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 ACTRT2 140625 broad.mit.edu 37 1 2938804 2938804 + Missense_Mutation SNP C C T TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr1:2938804C>T uc001ajz.2 + 1 759 c.554C>T c.(553-555)GCG>GTG p.A185V NM_080431 NP_536356 Q8TDY3 ACTT2_HUMAN actin-related protein M2 185 cytoplasm|cytoskeleton 0 all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909) all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125) CTCCACGTGGCGGGCAGGGAC 0.642 NA 12 79 0 0 0 0 KIF1B 23095 broad.mit.edu 37 1 10394634 10394634 + Missense_Mutation SNP C C T TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr1:10394634C>T uc001aqx.3 + 28 3183 c.2981C>T c.(2980-2982)GCC>GTC p.A994V KIF1B_uc001aqw.3_Missense_Mutation_p.A948V|KIF1B_uc001aqy.2_Missense_Mutation_p.A968V|KIF1B_uc001aqz.2_Missense_Mutation_p.A994V|KIF1B_uc001ara.2_Missense_Mutation_p.A954V|KIF1B_uc001arb.2_Missense_Mutation_p.A980V NM_015074 NP_055889 O60333 KIF1B_HUMAN kinesin family member 1B isoform b 994 anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding ovary(2)|upper_aerodigestive_tract(1) 3 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) CACAGGGTGGCCATCGTCAGT 0.517 NA 75 187 0 0 0 0 ZBTB17 7709 broad.mit.edu 37 1 16270105 16270105 + Missense_Mutation SNP C C T TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr1:16270105C>T uc001axl.3 - 11 1804 c.1565G>A c.(1564-1566)CGC>CAC p.R522H ZBTB17_uc010obq.1_Missense_Mutation_p.R439H|ZBTB17_uc010obr.1_Missense_Mutation_p.R522H|ZBTB17_uc010obs.1_Missense_Mutation_p.R446H NM_003443 NP_003434 Q13105 ZBT17_HUMAN zinc finger and BTB domain containing 17 522 C2H2-type 8. negative regulation of cell cycle nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649) TGTGTGAATGCGGACGTGCCG 0.662 NA 4 140 0 0 0 0 EPHB2 2048 broad.mit.edu 37 1 23191380 23191380 + Silent SNP C C T TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr1:23191380C>T uc009vqj.1 + 5 1123 c.978C>T c.(976-978)TCC>TCT p.S326S EPHB2_uc001bge.2_Silent_p.S326S|EPHB2_uc001bgf.2_Silent_p.S326S|EPHB2_uc010odu.1_Silent_p.S326S|hsa-mir-4253|MI0015860_5'Flank NM_017449 NP_059145 P29323 EPHB2_HUMAN ephrin receptor EphB2 isoform 1 precursor 326 Extracellular (Potential).|Fibronectin type-III 1. axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity ovary(3)|lung(1)|pancreas(1) 5 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) CCATCCCCTCCGCGCCCCAGG 0.652 NA Hereditary_Prostate_Cancer 16 116 0 0 0 0 COL8A2 1296 broad.mit.edu 37 1 36563712 36563712 + Missense_Mutation SNP G G A TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr1:36563712G>A uc001bzv.1 - 2 1577 c.1570C>T c.(1570-1572)CCC>TCC p.P524S COL8A2_uc001bzw.1_Missense_Mutation_p.P459S NM_005202 NP_005193 P25067 CO8A2_HUMAN collagen, type VIII, alpha 2 precursor 524 Triple-helical region. angiogenesis|cell-cell adhesion|extracellular matrix organization basement membrane|collagen extracellular matrix structural constituent|protein binding, bridging central_nervous_system(1) 1 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GGGGGCCCGGGAGGCCCCGGA 0.756 NA 6 4 0 0 0 0 B4GALT2 8704 broad.mit.edu 37 1 44451059 44451059 + Missense_Mutation SNP G G T TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr1:44451059G>T uc001clg.2 + 5 1220 c.850G>T c.(850-852)GAC>TAC p.D284Y B4GALT2_uc001clh.2_Missense_Mutation_p.D218Y|B4GALT2_uc010okl.1_Missense_Mutation_p.D313Y|B4GALT2_uc001cli.2_Missense_Mutation_p.D284Y NM_003780 NP_003771 O60909 B4GT2_HUMAN UDP-Gal:betaGlcNAc beta 1,4- 284 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) N-Acetyl-D-glucosamine(DB00141) CGAGGATGATGACATCTTCAA 0.597 NA 15 62 1.36e-06 1.44e-06 1 0 TAL1 6886 broad.mit.edu 37 1 47685565 47685565 + Missense_Mutation SNP C C T TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr1:47685565C>T uc001cqx.2 - 4 1400 c.823G>A c.(823-825)GCG>ACG p.A275T TAL1_uc009vyq.2_Silent_p.A31A|TAL1_uc001cqy.2_Missense_Mutation_p.A275T NM_003189 NP_003180 P17542 TAL1_HUMAN T-cell acute lymphocytic leukemia 1 275 basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter nuclear chromatin E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity lung(1) 1 TCTGGGGGCGCGccgccccct 0.582 NA T TRD@|SIL lymphoblastic leukemia/biphasic 16 16 0 0 0 0 FGGY 55277 broad.mit.edu 37 1 60139745 60139745 + Silent SNP C C A rs114601020 by1000genomes TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr1:60139745C>A uc001czi.3 + 14 1664 c.1452C>A c.