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 isArtifactMode oxoGCut pox pox_cutoff qox t_alt_count t_ref_count validation_alt_allele validation_tumor_sample CDK11B 984 broad.mit.edu 37 1 1572053 1572053 + Silent SNP C C T rs17424311 TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr1:1572053C>T uc001agv.1 - 21 2019 c.1908G>A c.(1906-1908)AAG>AAA p.K636K CDK11B_uc009vkj.2_Silent_p.K293K|CDK11B_uc001ags.1_Silent_p.K494K|CDK11B_uc001agt.1_Silent_p.K419K|CDK11B_uc001aha.1_Silent_p.K602K|CDK11B_uc001agw.1_Silent_p.K591K|CDK11B_uc001agy.1_Silent_p.K634K|CDK11B_uc001agx.1_Silent_p.K625K|CDK11B_uc001agz.1_Silent_p.K380K NM_033486 NP_277021 P21127 CD11B_HUMAN cell division cycle 2-like 1 (PITSLRE proteins) 649 Protein kinase. apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity|protein binding skin(1) 1 CCTTGAACACCTTGTTGATCT 0.607 NaN 0 0 0 0.001984 0 7 64 TNFRSF9 3604 broad.mit.edu 37 1 7993281 7993281 + Missense_Mutation SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr1:7993281G>A uc001aot.2 - 7 748 c.620C>T c.(619-621)ACG>ATG p.T207M NM_001561 NP_001552 Q07011 TNR9_HUMAN tumor necrosis factor receptor superfamily, 207 Helical; (Potential). induction of apoptosis|negative regulation of cell proliferation integral to plasma membrane binding|receptor activity large_intestine(1)|lung(1)|ovary(1)|skin(1) 4 Ovarian(185;0.0634)|all_lung(157;0.151) all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649) GAAACGGAGCGTGAGGAAGAA 0.448 NaN 0 0 0 0.000602 0 5 40 VPS13D 55187 broad.mit.edu 37 1 12378341 12378341 + Missense_Mutation SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr1:12378341C>T uc001atv.2 + 31 7502 c.7361C>T c.(7360-7362)TCT>TTT p.S2454F VPS13D_uc001atw.2_Missense_Mutation_p.S2454F|VPS13D_uc001atx.2_Missense_Mutation_p.S1642F|VPS13D_uc001aty.1_Missense_Mutation_p.S192F NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13D isoform 1 2454 protein localization ovary(4)|pancreas(1) 5 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) ACCAAGCGGTCTTCCCTTCCT 0.443 NaN 0 0 0 0.008291 0 11 93 DNAJC16 23341 broad.mit.edu 37 1 15890478 15890478 + Missense_Mutation SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr1:15890478G>A uc001aws.2 + 10 1513 c.1393G>A c.(1393-1395)GAA>AAA p.E465K DNAJC16_uc001awr.1_Missense_Mutation_p.E465K|DNAJC16_uc001awt.2_Missense_Mutation_p.E153K|DNAJC16_uc001awu.2_RNA NM_015291 NP_056106 Q9Y2G8 DJC16_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 16 465 Cytoplasmic (Potential). cell redox homeostasis|protein folding integral to membrane heat shock protein binding|unfolded protein binding urinary_tract(1)|lung(1)|kidney(1) 3 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657) TAAAACCCTGGAAGACCCTTG 0.453 NaN 0 0 0 0.00278 0 24 206 DNAJC16 23341 broad.mit.edu 37 1 15894468 15894468 + Missense_Mutation SNP G G C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr1:15894468G>C uc001aws.2 + 15 2265 c.2145G>C c.(2143-2145)AAG>AAC p.K715N DNAJC16_uc001awt.2_Missense_Mutation_p.K403N|DNAJC16_uc001awu.2_RNA NM_015291 NP_056106 Q9Y2G8 DJC16_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 16 715 Extracellular (Potential). cell redox homeostasis|protein folding integral to membrane heat shock protein binding|unfolded protein binding urinary_tract(1)|lung(1)|kidney(1) 3 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657) AGCCCCAAAAGACAGTCGAAG 0.488 NaN 0 0 0 0.010729 0 12 100 DNAJC16 23341 broad.mit.edu 37 1 15894475 15894475 + Missense_Mutation SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr1:15894475G>A uc001aws.2 + 15 2272 c.2152G>A c.(2152-2154)GAA>AAA p.E718K DNAJC16_uc001awt.2_Missense_Mutation_p.E406K|DNAJC16_uc001awu.2_RNA NM_015291 NP_056106 Q9Y2G8 DJC16_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 16 718 Poly-Glu.|Extracellular (Potential). cell redox homeostasis|protein folding integral to membrane heat shock protein binding|unfolded protein binding urinary_tract(1)|lung(1)|kidney(1) 3 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657) AAAGACAGTCGAAGAGGAGGA 0.498 NaN 0 0 0 0.010729 0 11 96 PUM1 9698 broad.mit.edu 37 1 31439030 31439030 + Nonsense_Mutation SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr1:31439030G>A uc001bsi.1 - 13 1998 c.1885C>T c.(1885-1887)CAG>TAG p.Q629* PUM1_uc001bsf.1_Nonsense_Mutation_p.Q295*|PUM1_uc001bsg.1_Nonsense_Mutation_p.Q442*|PUM1_uc001bsh.1_Nonsense_Mutation_p.Q629*|PUM1_uc001bsj.1_Nonsense_Mutation_p.Q603*|PUM1_uc010oga.1_Nonsense_Mutation_p.Q485*|PUM1_uc001bsk.1_Nonsense_Mutation_p.Q665*|PUM1_uc010ogb.1_Nonsense_Mutation_p.Q570* NM_014676 NP_055491 Q14671 PUM1_HUMAN pumilio 1 isoform 2 629 cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation cytosol RNA binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123) STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681) ggctggggctgaggctgCTGT 0.423 NaN 0 0 0 0.00632 0 29 98 MAP7D1 55700 broad.mit.edu 37 1 36640550 36640550 + Missense_Mutation SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr1:36640550C>T uc001bzz.2 + 6 1007 c.791C>T c.(790-792)TCT>TTT p.S264F MAP7D1_uc001caa.2_Missense_Mutation_p.S264F|MAP7D1_uc001cab.2_Intron|MAP7D1_uc001cac.2_5'UTR|MAP7D1_uc001cad.2_5'Flank NM_018067 NP_060537 Q3KQU3 MA7D1_HUMAN MAP7 domain containing 1 264 cytoplasm|spindle ovary(3)|breast(2) 5 Myeloproliferative disorder(586;0.0393) CACGTGGACTCTATAATCAAC 0.607 NaN 0 0 0 0.009096 0 4 36 THRAP3 9967 broad.mit.edu 37 1 36766675 36766675 + Missense_Mutation SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr1:36766675G>A uc001cae.3 + 10 2716 c.2492G>A c.(2491-2493)CGA>CAA p.R831Q THRAP3_uc001caf.3_Missense_Mutation_p.R831Q NM_005119 NP_005110 Q9Y2W1 TR150_HUMAN thyroid hormone receptor associated protein 3 831 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(5)|lung(3)|breast(1) 9 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GGCAGAGCTCGAGGAACCTTT 0.502 NaN T USP6 aneurysmal bone cysts 0 0 0 0.009096 0 4 41 PPCS 79717 broad.mit.edu 37 1 42922346 42922346 + Missense_Mutation SNP T T G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr1:42922346T>G uc001chl.2 + 1 174 c.110T>G c.