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 KLHL17 339451 broad.mit.edu 37 1 896822 896822 + Missense_Mutation SNP G G A TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr1:896822G>A uc001aca.1 + 2 364 c.257G>A c.(256-258)CGC>CAC p.R86H NOC2L_uc001aby.3_5'Flank|NOC2L_uc001abz.3_5'Flank|NOC2L_uc009vjq.2_5'Flank|NOC2L_uc009vjr.1_5'Flank|KLHL17_uc001acb.1_5'Flank|KLHL17_uc010nya.1_5'Flank|KLHL17_uc001acc.1_5'Flank|KLHL17_uc010nyb.1_5'Flank NM_198317 NP_938073 Q6TDP4 KLH17_HUMAN kelch-like 17 86 actin cytoskeleton organization actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane protein complex scaffold 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) AGCCGCATGCGCCAGCGCGGC 0.672 NA 5 28 0 0 0 0 SDF4 51150 broad.mit.edu 37 1 1152946 1152946 + Silent SNP G G A TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr1:1152946G>A uc001adh.3 - 7 1364 c.1035C>T c.(1033-1035)TTC>TTT p.F345F SDF4_uc001adg.2_RNA|SDF4_uc001adi.3_3'UTR|SDF4_uc009vjv.2_Silent_p.F223F|SDF4_uc009vjw.2_RNA NM_016176 NP_057260 Q9BRK5 CAB45_HUMAN stromal cell derived factor 4 isoform 2 345 Necessary for intracellular retention in Golgi apparatus lumen (By similarity).|EF-hand 6. cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis bleb|Golgi lumen|late endosome|soluble fraction calcium ion binding|calcium ion binding|identical protein binding|protein binding upper_aerodigestive_tract(1)|large_intestine(1) 2 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204) TGCCCGTGAAGAACTCGCTGT 0.537 NA 11 57 0 0 0 0 ACAP3 116983 broad.mit.edu 37 1 1235353 1235353 + Missense_Mutation SNP C C G TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr1:1235353C>G uc001aeb.2 - 8 737 c.663G>C c.(661-663)GAG>GAC p.E221D ACAP3_uc001ady.2_5'Flank|ACAP3_uc001aea.2_Missense_Mutation_p.E179D|ACAP3_uc001aec.1_Missense_Mutation_p.E179D NM_030649 NP_085152 Q96P50 ACAP3_HUMAN ArfGAP with coiled-coil, ankyrin repeat and PH 221 filopodium assembly|regulation of ARF GTPase activity|signal transduction ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding 0 AAAGGCTCACCTCGGCTGCCA 0.632 NA 7 22 0 0 0 0 UBE4B 10277 broad.mit.edu 37 1 10211518 10211518 + Missense_Mutation SNP A A T TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr1:10211518A>T uc001aqs.3 + 21 3538 c.2825A>T c.(2824-2826)AAC>ATC p.N942I UBE4B_uc001aqr.3_Missense_Mutation_p.N813I|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_Missense_Mutation_p.N397I|UBE4B_uc001aqt.1_Missense_Mutation_p.N282I NM_001105562 NP_001099032 O95155 UBE4B_HUMAN ubiquitination factor E4B isoform 1 942 apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV cytoplasm|ubiquitin ligase complex enzyme binding ovary(2)|skin(2) 4 all_lung(284;1.13e-05)|Lung NSC(185;1.74e-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;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046) TTTATGACCAACCCTGCTGTT 0.428 NA 15 100 0 0 0 0 PGD 5226 broad.mit.edu 37 1 10473290 10473290 + Missense_Mutation SNP G G A TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr1:10473290G>A uc001arc.2 + 8 916 c.826G>A c.(826-828)GTA>ATA p.V276I PGD_uc001ard.2_Missense_Mutation_p.V196I|PGD_uc010oak.1_Missense_Mutation_p.V254I|PGD_uc010oal.1_Missense_Mutation_p.V263I NM_002631 NP_002622 P52209 6PGD_HUMAN phosphogluconate dehydrogenase 276 pentose-phosphate shunt, oxidative branch cytosol NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding ovary(1) 1 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.19e-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;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487) GGAATACGGCGTACCCGTCAC 0.542 NA 17 33 0 0 0 0 NBPF1 55672 broad.mit.edu 37 1 16902828 16902828 + Missense_Mutation SNP C C T TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr1:16902828C>T uc009vos.1 - 19 2941 c.2053G>A c.(2053-2055)GAC>AAC p.D685N NBPF1_uc009vot.1_Intron|NBPF1_uc001ayz.1_Missense_Mutation_p.D143N|NBPF1_uc010oce.1_Missense_Mutation_p.D414N NM_017940 NP_060410 Q3BBV0 NBPF1_HUMAN hypothetical protein LOC55672 685 cytoplasm 0 UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTGGAGGTCCTGCCCCTGG 0.577 NA 27 740 0 0 0 0 CAP1 10487 broad.mit.edu 37 1 40525772 40525772 + Missense_Mutation SNP C C T TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr1:40525772C>T uc001cfa.3 + 3 375 c.146C>T c.(145-147)TCG>TTG p.S49L CAP1_uc010ojd.1_RNA|CAP1_uc001cey.3_Missense_Mutation_p.S49L|CAP1_uc001cez.3_Missense_Mutation_p.S49L|CAP1_uc009vvz.2_Missense_Mutation_p.S49L|CAP1_uc010oje.1_Missense_Mutation_p.R19C NM_006367 NP_006358 Q01518 CAP1_HUMAN adenylyl cyclase-associated protein 49 activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction plasma membrane actin binding ovary(1) 1 Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GCATTTGACTCGCTGCTTGCT 0.463 NA 21 49 0 0 0 0 KIAA0467 23334 broad.mit.edu 37 1 43909378 43909378 + Silent SNP G G A TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr1:43909378G>A uc001cjk.1 + 47 6501 c.6039G>A c.(6037-6039)CTG>CTA p.L2013L KIAA0467_uc001cjl.1_5'Flank NM_015284 NP_056099 Q5T011 SZT2_HUMAN hypothetical protein LOC23334 2912 peroxisome 0 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) TGAAGGAGCTGAGCTTGGCTT 0.632 NA 45 153 0 0 0 0 NBPF9 400818 broad.mit.edu 37 1 144618116 144618116 + Nonsense_Mutation SNP G G T TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr1:144618116G>T uc009wig.1 + 6 389 c.313G>T c.(313-315)GAG>TAG p.E105* NBPF9_uc010oxn.1_Intron|NBPF9_uc010oxo.1_Intron|NBPF9_uc010oxr.1_Intron|NBPF9_uc010oxt.1_Intron|NBPF9_uc001ekg.1_Intron|NBPF9_uc001ekk.1_Intron|NBPF10_uc009wir.2_Intron|NBPF9_uc010oyd.1_Intron|NBPF9_uc010oye.1_Nonsense_Mutation_p.E36*|NBPF9_uc001eli.3_RNA|NBPF9_uc010oyf.1_Nonsense_Mutation_p.E36*|NBPF9_uc010oyg.1_Nonsense_Mutation_p.E70*|NBPF9_uc009wii.1_5'UTR NM_001037675 NP_001032764 Q3BBV1 NBPFK_HUMAN hypothetical protein LOC400818 105 Potential. cytoplasm 0 TCAGGAACGAGAGCTGACGCA 0.473 NA 59 472 8.31e-28 1.75e-27 1 0 PRG4 10216 broad.mit.edu 37 1 186275989 186275989 + Nonsense_Mutation SNP G G T TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr1:186275989G>T uc001gru.3 + 7 1189 c.1138G>T c.(1138-1140)GAG>TAG p.E380* PRG4_uc001grt.3_Nonsense_Mutation_p.E339*|PRG4_uc009wyl.2_Nonsense_Mutation_p.E287*|PRG4_uc009wym.2_Nonsense_Mutation_p.E246*|PRG4_uc010poo.1_RNA NM_005807 NP_005798 Q92954 PRG4_HUMAN proteoglycan 4 isoform A 380 5.|59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity skin(1) 1 CACCCCCAAGGAGCCTGCACC 0.642 NA 22 101 1.11e-12 2.29e-12 1 0 PTPRC 5788 broad.mit.edu 37 1 198719738 198719738 + Silent SNP C C T TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr1:198719738C>T uc001gur.1 + 29 3364 c.3184C>T c.(3184-3186)CTG>TTG p.L1062L PTPRC_uc001gus.1_Silent_p.L1014L|PTPRC_uc001gut.1_Silent_p.L901L NM_002838 NP_002829 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 1062 Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential). axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1) 12 GCTGACAGAACTGAAACATGG 0.408 NA 16 78 0 0 0 0 DDX59 83479 broad.mit.edu 37 1 200635479 200635479 + Missense_Mutation SNP C C A TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr1:200635479C>A uc009wzk.2 - 2 633 c.390G>T c.(388-390)GAG>GAT p.E130D DDX59_uc010ppl.1_Missense_Mutation_p.E130D NM_001031725 NP_001026895 Q5T1V6 DDX59_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 59 130 HIT-type. intracellular ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding ovary(2)|breast(1)|central_nervous_system(1) 4 TCGCTTTACACTCCAAACTAC 0.448 NA 20 58 2.38e-13 4.93e-13 1 0 KIF26B 55083 broad.mit.edu 37 1 245775205 245775205 + Silent SNP C C T TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr1:245775205C>T uc001ibf.1 + 9 2465 c.2025C>T c.(2023-2025)GAC>GAT p.D675D KIF26B_uc010pyq.1_Silent_p.D675D|KIF26B_uc001ibg.1_Silent_p.D293D NM_018012 NP_060482 Q2KJY2 KI26B_HUMAN kinesin family member 26B 675 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(3) 3 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) ATGAGGACGACCACCGCAACT 0.612 NA 6 45 0 0 0 0 PCDH15 65217 broad.mit.edu 37 10 55955493 55955493 + Missense_Mutation SNP T T G TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr10:55955493T>G uc001jju.1 - 11 1650 c.1255A>C c.(1255-1257)AAT>CAT p.N419H PCDH15_uc010qhq.1_Missense_Mutation_p.N424H|PCDH15_uc010qhr.1_Missense_Mutation_p.N419H|PCDH15_uc010qhs.1_Missense_Mutation_p.N424H|PCDH15_uc010qht.1_Missense_Mutation_p.N419H|PCDH15_uc010qhu.1_Missense_Mutation_p.N419H|PCDH15_uc001jjv.1_Missense_Mutation_p.N397H|PCDH15_uc010qhv.1_Missense_Mutation_p.N419H|PCDH15_uc010qhw.1_Missense_Mutation_p.N382H|PCDH15_uc010qhx.1_Missense_Mutation_p.N419H|PCDH15_uc010qhy.1_Missense_Mutation_p.N424H|PCDH15_uc010qhz.1_Missense_Mutation_p.N419H|PCDH15_uc010qia.1_Missense_Mutation_p.N397H|PCDH15_uc010qib.1_Missense_Mutation_p.N397H|PCDH15_uc001jjw.2_Missense_Mutation_p.N419H NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 419 Cadherin 4.|Extracellular (Potential). equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) GAAGTCAAATTGAGACTGTCC 0.368 NA HNSCC(58;0.16) 14 43 0 0 0 0 TET1 80312 broad.mit.edu 37 10 70333694 70333694 + Silent SNP C C T TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr10:70333694C>T uc001jok.3 + 2 2104 c.1599C>T c.(1597-1599)CTC>CTT p.L533L NM_030625 NP_085128 Q8NFU7 TET1_HUMAN CXXC finger 6 533 Sufficient for binding to genomic CpG islands. DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding ovary(5)|lung(2)|prostate(1)|breast(1) 9 TAGCCCAACTCTCTCAGGCTG 0.522 NA 11 74 0 0 0 0 KIF20B 9585 broad.mit.edu 37 10 91532579 91532579 + Silent SNP A A G TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr10:91532579A>G uc001kgs.1 + 32 5448 c.5376A>G c.(5374-5376)TCA>TCG p.S1792S KIF20B_uc001kgr.1_Silent_p.S1752S|KIF20B_uc001kgt.1_Silent_p.S1003S|KIF20B_uc009xtw.1_RNA NM_016195 NP_057279 Q96Q89 KI20B_HUMAN M-phase phosphoprotein 1 1792 Interaction with PIN1. cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis centrosome|microtubule|nucleolus|nucleoplasm|spindle ATP binding|ATPase activity|microtubule motor activity|WW domain binding ovary(1)|pancreas(1)|skin(1) 3 TTGATATATCAGGCCAAGTGG 0.328 NA 3 88 0 0 0 0 PDCD11 22984 broad.mit.edu 37 10 105179454 105179454 + Missense_Mutation SNP G G T TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr10:105179454G>T uc001kwy.1 + 16 2353 c.2266G>T c.(2266-2268)GCC>TCC p.A756S NM_014976 NP_055791 Q14690 RRP5_HUMAN programmed cell death 11 756 S1 motif 8. mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding ovary(2)|breast(2)|skin(2)|central_nervous_system(1) 7 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) TAGCGGACTGGCCCCAAAAGC 0.488 NA 10 54 4.69e-08 9.62e-08 1 0 PHRF1 57661 broad.mit.edu 37 11 605263 605263 + Missense_Mutation SNP C C G TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr11:605263C>G uc001lqe.2 + 11 1428 c.1297C>G c.