(1450-1452)TCC>TCA p.S484S FGGY_uc001czh.2_RNA|FGGY_uc009wac.2_Silent_p.S508S|FGGY_uc001czj.3_Silent_p.S483S|FGGY_uc001czk.3_Silent_p.S372S|FGGY_uc001czl.3_Silent_p.S396S|FGGY_uc001czm.3_Silent_p.S185S NM_018291 NP_060761 Q96C11 FGGY_HUMAN FGGY carbohydrate kinase domain containing 484 carbohydrate metabolic process|cell death|neuron homeostasis kinase activity|phosphotransferase activity, alcohol group as acceptor ovary(1) 1 all_cancers(7;7.36e-05) AGGTGGAGTCCGTTCTTGTGG 0.612 NA 9 26 4.69e-08 5.01e-08 1 0 NBPF10 100132406 broad.mit.edu 37 1 145311785 145311785 + Splice_Site SNP C C G rs61816394 by1000genomes TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr1:145311785C>G uc001end.3 + 14 1889 c.1854_splice c.e14-1 p.R618_splice NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_5'Flank|NBPF10_uc010oyl.1_5'Flank|NBPF10_uc010oyj.1_5'Flank NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN hypothetical protein LOC100132406 0 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) TACTTTTCCACGCTCAGCAGG 0.453 NA 3 121 0 0 0 0 IGSF8 93185 broad.mit.edu 37 1 160062156 160062156 + Missense_Mutation SNP C C T TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr1:160062156C>T uc001fva.2 - 5 1687 c.1642G>A c.(1642-1644)GCC>ACC p.A548T IGSF8_uc001fuz.2_Missense_Mutation_p.A548T|IGSF8_uc009wtf.2_Missense_Mutation_p.A548T NM_052868 NP_443100 Q969P0 IGSF8_HUMAN immunoglobulin superfamily, member 8 548 Ig-like C2-type 4.|Extracellular (Potential). cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development integral to membrane protein binding 0 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) TGCACCCAGGCGCTGGGGGCA 0.647 NA 20 107 0 0 0 0 MRGPRX3 117195 broad.mit.edu 37 11 18159065 18159065 + Missense_Mutation SNP T T C TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr11:18159065T>C uc001mnu.2 + 3 677 c.316T>C c.(316-318)TAC>CAC p.Y106H NM_054031 NP_473372 Q96LB0 MRGX3_HUMAN MAS-related GPR, member X3 106 Helical; Name=3; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1)|pancreas(1) 2 GACCTTTCCCTACTTTATAGG 0.552 NA 44 230 0 0 0 0 HARBI1 283254 broad.mit.edu 37 11 46637146 46637146 + Silent SNP C C A TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr11:46637146C>A uc001ncy.2 - 2 890 c.642G>T c.(640-642)GCG>GCT p.A214A KIAA0652_uc009yld.2_5'Flank|KIAA0652_uc001nda.2_5'Flank|KIAA0652_uc001ndb.2_5'Flank|KIAA0652_uc001ncz.2_5'Flank|KIAA0652_uc001ndc.2_5'Flank|KIAA0652_uc010rgv.1_5'Flank NM_173811 NP_776172 Q96MB7 HARB1_HUMAN harbinger transposase derived 1 214 cytoplasm|nucleus metal ion binding|nuclease activity 0 TGTGCATACCCGCTTCAAACT 0.428 NA 37 215 3.75e-06 3.94e-06 1 0 MS4A10 341116 broad.mit.edu 37 11 60561573 60561573 + Silent SNP C C A TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr11:60561573C>A uc001npz.1 + 5 585 c.489C>A c.(487-489)TCC>TCA p.S163S NM_206893 NP_996776 Q96PG2 M4A10_HUMAN membrane-spanning 4-domains, subfamily A, member 163 Extracellular (Potential). integral to membrane receptor activity ovary(1)|skin(1) 2 ACCCCAACTCCACGGTGAGTA 0.567 NA 4 159 0.00909568 0.00919348 1 0 NOP2 4839 broad.mit.edu 37 12 6666429 6666429 + Silent SNP T T A TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr12:6666429T>A uc001qph.1 - 16 2337 c.2157A>T c.(2155-2157)ACA>ACT p.T719T IFFO1_uc001qpe.1_5'Flank|IFFO1_uc010sfe.1_5'Flank|IFFO1_uc001qpf.1_5'Flank|IFFO1_uc001qpc.1_5'Flank|IFFO1_uc001qpd.1_5'Flank|NOP2_uc009zeq.1_3'UTR|NOP2_uc001qpi.1_Silent_p.T719T|NOP2_uc001qpj.1_Silent_p.T148T NM_001033714 NP_001028886 P46087 NOP2_HUMAN nucleolar protein 1, 120kDa 723 positive regulation of cell proliferation|rRNA processing nucleolus protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity ovary(2) 2 TTTGTGTGTCTGTGCCCTTGG 0.537 NA 62 436 0 0 0 0 SOX5 6660 broad.mit.edu 37 12 23689485 23689485 + Missense_Mutation SNP C C A TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr12:23689485C>A uc001rfw.2 - 14 1992 c.1890G>T c.(1888-1890)AAG>AAT p.K630N SOX5_uc001rfx.2_Missense_Mutation_p.K617N|SOX5_uc001rfy.2_Missense_Mutation_p.K509N|SOX5_uc001rfv.2_Missense_Mutation_p.K244N|SOX5_uc010siv.1_Missense_Mutation_p.K617N|SOX5_uc010siw.1_RNA NM_006940 NP_008871 P35711 SOX5_HUMAN SRY (sex determining region Y)-box 5 isoform a 630 transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(5)|lung(1) 6 GGCAGGTGCGCTTTGGCCTGG 0.517 NA 33 136 1.22e-17 1.34e-17 1 0 MLL2 8085 broad.mit.edu 37 12 49425421 49425421 + Missense_Mutation SNP C C T TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr12:49425421C>T uc001rta.3 - 39 13067 c.13067G>A c.