(109-111)GTG>GGG p.V37G ZMYND12_uc001chj.2_5'Flank|ZMYND12_uc010ojt.1_5'Flank|PPCS_uc001chk.2_Intron NM_024664 NP_078940 Q9HAB8 PPCS_HUMAN phosphopantothenoylcysteine synthetase isoform 37 coenzyme biosynthetic process|pantothenate metabolic process cytosol phosphopantothenate--cysteine ligase activity 0 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GGCCGGCGGGTGGTGTTGGTT 0.711 NaN 0 0 0 0.011902 0 10 35 KIAA0467 23334 broad.mit.edu 37 1 43868912 43868912 + Missense_Mutation SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr1:43868912G>A uc009vws.1 + 2 176 c.92G>A c.(91-93)CGC>CAC p.R31H C1orf84_uc001cjh.2_Missense_Mutation_p.R31H|C1orf84_uc001cji.1_RNA Q5T011 SZT2_HUMAN Homo sapiens mRNA for KIAA0467 protein, partial cds. 31 peroxisome 0 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CGAAATGTTCGCCTGGCTTGG 0.493 NaN 0 0 0 0.001168 0 6 63 KIAA0467 23334 broad.mit.edu 37 1 43898837 43898837 + Missense_Mutation SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr1:43898837G>A uc001cjk.1 + 25 3545 c.3083G>A c.(3082-3084)CGT>CAT p.R1028H NM_015284 NP_056099 Q5T011 SZT2_HUMAN hypothetical protein LOC23334 1927 peroxisome 0 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CTGCAGGACCGTGTGGAAGTG 0.607 NaN 0 0 0 0.001855 0 13 122 TSPAN1 10103 broad.mit.edu 37 1 46650908 46650908 + Silent SNP T T C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr1:46650908T>C uc001cpd.2 + 8 1070 c.606T>C c.(604-606)AAT>AAC p.N202N TSPAN1_uc009vyd.1_Silent_p.N202N NM_005727 NP_005718 O60635 TSN1_HUMAN tetraspan 1 202 Extracellular (Potential). integral to membrane|lysosomal membrane ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) Medulloblastoma(700;0.00498)|all_neural(321;0.0212) GTTGCTTCAATCAGCTTTTGT 0.537 NaN 0 0 0 0.008871 0 19 300 CYP4A11 1579 broad.mit.edu 37 1 47395912 47395912 + Missense_Mutation SNP C C G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr1:47395912C>G uc001cqp.3 - 12 1486 c.1435G>C c.(1435-1437)GAG>CAG p.E479Q NM_000778 NP_000769 Q02928 CP4AB_HUMAN cytochrome P450, family 4, subfamily A, 479 long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding ovary(2)|skin(2) 4 NADH(DB00157) GGCAGCAGCTCAAAGCGGAGC 0.547 NaN 0 0 0 0.010729 0 11 151 C8A 731 broad.mit.edu 37 1 57347200 57347200 + Missense_Mutation SNP G G C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr1:57347200G>C uc001cyo.2 + 5 679 c.547G>C c.(547-549)GGG>CGG p.G183R NM_000562 NP_000553 P07357 CO8A_HUMAN complement component 8, alpha polypeptide 183 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular space|membrane attack complex ovary(1)|central_nervous_system(1)|skin(1) 3 GGTATACAATGGGGAATGGAG 0.463 NaN 0 0 0 0.008291 0 8 133 TXNIP 10628 broad.mit.edu 37 1 145440476 145440476 + Missense_Mutation SNP G G C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr1:145440476G>C uc001enn.3 + 5 1123 c.782G>C c.(781-783)AGG>ACG p.R261T NBPF10_uc001emp.3_Intron|TXNIP_uc001enm.1_Intron|TXNIP_uc010oys.1_Missense_Mutation_p.R206T NM_006472 NP_006463 Q9H3M7 TXNIP_HUMAN thioredoxin interacting protein 261 cell cycle|keratinocyte differentiation|transcription, DNA-dependent ubiquitin protein ligase binding ovary(2) 2 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CAGAAGATCAGGCCTTCTATC 0.488 NaN 0 0 0 0.005443 0 25 186 TXNIP 10628 broad.mit.edu 37 1 145440481 145440481 + Missense_Mutation SNP T T C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr1:145440481T>C uc001enn.3 + 5 1128 c.787T>C c.(787-789)TCT>CCT p.S263P NBPF10_uc001emp.3_Intron|TXNIP_uc001enm.1_Intron|TXNIP_uc010oys.1_Missense_Mutation_p.S208P NM_006472 NP_006463 Q9H3M7 TXNIP_HUMAN thioredoxin interacting protein 263 cell cycle|keratinocyte differentiation|transcription, DNA-dependent ubiquitin protein ligase binding ovary(2) 2 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GATCAGGCCTTCTATCCTGGG 0.493 NaN 0 0 0 0.00632 0 25 185 TCHH 7062 broad.mit.edu 37 1 152080154 152080154 + Missense_Mutation SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr1:152080154C>T uc001ezp.2 - 2 5539 c.5539G>A c.(5539-5541)GCG>ACG p.A1847T TCHH_uc009wne.1_Missense_Mutation_p.A1847T NM_007113 NP_009044 Q07283 TRHY_HUMAN trichohyalin 1847 23 X 26 AA approximate tandem repeats. keratinization cytoskeleton calcium ion binding ovary(3)|kidney(1)|central_nervous_system(1) 5 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGCTCCTCCGCCCGGTACTGC 0.572 NaN 0 0 0 0.006214 0 8 103 TCHH 7062 broad.mit.edu 37 1 152080660 152080660 + Missense_Mutation SNP T T G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr1:152080660T>G uc001ezp.2 - 2 5033 c.5033A>C c.(5032-5034)GAA>GCA p.E1678A TCHH_uc009wne.1_Missense_Mutation_p.E1678A NM_007113 NP_009044 Q07283 TRHY_HUMAN trichohyalin 1678 23 X 26 AA approximate tandem repeats. keratinization cytoskeleton calcium ion binding ovary(3)|kidney(1)|central_nervous_system(1) 5 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TTCCTCCCCTTCCTGGAGCAG 0.597 NaN 0 0 0 0.006122 0 17 170 TCHH 7062 broad.mit.edu 37 1 152084447 152084447 + Missense_Mutation SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr1:152084447C>T uc001ezp.2 - 2 1246 c.1246G>A c.(1246-1248)GAG>AAG p.E416K TCHH_uc009wne.1_Missense_Mutation_p.E416K NM_007113 NP_009044 Q07283 TRHY_HUMAN trichohyalin 416 8 X 6 AA tandem repeats of R-R-E-Q-Q-L.|2-7. keratinization cytoskeleton calcium ion binding ovary(3)|kidney(1)|central_nervous_system(1) 5 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) Agctgctgctcgcgcctcagc 0.095 NaN 0 0 0 0.000602 0 5 30 FLG2 388698 broad.mit.edu 37 1 152325730 152325730 + Nonsense_Mutation SNP G G C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr1:152325730G>C uc001ezw.3 - 3 4605 c.4532C>G c.