(1297-1299)CTG>GTG p.L433V PHRF1_uc010qwc.1_Missense_Mutation_p.L433V|PHRF1_uc010qwd.1_Missense_Mutation_p.L432V|PHRF1_uc010qwe.1_Missense_Mutation_p.L429V|PHRF1_uc009ybz.1_Missense_Mutation_p.L224V|PHRF1_uc009yca.1_5'Flank NM_020901 NP_065952 Q9P1Y6 PHRF1_HUMAN PHD and ring finger domains 1 433 RNA polymerase binding|zinc ion binding 0 CTCTCTGTCTCTGTTTGGAGA 0.607 NA 38 97 0 0 0 0 BRSK2 9024 broad.mit.edu 37 11 1475777 1475777 + Missense_Mutation SNP T T C TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr11:1475777T>C uc001lti.2 + 16 1993 c.1607T>C c.(1606-1608)GTG>GCG p.V536A BRSK2_uc009ycv.1_Missense_Mutation_p.V558A|BRSK2_uc001lth.1_Missense_Mutation_p.V536A|BRSK2_uc001ltj.2_Missense_Mutation_p.V536A|BRSK2_uc001ltk.2_RNA|BRSK2_uc001ltl.2_Missense_Mutation_p.V536A|BRSK2_uc001ltm.2_Missense_Mutation_p.V582A|BRSK2_uc001ltn.2_RNA|BRSK2_uc010qwx.1_RNA|BRSK2_uc009ycw.2_Missense_Mutation_p.V32A NM_003957 NP_003948 Q8IWQ3 BRSK2_HUMAN BR serine/threonine kinase 2 536 establishment of cell polarity|neuron differentiation ATP binding|magnesium ion binding|protein serine/threonine kinase activity 0 all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842) CAGATCTTCGTGGTCATCAAA 0.602 NA 12 41 0 0 0 0 IPO7 10527 broad.mit.edu 37 11 9435863 9435863 + Silent SNP C C T TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr11:9435863C>T uc001mho.2 + 5 683 c.541C>T c.(541-543)CTA>TTA p.L181L NM_006391 NP_006382 O95373 IPO7_HUMAN importin 7 181 interspecies interaction between organisms|signal transduction Golgi apparatus|nuclear pore|soluble fraction protein transporter activity|Ran GTPase binding|small GTPase regulator activity lung(1)|breast(1) 2 all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217) TCTGCCAGTTCTAAAGGATCG 0.388 NA 20 60 0 0 0 0 MRGPRX3 117195 broad.mit.edu 37 11 18159571 18159571 + Silent SNP C C T TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr11:18159571C>T uc001mnu.2 + 3 1183 c.822C>T c.(820-822)TTC>TTT p.F274F NM_054031 NP_473372 Q96LB0 MRGX3_HUMAN MAS-related GPR, member X3 274 Helical; Name=7; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1)|pancreas(1) 2 TTTACTTCTTCGTGGGCTCCT 0.512 NA 30 89 0 0 0 0 OR10AG1 282770 broad.mit.edu 37 11 55735369 55735369 + Missense_Mutation SNP G G A TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr11:55735369G>A uc010rit.1 - 1 571 c.571C>T c.(571-573)CAT>TAT p.H191Y NM_001005491 NP_001005491 Q8NH19 O10AG_HUMAN olfactory receptor, family 10, subfamily AG, 191 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Esophageal squamous(21;0.0137) GCTACTACATGGACTGTTATC 0.398 NA 9 36 0 0 0 0 TCIRG1 10312 broad.mit.edu 37 11 67817516 67817516 + Missense_Mutation SNP G G A TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr11:67817516G>A uc001one.2 + 17 2209 c.2101G>A c.(2101-2103)GAT>AAT p.D701N TCIRG1_uc001ong.2_Missense_Mutation_p.D485N|TCIRG1_uc001onh.2_Missense_Mutation_p.D403N|TCIRG1_uc001oni.2_Missense_Mutation_p.D205N|TCIRG1_uc009ysd.2_RNA NM_006019 NP_006010 Q13488 VPP3_HUMAN T-cell, immune regulator 1 isoform a 701 Lumenal (Potential). ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain hydrogen ion transmembrane transporter activity ovary(1) 1 GGGCCTGGATGATGAAGAGGA 0.672 NA 10 27 0 0 0 0 GDPD5 81544 broad.mit.edu 37 11 75152748 75152748 + Missense_Mutation SNP C C T TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr11:75152748C>T uc001owo.3 - 14 1805 c.1268G>A c.(1267-1269)AGA>AAA p.R423K GDPD5_uc001owp.3_Missense_Mutation_p.R423K|GDPD5_uc001own.3_Missense_Mutation_p.R178K|GDPD5_uc009yuc.2_Missense_Mutation_p.R285K|GDPD5_uc009yud.2_Missense_Mutation_p.R304K NM_030792 NP_110419 Q8WTR4 GDPD5_HUMAN glycerophosphodiester phosphodiesterase domain 423 Extracellular (Potential).|GDPD. glycerol metabolic process|lipid metabolic process|nervous system development endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm glycerophosphodiester phosphodiesterase activity ovary(1) 1 GATGTGGCCTCTCCGCAGGCT 0.672 NA 6 13 0 0 0 0 ATM 472 broad.mit.edu 37 11 108236053 108236053 + Missense_Mutation SNP G G A TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr11:108236053G>A uc001pkb.1 + 63 9374 c.8989G>A c.(8989-8991)GAT>AAT p.D2997N ATM_uc009yxr.1_Missense_Mutation_p.D2997N|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.1_Intron|ATM_uc001pke.1_Missense_Mutation_p.D1649N NM_000051 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated isoform 1 2997 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1) 240 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) TGTCCTTAGTGATATTGACCA 0.398 NA D|Mis|N|F|S T-PLL leukemia|lymphoma|medulloblastoma|glioma Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Ataxia_Telangiectasia TSP Lung(14;0.12) 22 33 0 0 0 0 CCDC15 80071 broad.mit.edu 37 11 124908467 124908467 + Missense_Mutation SNP G G C TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr11:124908467G>C uc001qbm.3 + 14 2811 c.2552G>C c.(2551-2553)AGA>ACA p.R851T NM_025004 NP_079280 Q0P6D6 CCD15_HUMAN coiled-coil domain containing 15 851 Potential. centrosome ovary(1)|central_nervous_system(1) 2 all_hematologic(175;0.215) Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413) AAAGGAACCAGAGAAAAACAA 0.358 NA 5 1 0 0 0 0 RAD51AP1 10635 broad.mit.edu 37 12 4657916 4657916 + Missense_Mutation SNP C C G TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr12:4657916C>G uc001qmw.2 + 7 677 c.521C>G c.(520-522)TCT>TGT p.S174C RAD51AP1_uc001qmu.2_Missense_Mutation_p.S157C|RAD51AP1_uc001qmv.2_Missense_Mutation_p.S120C|RAD51AP1_uc010sep.1_Missense_Mutation_p.S39C|RAD51AP1_uc010seq.1_Missense_Mutation_p.S39C|RAD51AP1_uc009zeg.2_5'Flank NM_001130862 NP_001124334 Q96B01 R51A1_HUMAN RAD51 associated protein 1 isoform a 174 double-strand break repair via homologous recombination double-stranded DNA binding|protein binding|protein binding|RNA binding|single-stranded DNA binding 0 Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389) AAAGCAGCATCTAAAGCTGCA 0.413 NA 22 68 0 0 0 0 ANO2 57101 broad.mit.edu 37 12 5744499 5744499 + Silent SNP G G A TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr12:5744499G>A uc001qnm.2 - 17 1707 c.1635C>T c.(1633-1635)TTC>TTT p.F545F NM_020373 NP_065106 Q9NQ90 ANO2_HUMAN anoctamin 2 550 Helical; (Potential). chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity ovary(4)|large_intestine(2)|central_nervous_system(1) 7 AGACGATTGAGAATGTCAGGG 0.478 NA 10 16 0 0 0 0 CLSTN3 9746 broad.mit.edu 37 12 7303242 7303242 + Missense_Mutation SNP C C T TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr12:7303242C>T uc001qsr.2 + 15 2626 c.2348C>T c.(2347-2349)TCG>TTG p.S783L CLSTN3_uc001qss.2_Missense_Mutation_p.S795L NM_014718 NP_055533 Q9BQT9 CSTN3_HUMAN calsyntenin 3 precursor 783 Extracellular (Potential). homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding large_intestine(1) 1 CTTTCCTGCTCGGAAATGAAT 0.547 NA 44 105 0 0 0 0 SLCO1C1 53919 broad.mit.edu 37 12 20893267 20893267 + Silent SNP C C T TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr12:20893267C>T uc001rej.3 + 13 2053 c.1698C>T c.(1696-1698)TCC>TCT p.S566S SLCO1C1_uc010sii.1_Silent_p.S566S|SLCO1C1_uc010sij.1_Silent_p.S517S|SLCO1C1_uc009zip.2_Silent_p.S400S|SLCO1C1_uc001rei.2_Silent_p.S566S|SLCO1C1_uc010sik.1_Silent_p.S448S NM_017435 NP_059131 Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, 566 Helical; Name=10; (Potential). sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity ovary(5)|pancreas(1)|skin(1) 7 Esophageal squamous(101;0.149) ATACTTTATCCCTAGGTGGCA 0.378 NA 31 93 0 0 0 0 DIP2B 57609 broad.mit.edu 37 12 51080375 51080375 + Nonsense_Mutation SNP G G A TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr12:51080375G>A uc001rwv.2 + 12 1617 c.1461G>A c.(1459-1461)TGG>TGA p.W487* DIP2B_uc009zlt.2_5'UTR NM_173602 NP_775873 Q9P265 DIP2B_HUMAN DIP2 disco-interacting protein 2 homolog B 487 nucleus catalytic activity|transcription factor binding ovary(4)|breast(1)|pancreas(1) 6 GGCTCAAATGGGTTGTAACAG 0.448 NA 17 22 0 0 0 0 CS 1431 broad.mit.edu 37 12 56669923 56669923 + Missense_Mutation SNP C C G TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr12:56669923C>G uc001sks.1 - 7 835 c.645G>C c.(643-645)AAG>AAC p.K215N CS_uc010sql.1_Missense_Mutation_p.K202N|CS_uc001skr.1_Missense_Mutation_p.K149N|CS_uc001skt.1_Missense_Mutation_p.K170N|CS_uc010sqm.1_Missense_Mutation_p.K149N NM_004077 NP_004068 O75390 CISY_HUMAN citrate synthase precursor 215 cellular carbohydrate metabolic process|tricarboxylic acid cycle mitochondrial matrix citrate (Si)-synthase activity 0 Myeloproliferative disorder(1001;0.000374) BRCA - Breast invasive adenocarcinoma(357;6.17e-07) TTCGGTAGATCTTTGCTGCAA 0.418 NA 21 30 0 0 0 0 LRP1 4035 broad.mit.edu 37 12 57548365 57548365 + Missense_Mutation SNP C C T TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr12:57548365C>T uc001snd.2 + 8 1574 c.1108C>T c.(1108-1110)CAT>TAT p.H370Y LRP1_uc001snc.1_Missense_Mutation_p.H370Y NM_002332 NP_002323 Q07954 LRP1_HUMAN low density lipoprotein-related protein 1 370 LDL-receptor class B 2.|Extracellular (Potential). aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2) 22 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) TGTGTTTCCTCATGGCATCAC 0.547 NA 9 10 0 0 0 0 CLIP1 6249 broad.mit.edu 37 12 122812709 122812709 + Missense_Mutation SNP C C T TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr12:122812709C>T uc001ucg.1 - 16 3140 c.3034G>A c.(3034-3036)GAA>AAA p.E1012K CLIP1_uc001uch.1_Missense_Mutation_p.E1001K|CLIP1_uc001uci.1_Missense_Mutation_p.E966K|CLIP1_uc001ucj.1_Missense_Mutation_p.E587K NM_002956 NP_002947 P30622 CLIP1_HUMAN restin isoform a 1012 Potential. mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding ovary(2)|breast(1) 3 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) ATTTTCTTTTCCTGCAGAGAC 0.493 NA 17 155 0 0 0 0 SFRS8 6433 broad.mit.edu 37 12 132239043 132239043 + Missense_Mutation SNP A A G TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr12:132239043A>G uc001uja.1 + 9 1593 c.1453A>G c.(1453-1455)AGA>GGA p.R485G SFRS8_uc010tbn.1_Missense_Mutation_p.R485G|SFRS8_uc001ujb.1_Missense_Mutation_p.R278G|SFRS8_uc001uiz.1_3'UTR NM_004592 NP_004583 Q12872 SFSWA_HUMAN splicing factor, arginine/serine-rich 8 485 SURP motif 2. 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) GAATGATCAAAGGTCAGAAGA 0.433 NA 23 30 0 0 0 0 PUS1 80324 broad.mit.edu 37 12 132414283 132414283 + Missense_Mutation SNP C C T TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr12:132414283C>T uc001ujf.2 + 1 495 c.16C>T c.