(13066-13068)GGG>GAG p.G4356E NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 4356 Pro-rich. 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 TGAGACCCTCCCAGGAGGCGG 0.622 NA N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 3 26 0 0 0 0 NAB2 4665 broad.mit.edu 37 12 57485446 57485446 + Missense_Mutation SNP T T C TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr12:57485446T>C uc001smz.2 + 2 1000 c.622T>C c.(622-624)TTC>CTC p.F208L NM_005967 NP_005958 Q15742 NAB2_HUMAN NGFI-A binding protein 2 208 cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent nucleus transcription corepressor activity upper_aerodigestive_tract(1)|ovary(1) 2 CTCGCCCCCCTTCTCCCCCCC 0.716 NA 4 34 0 0 0 0 PTPRB 5787 broad.mit.edu 37 12 70956847 70956847 + Silent SNP G G A TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr12:70956847G>A uc001swb.3 - 14 3321 c.3291C>T c.(3289-3291)TCC>TCT p.S1097S PTPRB_uc010sto.1_Silent_p.S1007S|PTPRB_uc010stp.1_Silent_p.S1007S|PTPRB_uc001swc.3_Silent_p.S1315S|PTPRB_uc001swa.3_Silent_p.S1227S|PTPRB_uc001swd.3_Silent_p.S1314S|PTPRB_uc009zrr.1_Silent_p.S1194S NM_002837 NP_002828 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1097 Fibronectin type-III 13.|Extracellular (Potential). angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(2)|skin(1) 3 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) GGTGCCTGGTGGAGTTCTCTG 0.562 NA 4 47 0 0 0 0 ACACB 32 broad.mit.edu 37 12 109610133 109610133 + Silent SNP G G A TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr12:109610133G>A uc001tob.2 + 6 1208 c.1089G>A c.(1087-1089)CTG>CTA p.L363L ACACB_uc001toc.2_Silent_p.L363L NM_001093 NP_001084 O00763 ACACB_HUMAN acetyl-Coenzyme A carboxylase beta 363 Biotin carboxylation. acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 8 Biotin(DB00121) TTCCGGAGCTGCTGTGCAAGA 0.512 NA 127 300 0 0 0 0 USPL1 10208 broad.mit.edu 37 13 31205139 31205139 + Silent SNP C C T TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr13:31205139C>T uc001utc.2 + 4 828 c.396C>T c.(394-396)GAC>GAT p.D132D USPL1_uc001utb.2_Translation_Start_Site|USPL1_uc001utd.2_Intron NM_005800 NP_005791 Q5W0Q7 USPL1_HUMAN ubiquitin specific peptidase like 1 132 ubiquitin-dependent protein catabolic process ubiquitin thiolesterase activity pancreas(2)|skin(1) 3 Lung SC(185;0.0257)|Breast(139;0.203) all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134) TTGCTATTGACGGTGGAAAAG 0.368 NA 24 49 0 0 0 0 LCP1 3936 broad.mit.edu 37 13 46701815 46701815 + Missense_Mutation SNP C C G TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr13:46701815C>G uc001vaz.3 - 16 1921 c.1795G>C c.(1795-1797)GCC>CCC p.A599P LCP1_uc010ack.2_Missense_Mutation_p.A168P|LCP1_uc001vay.3_Missense_Mutation_p.A196P|LCP1_uc001vba.3_Missense_Mutation_p.A599P NM_002298 NP_002289 P13796 PLSL_HUMAN L-plastin 599 Actin-binding 2.|CH 4. regulation of intracellular protein transport|T cell activation involved in immune response cell junction|cytosol|ruffle membrane calcium ion binding lung(4)|ovary(3) 7 Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;5.39e-05) TCTGGCAGGGCATACACTCTT 0.488 NA T BCL6 NHL 10 294 0 0 0 0 TEP1 7011 broad.mit.edu 37 14 20854732 20854732 + Missense_Mutation SNP C C T TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr14:20854732C>T uc001vxe.2 - 19 2775 c.2735G>A c.(2734-2736)GGG>GAG p.G912E TEP1_uc010ahk.2_Missense_Mutation_p.G262E|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.G804E NM_007110 NP_009041 Q99973 TEP1_HUMAN telomerase-associated protein 1 912 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding ovary(5) 5 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) GTCCCGCTCCCCATGCATGTC 0.622 NA 9 28 0 0 0 0 BCL11B 64919 broad.mit.edu 37 14 99641386 99641386 + Missense_Mutation SNP C C T TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr14:99641386C>T uc001yga.2 - 4 2054 c.1787G>A c.(1786-1788)GGC>GAC p.G596D BCL11B_uc001ygb.2_Missense_Mutation_p.G525D NM_138576 NP_612808 Q9C0K0 BC11B_HUMAN B-cell CLL/lymphoma 11B isoform 1 596 Gly-rich. nucleus zinc ion binding central_nervous_system(8)|large_intestine(1)|lung(1) 10 Melanoma(154;0.0866)|all_epithelial(191;0.241) COAD - Colon adenocarcinoma(157;0.103) CATGACCTTGCCCAGCACCAG 0.542 NA T TLX3 T-ALL 9 61 0 0 0 0 LINS1 55180 broad.mit.edu 37 15 101120660 101120660 + Missense_Mutation SNP C C A TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr15:101120660C>A uc002bwe.2 - 3 679 c.388G>T c.