(4531-4533)TCA>TGA p.S1511* uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 1511 calcium ion binding|structural molecule activity ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1) 17 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CGAGCCCCCTGAGTGCACTTC 0.493 NaN 0 0 0 0.01441 0 88 364 OR10J1 26476 broad.mit.edu 37 1 159409753 159409753 + Missense_Mutation SNP C C A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr1:159409753C>A uc010piv.1 + 1 205 c.205C>A c.(205-207)CCC>ACC p.P69T uc001fts.3_Intron NM_012351 NP_036483 P30954 O10J1_HUMAN olfactory receptor, family 10, subfamily J, 69 Helical; Name=2; (Potential). sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0429) TCTTCACACACCCATGTACTT 0.458 NaN 1 0 1.12685e-05 0.004482 1.18264e-05 9 160 FCGR2B 2213 broad.mit.edu 37 1 161641372 161641372 + Silent SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr1:161641372C>T uc001gaz.1 + 3 416 c.324C>T c.(322-324)AGC>AGT p.S108S FCGR2B_uc009wum.1_Silent_p.S108S|FCGR2B_uc001gay.1_Silent_p.S107S|FCGR2B_uc001gba.1_Silent_p.S107S|FCGR2B_uc001gbb.1_Silent_p.S108S|FCGR2B_uc009wun.1_Silent_p.S101S NM_004001 NP_003992 P31994 FCG2B_HUMAN Fc fragment of IgG, low affinity IIb, receptor 108 Ig-like C2-type 1.|Extracellular (Potential). immune response|interspecies interaction between organisms|regulation of immune response integral to membrane|plasma membrane IgG binding|receptor activity 0 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) ACAATGACAGCGGGGAGTACA 0.592 NaN T NaN ALL 0 0 0 0.010729 0 10 155 TOR1AIP1 26092 broad.mit.edu 37 1 179852011 179852011 + Missense_Mutation SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr1:179852011G>A uc001gnq.2 + 1 592 c.374G>A c.(373-375)CGA>CAA p.R125Q TOR1AIP1_uc001gnp.1_Missense_Mutation_p.R125Q NM_015602 NP_056417 Q5JTV8 TOIP1_HUMAN lamina-associated polypeptide 1B 125 Nuclear (Potential). integral to membrane|nuclear inner membrane breast(1)|central_nervous_system(1) 2 ATGAAGACGCGAAGGACTACC 0.587 NaN 0 0 0 0.006214 0 9 90 KIF21B 23046 broad.mit.edu 37 1 200946381 200946381 + Silent SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr1:200946381G>A uc001gvs.1 - 31 4601 c.4284C>T c.(4282-4284)TAC>TAT p.Y1428Y KIF21B_uc001gvr.1_Silent_p.Y1415Y|KIF21B_uc009wzl.1_Silent_p.Y1428Y|KIF21B_uc010ppn.1_Silent_p.Y1415Y NM_017596 NP_060066 O75037 KI21B_HUMAN kinesin family member 21B 1428 WD 3. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(3)|skin(3) 6 CCGAGGCGGCGTACAGCATGG 0.642 NaN 0 0 0 0.009096 0 4 150 ATP2B4 493 broad.mit.edu 37 1 203681223 203681223 + Missense_Mutation SNP G G C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr1:203681223G>C uc001gzw.2 + 13 3051 c.2167G>C c.(2167-2169)GAA>CAA p.E723Q ATP2B4_uc001gzv.2_Missense_Mutation_p.E723Q|ATP2B4_uc009xaq.2_Missense_Mutation_p.E723Q NM_001684 NP_001675 P23634 AT2B4_HUMAN plasma membrane calcium ATPase 4 isoform 4b 723 Cytoplasmic (Potential). ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding ovary(2)|skin(1) 3 all_cancers(21;0.071)|all_epithelial(62;0.228) BRCA - Breast invasive adenocarcinoma(75;0.109) CCTGTGCTTAGAAGGCAAAGA 0.542 NaN 0 0 0 0.006214 0 9 81 RPS6KC1 26750 broad.mit.edu 37 1 213415603 213415603 + Silent SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr1:213415603C>T uc010ptr.1 + 11 2943 c.2784C>T c.(2782-2784)CGC>CGT p.R928R RPS6KC1_uc001hkd.2_Silent_p.R916R|RPS6KC1_uc010pts.1_Silent_p.R716R|RPS6KC1_uc010ptt.1_Silent_p.R716R|RPS6KC1_uc010ptu.1_Silent_p.R747R|RPS6KC1_uc010ptv.1_Silent_p.R463R|RPS6KC1_uc001hke.2_Silent_p.R747R NM_012424 NP_036556 Q96S38 KS6C1_HUMAN ribosomal protein S6 kinase, 52kDa, polypeptide 928 Protein kinase 2. cell communication|signal transduction early endosome|membrane ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity lung(4)|ovary(3)|breast(1) 8 OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145) TTGTGTGCCGCGATTTGAACC 0.433 NaN 0 0 0 0.006214 0 9 102 LYST 1130 broad.mit.edu 37 1 235826288 235826288 + Silent SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr1:235826288C>T uc001hxj.2 - 53 11533 c.11358G>A c.(11356-11358)TTG>TTA p.L3786L LYST_uc001hxi.2_Silent_p.L1010L NM_000081 NP_000072 Q99698 LYST_HUMAN lysosomal trafficking regulator 3786 WD 7. defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding ovary(6)|breast(4)|central_nervous_system(2) 12 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) TTGGCTGTTTCAAGCGCTGCT 0.458 NaN Chediak-Higashi_syndrome 0 0 0 0.004482 0 9 118 LYST 1130 broad.mit.edu 37 1 235972124 235972124 + Missense_Mutation SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr1:235972124G>A uc001hxj.2 - 5 2169 c.1994C>T c.(1993-1995)TCA>TTA p.S665L LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Missense_Mutation_p.S665L NM_000081 NP_000072 Q99698 LYST_HUMAN lysosomal trafficking regulator 665 WD 1. defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding ovary(6)|breast(4)|central_nervous_system(2) 12 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) GGATAAACTTGAGGAGAGTTC 0.408 NaN Chediak-Higashi_syndrome 0 0 0 0.000602 0 5 70 OR2T12 127064 broad.mit.edu 37 1 248458397 248458397 + Missense_Mutation SNP G G T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr1:248458397G>T uc010pzj.1 - 1 484 c.484C>A c.(484-486)CTG>ATG p.L162M NM_001004692 NP_001004692 Q8NG77 O2T12_HUMAN olfactory receptor, family 2, subfamily T, 162 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0201) GGGAAGCTCAGGGTAGCAACA 0.577 NaN 1 0 0.00307968 0.00308 0.00312888 8 193 ITIH2 3698 broad.mit.edu 37 10 7768927 7768927 + Missense_Mutation SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr10:7768927G>A uc001ijs.2 + 10 1161 c.999G>A c.(997-999)ATG>ATA p.M333I NM_002216 NP_002207 P19823 ITIH2_HUMAN inter-alpha globulin inhibitor H2 polypeptide 333 VWFA. