- --- NA NA NA NA RASGRP1 10125 broad.mit.edu 37 15 38794593 38794594 + Frame_Shift_Ins INS - - T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr15:38794593_38794594insT uc001zke.3 - 12 1635_1636 c.1457_1458insA c.(1456-1458)CAGfs p.Q486fs RASGRP1_uc010bbe.2_RNA|RASGRP1_uc010bbf.2_Frame_Shift_Ins_p.Q313fs|RASGRP1_uc010bbg.2_Frame_Shift_Ins_p.Q313fs|RASGRP1_uc001zkd.3_Frame_Shift_Ins_p.Q451fs NM_005739 NP_005730 O95267 GRP1_HUMAN RAS guanyl releasing protein 1 isoform a 486 1 (Potential).|EF-hand 1. cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding large_intestine(1)|ovary(1) 2 all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574) GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248) TGTATCCATCCTGGTCGTGATC 0.391 NA 17 29 --- --- --- --- NA NA NA NA ACSF2 80221 broad.mit.edu 37 17 48540530 48540531 + Frame_Shift_Ins INS - - C TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr17:48540530_48540531insC uc002iqu.2 + 7 910_911 c.806_807insC c.(805-807)AGCfs p.S269fs ACSF2_uc010wml.1_Frame_Shift_Ins_p.S226fs|ACSF2_uc010wmm.1_Frame_Shift_Ins_p.S294fs|ACSF2_uc010wmn.1_Frame_Shift_Ins_p.S256fs|ACSF2_uc010wmo.1_Frame_Shift_Ins_p.S109fs NM_025149 NP_079425 Q96CM8 ACSF2_HUMAN acyl-CoA synthetase family member 2 precursor 269 ATP (By similarity). fatty acid metabolic process mitochondrion ATP binding|ligase activity 0 Breast(11;1.93e-18) BRCA - Breast invasive adenocarcinoma(22;1.55e-09) ACAACAGGCAGCCCCAAGGGGG 0.53 NA 36 326 --- --- --- --- NA NA NA NA UGT1A1 54658 broad.mit.edu 37 2 234669681 234669682 + Frame_Shift_Ins INS - - GGACAGTCAC rs57307513 byFrequency TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr2:234669681_234669682insGGACAGTCAC uc002vvb.2 + 1 763_764 c.748_749insGGACAGTCAC c.(748-750)TCTfs p.S250fs UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Intron|UGT1A3_uc002vuy.2_Intron|UGT1A9_uc002vva.2_Intron|UGT1A1_uc010znc.1_Frame_Shift_Ins_p.S250fs NM_000463 NP_000454 P22309 UD11_HUMAN UDP glycosyltransferase 1 family, polypeptide A1 250 bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process endoplasmic reticulum membrane|microsome enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding central_nervous_system(1)|skin(1) 2 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054) Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197) CCTATTGAGCTCTGCATCTGTC 0.47 NA 24 280 --- --- --- --- NA NA NA NA SLC39A7 7922 broad.mit.edu 37 6 33171561 33171562 + Frame_Shift_Ins INS - - T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr6:33171561_33171562insT uc003odf.2 + 8 1498_1499 c.1381_1382insT c.(1381-1383)ATGfs p.M461fs RXRB_uc011dqr.1_5'Flank|SLC39A7_uc003odg.2_Frame_Shift_Ins_p.M461fs|SLC39A7_uc011dqv.1_Frame_Shift_Ins_p.M336fs|SLC39A7_uc003odh.2_Frame_Shift_Ins_p.M109fs|HSD17B8_uc003odi.1_5'Flank NM_001077516 NP_001070984 Q92504 S39A7_HUMAN solute carrier family 39, member 7 461 CALLTEGGAVGSEIAGGAGPGWVLPFTAGGFIYVATVSVLP ELLREASPLQSLLEVLGLLGGVIMMVLIAHLE -> VPFSL KEEQWTVKLQVVQVLAGSCHLLQVALST (in Ref. 1; BAA11528 and 2; AAD12305). endoplasmic reticulum membrane|integral to membrane|membrane fraction protein binding|zinc ion transmembrane transporter activity large_intestine(1) 1 GGGAGTTATCATGATGGTGCTG 0.569 NA 23 114 --- --- --- --- NA NA NA NA GPR115 221393 broad.mit.edu 37 6 47682289 47682290 + Frame_Shift_Ins INS - - T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr6:47682289_47682290insT uc003oza.1 + 6 1566_1567 c.1308_1309insT c.(1306-1311)TCATACfs p.S436fs GPR115_uc003oyz.1_Frame_Shift_Ins_p.S493fs|GPR115_uc003ozb.1_Frame_Shift_Ins_p.S434fs NM_153838 NP_722580 Q8IZF3 GP115_HUMAN G-protein coupled receptor 115 precursor 436_437 Cytoplasmic (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1) 8 CGGAGATATCATACATGCGTCA 0.485 NA 89 241 --- --- --- --- NA NA NA NA KLHL31 401265 broad.mit.edu 37 6 53516534 53516534 + Frame_Shift_Del DEL G G - TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr6:53516534delG uc003pcb.3 - 3 1908 c.1767delC c.(1765-1767)CCCfs p.P589fs uc003pcc.1_5'UTR NM_001003760 NP_001003760 Q9H511 KLH31_HUMAN kelch repeat and BTB (POZ) domain containing 1 589 Kelch 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent ovary(1) 1 Lung NSC(77;0.0158) CGTTGAGCTCGGGGCTGAAGC 0.652 NA OREG0017507 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 38 97 --- --- --- --- NA NA NA NA