(388-390)GAT>TAT p.D130Y LINS1_uc002bwf.2_Missense_Mutation_p.D130Y|LINS1_uc002bwg.2_Missense_Mutation_p.D130Y|LINS1_uc002bwh.2_Missense_Mutation_p.D130Y|LINS1_uc010usa.1_Intron|LINS1_uc002bwi.2_Missense_Mutation_p.D130Y NM_001040614 NP_001035704 Q8NG48 LINES_HUMAN lines homolog 1 130 0 Lung NSC(78;0.0018)|all_lung(78;0.00223)|Melanoma(26;0.00852) OV - Ovarian serous cystadenocarcinoma(32;0.00095)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103) AATTTAGAATCGACTTTGGCT 0.313 NA 13 81 9.05e-12 9.84e-12 1 0 ARMC5 79798 broad.mit.edu 37 16 31477726 31477726 + Missense_Mutation SNP G G A TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr16:31477726G>A uc002ecc.2 + 6 2853 c.2324G>A c.(2323-2325)CGG>CAG p.R775Q ARMC5_uc010vfn.1_Missense_Mutation_p.R870Q|ARMC5_uc010vfo.1_Missense_Mutation_p.R807Q|ARMC5_uc002eca.3_3'UTR|ARMC5_uc010vfp.1_Missense_Mutation_p.R583Q|ARMC5_uc002ecb.2_3'UTR NM_001105247 NP_001098717 Q96C12 ARMC5_HUMAN armadillo repeat containing 5 isoform a 775 BTB. binding pancreas(1) 1 CCTTTCTTCCGGGCCCTGCTG 0.667 NA 8 30 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7578427 7578427 + Missense_Mutation SNP T T A TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr17:7578427T>A uc002gim.2 - 5 697 c.503A>T c.(502-504)CAC>CTC p.H168L TP53_uc002gig.1_Missense_Mutation_p.H168L|TP53_uc002gih.2_Missense_Mutation_p.H168L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.H36L|TP53_uc010cng.1_Missense_Mutation_p.H36L|TP53_uc002gii.1_Missense_Mutation_p.H36L|TP53_uc010cnh.1_Missense_Mutation_p.H168L|TP53_uc010cni.1_Missense_Mutation_p.H168L|TP53_uc002gij.2_Missense_Mutation_p.H168L|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.H75L|TP53_uc002gio.2_Missense_Mutation_p.H36L|TP53_uc010vug.1_Missense_Mutation_p.H129L NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 168 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). QH -> HD (in a sporadic cancer; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|HM -> LI (in a sporadic cancer; somatic mutation).|QH -> YL (in a sporadic cancer; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> V (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|H -> R (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> 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.H168R(12)|p.H168P(9)|p.H168Y(9)|p.0?(7)|p.H168L(5)|p.H168H(4)|p.H168fs*2(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.Y163fs*1(1)|p.P151_V173del23(1)|p.S149fs*72(1)|p.H168_M169>LI(1)|p.H168fs*13(1)|p.H168fs*5(1)|p.H168Q(1)|p.H168fs*69(1)|p.Q167fs*12(1)|p.H168D(1)|p.Q167_H168>HD(1)|p.H168N(1)|p.Q167_H168>YL(1)|p.H168fs*3(1)|p.H168fs*4(1)|p.Q165_M169delQSQHM(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) CTCCGTCATGTGCTGTGACTG 0.652 111 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) 11 48 0 0 0 0 MFSD6L 162387 broad.mit.edu 37 17 8701070 8701070 + Missense_Mutation SNP C C T TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr17:8701070C>T uc002glp.1 - 1 1517 c.1369G>A c.(1369-1371)GTC>ATC p.V457I NM_152599 NP_689812 Q8IWD5 MFS6L_HUMAN major facilitator superfamily domain containing 457 Helical; (Potential). integral to membrane central_nervous_system(1) 1 ATGGGGAGGACGGACCACCAG 0.612 NA 35 128 0 0 0 0 TTC25 83538 broad.mit.edu 37 17 40117329 40117329 + Missense_Mutation SNP C C T TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr17:40117329C>T uc002hyj.3 + 11 1936 c.1847C>T c.(1846-1848)TCG>TTG p.S616L TTC25_uc010cxt.2_RNA|CNP_uc002hyk.1_5'Flank|CNP_uc002hyl.1_5'Flank|CNP_uc010wfz.1_5'Flank|CNP_uc002hym.1_5'Flank|CNP_uc010wga.1_5'Flank NM_031421 NP_113609 Q96NG3 TTC25_HUMAN tetratricopeptide repeat domain 25 616 cytoplasm protein binding ovary(1) 1 all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236) AGGAGGCCTTCGGGAGAATTA 0.463 NA 7 30 0 0 0 0 ENPP7 339221 broad.mit.edu 37 17 77711840 77711840 + Missense_Mutation SNP G G A TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr17:77711840G>A uc002jxa.2 + 5 1392 c.1372G>A c.