(16-18)CGC>TGC p.R6C PUS1_uc001ujg.2_Intron|PUS1_uc001ujh.2_Intron|PUS1_uc001uji.2_5'Flank NM_025215 NP_079491 Q9Y606 TRUA_HUMAN pseudouridine synthase 1 isoform 1 6 mitochondrion pseudouridine synthase activity|pseudouridylate synthase activity|RNA binding breast(1)|central_nervous_system(1) 2 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07) CCTCCAGCTTCGCGCGCTGTT 0.726 NA 13 15 0 0 0 0 IFT88 8100 broad.mit.edu 37 13 21217595 21217595 + Missense_Mutation SNP T T G TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr13:21217595T>G uc001unh.2 + 21 2107 c.1711T>G c.(1711-1713)TAT>GAT p.Y571D IFT88_uc001uni.2_Missense_Mutation_p.Y562D|IFT88_uc001unj.2_Missense_Mutation_p.Y561D|IFT88_uc010tcq.1_Missense_Mutation_p.Y542D NM_175605 NP_783195 Q13099 IFT88_HUMAN intraflagellar transport 88 homolog isoform 1 571 TPR 9. cilium morphogenesis centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum protein binding ovary(1) 1 all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244) all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528) TTGCATAAGATATGAATTAAT 0.323 NA 20 16 0 0 0 0 PHF11 51131 broad.mit.edu 37 13 50100528 50100528 + Nonsense_Mutation SNP G G T TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr13:50100528G>T uc001vdb.2 + 9 1112 c.775G>T c.(775-777)GAA>TAA p.E259* PHF11_uc001vdc.2_Nonsense_Mutation_p.E220*|PHF11_uc001vdd.2_RNA NM_001040443 NP_001035533 Q9UIL8 PHF11_HUMAN PHD finger protein 11 isoform a 259 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding 0 Lung NSC(96;2.1e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;2.38e-09) TCCAGACTATGAAGAAATCGG 0.353 NA 3 10 0.004672 0.00911403 1 0 SEC23A 10484 broad.mit.edu 37 14 39565170 39565170 + Silent SNP T T C TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr14:39565170T>C uc001wup.1 - 2 376 c.153A>G c.(151-153)TTA>TTG p.L51L SEC23A_uc010tqa.1_Intron|SEC23A_uc010tqb.1_Silent_p.L51L NM_006364 NP_006355 Q15436 SC23A_HUMAN SEC23-related protein A 51 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane protein binding|zinc ion binding ovary(4)|upper_aerodigestive_tract(1) 5 Hepatocellular(127;0.213) Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565) GBM - Glioblastoma multiforme(112;0.0151) GAATAGGTGGTAAGTCAGGTC 0.413 NA 14 50 0 0 0 0 FCF1 51077 broad.mit.edu 37 14 75199488 75199488 + Nonsense_Mutation SNP T T A TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr14:75199488T>A uc001xqh.2 + 6 471 c.420T>A c.(418-420)TAT>TAA p.Y140* FCF1_uc001xqf.1_Nonsense_Mutation_p.Y125*|FCF1_uc001xqg.2_RNA|FCF1_uc001xqi.2_RNA NM_015962 NP_057046 Q9Y324 FCF1_HUMAN FCF1 small subunit 140 PINc. rRNA processing nucleolus ovary(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.0037) AAGGAACCTATGCAGATGACT 0.343 NA 6 76 0 0 0 0 ADSSL1 122622 broad.mit.edu 37 14 105207565 105207565 + Missense_Mutation SNP C C T TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr14:105207565C>T uc001ypd.2 + 8 852 c.778C>T c.(778-780)CTC>TTC p.L260F INF2_uc010tyi.1_Intron|ADSSL1_uc001ype.2_Missense_Mutation_p.L303F|ADSSL1_uc001ypf.2_RNA NM_152328 NP_689541 Q8N142 PURA1_HUMAN adenylosuccinate synthase like 1 isoform 2 260 AMP biosynthetic process|immune system process|purine base metabolic process cytosol adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding ovary(1)|central_nervous_system(1) 2 all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172) all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.18) L-Aspartic Acid(DB00128) CGCCGCCCTCCTCGACATTGA 0.617 NA 20 33 0 0 0 0 AHNAK2 113146 broad.mit.edu 37 14 105406529 105406529 + Missense_Mutation SNP G G A TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr14:105406529G>A uc010axc.1 - 7 15379 c.15259C>T c.(15259-15261)CTC>TTC p.L5087F AHNAK2_uc001ypx.2_Missense_Mutation_p.L4987F NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 5087 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GGCCGGTGGAGGTTCACACCC 0.572 NA 42 95 0 0 0 0 AHNAK2 113146 broad.mit.edu 37 14 105410194 105410194 + Missense_Mutation SNP C C A TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr14:105410194C>A uc010axc.1 - 7 11714 c.11594G>T c.(11593-11595)CGC>CTC p.R3865L AHNAK2_uc001ypx.2_Missense_Mutation_p.R3765L NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3865 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GTCCACCTGGCGAGCTTGGAC 0.607 NA 82 189 9.35e-44 1.98e-43 1 0 MKRN3 7681 broad.mit.edu 37 15 23811447 23811447 + Missense_Mutation SNP C C T TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr15:23811447C>T uc001ywh.3 + 1 994 c.518C>T c.(517-519)TCG>TTG p.S173L MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Missense_Mutation_p.S173L NM_005664 NP_005655 Q13064 MKRN3_HUMAN makorin ring finger protein 3 173 ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding lung(6)|large_intestine(2)|ovary(2) 10 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) GTGATTGGCTCGGCTGCTGAA 0.612 NA 26 29 0 0 0 0 GPR176 11245 broad.mit.edu 37 15 40093386 40093386 + Missense_Mutation SNP G G A TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr15:40093386G>A uc001zkj.1 - 3 2361 c.1495C>T c.(1495-1497)CGG>TGG p.R499W GPR176_uc010uck.1_Missense_Mutation_p.R439W NM_007223 NP_009154 Q14439 GP176_HUMAN G protein-coupled receptor 176 499 Cytoplasmic (Potential). synaptic transmission integral to plasma membrane G-protein coupled receptor activity ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1) 6 all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123) CTCATCTTCCGCTCCACCCTG 0.512 NA 42 81 0 0 0 0 UACA 55075 broad.mit.edu 37 15 70960561 70960561 + Missense_Mutation SNP A A G TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr15:70960561A>G uc002asr.2 - 16 2566 c.2462T>C c.(2461-2463)GTT>GCT p.V821A UACA_uc010uke.1_Missense_Mutation_p.V712A|UACA_uc002asq.2_Missense_Mutation_p.V808A|UACA_uc010bin.1_Missense_Mutation_p.V796A NM_018003 NP_060473 Q9BZF9 UACA_HUMAN uveal autoantigen with coiled-coil domains and 821 Potential. cytoskeleton|extracellular region ovary(2)|pancreas(1)|skin(1) 4 CTTAAGTTCAACAATATTGGA 0.368 NA 3 83 0 0 0 0 MSLN 10232 broad.mit.edu 37 16 815234 815234 + Missense_Mutation SNP C C T TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr16:815234C>T uc002cjw.1 + 8 686 c.635C>T c.(634-636)CCG>CTG p.P212L MSLN_uc002cjt.1_Missense_Mutation_p.P212L|MSLN_uc002cju.1_Missense_Mutation_p.P212L|MSLN_uc010brd.1_Missense_Mutation_p.P211L|MSLN_uc002cjv.1_Missense_Mutation_p.P212L|MSLN_uc002cjx.1_Missense_Mutation_p.P212L|MSLN_uc002cjy.1_5'Flank NM_013404 NP_037536 Q13421 MSLN_HUMAN mesothelin isoform 2 preproprotein 212 cell adhesion anchored to membrane|extracellular region|Golgi apparatus|plasma membrane p.P212P(1) pancreas(1) 1 Hepatocellular(780;0.00335) GTGAGCTGCCCGGGACCCCTG 0.697 NA 4 10 0 0 0 0 CASKIN1 57524 broad.mit.edu 37 16 2239445 2239445 + Missense_Mutation SNP G G T TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr16:2239445G>T uc010bsg.1 - 4 397 c.365C>A c.(364-366)GCG>GAG p.A122E NM_020764 NP_065815 Q8WXD9 CSKI1_HUMAN CASK interacting protein 1 122 ANK 3. signal transduction cytoplasm skin(2) 2 ATGCTGGGCCGCCAGGTGCAG 0.547 NA 5 26 0.000602214 0.00119648 1 0 DCUN1D3 123879 broad.mit.edu 37 16 20871625 20871625 + Silent SNP G G A TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr16:20871625G>A uc002dhz.2 - 3 639 c.498C>T c.(496-498)TTC>TTT p.F166F ERI2_uc002dht.3_Intron NM_173475 NP_775746 Q8IWE4 DCNL3_HUMAN DCN1, defective in cullin neddylation 1, domain 166 DCUN1. negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of apoptosis|response to gamma radiation|response to UV-C perinuclear region of cytoplasm ovary(2) 2 GBM - Glioblastoma multiforme(48;0.249) AGAGGCTAGGGAACCGTGCAC 0.443 NA 31 67 0 0 0 0 EEF2K 29904 broad.mit.edu 37 16 22260121 22260121 + Missense_Mutation SNP C C G TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr16:22260121C>G uc002dki.2 + 4 878 c.393C>G c.(391-393)ATC>ATG p.I131M EEF2K_uc002dkh.2_RNA NM_013302 NP_037434 O00418 EF2K_HUMAN elongation factor-2 kinase 131 Alpha-type protein kinase. insulin receptor signaling pathway|translational elongation cytosol ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding large_intestine(1) 1 GBM - Glioblastoma multiforme(48;0.0223) AAGTTCTGATCAAGATGGCAT 0.567 NA 8 35 0 0 0 0 CNGB1 1258 broad.mit.edu 37 16 58001090 58001090 + Missense_Mutation SNP T T C TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr16:58001090T>C uc002emt.2 - 2 166 c.101A>G c.(100-102)GAG>GGG p.E34G CNGB1_uc010cdh.2_Missense_Mutation_p.E34G|CNGB1_uc002emu.2_Missense_Mutation_p.E34G NM_001297 NP_001288 Q14028 CNGB1_HUMAN cyclic nucleotide gated channel beta 1 isoform 34 Glu-rich. sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(3)|pancreas(1) 4 CACCTCCGCCTCCATCTCTGG 0.642 NA 3 81 0 0 0 0 CMTM1 113540 broad.mit.edu 37 16 66603924 66603924 + Missense_Mutation SNP T T C TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr16:66603924T>C uc002epi.3 + 2 290 c.167T>C c.(166-168)ATT>ACT p.I56T CMTM1_uc002epb.3_RNA|CMTM1_uc002epc.3_RNA|CMTM1_uc002epd.3_Intron|CMTM1_uc002epe.3_Intron|CMTM1_uc002epf.3_Intron|CMTM1_uc002epg.3_Intron|CMTM1_uc002eph.3_Missense_Mutation_p.I56T|CMTM1_uc002epl.3_Intron|CMTM1_uc002epj.3_Intron|CMTM1_uc002epk.3_Intron|CMTM1_uc002epa.3_Intron|CMTM1_uc002epn.3_Missense_Mutation_p.I173T|CMTM1_uc002epo.3_RNA|CMTM1_uc002epp.3_RNA|CMTM1_uc002epq.3_RNA|CMTM1_uc010cds.2_RNA|CMTM1_uc002epr.3_Missense_Mutation_p.I173T|CMTM1_uc002epm.3_RNA|CMTM1_uc002eps.2_RNA NM_181269 NP_851786 Q8IZ96 CKLF1_HUMAN chemokine-like factor superfamily 1 isoform 1 56 MARVEL.|Helical; (Potential). chemotaxis extracellular space|integral to membrane cytokine activity 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222) GAAATCTGCATTGTCGTTTTT 0.343 NA 49 103 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7578262 7578262 + Missense_Mutation SNP C C G TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr17:7578262C>G uc002gim.2 - 6 781 c.587G>C c.(586-588)CGA>CCA p.R196P TP53_uc002gig.1_Missense_Mutation_p.R196P|TP53_uc002gih.2_Missense_Mutation_p.R196P|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R64P|TP53_uc010cng.1_Missense_Mutation_p.R64P|TP53_uc002gii.1_Missense_Mutation_p.R64P|TP53_uc010cnh.1_Missense_Mutation_p.R196P|TP53_uc010cni.1_Missense_Mutation_p.R196P|TP53_uc002gij.2_Missense_Mutation_p.R196P|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.R103P|TP53_uc002gio.2_Missense_Mutation_p.R64P|TP53_uc010vug.1_Missense_Mutation_p.R157P NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 196 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> G (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.R196*(123)|p.R196P(12)|p.0?