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(1)|pancreas(1)|skin(1) 3 TGGAAGCAATGAAGACCATAT 0.393 NaN 0 0 0 0.000602 0 5 70 FRMD4A 55691 broad.mit.edu 37 10 13712435 13712435 + Missense_Mutation SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr10:13712435C>T uc001ims.2 - 17 1697 c.1345G>A c.(1345-1347)GAT>AAT p.D449N FRMD4A_uc009xjf.1_Missense_Mutation_p.D449N|FRMD4A_uc001imt.1_Missense_Mutation_p.D482N NM_018027 NP_060497 Q9P2Q2 FRM4A_HUMAN FERM domain containing 4A 449 cytoplasm|cytoskeleton binding ovary(1)|skin(1)|pancreas(1) 3 TTCTGTTCATCCAGTTTGAAG 0.498 NaN 0 0 0 0.00245 0 15 95 FRMD4A 55691 broad.mit.edu 37 10 13712504 13712504 + Missense_Mutation SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr10:13712504C>T uc001ims.2 - 17 1628 c.1276G>A c.(1276-1278)GAA>AAA p.E426K FRMD4A_uc009xjf.1_Missense_Mutation_p.E426K|FRMD4A_uc001imt.1_Missense_Mutation_p.E459K NM_018027 NP_060497 Q9P2Q2 FRM4A_HUMAN FERM domain containing 4A 426 cytoplasm|cytoskeleton binding ovary(1)|skin(1)|pancreas(1) 3 AGGGGATATTCTACTGGCAGC 0.483 NaN 0 0 0 0.004007 0 15 110 ZNF438 220929 broad.mit.edu 37 10 31133898 31133898 + Missense_Mutation SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr10:31133898C>T uc010qdz.1 - 8 2914 c.2479G>A c.(2479-2481)GAG>AAG p.E827K ZNF438_uc001ivn.2_Missense_Mutation_p.E778K|ZNF438_uc010qdy.1_Missense_Mutation_p.E817K|ZNF438_uc001ivo.3_Missense_Mutation_p.E391K|ZNF438_uc009xlg.2_Missense_Mutation_p.E827K|ZNF438_uc001ivp.3_Missense_Mutation_p.E817K|ZNF438_uc010qea.1_Missense_Mutation_p.E827K|ZNF438_uc010qeb.1_Missense_Mutation_p.E827K NM_182755 NP_877432 Q7Z4V0 ZN438_HUMAN zinc finger protein 438 isoform a 827 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|breast(1) 2 Prostate(175;0.0587) TCTCATTTCTCAGCTTCACTG 0.512 NaN 0 0 0 0.008361 0 29 298 PARD3 56288 broad.mit.edu 37 10 34420399 34420399 + Missense_Mutation SNP G G C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr10:34420399G>C uc010qej.1 - 23 3541 c.3541C>G c.(3541-3543)CAA>GAA p.Q1181E PARD3_uc010qek.1_Missense_Mutation_p.Q1178E|PARD3_uc010qel.1_Missense_Mutation_p.Q1144E|PARD3_uc010qem.1_Missense_Mutation_p.Q1165E|PARD3_uc010qen.1_Missense_Mutation_p.Q1135E|PARD3_uc010qeo.1_Missense_Mutation_p.Q1098E|PARD3_uc010qep.1_Missense_Mutation_p.Q1091E|PARD3_uc010qeq.1_Missense_Mutation_p.Q1069E NM_019619 NP_062565 Q8TEW0 PARD3_HUMAN partitioning-defective protein 3 homolog 1181 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding ovary(1) 1 Breast(68;0.0707) ACCCAGGGTTGCTCAAAACTA 0.463 NaN 0 0 0 0.003163 0 15 57 ZNF37A 7587 broad.mit.edu 37 10 38406754 38406754 + Missense_Mutation SNP C C G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr10:38406754C>G uc001izk.2 + 8 1494 c.675C>G c.(673-675)AGC>AGG p.S225R ZNF37A_uc001izl.2_Missense_Mutation_p.S225R|ZNF37A_uc001izm.2_Missense_Mutation_p.S225R NM_001007094 NP_001007095 P17032 ZN37A_HUMAN zinc finger protein 37a 225 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1) 1 ACCCATTCAGCCAGAAGTTAA 0.348 NaN 0 0 0 0.001168 0 6 55 EIF5AL1 143244 broad.mit.edu 37 10 81272751 81272751 + Missense_Mutation SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr10:81272751G>A uc009xrx.2 + 1 395 c.346G>A c.(346-348)GAG>AAG p.E116K uc010qls.1_5'Flank NM_001099692 NP_001093162 Q6IS14 IF5AL_HUMAN eukaryotic translation initiation factor 5A-like 116 mRNA transport|peptidyl-lysine modification to hypusine|positive regulation of translational elongation|positive regulation of translational termination|protein transport|translational frameshifting|transmembrane transport endoplasmic reticulum membrane|nuclear pore ribosome binding|translation elongation factor activity 0 all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149) Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229) TCGTCTCCCTGAGGGAGACCT 0.537 NaN 0 0 0 0.00308 0 6 154 TSPAN14 81619 broad.mit.edu 37 10 82269071 82269071 + Silent SNP C C A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr10:82269071C>A uc001kcj.3 + 5 401 c.294C>A c.(292-294)ATC>ATA p.I98I TSPAN14_uc009xss.2_Intron|TSPAN14_uc001kci.3_Silent_p.I81I NM_030927 NP_112189 Q8NG11 TSN14_HUMAN tetraspanin 14 isoform 1 98 Helical; (Potential). integral to membrane ovary(1)|central_nervous_system(1) 2 Colorectal(32;0.229) GTGGCACCATCGTGCTCATCT 0.617 NaN 1 0 0.00198382 0.001984 0.00202847 7 42 CHST15 51363 broad.mit.edu 37 10 125798151 125798151 + Missense_Mutation SNP G G T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr10:125798151G>T uc001lhl.2 - 4 1583 c.1070C>A c.(1069-1071)GCC>GAC p.A357D CHST15_uc001lhm.2_Missense_Mutation_p.A357D|CHST15_uc001lhn.2_Missense_Mutation_p.A357D|CHST15_uc010que.1_Missense_Mutation_p.A357D|CHST15_uc001lho.2_Missense_Mutation_p.A357D NM_015892 NP_056976 Q7LFX5 CHSTF_HUMAN B cell RAG associated protein 357 Lumenal (Potential). hexose biosynthetic process Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity ovary(1) 1 GAACGTCCAGGCATTATTATC 0.547 NaN 1 0 3.86212e-05 0.008291 4.01358e-05 10 52 MUC5B 727897 broad.mit.edu 37 11 1264405 1264405 + Missense_Mutation SNP A A C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr11:1264405A>C uc009ycr.1 + 47 8500 c.8374A>C c.(8374-8376)ACC>CCC p.T2792P MUC5B_uc001ltb.2_Missense_Mutation_p.T2102P NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 2099 7 X Cys-rich subdomain repeats.|11 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CCCGGGGACCACCCACACCGC 0.602 NaN 0 0 0 0.007413 0 7 20 ST5 6764 broad.mit.edu 37 11 8724142 8724142 + Silent SNP G G C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr11:8724142G>C uc001mgt.2 - 14 2883 c.2697C>G c.