(1372-1374)GCA>ACA p.A458T NM_178543 NP_848638 Q6UWV6 ENPP7_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 458 negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process Golgi apparatus|integral to membrane|microvillus sphingomyelin phosphodiesterase activity central_nervous_system(2)|ovary(1) 3 OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224) GTCTGAGGTCGCATAACGCCC 0.642 NA 5 195 0 0 0 0 MYOM1 8736 broad.mit.edu 37 18 3215034 3215034 + Missense_Mutation SNP C C T TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr18:3215034C>T uc002klp.2 - 2 522 c.188G>A c.(187-189)CGG>CAG p.R63Q MYOM1_uc002klq.2_Missense_Mutation_p.R63Q NM_003803 NP_003794 P52179 MYOM1_HUMAN myomesin 1 isoform a 63 striated muscle myosin thick filament structural constituent of muscle ovary(3)|central_nervous_system(1)|pancreas(1) 5 GGCGGACGCCCGACGGAAGGC 0.687 NA 11 33 0 0 0 0 POTEC 388468 broad.mit.edu 37 18 14513764 14513764 + Missense_Mutation SNP C C T TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr18:14513764C>T uc010dln.2 - 10 1884 c.1430G>A c.(1429-1431)CGG>CAG p.R477Q POTEC_uc010xaj.1_RNA NM_001137671 NP_001131143 B2RU33 POTEC_HUMAN ANKRD26-like family B, member 2 477 skin(3) 3 AAGTTGTTTCCGGGTATCATT 0.358 NA 3 86 0 0 0 0 LMNB2 84823 broad.mit.edu 37 19 2434446 2434446 + Missense_Mutation SNP C C T TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr19:2434446C>T uc002lvy.2 - 7 1076 c.989G>A c.(988-990)CGG>CAG p.R330Q LMNB2_uc002lwa.1_Missense_Mutation_p.R350Q NM_032737 NP_116126 Q03252 LMNB2_HUMAN lamin B2 330 Rod.|Coil 2. nuclear inner membrane structural molecule activity large_intestine(1)|ovary(1) 2 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CAGCATCTTCCGGAACTTGTC 0.667 NA 6 77 0 0 0 0 ZNF844 284391 broad.mit.edu 37 19 12187443 12187443 + Missense_Mutation SNP C C G TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr19:12187443C>G uc002mtb.2 + 4 1651 c.1508C>G c.(1507-1509)CCT>CGT p.P503R ZNF844_uc010dym.1_Missense_Mutation_p.P346R NM_001136501 NP_001129973 Q08AG5 ZN844_HUMAN zinc finger protein 844 503 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GAGAGAAACCCTATGAGTGTA 0.413 NA 3 100 0 0 0 0 ZNF676 163223 broad.mit.edu 37 19 22362786 22362786 + Missense_Mutation SNP T T A TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr19:22362786T>A uc002nqs.1 - 3 2051 c.1733A>T c.(1732-1734)TAT>TTT p.Y578F NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 578 C2H2-type 15. 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) TTTCTTATGATAACTAACAGT 0.353 NA 14 98 0 0 0 0 GFPT1 2673 broad.mit.edu 37 2 69556851 69556851 + Missense_Mutation SNP C C T TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr2:69556851C>T uc002sfh.2 - 15 1687 c.1508G>A c.(1507-1509)CGC>CAC p.R503H NM_002056 NP_002047 Q06210 GFPT1_HUMAN glucosamine-fructose-6-phosphate 521 dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding skin(1) 1 GATCTCTTTGCGTCTTTCTTG 0.408 NA 30 117 0 0 0 0 TXNDC9 10190 broad.mit.edu 37 2 99949494 99949494 + Silent SNP C C T TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr2:99949494C>T uc002szz.2 - 2 371 c.180G>A c.(178-180)CAG>CAA p.Q60Q TXNDC9_uc010yvp.1_Silent_p.Q77Q|TXNDC9_uc002taa.1_Silent_p.Q60Q NM_005783 NP_005774 O14530 TXND9_HUMAN thioredoxin domain containing 9 60 cell redox homeostasis protein binding 0 CTTGTTTCTGCTGTTGAGCTT 0.388 NA 42 143 0 0 0 0 MKI67IP 84365 broad.mit.edu 37 2 122485367 122485367 + Missense_Mutation SNP T T A TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr2:122485367T>A uc002tnk.2 - 7 892 c.815A>T c.(814-816)GAA>GTA p.E272V uc002tnj.1_Intron NM_032390 NP_115766 Q9BYG3 MK67I_HUMAN MKI67 interacting nucleolar phosphoprotein 272 protein complex assembly|rRNA metabolic process|rRNA transcription condensed nuclear chromosome|cytoplasm|nucleolus|nucleoplasm nucleotide binding|protein binding|RNA binding 0 TTGTATTTCTTCTTTTACACA 0.323 NA 32 151 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179399515 179399515 + Nonsense_Mutation SNP C C A TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr2:179399515C>A uc010zfg.1 - 307 94347 c.94123G>T c.(94123-94125)GAA>TAA p.E31375* uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Nonsense_Mutation_p.E25070*|TTN_uc010zfi.1_Nonsense_Mutation_p.E25003*|TTN_uc010zfj.1_Nonsense_Mutation_p.E24878* NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 32302 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATGATATTTTCTGGTCTAATG 0.368 NA 48 63 2.13e-23 2.37e-23 1 0 GZF1 64412 broad.mit.edu 37 20 23350773 23350773 + Missense_Mutation SNP G G A TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr20:23350773G>A uc010gdb.2 + 7 2005 c.1831G>A c.