(7)|p.R196R(5)|p.R196fs*51(4)|p.A189_V197delAPPQHLIRV(4)|p.R196Q(3)|p.K164_P219del(1)|p.I195fs*50(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.R196L(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) TCCTTCCACTCGGATAAGATG 0.547 111 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) 22 17 0 0 0 0 CCDC144A 9720 broad.mit.edu 37 17 16612722 16612722 + Missense_Mutation SNP A A T TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr17:16612722A>T uc002gqk.1 + 5 1427 c.1351A>T c.(1351-1353)ACA>TCA p.T451S CCDC144A_uc002gql.1_Intron|LOC162632_uc010cpj.1_5'Flank NM_014695 NP_055510 A2RUR9 C144A_HUMAN coiled-coil domain containing 144A 451 0 TTTGCAAATGACAAAAAATAT 0.343 NA 24 26 0 0 0 0 PIGW 284098 broad.mit.edu 37 17 34893502 34893502 + Silent SNP G G A TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr17:34893502G>A uc002hmy.1 + 2 595 c.552G>A c.(550-552)GAG>GAA p.E184E MYO19_uc002hmw.2_5'Flank|MYO19_uc010cuu.2_5'Flank|MYO19_uc010wcy.1_5'Flank|MYO19_uc010wcz.1_5'Flank|MYO19_uc010wda.1_5'Flank|MYO19_uc002hmx.2_5'Flank|PIGW_uc002hmz.1_Silent_p.E184E NM_178517 NP_848612 Q7Z7B1 PIGW_HUMAN phosphatidylinositol glycan, class W 184 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane O-acyltransferase activity 0 Breast(25;0.00957)|Ovarian(249;0.17) Kidney(155;0.104) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) TTTGTCTAGAGGTCAGGAGGA 0.418 NA 36 150 0 0 0 0 TBX21 30009 broad.mit.edu 37 17 45822604 45822604 + Missense_Mutation SNP G G A TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr17:45822604G>A uc002ilv.1 + 6 1691 c.1480G>A c.(1480-1482)GAA>AAA p.E494K NM_013351 NP_037483 Q9UL17 TBX21_HUMAN T-box 21 494 lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding 0 AGGACTGGGCGAAGGAGACTC 0.617 NA 9 42 0 0 0 0 TRIM37 4591 broad.mit.edu 37 17 57119177 57119177 + Missense_Mutation SNP C C A TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr17:57119177C>A uc002iwy.3 - 17 2194 c.1750G>T c.(1750-1752)GCA>TCA p.A584S TRIM37_uc002iwz.3_Missense_Mutation_p.A584S|TRIM37_uc002ixa.3_Missense_Mutation_p.A462S|TRIM37_uc010woc.1_Missense_Mutation_p.A550S NM_001005207 NP_001005207 O94972 TRI37_HUMAN tripartite motif-containing 37 protein 584 perinuclear region of cytoplasm|peroxisome ligase activity|protein binding|zinc ion binding lung(2)|pancreas(2)|ovary(1)|skin(1)|breast(1) 7 Medulloblastoma(34;0.0922)|all_neural(34;0.101) TCATTACCTGCGGGTCCTGCA 0.423 NA Mulibrey_Nanism 7 19 0.00307968 0.00603906 1 0 C17orf56 146705 broad.mit.edu 37 17 79204412 79204412 + Missense_Mutation SNP G G A TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr17:79204412G>A uc002jzu.1 - 11 983 c.961C>T c.(961-963)CGC>TGC p.R321C C17orf56_uc002jzr.1_5'UTR|C17orf56_uc002jzs.1_Missense_Mutation_p.R237C|C17orf56_uc002jzt.1_Missense_Mutation_p.R237C|C17orf56_uc002jzv.1_Missense_Mutation_p.R169C|uc002jzw.1_RNA NM_144679 NP_653280 Q96N21 CQ056_HUMAN hypothetical protein LOC146705 321 integral to membrane 0 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) GGCCGGGTGCGGAGGAGGATG 0.697 NA OREG0024811 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 25 0 0 0 0 HMHA1 23526 broad.mit.edu 37 19 1082981 1082981 + Missense_Mutation SNP T T A TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr19:1082981T>A uc002lqz.1 + 20 2891 c.2660T>A c.(2659-2661)CTG>CAG p.L887Q HMHA1_uc010xgd.1_Missense_Mutation_p.L903Q|HMHA1_uc010xge.1_Missense_Mutation_p.L755Q|HMHA1_uc002lra.1_Missense_Mutation_p.L727Q|HMHA1_uc002lrb.1_Missense_Mutation_p.L770Q|HMHA1_uc002lrc.1_Missense_Mutation_p.L522Q|HMHA1_uc002lrd.1_5'UTR|HMHA1_uc010dsd.1_5'UTR NM_012292 NP_036424 Q92619 HMHA1_HUMAN minor histocompatibility antigen HA-1 887 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding lung(1) 1 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCGGTGGCCCTGGCAGGTCGG 0.716 NA 5 8 0 0 0 0 ZNF700 90592 broad.mit.edu 37 19 12060456 12060456 + Missense_Mutation SNP C C G TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr19:12060456C>G uc002msu.2 + 4 1743 c.1617C>G c.(1615-1617)AAC>AAG p.N539K ZNF700_uc010xme.1_Missense_Mutation_p.N557K|ZNF763_uc010xmf.1_Intron NM_144566 NP_653167 Q9H0M5 ZN700_HUMAN zinc finger protein 700 539 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 ATGAATGCAACCAATGTGGTA 0.398 NA 3 87 0 0 0 0 ZNF136 7695 broad.mit.edu 37 19 12296615 12296615 + Missense_Mutation SNP G G C TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr19:12296615G>C uc002mti.2 + 2 119 c.19G>C c.(19-21)GAG>CAG p.E7Q ZNF136_uc010xmh.1_Intron NM_003437 NP_003428 P52737 ZN136_HUMAN zinc finger protein 136 7 KRAB. negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|transcription corepressor activity|zinc ion binding ovary(1)|pancreas(1) 2 GGTGGCTTTTGAGGATGTAGA 0.478 NA 13 59 0 0 0 0 MAST3 23031 broad.mit.edu 37 19 18232573 18232573 + Silent SNP G G A TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr19:18232573G>A uc002nhz.3 + 3 150 c.150G>A c.(148-150)TCG>TCA p.S50S NM_015016 NP_055831 O60307 MAST3_HUMAN microtubule associated serine/threonine kinase 50 ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity large_intestine(2)|ovary(2)|stomach(1) 5 CGCCATTGTCGGTCCCAACGG 0.687 NA 29 83 0 0 0 0 PDCD2L 84306 broad.mit.edu 37 19 34895682 34895682 + Silent SNP G G T TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr19:34895682G>T uc002nvj.2 + 2 270 c.237G>T c.(235-237)GCG>GCT p.A79A NM_032346 NP_115722 Q9BRP1 PDD2L_HUMAN programmed cell death 2-like 79 cytoplasm ovary(1) 1 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.211) ACGTGTTCGCGTGCGCCTGCC 0.716 NA 5 11 0.00116845 0.00231537 1 0 FCGBP 8857 broad.mit.edu 37 19 40367841 40367841 + Silent SNP T T G TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr19:40367841T>G uc002omp.3 - 29 13127 c.13119A>C c.(13117-13119)GCA>GCC p.A4373A NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 4373 TIL 10. extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) TCGTAAGGGGTGCAGGGGACG 0.627 NA 10 34 0 0 0 0 PSMC4 5704 broad.mit.edu 37 19 40478119 40478119 + Missense_Mutation SNP G G C TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr19:40478119G>C uc002omq.2 + 2 140 c.103G>C c.(103-105)GAG>CAG p.E35Q PSMC4_uc002omr.2_Missense_Mutation_p.E35Q NM_006503 NP_006494 P43686 PRS6B_HUMAN proteasome 26S ATPase subunit 4 isoform 1 35 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction mitochondrion|nucleus|proteasome complex ATP binding|ATPase activity|protein binding ovary(1) 1 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) CCCTGAGCCTGAGGACCTGGA 0.582 NA 24 82 0 0 0 0 ZNF574 64763 broad.mit.edu 37 19 42584376 42584376 + Missense_Mutation SNP C C A TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr19:42584376C>A uc002osm.3 + 2 1787 c.1618C>A c.(1618-1620)CGC>AGC p.R540S ZNF574_uc002osk.3_Missense_Mutation_p.R630S NM_022752 NP_073589 Q6ZN55 ZN574_HUMAN zinc finger protein 574 540 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.059) CAACCTGGCCCGCCACCGGCT 0.642 NA 8 277 0.00448238 0.00876684 1 0 FAM83E 54854 broad.mit.edu 37 19 49104463 49104463 + Missense_Mutation SNP C C G TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr19:49104463C>G uc002pjn.2 - 5 1405 c.1340G>C c.(1339-1341)AGG>ACG p.R447T NM_017708 NP_060178 Q2M2I3 FA83E_HUMAN hypothetical protein LOC54854 447 ovary(1) 1 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158) ACCGAACCGCCTTCGGGCTGG 0.701 NA 11 30 0 0 0 0 ZNF845 91664 broad.mit.edu 37 19 53855570 53855570 + Missense_Mutation SNP G G A TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr19:53855570G>A uc010ydv.1 + 4 1759 c.1642G>A c.(1642-1644)GAG>AAG p.E548K ZNF845_uc010ydw.1_Missense_Mutation_p.E548K NM_138374 NP_612383 Q96IR2 ZN845_HUMAN zinc finger protein 845 548 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TCATACTGGAGAGAAACCTTA 0.413 NA 6 75 0 0 0 0 ZNF132 7691 broad.mit.edu 37 19 58944808 58944808 + Missense_Mutation SNP G G C TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr19:58944808G>C uc002qst.3 - 3 2404 c.2003C>G c.(2002-2004)TCT>TGT p.S668C NM_003433 NP_003424 P52740 ZN132_HUMAN zinc finger protein 132 668 C2H2-type 17. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182) AACAAGTGTAGATCTTTCACT 0.468 NA 7 64 0 0 0 0 SLC5A7 60482 broad.mit.edu 37 2 108622649 108622649 + Missense_Mutation SNP G G A TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr2:108622649G>A uc002tdv.2 + 7 1162 c.886G>A c.(886-888)GCA>ACA p.A296T SLC5A7_uc010ywm.1_Missense_Mutation_p.A49T|SLC5A7_uc010fjj.2_Missense_Mutation_p.A296T|SLC5A7_uc010ywn.1_Missense_Mutation_p.A183T NM_021815 NP_068587 Q9GZV3 SC5A7_HUMAN solute carrier family 5 (choline transporter), 296 Cytoplasmic (Potential). acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity ovary(2)|central_nervous_system(1)|skin(1) 4 Choline(DB00122) GGCCATTGGAGCATCAACAGG 0.542 NA 23 70 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179434249 179434249 + Missense_Mutation SNP C C T TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr2:179434249C>T uc010zfg.1 - 275 69130 c.68906G>A c.(68905-68907)CGT>CAT p.R22969H uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R16664H|TTN_uc010zfi.1_Missense_Mutation_p.R16597H|TTN_uc010zfj.1_Missense_Mutation_p.R16472H NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 23896 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) TGGTGTAGGACGACCTTTTAT 0.393 NA 4 42 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179648932 179648932 + Silent SNP C C T TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr2:179648932C>T uc010zfg.1 - 16 2864 c.2640G>A c.(2638-2640)CAG>CAA p.Q880Q TTN_uc010zfh.1_Silent_p.Q834Q|TTN_uc010zfi.1_Silent_p.Q834Q|TTN_uc010zfj.1_Silent_p.Q834Q|TTN_uc002unb.2_Silent_p.Q880Q NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 880 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) CGAAGGGGAACTGTGGCAAGG 0.537 NA 17 65 0 0 0 0 PDE1A 5136 broad.mit.edu 37 2 183033014 183033014 + Missense_Mutation SNP G G C TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr2:183033014G>C uc002uos.2 - 15 1652 c.1568C>G c.(1567-1569)GCA>GGA p.A523G PDE1A_uc010zfp.1_Intron|PDE1A_uc002uoq.1_Intron|PDE1A_uc010zfq.1_Intron|PDE1A_uc002uor.2_Missense_Mutation_p.A507G|PDE1A_uc002uou.2_Missense_Mutation_p.A489G NM_001003683 NP_001003683 P54750 PDE1A_HUMAN phosphodiesterase 1A isoform 2 523 activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding skin(2)|ovary(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.061) ACTGGTTCTTGCTTCTGAAAA 0.318 NA 10 35 0 0 0 0 HECW2 57520 broad.mit.edu 37 2 197189757 197189757 + Missense_Mutation SNP C C T TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr2:197189757C>T uc002utm.1 - 6 871 c.688G>A c.(688-690)GAG>AAG p.E230K HECW2_uc002utl.1_5'UTR NM_020760 NP_065811 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin 230 C2. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1) 18 GACCGTCTCTCCTGCCCGTGG 0.498 NA 62 184 0 0 0 0 NDUFB3 4709 broad.mit.edu 37 2 201950235 201950235 + Missense_Mutation SNP A A C TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr2:201950235A>C uc002uwx.3 + 3 517 c.194A>C c.