(2695-2697)GTC>GTG p.V899V ST5_uc009yfr.2_Silent_p.V479V|ST5_uc001mgu.2_Silent_p.V479V|ST5_uc001mgv.2_Silent_p.V899V|ST5_uc010rbp.1_Silent_p.V412V|ST5_uc009yfs.2_RNA NM_213618 NP_998783 P78524 ST5_HUMAN suppression of tumorigenicity 5 isoform 1 899 DENN. positive regulation of ERK1 and ERK2 cascade protein binding upper_aerodigestive_tract(1) 1 Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352) CCACAAAAATGACCCGGCGCT 0.572 NaN 0 0 0 0.001168 0 6 89 CHRM4 1132 broad.mit.edu 37 11 46407836 46407836 + Missense_Mutation SNP A A G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr11:46407836A>G uc001nct.1 - 1 272 c.272T>C c.(271-273)GTG>GCG p.V91A NM_000741 NP_000732 P08173 ACM4_HUMAN cholinergic receptor, muscarinic 4 91 Extracellular (By similarity). cell proliferation cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity 0 GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14) Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809) GATGATGTACACGGTGTAGAG 0.577 NaN 0 0 0 0.006214 0 10 62 CABP4 57010 broad.mit.edu 37 11 67223087 67223087 + Missense_Mutation SNP G G A rs149056460 TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr11:67223087G>A uc001olo.2 + 1 270 c.193G>A c.(193-195)GAG>AAG p.E65K GPR152_uc001olm.2_5'Flank|CABP4_uc001oln.2_Intron NM_145200 NP_660201 P57796 CABP4_HUMAN calcium binding protein 4 65 visual perception cytoplasm|extracellular region|terminal button calcium ion binding 0 BRCA - Breast invasive adenocarcinoma(15;8.18e-06) GACAGGCCCCGAGGCCCCGGG 0.701 NaN 0 0 0 0.004672 0 3 24 KRTAP5-10 387273 broad.mit.edu 37 11 71276978 71276978 + Silent SNP C C T rs77786965 TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr11:71276978C>T uc001oqt.1 + 1 370 c.345C>T c.(343-345)GGC>GGT p.G115G NM_001012710 NP_001012728 Q6L8G5 KR510_HUMAN keratin associated protein 5-10 115 7 X 4 AA repeats of C-C-X-P. keratin filament skin(1) 1 GGGGCTGTGGCTCCTGTGGGG 0.652 NaN 0 0 0 0.006214 0 6 240 MTNR1B 4544 broad.mit.edu 37 11 92703069 92703069 + Silent SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr11:92703069C>T uc001pdk.1 + 1 281 c.178C>T c.(178-180)CTG>TTG p.L60L NM_005959 NP_005950 P49286 MTR1B_HUMAN melatonin receptor 1B 60 Helical; Name=1; (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission integral to plasma membrane melatonin receptor activity ovary(1)|central_nervous_system(1) 2 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) Ramelteon(DB00980) GGGCAACCTCCTGGTGATCCT 0.667 NaN 0 0 0 0.001168 0 5 13 MAML2 84441 broad.mit.edu 37 11 95724768 95724768 + Missense_Mutation SNP C C G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr11:95724768C>G uc001pfw.1 - 3 3544 c.2259G>C c.(2257-2259)TTG>TTC p.L753F NM_032427 NP_115803 Q8IZL2 MAML2_HUMAN mastermind-like 2 753 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity CRTC1/MAML2(516)|CRTC3/MAML2(26) salivary_gland(500)|lung(36)|thyroid(4)|breast(3)|skin(2)|ovary(1) 546 Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837) TCTTTCCCATCAATTGCTGAT 0.488 NaN T MECT1|CRTC3 salivary gland mucoepidermoid 0 0 0 0.006122 0 19 109 ATM 472 broad.mit.edu 37 11 108218071 108218071 + Missense_Mutation SNP G G C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 G C G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr11:108218071G>C uc001pkb.1 + 59 9035 c.8650G>C c.(8650-8652)GAA>CAA p.E2884Q ATM_uc009yxr.1_Missense_Mutation_p.E2884Q|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.1_Intron|ATM_uc001pke.1_Missense_Mutation_p.E1536Q NM_000051 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated isoform 1 2884 PI3K/PI4K. 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) GCAGTCAGCAGAACTTGTACA 0.313 NaN 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) 0 0 0 0.008291 0 11 26 BUD13 84811 broad.mit.edu 37 11 116633771 116633772 + Missense_Mutation DNP CC CC AT TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr11:116633771_116633772CC>AT uc001ppn.2 - 4 567_568 c.533_534GG>AT c.(532-534)AGG>AAT p.R178N BUD13_uc001ppo.2_Missense_Mutation_p.R178N|BUD13_uc009yzc.2_Missense_Mutation_p.R178N NM_032725 NP_116114 Q9BRD0 BUD13_HUMAN BUD13 homolog isoform 1 178 Arg-rich. large_intestine(1)|pancreas(1) 2 all_hematologic(175;0.0487) all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154) GACGGATCCTCCTGGGAGGAGA 0.584 NaN 0 0 0 0.004672 0 33 215 CXCR5 643 broad.mit.edu 37 11 118754653 118754653 + Missense_Mutation SNP G G T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr11:118754653G>T uc001pue.3 + 1 113 c.3G>T c.(1-3)ATG>ATT p.M1I NM_001716 NP_001707 P32302 CXCR5_HUMAN Burkitt lymphoma receptor 1 isoform 1 1 Extracellular (Potential). B cell activation|cellular component movement integral to plasma membrane C-X-C chemokine receptor activity breast(1) 1 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.62e-05) GCACAGCCATGAACTACCCGC 0.577 NaN 1 0 0.00909568 0.009096 0.00918231 4 16 CDON 50937 broad.mit.edu 37 11 125850958 125850958 + Missense_Mutation SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr11:125850958G>A uc009zbw.2 - 17 3390 c.3262C>T c.(3262-3264)CAT>TAT p.H1088Y CDON_uc001qdb.3_Missense_Mutation_p.H465Y|CDON_uc001qdc.3_Missense_Mutation_p.H1088Y NM_016952 NP_058648 Q4KMG0 CDON_HUMAN surface glycoprotein, Ig superfamily member 1088 Cytoplasmic (Potential). cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane protein binding ovary(3)|skin(2)|breast(1) 6 all_hematologic(175;0.177) Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604) ACTAGATGATGAGGATGTTCA 0.463 NaN 0 0 0 0.009535 0 33 85 CDON 50937 broad.mit.edu 37 11 125889616 125889616 + Missense_Mutation SNP C C G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr11:125889616C>G uc009zbw.2 - 4 522 c.394G>C c.(394-396)GAA>CAA p.E132Q CDON_uc001qdc.3_Missense_Mutation_p.E132Q|CDON_uc001qdd.3_RNA|CDON_uc009zbx.2_Missense_Mutation_p.E132Q NM_016952 NP_058648 Q4KMG0 CDON_HUMAN surface glycoprotein, Ig superfamily member 132 Extracellular (Potential).