(1831-1833)GAT>AAT p.D611N GZF1_uc002wsy.2_Missense_Mutation_p.D611N|GZF1_uc010zsq.1_Missense_Mutation_p.D135N|GZF1_uc010zsr.1_Missense_Mutation_p.D120N|GZF1_uc002wsz.2_Missense_Mutation_p.D611N NM_022482 NP_071927 Q9H116 GZF1_HUMAN GDNF-inducible zinc finger protein 1 611 transcription, DNA-dependent nucleolus|nucleoplasm sequence-specific DNA binding|zinc ion binding kidney(1) 1 Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135) TGTCATTGTAGATGGCTCGCC 0.418 NA 30 67 0 0 0 0 FAM193A 8603 broad.mit.edu 37 4 2641515 2641515 + Silent SNP C C T TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr4:2641515C>T uc010icl.2 + 4 570 c.219C>T c.(217-219)CAC>CAT p.H73H FAM193A_uc010ick.2_Silent_p.H273H|FAM193A_uc003gfd.2_Silent_p.H73H|FAM193A_uc011bvm.1_Silent_p.H73H|FAM193A_uc011bvn.1_Silent_p.H73H|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_RNA NM_003704 NP_003695 P78312 F193A_HUMAN hypothetical protein LOC8603 73 ovary(3) 3 ATAATAAACACCTGTTTGAAA 0.398 NA 20 86 0 0 0 0 PROM1 8842 broad.mit.edu 37 4 16035066 16035066 + Missense_Mutation SNP G G A TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr4:16035066G>A uc003goo.2 - 4 582 c.370C>T c.(370-372)CCT>TCT p.P124S PROM1_uc003gor.2_Missense_Mutation_p.P124S|PROM1_uc003gos.2_Missense_Mutation_p.P115S|PROM1_uc003got.2_Missense_Mutation_p.P124S|PROM1_uc003gou.2_Missense_Mutation_p.P115S|PROM1_uc003gop.2_Missense_Mutation_p.P115S|PROM1_uc003goq.3_Missense_Mutation_p.P115S|PROM1_uc010iec.1_Missense_Mutation_p.P2S NM_006017 NP_006008 O43490 PROM1_HUMAN prominin 1 isoform 1 124 Helical; (Potential). camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane beta-actinin binding|cadherin binding ovary(3)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)|central_nervous_system(1) 7 CCCACCAGAGGCATCAGAATA 0.428 NA 7 35 0 0 0 0 EPHA5 2044 broad.mit.edu 37 4 66270139 66270139 + Silent SNP C C T TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr4:66270139C>T uc003hcy.2 - 8 1936 c.1743G>A c.(1741-1743)GTG>GTA p.V581V EPHA5_uc003hcx.2_Silent_p.V513V|EPHA5_uc003hcz.2_Silent_p.V581V|EPHA5_uc011cah.1_Silent_p.V582V|EPHA5_uc011cai.1_Silent_p.V582V|EPHA5_uc003hda.2_Silent_p.V582V NM_004439 NP_004430 P54756 EPHA5_HUMAN ephrin receptor EphA5 isoform a precursor 581 Helical; (Potential). cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity lung(19)|stomach(2)|ovary(2)|central_nervous_system(1) 24 AAATGACTCCCACTGTCACAG 0.473 NA TSP Lung(17;0.13) 10 100 0 0 0 0 GC 2638 broad.mit.edu 37 4 72618359 72618359 + Missense_Mutation SNP T T C TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr4:72618359T>C uc003hge.2 - 11 1424 c.1271A>G c.(1270-1272)GAG>GGG p.E424G GC_uc003hgd.2_Missense_Mutation_p.E302G|GC_uc010iie.2_Missense_Mutation_p.E424G|GC_uc010iif.2_Missense_Mutation_p.E443G NM_000583 NP_000574 P02774 VTDB_HUMAN vitamin D-binding protein precursor 424 Albumin 3. hormone biosynthetic process|vitamin D metabolic process cytosol|lysosomal lumen actin binding|vitamin D binding|vitamin transporter activity ovary(2)|upper_aerodigestive_tract(1) 3 all_hematologic(202;0.107) Lung(101;0.148) Cholecalciferol(DB00169) TTTTAGTCGCTCTGCCAGTCT 0.373 NA 18 157 0 0 0 0 SHROOM3 57619 broad.mit.edu 37 4 77675899 77675899 + Silent SNP G G A TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr4:77675899G>A uc011cbx.1 + 7 5216 c.4263G>A c.(4261-4263)TCG>TCA p.S1421S SHROOM3_uc003hkg.2_Silent_p.S1199S NM_020859 NP_065910 Q8TF72 SHRM3_HUMAN shroom family member 3 protein 1421 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding skin(2)|ovary(1) 3 Lung(101;0.0903) AGAGGGTCTCGCTGCCTCAGT 0.607 NA 13 61 0 0 0 0 FAT1 2195 broad.mit.edu 37 4 187518256 187518256 + Silent SNP G G A TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr4:187518256G>A uc003izf.2 - 25 12626 c.12438C>T c.(12436-12438)CAC>CAT p.H4146H FAT1_uc010isn.2_5'Flank|FAT1_uc003ize.2_Silent_p.H37H NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 4146 Extracellular (Potential).|EGF-like 5; calcium-binding (Potential). actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 GATAGGAGCCGTGCGTGTTCT 0.587 NA HNSCC(5;0.00058) 10 50 0 0 0 0 KIF4B 285643 broad.mit.edu 37 5 154394335 154394335 + Missense_Mutation SNP C C G TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr5:154394335C>G uc010jih.1 + 1 1076 c.916C>G c.