(193-195)GAT>GCT p.D65A NM_002491 NP_002482 O43676 NDUB3_HUMAN NADH dehydrogenase (ubiquinone) 1 beta 65 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity 0 NADH(DB00157) TCCTTTTCTGATGTATTCTTT 0.363 NA 3 68 0 0 0 0 NBEAL1 65065 broad.mit.edu 37 2 204078305 204078305 + Missense_Mutation SNP G G C TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr2:204078305G>C uc002uzt.3 + 54 8245 c.7912G>C c.(7912-7914)GAA>CAA p.E2638Q NBEAL1_uc002uzs.3_Missense_Mutation_p.E1279Q|NBEAL1_uc002uzu.2_Missense_Mutation_p.E133Q NM_001114132 NP_001107604 Q6ZS30 NBEL1_HUMAN neurobeachin-like 1 isoform 3 2638 binding ovary(1)|skin(1) 2 TGTCACCAAAGAATACAGCCA 0.383 NA 35 93 0 0 0 0 SPHKAP 80309 broad.mit.edu 37 2 228884679 228884679 + Silent SNP C C T TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr2:228884679C>T uc002vpq.2 - 7 938 c.891G>A c.(889-891)CAG>CAA p.Q297Q SPHKAP_uc002vpp.2_Silent_p.Q297Q|SPHKAP_uc010zlx.1_Silent_p.Q297Q NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 297 cytoplasm protein binding skin(5)|ovary(4)|lung(1) 10 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) GATCTAGACTCTGCAAGGCTG 0.418 NA 60 162 0 0 0 0 PLCB1 23236 broad.mit.edu 37 20 8713951 8713951 + Missense_Mutation SNP C C A TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr20:8713951C>A uc002wnb.2 + 19 1958 c.1955C>A c.(1954-1956)CCA>CAA p.P652Q PLCB1_uc010zrb.1_Missense_Mutation_p.P551Q|PLCB1_uc002wna.2_Missense_Mutation_p.P652Q|PLCB1_uc002wnc.1_Missense_Mutation_p.P551Q|PLCB1_uc002wnd.1_Missense_Mutation_p.P229Q NM_015192 NP_056007 Q9NQ66 PLCB1_HUMAN phosphoinositide-specific phospholipase C beta 1 652 PI-PLC Y-box. activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1) 12 AGATTGAAGCCAGAGTTCATG 0.423 NA 15 67 2.32e-05 4.66e-05 1 0 NINL 22981 broad.mit.edu 37 20 25457633 25457633 + Missense_Mutation SNP G G A TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr20:25457633G>A uc002wux.1 - 17 2368 c.2294C>T c.(2293-2295)CCG>CTG p.P765L NINL_uc010gdn.1_Intron NM_025176 NP_079452 Q9Y2I6 NINL_HUMAN ninein-like 765 G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 GGGTCCCTGCGGCGGCTCCTC 0.692 NA 12 7 0 0 0 0 DIDO1 11083 broad.mit.edu 37 20 61512690 61512690 + Nonsense_Mutation SNP G G A TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr20:61512690G>A uc002ydr.1 - 16 4882 c.4618C>T c.(4618-4620)CAG>TAG p.Q1540* DIDO1_uc002yds.1_Nonsense_Mutation_p.Q1540* NM_033081 NP_149072 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 isoform c 1540 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(3)|skin(3) 6 Breast(26;5.68e-08) TCTGCAGACTGCTGCTCTTGC 0.667 NA 45 54 0 0 0 0 DIDO1 11083 broad.mit.edu 37 20 61542922 61542922 + Missense_Mutation SNP C C T TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr20:61542922C>T uc002ydr.1 - 3 307 c.43G>A c.(43-45)GCC>ACC p.A15T DIDO1_uc002yds.1_Missense_Mutation_p.A15T|DIDO1_uc002ydt.1_Missense_Mutation_p.A15T|DIDO1_uc002ydu.1_Missense_Mutation_p.A15T|DIDO1_uc002ydv.1_Missense_Mutation_p.A15T|DIDO1_uc002ydw.1_Missense_Mutation_p.A15T|DIDO1_uc002ydx.1_Missense_Mutation_p.A15T|DIDO1_uc011aao.1_Missense_Mutation_p.A15T NM_033081 NP_149072 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 isoform c 15 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(3)|skin(3) 6 Breast(26;5.68e-08) GGTTTGATGGCCTTAGGTGCC 0.542 NA 12 13 0 0 0 0 ZNF512B 57473 broad.mit.edu 37 20 62597655 62597655 + Silent SNP G G T TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr20:62597655G>T uc002yhl.1 - 5 927 c.873C>A c.(871-873)ACC>ACA p.T291T NM_020713 NP_065764 Q96KM6 Z512B_HUMAN zinc finger protein 512B 291 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08) TCACTGGCTTGGTGACCGGCA 0.557 NA 8 214 0.000219431 0.000438281 1 0 U2AF1 7307 broad.mit.edu 37 21 44524445 44524445 + Missense_Mutation SNP T T G TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr21:44524445T>G uc002zda.1 - 2 196 c.112A>C c.(112-114)AAT>CAT p.N38H U2AF1_uc002zcy.1_5'UTR|U2AF1_uc002zcz.1_5'UTR|U2AF1_uc002zdb.1_Missense_Mutation_p.N38H|U2AF1_uc010gpi.1_Missense_Mutation_p.N38H|U2AF1_uc002zdc.1_Missense_Mutation_p.N38H NM_001025203 NP_001020374 Q01081 U2AF1_HUMAN U2 small nuclear RNA auxillary factor 1 isoform 38 C3H1-type 1. mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription Cajal body|catalytic step 2 spliceosome|nuclear speck nucleotide binding|RNA binding|zinc ion binding 0 GTCGGTTTATTGTGCAACCGA 0.343 NA 6 16 0 0 0 0 EP300 2033 broad.mit.edu 37 22 41564727 41564727 + Missense_Mutation SNP T T G TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr22:41564727T>G uc003azl.3 + 25 4423 c.4028T>G c.(4027-4029)TTT>TGT p.F1343C NM_001429 NP_001420 Q09472 EP300_HUMAN E1A binding protein p300 1343 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1) 64 TTGTATAGGTTTGTGGACAGT 0.443 NA T| N|F|Mis|O MLL|RUNXBP2 colorectal|breast|pancreatic|AML|ALL|DLBCL Rubinstein-Taybi_syndrome 17 46 0 0 0 0 PLCL2 23228 broad.mit.edu 37 3 17084400 17084400 + Missense_Mutation SNP C C T TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr3:17084400C>T uc011awc.1 + 7 3134 c.3029C>T c.(3028-3030)GCA>GTA p.A1010V PLCL2_uc011awd.1_Missense_Mutation_p.A892V NM_001144382 NP_001137854 Q9UPR0 PLCL2_HUMAN phospholipase C-like 2 isoform 1 1018 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity skin(2)|ovary(1)|lung(1) 4 ATTGAAAATGCAGATGCTGTA 0.403 NA 30 41 0 0 0 0 SMARCC1 6599 broad.mit.edu 37 3 47703871 47703871 + Missense_Mutation SNP G G A TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr3:47703871G>A uc003crq.2 - 20 2229 c.2111C>T c.(2110-2112)TCT>TTT p.S704F SMARCC1_uc011bbc.1_RNA|SMARCC1_uc011bbd.1_Missense_Mutation_p.S595F NM_003074 NP_003065 Q92922 SMRC1_HUMAN SWI/SNF-related matrix-associated 704 chromatin remodeling|nervous system development|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex DNA binding|protein N-terminus binding|transcription coactivator activity skin(2)|lung(1) 3 BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) GTCCACCACAGATGCCAAAAA 0.493 NA 9 21 0 0 0 0 ERC2 26059 broad.mit.edu 37 3 56468821 56468821 + Nonsense_Mutation SNP G G T TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr3:56468821G>T uc003dhr.1 - 2 471 c.215C>A c.(214-216)TCA>TAA p.S72* NM_015576 NP_056391 O15083 ERC2_HUMAN cytomatrix protein p110 72 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) GTAGGTTGTTGAAGCCACCCC 0.507 NA 46 70 6.77e-33 1.43e-32 1 0 CLSTN2 64084 broad.mit.edu 37 3 140251315 140251315 + Silent SNP C C A TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr3:140251315C>A uc003etn.2 + 9 1684 c.1494C>A c.(1492-1494)GGC>GGA p.G498G CLSTN2_uc003etm.2_Silent_p.G498G NM_022131 NP_071414 Q9H4D0 CSTN2_HUMAN calsyntenin 2 precursor 498 Extracellular (Potential). homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1) 7 TCACAGTCGGCGCTTGTTGGC 0.443 NA HNSCC(16;0.037) 24 72 0.000117367 0.000235046 1 0 YEATS2 55689 broad.mit.edu 37 3 183469895 183469895 + Missense_Mutation SNP G G A TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr3:183469895G>A uc003fly.2 + 10 1199 c.1004G>A c.(1003-1005)GGA>GAA p.G335E NM_018023 NP_060493 Q9ULM3 YETS2_HUMAN YEATS domain containing 2 335 histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex TBP-class protein binding ovary(3)|large_intestine(1) 4 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) CATTCTCTCGGAGAAGACTGT 0.493 NA 49 117 0 0 0 0 EIF4G1 1981 broad.mit.edu 37 3 184043328 184043328 + Nonsense_Mutation SNP G G T TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr3:184043328G>T uc003fnp.2 + 20 3220 c.3022G>T c.(3022-3024)GAG>TAG p.E1008* EIF4G1_uc003fnt.2_Nonsense_Mutation_p.E719*|EIF4G1_uc003fnq.2_Nonsense_Mutation_p.E921*|EIF4G1_uc003fnr.2_Nonsense_Mutation_p.E844*|EIF4G1_uc010hxx.2_Nonsense_Mutation_p.E1015*|EIF4G1_uc003fns.2_Nonsense_Mutation_p.E968*|EIF4G1_uc010hxy.2_Nonsense_Mutation_p.E1015*|EIF4G1_uc003fnv.3_Nonsense_Mutation_p.E1009*|EIF4G1_uc003fnu.3_Nonsense_Mutation_p.E1008*|EIF4G1_uc003fnw.2_Nonsense_Mutation_p.E1015*|EIF4G1_uc003fnx.2_Nonsense_Mutation_p.E813*|EIF4G1_uc003fny.3_Nonsense_Mutation_p.E812*|SNORD66_uc003fnz.2_5'Flank NM_198241 NP_937884 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 1008 eIF3/EIF4A-binding. insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GATCCATAAGGAGGCTGAGAT 0.587 NA 48 122 5.49e-27 1.15e-26 1 0 EIF4G1 1981 broad.mit.edu 37 3 184045463 184045463 + Missense_Mutation SNP G G C TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr3:184045463G>C uc003fnp.2 + 25 3949 c.3751G>C c.(3751-3753)GAG>CAG p.E1251Q EIF4G1_uc003fnt.2_Missense_Mutation_p.E962Q|EIF4G1_uc003fnq.2_Missense_Mutation_p.E1164Q|EIF4G1_uc003fnr.2_Missense_Mutation_p.E1087Q|EIF4G1_uc010hxx.2_Missense_Mutation_p.E1258Q|EIF4G1_uc003fns.2_Missense_Mutation_p.E1211Q|EIF4G1_uc010hxy.2_Missense_Mutation_p.E1258Q|EIF4G1_uc003fnv.3_Missense_Mutation_p.E1252Q|EIF4G1_uc003fnu.3_Missense_Mutation_p.E1251Q|EIF4G1_uc003fnw.2_Missense_Mutation_p.E1258Q|EIF4G1_uc003fnx.2_Missense_Mutation_p.E1056Q|EIF4G1_uc003fny.3_Missense_Mutation_p.E1055Q|EIF4G1_uc003foa.2_5'Flank NM_198241 NP_937884 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 1251 MI. insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GGCTATCATTGAGGAATATCT 0.557 NA 28 74 0 0 0 0 HRG 3273 broad.mit.edu 37 3 186392970 186392970 + Silent SNP C C T rs151028119 TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr3:186392970C>T uc003fqq.2 + 6 755 c.732C>T c.(730-732)TTC>TTT p.F244F NM_000412 NP_000403 P04196 HRG_HUMAN histidine-rich glycoprotein precursor 244 Cystatin 2. fibrinolysis|platelet activation|platelet degranulation extracellular region|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding ovary(1)|central_nervous_system(1) 2 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0683) GTGAAGTCTTCGACCCTCAGG 0.428 NA 28 243 0 0 0 0 LRRC33 375387 broad.mit.edu 37 3 196381413 196381413 + Missense_Mutation SNP G G A TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr3:196381413G>A uc003fwv.2 + 2 107 c.3G>A c.(1-3)ATG>ATA p.M1I NM_198565 NP_940967 Q86YC3 LRC33_HUMAN leucine rich repeat containing 33 precursor 1 integral to membrane ovary(2)|central_nervous_system(1) 3 all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00326) CCCTTGAGATGGAGTTGCTGC 0.567 NA 13 58 0 0 0 0 FRYL 285527 broad.mit.edu 37 4 48622739 48622739 + Silent SNP G G A TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr4:48622739G>A uc003gyh.1 - 6 836 c.231C>T c.(229-231)ACC>ACT p.T77T FRYL_uc003gyk.2_Silent_p.T77T|FRYL_uc003gyl.1_Silent_p.T128T|FRYL_uc003gym.1_Silent_p.T77T NM_015030 NP_055845 O94915 FRYL_HUMAN furry-like 77 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding skin(1) 1 AGTCAAACAAGGTGCGAAGTA 0.398 NA 26 48 0 0 0 0 HELQ 113510 broad.mit.edu 37 4 84352817 84352817 + Silent SNP C C T TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr4:84352817C>T uc003hom.2 - 11 2474 c.2295G>A c.