|Ig-like C2-type 2. cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane protein binding ovary(3)|skin(2)|breast(1) 6 all_hematologic(175;0.177) Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604) CTTTTTTCTTCTGCTGTAATA 0.393 NaN 0 0 0 0.00278 0 25 132 APLP2 334 broad.mit.edu 37 11 130011399 130011399 + Missense_Mutation SNP G G T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr11:130011399G>T uc010sby.1 + 16 2123 c.1966G>T c.(1966-1968)GAC>TAC p.D656Y APLP2_uc001qfp.2_Missense_Mutation_p.D644Y|APLP2_uc001qfq.2_Missense_Mutation_p.D588Y|APLP2_uc010sbz.1_Missense_Mutation_p.D444Y|APLP2_uc001qfr.2_Missense_Mutation_p.D410Y|APLP2_uc001qfs.2_Missense_Mutation_p.D415Y|APLP2_uc001qfv.2_Missense_Mutation_p.D547Y|APLP2_uc009zcv.2_Missense_Mutation_p.D4Y NM_001642 NP_001633 Q06481 APLP2_HUMAN amyloid beta (A4) precursor-like protein 2 656 Extracellular (Potential). G-protein coupled receptor protein signaling pathway integral to membrane|nucleus|plasma membrane DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity ovary(3) 3 all_hematologic(175;0.0429) Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24) TCAGGTCATTGACGAGACTCT 0.498 NaN 1 0 1.02788e-11 0.00499 1.12325e-11 17 43 PRMT8 56341 broad.mit.edu 37 12 3649787 3649787 + Missense_Mutation SNP T T C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr12:3649787T>C uc001qmf.2 + 2 458 c.91T>C c.(91-93)TCC>CCC p.S31P PRMT8_uc009zed.2_Missense_Mutation_p.S22P|PRMT8_uc009zee.1_RNA NM_019854 NP_062828 Q9NR22 ANM8_HUMAN HMT1 hnRNP methyltransferase-like 4 31 SH3-binding 1. regulation of protein binding cytoplasm|plasma membrane histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity ovary(3)|central_nervous_system(1)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264) CAGCCCCCCCTCCCAGCCCCC 0.652 NaN 0 0 0 0.00623 0 22 90 CLSTN3 9746 broad.mit.edu 37 12 7295617 7295617 + Missense_Mutation SNP A A T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr12:7295617A>T uc001qsr.2 + 11 1971 c.1693A>T c.(1693-1695)ATG>TTG p.M565L CLSTN3_uc001qss.2_Missense_Mutation_p.M577L NM_014718 NP_055533 Q9BQT9 CSTN3_HUMAN calsyntenin 3 precursor 565 Extracellular (Potential). homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding large_intestine(1) 1 GGGCAAAGGCATGAAGGTATT 0.622 NaN 0 0 0 0.00308 0 8 47 SLC2A3 6515 broad.mit.edu 37 12 8086418 8086418 + Missense_Mutation SNP A A T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr12:8086418A>T uc001qtr.2 - 2 358 c.96T>A c.(94-96)AAT>AAA p.N32K SLC2A3_uc001qts.2_Missense_Mutation_p.N32K NM_006931 NP_008862 P11169 GTR3_HUMAN solute carrier family 2 (facilitated glucose 32 Extracellular (Potential). carbohydrate metabolic process|water-soluble vitamin metabolic process integral to membrane|plasma membrane D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity ovary(3)|pancreas(1) 4 Kidney(36;0.0866) TCTCAGGAGCATTGATGACCC 0.428 NaN OREG0021656 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.001168 0 6 73 CLEC9A 283420 broad.mit.edu 37 12 10205299 10205299 + Missense_Mutation SNP G G C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr12:10205299G>C uc001qxa.2 + 4 626 c.13G>C c.(13-15)GAA>CAA p.E5Q NM_207345 NP_997228 Q6UXN8 CLC9A_HUMAN C-type lectin domain family 9, member A 5 Cytoplasmic (Potential).|ITAM-like. positive regulation of cytokine secretion|receptor-mediated endocytosis cell surface|integral to membrane receptor activity|sugar binding ovary(1) 1 GCACGAGGAAGAAATATACAC 0.448 NaN 0 0 0 0.010729 0 11 61 TAS2R31 259290 broad.mit.edu 37 12 11183288 11183288 + Missense_Mutation SNP G G C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr12:11183288G>C uc001qzo.1 - 1 719 c.647C>G c.(646-648)TCT>TGT p.S216C PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron NM_176885 NP_795366 P59538 T2R31_HUMAN taste receptor, type 2, member 31 216 Cytoplasmic (Potential). sensory perception of taste integral to membrane G-protein coupled receptor activity 0 GGGATCTTGAGATCCTTTACC 0.408 NaN 0 0 0 0.008871 0 21 283 FAM60A 58516 broad.mit.edu 37 12 31446788 31446788 + Missense_Mutation SNP C C G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr12:31446788C>G uc010sjz.1 - 4 545 c.306G>C c.(304-306)AGG>AGC p.R102S FAM60A_uc001rkd.2_Missense_Mutation_p.R102S|FAM60A_uc010ska.1_Missense_Mutation_p.R102S|FAM60A_uc001rke.2_Missense_Mutation_p.R102S|FAM60A_uc010skb.1_Intron|FAM60A_uc001rkc.2_Missense_Mutation_p.R127S NM_021238 NP_067061 Q9NP50 FA60A_HUMAN family with sequence similarity 60, member A 102 0 all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162) TGCTTTTTATCCTGTTCCCAG 0.333 NaN 0 0 0 0.001984 0 7 35 TMEM106C 79022 broad.mit.edu 37 12 48360997 48360997 + Silent SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr12:48360997C>T uc001rqp.2 + 7 724 c.609C>T c.(607-609)TTC>TTT p.F203F TMEM106C_uc001rqo.2_Silent_p.F184F|TMEM106C_uc001rqr.2_Silent_p.F203F|TMEM106C_uc001rqq.2_Silent_p.F184F NM_024056 NP_076961 Q9BVX2 T106C_HUMAN transmembrane protein 106C isoform a 203 Helical; (Potential). endoplasmic reticulum membrane|integral to membrane 0 Acute lymphoblastic leukemia(13;0.11) GBM - Glioblastoma multiforme(48;0.241) GTAGCTTCTTCTGCACGGTAC 0.488 NaN 0 0 0 0.013114 0 45 215 KRT6A 3853 broad.mit.edu 37 12 52886867 52886867 + Missense_Mutation SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr12:52886867C>T uc001sam.2 - 1 315 c.106G>A c.(106-108)GTC>ATC p.V36I NM_005554 NP_005545 P02538 K2C6A_HUMAN keratin 6A 36 Head. cell differentiation|ectoderm development|positive regulation of cell proliferation keratin filament protein binding|structural constituent of cytoskeleton ovary(4)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(357;0.189) GACACGGAGACGCTGCTGAAG 0.667 NaN 0 0 0 0.001168 0 6 164 OBFC2B 79035 broad.mit.edu 37 12 56622879 56622879 + Missense_Mutation SNP A A C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr12:56622879A>C uc001ski.2 + 7 642 c.518A>C c.