(916-918)CAC>GAC p.H306D NM_001099293 NP_001092763 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 306 Kinesin-motor. axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity ovary(1) 1 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) AGGTAACAGCCACACTCTTAT 0.438 NA 57 175 0 0 0 0 EXOC2 55770 broad.mit.edu 37 6 564672 564672 + Missense_Mutation SNP C C T TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr6:564672C>T uc003mtd.2 - 15 1674 c.1540G>A c.(1540-1542)GTG>ATG p.V514M EXOC2_uc003mte.2_Missense_Mutation_p.V514M|EXOC2_uc011dho.1_Missense_Mutation_p.V109M NM_018303 NP_060773 Q96KP1 EXOC2_HUMAN Sec5 protein 514 exocytosis|protein transport breast(4)|ovary(2)|pancreas(1) 7 Ovarian(93;0.0733) Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897) OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14) GTAAGCTTCACCAGGGAGTGC 0.507 NA 16 94 0 0 0 0 PKHD1 5314 broad.mit.edu 37 6 51927390 51927390 + Missense_Mutation SNP C C T TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr6:51927390C>T uc003pah.1 - 14 1321 c.1045G>A c.(1045-1047)GGG>AGG p.G349R PKHD1_uc003pai.2_Missense_Mutation_p.G349R NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 349 Extracellular (Potential). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) CACCTGTACCCTGGGGTGGCT 0.478 NA 44 209 0 0 0 0 ENPP3 5169 broad.mit.edu 37 6 132006590 132006590 + Missense_Mutation SNP G G T TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr6:132006590G>T uc003qcu.3 + 14 1554 c.1207G>T c.(1207-1209)GCC>TCC p.A403S ENPP3_uc010kfq.2_RNA|ENPP3_uc003qcv.2_Missense_Mutation_p.A403S NM_005021 NP_005012 O14638 ENPP3_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 403 Extracellular (Potential).|Phosphodiesterase. immune response|nucleoside triphosphate catabolic process|phosphate metabolic process extracellular region|integral to plasma membrane|perinuclear region of cytoplasm metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity ovary(3)|skin(1) 4 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511) CGAAGGGCCTGCCCCCCGCAT 0.363 NA 51 269 2.42e-19 2.66e-19 1 0 SYNE1 23345 broad.mit.edu 37 6 152660381 152660381 + Missense_Mutation SNP G G T TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr6:152660381G>T uc010kiw.2 - 75 12948 c.12346C>A c.(12346-12348)CAA>AAA p.Q4116K SYNE1_uc003qot.3_Missense_Mutation_p.Q4045K|SYNE1_uc003qou.3_Missense_Mutation_p.Q4116K|SYNE1_uc010kja.1_Missense_Mutation_p.Q821K NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 4116 Potential.|Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CTTACCGTTTGCTCTGTTTGT 0.378 NA HNSCC(10;0.0054) 32 70 2e-19 2.21e-19 1 0 RBAK 57786 broad.mit.edu 37 7 5104738 5104738 + Silent SNP T T C TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr7:5104738T>C uc010kss.1 + 6 1975 c.1651T>C c.(1651-1653)TTG>CTG p.L551L LOC389458_uc003snr.2_Intron|RBAK_uc003sns.1_Silent_p.L551L NM_021163 NP_066986 Q9NYW8 RBAK_HUMAN RB-associated KRAB repressor 551 Interaction with AR.|C2H2-type 11. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding ovary(3)|kidney(1)|skin(1) 5 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14) ATTCAATGAGTTGTCATACTA 0.388 NA 16 112 0 0 0 0 RNF216 54476 broad.mit.edu 37 7 5662726 5662726 + Missense_Mutation SNP G G A TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr7:5662726G>A uc003soy.1 - 17 2556 c.2366C>T c.(2365-2367)CCG>CTG p.P789L RNF216_uc010ksz.1_Missense_Mutation_p.P411L|RNF216_uc010kta.1_Missense_Mutation_p.P411L|RNF216_uc011jwj.1_Missense_Mutation_p.P411L|RNF216_uc003sox.1_Missense_Mutation_p.P846L NM_207116 NP_996999 Q9NWF9 RN216_HUMAN ring finger protein 216 isoform b 789 Pro-rich. apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production cytoplasm|nucleus|nucleus ligase activity|protein binding|protein binding|zinc ion binding ovary(3)|breast(2) 5 Ovarian(82;0.07) UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13) CAGGTTCTGCGGAACGGGCCT 0.627 NA 13 75 0 0 0 0 SRRT 51593 broad.mit.edu 37 7 100484755 100484755 + Missense_Mutation SNP C C T TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr7:100484755C>T uc003uwy.2 + 16 2177 c.1909C>T c.(1909-1911)CCC>TCC p.P637S SRRT_uc010lhl.1_Missense_Mutation_p.P636S|SRRT_uc003uxa.2_Missense_Mutation_p.P636S|SRRT_uc003uwz.2_Missense_Mutation_p.P637S NM_015908 NP_056992 Q9BXP5 SRRT_HUMAN arsenate resistance protein 2 isoform a 637 cell proliferation|primary miRNA processing|response to arsenic-containing substance cytoplasm|nucleoplasm protein binding ovary(2) 2 GGACGAGATGCCCAATCGCTG 0.572 NA 5 283 0 0 0 0 CHD7 55636 broad.mit.edu 37 8 61765872 61765872 + Silent SNP C C T TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr8:61765872C>T uc003xue.2 + 31 7065 c.6588C>T c.