(2293-2295)AAG>AAA p.K765K HELQ_uc010ikb.2_Silent_p.K698K|HELQ_uc003hol.3_RNA|HELQ_uc010ikc.2_RNA NM_133636 NP_598375 Q8TDG4 HELQ_HUMAN DNA helicase HEL308 765 ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(1)|breast(1)|skin(1) 3 AGAAAAATACCTTCAAACCAA 0.289 NA Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function 12 29 0 0 0 0 WDFY3 23001 broad.mit.edu 37 4 85707147 85707147 + Silent SNP T T C TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr4:85707147T>C uc003hpd.2 - 24 4455 c.4047A>G c.(4045-4047)AAA>AAG p.K1349K NM_014991 NP_055806 Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 isoform 1349 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding ovary(2)|central_nervous_system(1) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) TAGCAATGGCTTTGCTATCCA 0.418 NA 24 46 0 0 0 0 AFF1 4299 broad.mit.edu 37 4 87968051 87968051 + Missense_Mutation SNP T T C TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr4:87968051T>C uc003hqj.3 + 3 750 c.343T>C c.(343-345)TCC>CCC p.S115P AFF1_uc011ccx.1_Missense_Mutation_p.S56P|AFF1_uc003hqh.1_Missense_Mutation_p.S122P|AFF1_uc011ccy.1_Missense_Mutation_p.S122P|AFF1_uc011ccz.1_Missense_Mutation_p.S122P|AFF1_uc003hqk.3_Missense_Mutation_p.S115P|AFF1_uc011cda.1_Intron NM_005935 NP_005926 P51825 AFF1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 115 nucleus sequence-specific DNA binding transcription factor activity breast(1) 1 Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000233) CCACCACCAGTCCATTCACAC 0.488 NA 18 98 0 0 0 0 SPP1 6696 broad.mit.edu 37 4 88903947 88903947 + Nonsense_Mutation SNP G G T TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr4:88903947G>T uc003hra.2 + 7 1009 c.844G>T c.(844-846)GAA>TAA p.E282* SPP1_uc003hrb.2_Nonsense_Mutation_p.E255*|SPP1_uc003hrc.2_Nonsense_Mutation_p.E268*|SPP1_uc011cde.1_Nonsense_Mutation_p.E295*|SPP1_uc003hrd.2_Nonsense_Mutation_p.E241* NM_001040058 NP_001035147 P10451 OSTP_HUMAN secreted phosphoprotein 1 isoform a 282 biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D extracellular space cytokine activity ovary(1) 1 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;9.87e-05) TCACAGCCATGAAGATATGCT 0.398 NA 11 108 0.00185496 0.0036661 1 0 ENPEP 2028 broad.mit.edu 37 4 111397718 111397718 + Missense_Mutation SNP G G A TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr4:111397718G>A uc003iab.3 + 1 490 c.148G>A c.(148-150)GGG>AGG p.G50R NM_001977 NP_001968 Q07075 AMPE_HUMAN glutamyl aminopeptidase 50 Extracellular (Potential). cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding skin(3)|ovary(1)|breast(1) 5 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) CGGGGACGGCGGGCCGGGCAC 0.642 NA 38 108 0 0 0 0 RXFP3 51289 broad.mit.edu 37 5 33937017 33937017 + Missense_Mutation SNP G G T TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr5:33937017G>T uc003jic.1 + 1 529 c.172G>T c.(172-174)GAC>TAC p.D58Y NM_016568 NP_057652 Q9NSD7 RL3R1_HUMAN relaxin/insulin-like family peptide receptor 3 58 Extracellular (Potential). integral to plasma membrane N-formyl peptide receptor activity upper_aerodigestive_tract(1) 1 GGAGTTGCCGGACGGCGCGCC 0.687 NA 41 59 1.16e-17 2.41e-17 1 0 SKP2 6502 broad.mit.edu 37 5 36152987 36152987 + Silent SNP G G C TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr5:36152987G>C uc003jkc.1 + 2 305 c.123G>C c.(121-123)CTG>CTC p.L41L SKP2_uc011cou.1_5'UTR|SKP2_uc003jkd.2_Silent_p.L41L|LMBRD2_uc003jkb.1_5'Flank NM_005983 NP_005974 Q13309 SKP2_HUMAN S-phase kinase-associated protein 2 isoform 1 41 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle nucleoplasm|SCF ubiquitin ligase complex protein binding central_nervous_system(2)|ovary(1)|breast(1) 4 all_lung(31;5.63e-05) Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TCTCCGCCCTGGAGAAAGAGG 0.592 NA 14 43 0 0 0 0 CCNB1 891 broad.mit.edu 37 5 68471233 68471233 + Missense_Mutation SNP G G A TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr5:68471233G>A uc003jvm.2 + 7 1129 c.952G>A c.(952-954)GAG>AAG p.E318K CCNB1_uc011crd.1_Missense_Mutation_p.E318K|CCNB1_uc010ixb.2_Missense_Mutation_p.E318K NM_031966 NP_114172 P14635 CCNB1_HUMAN cyclin B1 318 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitotic cell cycle spindle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|mitotic spindle stabilization|positive regulation of attachment of spindle microtubules to kinetochore|positive regulation of mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of cyclin-dependent protein kinase activity condensed nuclear chromosome outer kinetochore|cytosol|microtubule organizing center|nucleoplasm|spindle pole 0 Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177) GGTTGATGTCGAGCAACATAC 0.393 NA 23 79 0 0 0 0 RGNEF 64283 broad.mit.edu 37 5 73205674 73205674 + Silent SNP C C T TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr5:73205674C>T uc011csq.1 + 33 4610 c.4599C>T c.(4597-4599)CAC>CAT p.H1533H RGNEF_uc003kcx.2_Silent_p.H1533H|RGNEF_uc010izf.2_Silent_p.H1533H|RGNEF_uc011csr.1_Silent_p.H1220H|RGNEF_uc003kcz.3_Silent_p.H497H|RGNEF_uc003kda.3_Silent_p.H453H NM_001080479 NP_001073948 Q8N1W1 RGNEF_HUMAN Rho-guanine nucleotide exchange factor 1533 Interaction with microtubules (By similarity). cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction cytoplasm|plasma membrane metal ion binding|Rho guanyl-nucleotide exchange factor activity|RNA binding 0 Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;1.25e-51) ACTGGAAGCACGGCCGGCAGA 0.706 NA 7 6 0 0 0 0 ERAP1 51752 broad.mit.edu 37 5 96121617 96121617 + Silent SNP G G A TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr5:96121617G>A uc003kmm.2 - 13 2165 c.1818C>T c.(1816-1818)GGC>GGT p.G606G ERAP1_uc003kml.2_Silent_p.G606G|ERAP1_uc010jbm.1_Silent_p.G418G|ERAP1_uc003kmn.2_Silent_p.G606G NM_001040458 NP_001035548 Q9NZ08 ERAP1_HUMAN type 1 tumor necrosis factor receptor shedding 606 Lumenal (Potential). angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding ovary(1)|pancreas(1) 2 all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244) all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071) CAATGTAATAGCCATTCATGC 0.428 NA 30 31 0 0 0 0 SEC24A 10802 broad.mit.edu 37 5 134033594 134033594 + Missense_Mutation SNP A A G TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr5:134033594A>G uc003kzs.2 + 15 2401 c.2113A>G c.(2113-2115)ATT>GTT p.I705V SEC24A_uc011cxu.1_Missense_Mutation_p.I469V NM_021982 NP_068817 O95486 SC24A_HUMAN SEC24 related gene family, member A 705 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TCCAGGTTGTATTTCTCGGTA 0.373 NA 47 50 0 0 0 0 PCDHA10 56139 broad.mit.edu 37 5 140236912 140236912 + Missense_Mutation SNP C C T TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr5:140236912C>T uc003lhx.2 + 1 1279 c.1279C>T c.(1279-1281)CGG>TGG p.R427W PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Missense_Mutation_p.R427W|PCDHA10_uc011dad.1_Missense_Mutation_p.R427W NM_018901 NP_061724 Q9Y5I2 PCDAA_HUMAN protocadherin alpha 10 isoform 1 precursor 427 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding ovary(2)|skin(2)|breast(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTGACCGCGCGGGACGGGGG 0.647 NA 8 209 0 0 0 0 HIST1H3C 8352 broad.mit.edu 37 6 26045674 26045674 + Silent SNP C C G TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr6:26045674C>G uc003nfv.2 + 1 36 c.36C>G c.(34-36)ACC>ACG p.T12T HIST1H2BB_uc003nfu.2_5'Flank NM_003531 NP_003522 P68431 H31_HUMAN histone cluster 1, H3c 12 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding ovary(1) 1 GCAAGTCTACCGGCGGCAAAG 0.547 NA 16 65 0 0 0 0 SCAND3 114821 broad.mit.edu 37 6 28541559 28541559 + Missense_Mutation SNP C C G TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr6:28541559C>G uc003nlo.2 - 4 2725 c.2107G>C c.(2107-2109)GCC>CCC p.A703P NM_052923 NP_443155 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 703 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity ovary(1) 1 tcagaaaaggcatgtcttttc 0 NA 2 9 0 0 0 0 OR2H2 7932 broad.mit.edu 37 6 29555789 29555789 + Missense_Mutation SNP G G A TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr6:29555789G>A uc003nmr.1 + 1 107 c.68G>A c.(67-69)AGG>AAG p.R23K GABBR1_uc003nmp.3_Intron NM_007160 NP_009091 O95918 OR2H2_HUMAN olfactory receptor, family 2, subfamily H, 23 Extracellular (Potential). defense response|mating|sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GGGCTGGAAAGGACTCTCTTC 0.557 NA 52 150 0 0 0 0 BAT1 7919 broad.mit.edu 37 6 31504459 31504459 + Missense_Mutation SNP A A C TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr6:31504459A>C uc003ntt.2 - 5 1065 c.434T>G c.(433-435)GTT>GGT p.V145G BAT1_uc003ntr.2_5'Flank|BAT1_uc003nts.2_Missense_Mutation_p.V145G|BAT1_uc011dnn.1_Missense_Mutation_p.V67G|BAT1_uc003ntu.2_Missense_Mutation_p.V145G|BAT1_uc003ntv.2_Missense_Mutation_p.V145G|BAT1_uc003ntw.2_Missense_Mutation_p.V145G|BAT1_uc003ntx.2_Missense_Mutation_p.V145G|BAT1_uc011dno.1_Missense_Mutation_p.V98G|BAT1_uc011dnp.1_Missense_Mutation_p.V67G|SNORD117_uc003nty.1_5'Flank|BAT1_uc011dnq.1_RNA NM_004640 NP_004631 Q13838 DX39B_HUMAN HLA-B associated transcript 1 145 Helicase ATP-binding. intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly nuclear speck|spliceosomal complex|transcription export complex ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding 0 AAAAACAGCAACCTGCCGAGC 0.498 NA 8 50 0 0 0 0 PRIM2 5558 broad.mit.edu 37 6 57512605 57512605 + Missense_Mutation SNP A A C TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr6:57512605A>C uc003pdx.2 + 15 1520 c.1433A>C c.(1432-1434)CAG>CCG p.Q478P NM_000947 NP_000938 P49643 PRI2_HUMAN DNA primase polypeptide 2 478 DNA replication, synthesis of RNA primer|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|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|nucleoplasm 4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding 0 Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193) CCAAGTGTCCAGAAAACCAAG 0.398 NA 44 429 0 0 0 0 KHDRBS2 202559 broad.mit.edu 37 6 62604557 62604557 + Nonsense_Mutation SNP C C A TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr6:62604557C>A uc003peg.2 - 6 1040 c.793G>T c.(793-795)GAA>TAA p.E265* NM_152688 NP_689901 Q5VWX1 KHDR2_HUMAN KH domain-containing, RNA-binding, signal 265 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus SH3 domain binding skin(7)|ovary(3)|liver(1) 11 BRCA - Breast invasive adenocarcinoma(397;0.149) TCATAAGCTTCATGGGCTGGA 0.478 NA 19 63 6.45e-10 1.33e-09 1 0 IRAK1BP1 134728 broad.mit.edu 37 6 79607895 79607895 + Silent SNP A A G TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr6:79607895A>G uc003pim.2 + 4 732 c.627A>G c.