(517-519)CAC>CCC p.H173P OBFC2B_uc001skk.2_Missense_Mutation_p.H198P|OBFC2B_uc001skj.2_Missense_Mutation_p.H189P NM_024068 NP_076973 Q9BQ15 SOSB1_HUMAN oligonucleotide/oligosaccharide-binding fold 173 Pro-rich. double-strand break repair via homologous recombination|G2/M transition checkpoint|response to ionizing radiation SOSS complex protein binding|single-stranded DNA binding ovary(1) 1 ACTCCCTCCCACCCACCCAGC 0.612 NaN Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function 0 0 0 0.010729 0 5 22 STAT2 6773 broad.mit.edu 37 12 56745131 56745131 + Missense_Mutation SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr12:56745131C>T uc001slc.2 - 9 964 c.886G>A c.(886-888)GGG>AGG p.G296R STAT2_uc001slb.2_5'Flank|STAT2_uc001sld.2_Missense_Mutation_p.G292R|STAT2_uc010sqn.1_Missense_Mutation_p.G292R NM_005419 NP_005410 P52630 STAT2_HUMAN signal transducer and activator of transcription 296 interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway cytosol|nucleoplasm|plasma membrane calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(1)|lung(1)|kidney(1) 3 AGGTCCACCCCTTTGGTCAGA 0.572 NaN 0 0 0 0.003954 0 27 306 LRP1 4035 broad.mit.edu 37 12 57588794 57588794 + Missense_Mutation SNP G G C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr12:57588794G>C uc001snd.2 + 51 8684 c.8218G>C c.(8218-8220)GAG>CAG p.E2740Q NM_002332 NP_002323 Q07954 LRP1_HUMAN low density lipoprotein-related protein 1 2740 Extracellular (Potential).|LDL-receptor class A 16. 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) GGCCCAGTTTGAGTGCCAGAA 0.597 NaN 0 0 0 0.013537 0 13 154 SRGAP1 57522 broad.mit.edu 37 12 64485155 64485155 + Silent SNP C C G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr12:64485155C>G uc010ssp.1 + 12 1592 c.1536C>G c.(1534-1536)GTC>GTG p.V512V SRGAP1_uc001srv.2_Intron NM_020762 NP_065813 Q7Z6B7 SRGP1_HUMAN SLIT-ROBO Rho GTPase activating protein 1 512 Rho-GAP. axon guidance cytosol ovary(2)|central_nervous_system(2) 4 GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225) GBM - Glioblastoma multiforme(28;0.0608) AAACATTCGTCAAGGTACTGG 0.483 NaN 0 0 0 0.001984 0 6 46 PTPRB 5787 broad.mit.edu 37 12 71016176 71016176 + Silent SNP A A G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr12:71016176A>G uc001swc.3 - 3 746 c.702T>C c.(700-702)ACT>ACC p.T234T PTPRB_uc001swa.3_Silent_p.T234T|PTPRB_uc001swd.3_Silent_p.T233T|PTPRB_uc009zrr.1_Silent_p.T113T|PTPRB_uc001swe.2_Silent_p.T234T NM_001109754 NP_001103224 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B Error:Variant_position_missing_in_P23467_after_alignment angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(2)|skin(1) 3 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) TTACCTCTTCAGTGGTGCTGG 0.507 NaN 0 0 0 0.006214 0 8 218 LRRIQ1 84125 broad.mit.edu 37 12 85531742 85531742 + Missense_Mutation SNP G G C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr12:85531742G>C uc001tac.2 + 19 4435 c.4324G>C c.(4324-4326)GAT>CAT p.D1442H NM_001079910 NP_001073379 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 1442 ovary(4)|central_nervous_system(1)|skin(1) 6 GBM - Glioblastoma multiforme(134;0.212) TTTTATATTTGATGAAGTAAG 0.284 NaN 0 0 0 0.006214 0 10 46 NTS 4922 broad.mit.edu 37 12 86272159 86272159 + Missense_Mutation SNP C C G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr12:86272159C>G uc001tag.2 + 3 279 c.172C>G c.(172-174)CTG>GTG p.L58V NM_006183 NP_006174 P30990 NEUT_HUMAN neurotensin/neuromedin N preproprotein 58 regulation of blood vessel size|signal transduction extracellular region|soluble fraction|transport vesicle neuropeptide hormone activity 0 GAAGATGACTCTGCTAAATGT 0.328 NaN 0 0 0 0.010729 0 11 133 MYL2 4633 broad.mit.edu 37 12 111348888 111348888 + Missense_Mutation SNP T T C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr12:111348888T>C uc001try.3 - 7 565 c.494A>G c.(493-495)AAG>AGG p.K165R MYL2_uc001trx.3_Missense_Mutation_p.K146R NM_000432 NP_000423 P10916 MLRV_HUMAN slow cardiac myosin regulatory light chain 2 165 EF-hand 3. cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis cytosol|myosin complex|sarcomere actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle ovary(1) 1 CTCCTAGTCCTTCTCTTCTCC 0.602 NaN 0 0 0 0.004007 0 16 119 MYL2 4633 broad.mit.edu 37 12 111348892 111348892 + Missense_Mutation SNP C C G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr12:111348892C>G uc001try.3 - 7 561 c.490G>C c.(490-492)GAG>CAG p.E164Q MYL2_uc001trx.3_Missense_Mutation_p.E145Q NM_000432 NP_000423 P10916 MLRV_HUMAN slow cardiac myosin regulatory light chain 2 164 EF-hand 3. cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis cytosol|myosin complex|sarcomere actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle ovary(1) 1 TAGTCCTTCTCTTCTCCGTGG 0.607 NaN 0 0 0 0.004007 0 15 122 PIWIL1 9271 broad.mit.edu 37 12 130846097 130846097 + Missense_Mutation SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr12:130846097C>T uc001uik.2 + 16 2011 c.1921C>T c.(1921-1923)CGG>TGG p.R641W PIWIL1_uc001uij.1_Missense_Mutation_p.R641W NM_004764 NP_004755 Q96J94 PIWL1_HUMAN piwi-like 1 641 RNA-binding (By similarity).|Piwi. gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development chromatoid body|P granule mRNA binding|piRNA binding|protein binding ovary(2) 2 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05) GACAGCTGGGCGGAGGTCAAT 0.478 NaN 0 0 0 0.006122 0 17 130 MYCBP2 23077 broad.mit.edu 37 13 77672741 77672741 + Missense_Mutation SNP G G C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr13:77672741G>C uc001vkf.2 - 57 8525 c.8434C>G c.(8434-8436)CTA>GTA p.L2812V MYCBP2_uc010aev.2_Missense_Mutation_p.L2216V|MYCBP2_uc001vkg.1_Missense_Mutation_p.L335V|MYCBP2_uc010aew.2_Missense_Mutation_p.L198V NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 2812 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1) 14 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) TTTTGAGGTAGATTTTTATCA 0.473 NaN 0 0 0 0.00308 0 8 116 MBNL2 10150 broad.mit.edu 37 13 97986694 97986694 + Silent SNP G G T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr13:97986694G>T uc010aft.2 + 3 1155 c.339G>T c.