(6586-6588)ACC>ACT p.T2196T NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 2196 Glu-rich. central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1) 9 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) AAGAAGAAACCGATGGCAGCG 0.532 NA 8 60 0 0 0 0 DCAF4L2 138009 broad.mit.edu 37 8 88885104 88885104 + Missense_Mutation SNP C C T TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr8:88885104C>T uc003ydz.2 - 1 1193 c.1096G>A c.(1096-1098)GTG>ATG p.V366M NM_152418 NP_689631 Q8NA75 DC4L2_HUMAN WD repeat domain 21C 366 ovary(1) 1 GAGAAGGCCACACTGGGAATG 0.592 NA 19 183 0 0 0 0 KIAA1539 80256 broad.mit.edu 37 9 35107972 35107972 + Silent SNP C C T TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr9:35107972C>T uc003zwl.2 - 3 625 c.300G>A c.(298-300)GGG>GGA p.G100G KIAA1539_uc003zwm.2_Silent_p.G100G|KIAA1539_uc003zwn.2_Intron|KIAA1539_uc003zwo.2_Silent_p.G100G|KIAA1539_uc003zwp.1_Silent_p.G100G|KIAA1539_uc010mkk.1_Intron NM_025182 NP_079458 Q7L5A3 K1539_HUMAN hypothetical protein LOC80256 100 nucleus ovary(2) 2 all_epithelial(49;0.217) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) GGCCTAAGAGCCCCACAGTAG 0.622 NA 21 234 0 0 0 0 ZNF883 169834 broad.mit.edu 37 9 115759475 115759475 + Silent SNP A A G TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr9:115759475A>G uc011lwy.1 - 5 2304 c.1065T>C c.(1063-1065)GGT>GGC p.G355G NM_001101338 NP_001094808 P0CG24 ZN883_HUMAN hypothetical protein LOC169834 355 C2H2-type 13. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AAAAGACATCACCACACTTAG 0.398 NA 11 69 0 0 0 0 COBRA1 25920 broad.mit.edu 37 9 140161436 140161436 + Missense_Mutation SNP C C T TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr9:140161436C>T uc004cmm.3 + 9 1339 c.1136C>T c.(1135-1137)TCC>TTC p.S379F NM_015456 NP_056271 Q8WX92 NELFB_HUMAN cofactor of BRCA1 379 negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction cytoplasm|nucleoplasm protein binding 0 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.137) OV - Ovarian serous cystadenocarcinoma(145;9.42e-05)|Epithelial(140;0.000766) ATGCTCATGTCCTTCCTGGTG 0.587 NA 12 65 0 0 0 0 KIAA0467 23334 broad.mit.edu 37 1 43900933 43900933 + Frame_Shift_Del DEL T T - TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr1:43900933delT uc001cjk.1 + 27 3732 c.3270delT c.(3268-3270)AGTfs p.S1090fs NM_015284 NP_056099 Q5T011 SZT2_HUMAN hypothetical protein LOC23334 1989 peroxisome 0 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) TGGCCGAGAGTGAAGAAGATC 0.572 NA 16 138 --- --- --- --- NA NA NA NA KIF18B 146909 broad.mit.edu 37 17 43012716 43012719 + Frame_Shift_Del DEL TGCC TGCC - TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr17:43012716_43012719delTGCC uc010wji.1 - 3 480_483 c.379_382delGGCA c.(379-384)GGCATCfs p.G127fs KIF18B_uc002iht.2_Frame_Shift_Del_p.G127fs|KIF18B_uc010wjh.1_Frame_Shift_Del_p.G127fs NM_001080443 NP_001073912 kinesin family member 18B ovary(2) 2 Prostate(33;0.155) AGGTACATGATGCCGGGGTCCCCC 0.637 NA 9 58 --- --- --- --- NA NA NA NA ZNF611 81856 broad.mit.edu 37 19 53208627 53208638 + In_Frame_Del DEL TATGAATTCTAG TATGAATTCTAG - rs151210254 by1000genomes TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr19:53208627_53208638delTATGAATTCTAG uc002pzz.2 - 7 1987_1998 c.1670_1681delCTAGAATTCATA c.(1669-1683)ACTAGAATTCATAGT>AGT p.TRIH557del ZNF611_uc010eqc.2_In_Frame_Del_p.TRIH487del|ZNF611_uc010ydo.1_In_Frame_Del_p.TRIH487del|ZNF611_uc010ydr.1_In_Frame_Del_p.TRIH488del|ZNF611_uc010ydp.1_In_Frame_Del_p.TRIH557del|ZNF611_uc010ydq.1_In_Frame_Del_p.TRIH557del|ZNF611_uc002qaa.3_In_Frame_Del_p.TRIH487del NM_030972 NP_112234 Q8N823 ZN611_HUMAN zinc finger protein 611 isoform a 557_560 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04) TTCTCTCCACTATGAATTCTAGTATGTTTTGC 0.406 NA 62 403 --- --- --- --- NA NA NA NA DEFB118 117285 broad.mit.edu 37 20 29960672 29960672 + Frame_Shift_Del DEL A A - TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr20:29960672delA uc002wvr.2 + 2 97 c.71delA c.(70-72)GAAfs p.E24fs NM_054112 NP_473453 Q96PH6 DB118_HUMAN beta-defensin 118 precursor 24 cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis extracellular region ovary(3)|pancreas(1) 4 all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) TATAGTGGTGAAAAAAAATGC 0.398 NA 15 70 --- --- --- --- NA NA NA NA