(625-627)AAA>AAG p.K209K IRAK1BP1_uc010kbg.1_Intron|IRAK1BP1_uc003pin.2_Silent_p.K122K NM_001010844 NP_001010844 Q5VVH5 IKBP1_HUMAN interleukin-1 receptor-associated kinase 1 209 I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus 0 all_cancers(76;0.0398)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223) BRCA - Breast invasive adenocarcinoma(397;0.21) AAGAAACAAAAGAATGGGAAG 0.388 NA 10 18 0 0 0 0 DOPEY1 23033 broad.mit.edu 37 6 83838721 83838721 + Missense_Mutation SNP G G T TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr6:83838721G>T uc003pjs.1 + 16 2095 c.1835G>T c.(1834-1836)CGA>CTA p.R612L DOPEY1_uc011dyy.1_Missense_Mutation_p.R603L|DOPEY1_uc010kbl.1_Missense_Mutation_p.R603L NM_015018 NP_055833 Q5JWR5 DOP1_HUMAN dopey family member 1 612 protein transport ovary(2)|breast(1)|central_nervous_system(1) 4 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) CAAGCAGACCGAACTGATGAT 0.458 NA 39 110 5.45e-19 1.14e-18 1 0 ASCC3 10973 broad.mit.edu 37 6 101054640 101054640 + Missense_Mutation SNP G G A rs112466876 TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr6:101054640G>A uc003pqk.2 - 32 5349 c.5020C>T c.(5020-5022)CGT>TGT p.R1674C NM_006828 NP_006819 Q8N3C0 HELC1_HUMAN activating signal cointegrator 1 complex subunit 1674 Helicase C-terminal 2. 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) TCCACATAACGTCTTGTTTTT 0.308 NA 23 63 0 0 0 0 FAM54A 113115 broad.mit.edu 37 6 136562633 136562633 + Missense_Mutation SNP G G C TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr6:136562633G>C uc010kgp.1 - 5 853 c.463C>G c.(463-465)CAG>GAG p.Q155E FAM54A_uc003qgt.1_Missense_Mutation_p.Q155E|FAM54A_uc003qgu.1_Missense_Mutation_p.Q112E NM_001099286 NP_001092756 Q6P444 FA54A_HUMAN DUF729 domain containing 1 155 skin(1) 1 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00228)|OV - Ovarian serous cystadenocarcinoma(155;0.00504) GCTGCAATCTGAGAGCGAAGA 0.343 NA 5 40 0 0 0 0 FERD3L 222894 broad.mit.edu 37 7 19184751 19184751 + Missense_Mutation SNP C C T rs71017023 TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr7:19184751C>T uc003suo.1 - 1 294 c.235G>A c.(235-237)GAA>AAA p.E79K uc003sun.1_RNA NM_152898 NP_690862 Q96RJ6 FER3L_HUMAN nephew of atonal 3 79 Poly-Glu. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding large_intestine(1) 1 cgctcctcttcctcctcctct 0.363 NA 11 19 0 0 0 0 BBS9 27241 broad.mit.edu 37 7 33573768 33573768 + Missense_Mutation SNP C C T TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr7:33573768C>T uc003tdn.1 + 21 3014 c.2501C>T c.(2500-2502)CCA>CTA p.P834L BBS9_uc003tdo.1_Missense_Mutation_p.P799L|BBS9_uc003tdp.1_Missense_Mutation_p.P829L|BBS9_uc003tdq.1_Missense_Mutation_p.P794L|BBS9_uc010kwn.1_RNA|BBS9_uc003tdr.1_Missense_Mutation_p.P358L|BBS9_uc003tds.1_Missense_Mutation_p.P257L|BBS9_uc003tdt.2_RNA NM_198428 NP_940820 Q3SYG4 PTHB1_HUMAN parathyroid hormone-responsive B1 isoform 2 834 fat cell differentiation|response to stimulus|visual perception BBSome|cilium membrane|microtubule organizing center|nucleus protein binding ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 GBM - Glioblastoma multiforme(11;0.0894) GCAGCAGCCCCACAGACCATG 0.478 NA Bardet-Biedl_syndrome 11 40 0 0 0 0 IKZF1 10320 broad.mit.edu 37 7 50467751 50467751 + Missense_Mutation SNP C C T TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr7:50467751C>T uc003tow.3 + 9 1154 c.986C>T c.(985-987)CCG>CTG p.P329L IKZF1_uc003tox.3_Missense_Mutation_p.P287L|IKZF1_uc003toy.3_Missense_Mutation_p.P287L|IKZF1_uc011kck.1_Missense_Mutation_p.P242L|IKZF1_uc003toz.3_Missense_Mutation_p.P299L|IKZF1_uc010kyx.2_Missense_Mutation_p.P69L|IKZF1_uc003tpa.3_Missense_Mutation_p.P71L NM_006060 NP_006051 Q13422 IKZF1_HUMAN zinc finger protein, subfamily 1A, 1 (Ikaros) 329 cell cycle|chromatin modification|mesoderm development cytoplasm|nucleus zinc ion binding haematopoietic_and_lymphoid_tissue(147)|lung(1) 148 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07) TCCCTGCGCCCGCTGGTGCAG 0.652 NA D ALL 10 11 0 0 0 0 DDC 1644 broad.mit.edu 37 7 50534959 50534959 + Nonsense_Mutation SNP C C A TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr7:50534959C>A uc003tpf.3 - 13 1281 c.1195G>T c.(1195-1197)GAA>TAA p.E399* DDC_uc010kza.2_Nonsense_Mutation_p.E314*|DDC_uc003tpg.3_Nonsense_Mutation_p.E399* NM_000790 NP_000781 P20711 DDC_HUMAN dopa decarboxylase (aromatic L-amino acid 399 cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion cytosol aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding ovary(2) 2 Glioma(55;0.08)|all_neural(89;0.245) Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409) ACACAGATTTCAAAGCGGGGA 0.448 NA 42 126 6.53e-18 1.37e-17 1 0 ZNF679 168417 broad.mit.edu 37 7 63720697 63720697 + Silent SNP A A G TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr7:63720697A>G uc003tsx.2 + 3 407 c.138A>G c.(136-138)TTA>TTG p.L46L NM_153363 NP_699194 Q8IYX0 ZN679_HUMAN zinc finger protein 679 46 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 ATGTGATGTTAGAGAACTACA 0.378 NA 3 74 0 0 0 0 ZAN 7455 broad.mit.edu 37 7 100349865 100349865 + Missense_Mutation SNP T T C TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr7:100349865T>C uc003uwj.2 + 14 2302 c.2137T>C c.(2137-2139)TCC>CCC p.S713P ZAN_uc003uwk.2_Missense_Mutation_p.S713P|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA NM_003386 NP_003377 Q9Y493 ZAN_HUMAN zonadhesin isoform 3 713 66 X heptapeptide repeats (approximate) (mucin-like domain).|Extracellular (Potential). binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2) 11 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) ACCCACCATCTCCCCAGAAAA 0.502 NA 5 111 0 0 0 0 LAMB1 3912 broad.mit.edu 37 7 107613482 107613482 + Missense_Mutation SNP C C A TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr7:107613482C>A uc003vew.2 - 13 1852 c.1517G>T c.(1516-1518)GGA>GTA p.G506V LAMB1_uc003vev.2_Missense_Mutation_p.G530V|LAMB1_uc003vex.2_Missense_Mutation_p.G506V|LAMB1_uc010ljn.1_Missense_Mutation_p.G592V NM_002291 NP_002282 P07942 LAMB1_HUMAN laminin, beta 1 precursor 506 Laminin EGF-like 4. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 8 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGGTCGACATCCATCCAAATC 0.458 NA 32 56 2.42e-17 5.03e-17 1 0 C7orf60 154743 broad.mit.edu 37 7 112472713 112472713 + Missense_Mutation SNP C C T TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr7:112472713C>T uc003vgo.1 - 4 618 c.491G>A c.(490-492)GGA>GAA p.G164E C7orf60_uc011kms.1_Missense_Mutation_p.G190E NM_152556 NP_689769 Q1RMZ1 CG060_HUMAN hypothetical protein LOC154743 164 ovary(2)|skin(1) 3 TCTGATTTTTCCTGAGGCTTG 0.294 NA 6 60 0 0 0 0 CA1 759 broad.mit.edu 37 8 86244757 86244757 + Missense_Mutation SNP G G T TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr8:86244757G>T uc003ydh.2 - 7 675 c.475C>A c.(475-477)CAG>AAG p.Q159K CA13_uc003ydf.1_Intron|CA1_uc010mae.1_Missense_Mutation_p.Q159K|CA1_uc003ydi.2_Missense_Mutation_p.Q159K NM_001738 NP_001729 P00915 CAH1_HUMAN carbonic anhydrase I 159 one-carbon metabolic process Golgi apparatus carbonate dehydratase activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 all_lung(136;4.89e-06) Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909) AGTACTTTCTGCAGCTTTGGG 0.328 NA 13 31 7.93e-07 1.62e-06 1 0 VPS13B 157680 broad.mit.edu 37 8 100147948 100147948 + Missense_Mutation SNP C C T TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr8:100147948C>T uc003yiv.2 + 11 1661 c.1550C>T c.(1549-1551)TCA>TTA p.S517L VPS13B_uc003yiw.2_Missense_Mutation_p.S517L|VPS13B_uc003yit.2_Missense_Mutation_p.S517L|VPS13B_uc003yiu.1_Missense_Mutation_p.S517L|VPS13B_uc003yix.1_5'Flank NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 517 protein transport ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1) 20 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) ATCTTGGATTCAACTCATCAT 0.348 NA 6 42 0 0 0 0 DPYS 1807 broad.mit.edu 37 8 105463606 105463606 + Missense_Mutation SNP C C T rs148513732 by1000genomes TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr8:105463606C>T uc003yly.3 - 2 420 c.291G>A c.(289-291)ATG>ATA p.M97I NM_001385 NP_001376 Q14117 DPYS_HUMAN dihydropyrimidinase 97 protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process cytosol dihydropyrimidinase activity|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) AATCAATAATCATGGTGGTGC 0.458 NA 43 47 0 0 0 0 WISP1 8840 broad.mit.edu 37 8 134233036 134233036 + Missense_Mutation SNP G G A TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr8:134233036G>A uc003yub.2 + 3 638 c.562G>A c.(562-564)GAC>AAC p.D188N WISP1_uc003yuc.2_Intron|WISP1_uc010meb.2_Intron|WISP1_uc010mec.2_Intron|WISP1_uc010med.2_Intron|WISP1_uc003yud.2_Intron NM_003882 NP_003873 O95388 WISP1_HUMAN WNT1 inducible signaling pathway protein 1 188 cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway extracellular region|soluble fraction insulin-like growth factor binding central_nervous_system(1)|kidney(1) 2 all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0107) ATGTGAGGACGACGCCAAGAG 0.682 NA 18 86 0 0 0 0 MOBKL2B 79817 broad.mit.edu 37 9 27455464 27455464 + Missense_Mutation SNP C C T TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr9:27455464C>T uc003zqn.2 - 2 581 c.85G>A c.(85-87)GAG>AAG p.E29K NM_024761 NP_079037 Q86TA1 MOL2B_HUMAN MOB1, Mps One Binder kinase activator-like 2B 29 metal ion binding|protein binding ovary(1)|pleura(1) 2 all_neural(11;9.12e-11) Lung(218;6.54e-05)|LUSC - Lung squamous cell carcinoma(38;0.000397) TTGTGCAGCTCAAACCTCTGT 0.552 NA 42 159 0 0 0 0 NDUFB6 4712 broad.mit.edu 37 9 32558937 32558937 + Missense_Mutation SNP T T C TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr9:32558937T>C uc003zre.1 - 3 413 c.289A>G c.(289-291)ATA>GTA p.I97V NDUFB6_uc003zrf.1_Intron NM_002493 NP_002484 O95139 NDUB6_HUMAN NADH dehydrogenase (ubiquinone) 1 beta 97 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity 0 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00199) NADH(DB00157) TTTTCAACTATGCCATATGGT 0.224 NA 32 115 0 0 0 0 MELK 9833 broad.mit.edu 37 9 36599430 36599430 + Silent SNP C C T TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr9:36599430C>T uc003zzn.2 + 7 652 c.514C>T c.(514-516)CTG>TTG p.L172L MELK_uc011lpm.1_Silent_p.L41L|MELK_uc011lpn.1_Silent_p.L172L|MELK_uc011lpo.1_5'UTR|MELK_uc010mll.2_Silent_p.L140L|MELK_uc011lpp.1_Silent_p.L124L|MELK_uc010mlm.2_Silent_p.L101L|MELK_uc011lpq.1_5'UTR|MELK_uc011lpr.1_Silent_p.L101L|MELK_uc011lps.1_Silent_p.L92L NM_014791 NP_055606 Q14680 MELK_HUMAN maternal embryonic leucine zipper kinase 172 Protein kinase. cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1) 6 Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06) STAD - Stomach adenocarcinoma(86;0.228) CTGTGGGAGTCTGGCTTATGC 0.299 NA 14 32 0 0 0 0 C9orf71 169693 broad.mit.edu 37 9 71155642 71155642 + Missense_Mutation SNP C C G TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr9:71155642C>G uc004agt.2 - 1 142 c.89G>C c.(88-90)TGG>TCG p.W30S NM_153237 NP_694969 Q8N6L7 CI071_HUMAN hypothetical protein LOC169693 30 integral to membrane 0 TATGGAGCCCCAGGAAATGAA 0.522 NA 20 42 0 0 0 0 APBA1 320 broad.mit.edu 37 9 72131514 72131514 + Missense_Mutation SNP G G A TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr9:72131514G>A uc004ahh.2 - 2 889 c.613C>T c.(613-615)CCC>TCC p.P205S NM_001163 NP_001154 Q02410 APBA1_HUMAN amyloid beta A4 precursor protein-binding, 205 axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission synaptic vesicle lung(1) 1 TCCAGCTCGGGCGCGTCCCCT 0.716 NA 7 28 0 0 0 0 LPAR1 1902 broad.mit.edu 37 9 113637831 113637831 + Missense_Mutation SNP A A G TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr9:113637831A>G uc004bfa.2 - 5 1220 c.965T>C c.(964-966)TTT>TCT p.F322S LPAR1_uc011lwm.1_Missense_Mutation_p.F323S|LPAR1_uc004bfb.2_Missense_Mutation_p.F322S|LPAR1_uc004bfc.2_Missense_Mutation_p.F322S|LPAR1_uc011lwn.1_Missense_Mutation_p.F304S|LPAR1_uc011lwo.1_Missense_Mutation_p.F323S|LPAR1_uc010mub.2_Missense_Mutation_p.F322S NM_057159 NP_476500 Q92633 LPAR1_HUMAN lysophosphatidic acid receptor 1 322 Cytoplasmic (Potential). positive regulation of I-kappaB kinase/NF-kappaB cascade cell surface|integral to plasma membrane ovary(2) 2 GATCTGCCTAAAGGTGGCGCT 0.552 NA 4 141 0 0 0 0 HSPA5 3309 broad.mit.edu 37 9 128003180 128003180 + Silent SNP G G C TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr9:128003180G>C uc004bpn.2 - 2 385 c.129C>G c.(127-129)GGC>GGG p.G43G NM_005347 NP_005338 P11021 GRP78_HUMAN heat shock 70kDa protein 5 43 anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding ovary(3)|skin(1) 4 Antihemophilic Factor(DB00025) TCTTGAACACGCCGACGCTGG 0.632 NA Prostate(1;0.17) 9 114 0 0 0 0 ODF2 4957 broad.mit.edu 37 9 131221882 131221882 + Silent SNP C C T TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr9:131221882C>T uc011mbd.1 + 3 380 c.69C>T c.(67-69)CTC>CTT p.L23L ODF2_uc011maz.1_Silent_p.L23L|ODF2_uc011mba.1_5'UTR|ODF2_uc010myb.2_5'UTR|ODF2_uc011mbb.1_5'UTR|ODF2_uc011mbc.1_5'UTR|ODF2_uc004bva.2_5'UTR|ODF2_uc004bvb.2_5'UTR|ODF2_uc011mbe.1_5'UTR|ODF2_uc004bvc.2_5'UTR|ODF2_uc010myc.2_Silent_p.L23L|ODF2_uc011mbf.1_Silent_p.L23L|ODF2_uc004bvd.3_Silent_p.L23L|ODF2_uc004bve.2_Silent_p.L23L NM_002540 NP_002531 Q5BJF6 ODFP2_HUMAN outer dense fiber of sperm tails 2 isoform 1 23 cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis centriole|cilium|cytosol|microtubule|spindle pole protein binding|structural molecule activity ovary(1) 1 TAACGAGTCTCACGCAGAAAA 0.493 NA 9 22 0 0 0 0 BAT2L1 84726 broad.mit.edu 37 9 134308054 134308054 + Missense_Mutation SNP C C T TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr9:134308054C>T uc004can.3 + 2 221 c.166C>T c.(166-168)CGC>TGC p.R56C BAT2L1_uc004cam.1_Missense_Mutation_p.R56C NM_013318 NP_037450 Q5JSZ5 PRC2B_HUMAN HLA-B associated transcript 2-like 56 protein binding 0 TGCAGCCCGGCGCATGCCACC 0.527 NA 34 33 0 0 0 0 SURF4 6836 broad.mit.edu 37 9 136234196 136234196 + Silent SNP G G A TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr9:136234196G>A uc004cdj.2 - 2 304 c.174C>T c.(172-174)ACC>ACT p.T58T SURF4_uc011mda.1_Silent_p.T49T|SURF4_uc010nal.2_Silent_p.T90T|SURF4_uc011mdb.1_Silent_p.T15T|SURF4_uc011mdc.1_Silent_p.T15T|SURF4_uc011mdd.1_Silent_p.T58T NM_033161 NP_149351 O15260 SURF4_HUMAN surfeit 4 58 endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane protein binding 0 OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05) CGCAGTTCCAGGTGGTGTCGA 0.617 NA 25 64 0 0 0 0 ZCCHC18 644353 broad.mit.edu 37 X 103359010 103359010 + Missense_Mutation SNP G G C TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chrX:103359010G>C uc011msh.1 + 3 1524 c.208G>C c.(208-210)GAG>CAG p.E70Q MCART6_uc004elu.2_Intron|ZCCHC18_uc011msg.1_Intron NM_001143978 NP_001137450 P0CG32 ZCC18_HUMAN zinc finger, CCHC domain containing 18 70 nucleic acid binding|zinc ion binding 0 CCAAGTCAATGAGGTCCTGCC 0.502 NA 7 8 0 0 0 0 PSMD10 5716 broad.mit.edu 37 X 107331314 107331314 + Missense_Mutation SNP G G A TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chrX:107331314G>A uc004enp.1 - 3 327 c.229C>T c.(229-231)CTT>TTT p.L77F PSMD10_uc004enq.1_Missense_Mutation_p.L77F|PSMD10_uc010nph.1_Intron NM_002814 NP_002805 O75832 PSD10_HUMAN proteasome 26S non-ATPase subunit 10 isoform 1 77 Interaction with RELA.|ANK 3. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cytoplasmic sequestering of NF-kappaB|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of MAPKKK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of release of cytochrome c from mitochondria|negative regulation of transcription from RNA polymerase II promoter|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus|proteasome regulatory particle transcription factor binding ovary(1) 1 GCAATATGAAGAGGAGACCAA 0.453 NA 16 27 0 0 0 0 CXorf56 63932 broad.mit.edu 37 X 118673707 118673707 + Missense_Mutation SNP C C G TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chrX:118673707C>G uc004erk.1 - 7 698 c.652G>C c.(652-654)GAC>CAC p.D218H uc004eri.2_5'Flank|CXorf56_uc004erj.1_Missense_Mutation_p.D169H|CXorf56_uc011mtu.1_Missense_Mutation_p.D204H NM_022101 NP_071384 Q9H5V9 CX056_HUMAN hypothetical protein LOC63932 218 Potential. protein binding 0 AACTGGTTGTCAATCAAGGTC 0.373 NA 9 11 0 0 0 0 CNGA2 1260 broad.mit.edu 37 X 150912370 150912370 + Missense_Mutation SNP G G C TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chrX:150912370G>C uc004fey.1 + 7 1619 c.1395G>C c.(1393-1395)GAG>GAC p.E465D NM_005140 NP_005131 Q16280 CNGA2_HUMAN cyclic nucleotide gated channel alpha 2 465 Helical; Name=H6; (Potential).|cAMP (By similarity). response to stimulus|sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(3) 3 Acute lymphoblastic leukemia(192;6.56e-05) TGCTGGTAGAGCTGGTACTGA 0.408 NA 19 30 0 0 0 0 AHNAK2 113146 broad.mit.edu 37 14 105419961 105419962 + Frame_Shift_Del DEL TG TG - TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr14:105419961_105419962delTG uc010axc.1 - 7 1946_1947 c.1826_1827delCA c.(1825-1827)ACAfs p.T609fs AHNAK2_uc001ypx.2_Frame_Shift_Del_p.T509fs NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 609 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TTCCCTGCTCTGTGTCTTCTGT 0.475 NA 10 613 --- --- --- --- NA NA NA NA ASXL3 80816 broad.mit.edu 37 18 31319985 31319986 + Frame_Shift_Ins INS - - A TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr18:31319985_31319986insA uc010dmg.1 + 11 2672_2673 c.2617_2618insA c.(2617-2619)GAAfs p.E873fs ASXL3_uc002kxq.2_Frame_Shift_Ins_p.E580fs NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 873 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 GCAAAGAACAGAAAAAAAAGTG 0.376 NA 31 39 --- --- --- --- NA NA NA NA ACSS1 84532 broad.mit.edu 37 20 25038539 25038567 + Frame_Shift_Del DEL CGGGCTGCCTGTGCACTCAGCGCGGGATA CGGGCTGCCTGTGCACTCAGCGCGGGATA - rs73348757 by1000genomes TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr20:25038539_25038567delCGGGCTGCCTGTGCACTCAGCGCGGGATA uc002wub.2 - 1 1050_1078 c.172_200delTATCCCGCGCTGAGTGCACAGGCAGCCCG c.(172-201)TATCCCGCGCTGAGTGCACAGGCAGCCCGGfs p.Y58fs ACSS1_uc002wuc.2_Frame_Shift_Del_p.Y58fs|ACSS1_uc010gdc.2_Frame_Shift_Del_p.Y58fs NM_032501 NP_115890 Q9NUB1 ACS2L_HUMAN acyl-CoA synthetase short-chain family member 1 58_67 acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process mitochondrial matrix acetate-CoA ligase activity|AMP binding|ATP binding|protein binding ovary(1)|skin(1) 2 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) GGCCGGCTCCCGGGCTGCCTGTGCACTCAGCGCGGGATACGAGCCTGGC 0.734 NA 12 34 --- --- --- --- NA NA NA NA POU4F2 5458 broad.mit.edu 37 4 147560457 147560458 + In_Frame_Ins INS - - GGC rs67907220 TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr4:147560457_147560458insGGC uc003ikv.2 + 1 413_414 c.165_166insGGC c.(163-168)insGGC p.68_69insG NM_004575 NP_004566 Q12837 PO4F2_HUMAN Brn3b POU domain transcription factor 68_69 estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter nuclear speck RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription breast(1) 1 all_hematologic(180;0.151) ACGCTggtggtggcggcggcgg 0.386 NA 6 7 --- --- --- --- NA NA NA NA POM121L12 285877 broad.mit.edu 37 7 53104149 53104149 + Frame_Shift_Del DEL C C - TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr7:53104149delC uc003tpz.2 + 1 801 c.785delC c.(784-786)TCCfs p.S262fs NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN POM121 membrane glycoprotein-like 12 262 0 CCCGCCCCATCCGCCATCTGG 0.657 NA 40 74 --- --- --- --- NA NA NA NA MLL5 55904 broad.mit.edu 37 7 104751259 104751259 + Frame_Shift_Del DEL T T - TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr7:104751259delT uc003vcm.2 + 26 4546 c.4012delT c.(4012-4014)TGTfs p.C1338fs MLL5_uc010ljc.2_Frame_Shift_Del_p.C1338fs|MLL5_uc010ljf.1_Intron|MLL5_uc010ljg.2_Frame_Shift_Del_p.C72fs|uc003vcp.1_5'Flank|MLL5_uc010ljh.1_Frame_Shift_Del_p.N101fs NM_182931 NP_891847 Q8IZD2 MLL5_HUMAN myeloid/lymphoid or mixed-lineage leukemia 5 1338 cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent MLL5-L complex|nuclear speck enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding ovary(2)|pancreas(1) 3 TACGAATGAATGTCCATCCCC 0.358 NA 55 103 --- --- --- --- NA NA NA NA BHLHE22 27319 broad.mit.edu 37 8 65493617 65493618 + In_Frame_Ins INS - - GGC TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr8:65493617_65493618insGGC uc003xvi.2 + 1 804_805 c.270_271insGGC c.(268-273)insGGC p.97_98insG LOC401463_uc003xvh.2_Intron NM_152414 NP_689627 Q8NFJ8 BHE22_HUMAN basic helix-loop-helix domain containing, class 97_98 Gly-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 gcgcgggaagtggcggcggcgg 0.584 NA 6 1 --- --- --- --- NA NA NA NA PSIP1 11168 broad.mit.edu 37 9 15469032 15469033 + Frame_Shift_Ins INS - - G TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 83f92af6-60ab-402e-8990-e1060ca3cc4c 36b8d80c-bb4c-404e-92fb-5ad87b3b5272 g.chr9:15469032_15469033insG uc003zlv.3 - 13 1458_1459 c.1128_1129insC c.(1126-1131)GCCTTGfs p.A376fs PSIP1_uc003zlw.3_Frame_Shift_Ins_p.A376fs NM_033222 NP_150091 O75475 PSIP1_HUMAN PC4 and SFRS1 interacting protein 1 isoform 2 376_377 Potential. initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|nucleoplasm|transcriptionally active chromatin activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity breast(1) 1 GBM - Glioblastoma multiforme(50;2.38e-06) AGTTCATCCAAGGCCTCAATGC 0.361 NA 17 24 --- --- --- --- NA NA NA NA