(337-339)GTG>GTT p.V113V MBNL2_uc001vmz.2_Silent_p.V113V|MBNL2_uc001vna.2_Silent_p.V113V|MBNL2_uc001vnb.2_RNA|MBNL2_uc010tij.1_Silent_p.V113V NM_144778 NP_659002 Q5VZF2 MBNL2_HUMAN muscleblind-like 2 isoform 1 113 mRNA processing|regulation of RNA splicing|RNA splicing cytoplasm|nucleus RNA binding|zinc ion binding 0 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.218) TTCATCCAGTGGTGAGTACAT 0.433 NaN 1 0 0.004672 0.004672 0.00473152 3 56 MYO16 23026 broad.mit.edu 37 13 109318494 109318494 + Missense_Mutation SNP G G C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr13:109318494G>C uc001vqt.1 + 2 349 c.223G>C c.(223-225)GAA>CAA p.E75Q MYO16_uc010agk.1_Missense_Mutation_p.E97Q NM_015011 NP_055826 Q9Y6X6 MYO16_HUMAN myosin heavy chain Myr 8 75 ANK 1. cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1) 10 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) CAATGACAAAGAAGGTACATG 0.418 NaN 0 0 0 0.004672 0 3 21 OR4L1 122742 broad.mit.edu 37 14 20528361 20528361 + Missense_Mutation SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr14:20528361C>T uc001vwn.1 + 1 158 c.158C>T c.(157-159)TCA>TTA p.S53L NM_001004717 NP_001004717 Q8NH43 OR4L1_HUMAN olfactory receptor, family 4, subfamily L, 53 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) ACATGTAGGTCAACCCTTCAT 0.423 NaN 0 0 0 0.006214 0 4 125 ARHGAP5 394 broad.mit.edu 37 14 32560146 32560146 + Missense_Mutation SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr14:32560146C>T uc001wrl.2 + 2 510 c.271C>T c.(271-273)CAT>TAT p.H91Y ARHGAP5_uc001wrm.2_Missense_Mutation_p.H91Y|ARHGAP5_uc001wrn.2_Missense_Mutation_p.H91Y|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron NM_001173 NP_001025226 Q13017 RHG05_HUMAN Rho GTPase activating protein 5 isoform b 91 cell adhesion|Rho protein signal transduction cytosol|membrane GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding ovary(4)|central_nervous_system(1) 5 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) ATGCAAAATTCATGTCATTGA 0.373 NaN 0 0 0 0.001984 0 7 89 PAX9 5083 broad.mit.edu 37 14 37145475 37145475 + Nonsense_Mutation SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr14:37145475C>T uc001wty.3 + 5 1561 c.844C>T c.(844-846)CAA>TAA p.Q282* PAX9_uc010amq.2_RNA NM_006194 NP_006185 P55771 PAX9_HUMAN paired box 9 282 multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218) Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189) GBM - Glioblastoma multiforme(112;0.0181) TACCCCAGCCCAAGTGTCGCC 0.532 NaN 0 0 0 0.013537 0 13 111 DDHD1 80821 broad.mit.edu 37 14 53513571 53513571 + Missense_Mutation SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr14:53513571G>A uc001xai.2 - 13 2848 c.2618C>T c.(2617-2619)TCC>TTC p.S873F DDHD1_uc001xaj.2_Missense_Mutation_p.S852F|DDHD1_uc001xah.2_Missense_Mutation_p.S845F|DDHD1_uc001xag.2_Missense_Mutation_p.S427F NM_001160148 NP_001153620 Q8NEL9 DDHD1_HUMAN DDHD domain containing 1 isoform c 873 DDHD. lipid catabolic process cytoplasm hydrolase activity|metal ion binding ovary(2) 2 Breast(41;0.037) AACATCCAAGGATGACCAATA 0.433 NaN 0 0 0 0.010729 0 11 65 DACT1 51339 broad.mit.edu 37 14 59113460 59113460 + Missense_Mutation SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr14:59113460G>A uc001xdw.2 + 4 2283 c.2119G>A c.(2119-2121)GCG>ACG p.A707T DACT1_uc010trv.1_Missense_Mutation_p.A426T|DACT1_uc001xdx.2_Missense_Mutation_p.A670T|DACT1_uc010trw.1_Missense_Mutation_p.A426T NM_016651 NP_057735 Q9NYF0 DACT1_HUMAN dapper 1 isoform 1 707 multicellular organismal development|Wnt receptor signaling pathway cytoplasm|nucleus large_intestine(2)|lung(2)|ovary(1) 5 GCTGTACCCCGCGCCTGTGCC 0.672 NaN 0 0 0 0.00308 0 8 79 SPTB 6710 broad.mit.edu 37 14 65246625 65246625 + Missense_Mutation SNP G G C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr14:65246625G>C uc001xht.2 - 20 4345 c.4291C>G c.(4291-4293)CGA>GGA p.R1431G SPTB_uc001xhr.2_Missense_Mutation_p.R1431G|SPTB_uc001xhs.2_Missense_Mutation_p.R1431G|SPTB_uc001xhu.2_Missense_Mutation_p.R1431G|SPTB_uc010aqi.2_Missense_Mutation_p.R92G NM_000347 NP_000338 P11277 SPTB1_HUMAN spectrin beta isoform b 1431 Spectrin 11. actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton ovary(7)|skin(2)|lung(1)|central_nervous_system(1) 11 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) TCCTCTTTTCGCACATTCACT 0.478 NaN 0 0 0 0.008291 0 10 125 PTPN21 11099 broad.mit.edu 37 14 88934487 88934487 + Silent SNP G G C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr14:88934487G>C uc001xwv.3 - 19 3850 c.3519C>G c.(3517-3519)CTC>CTG p.L1173L PTPN21_uc010twc.1_Silent_p.L969L NM_007039 NP_008970 Q16825 PTN21_HUMAN protein tyrosine phosphatase, non-receptor type 1173 cytoplasm|cytoskeleton binding|protein tyrosine phosphatase activity ovary(3)|skin(1) 4 GAGCTTAGATGAGCCTGGAGC 0.468 NaN 0 0 0 0.005524 0 39 247 TYRO3 7301 broad.mit.edu 37 15 41870164 41870164 + Missense_Mutation SNP A A G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr15:41870164A>G uc001zof.1 + 19 2587 c.2363A>G c.(2362-2364)AAC>AGC p.N788S NM_006293 NP_006284 Q06418 TYRO3_HUMAN TYRO3 protein tyrosine kinase precursor 788 Protein kinase.|Cytoplasmic (Potential). integral to plasma membrane ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity ovary(3)|lung(2)|central_nervous_system(1) 6 all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117) GAACTGGAGAACATCTTGGGC 0.572 NaN 0 0 0 0.009096 0 4 109 MYO9A 4649 broad.mit.edu 37 15 72172115 72172115 + Missense_Mutation SNP C C G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr15:72172115C>G uc002atl.3 - 30 6159 c.5686G>C c.(5686-5688)GCC>CCC p.A1896P MYO9A_uc002atk.2_Missense_Mutation_p.A691P|MYO9A_uc002atm.1_Missense_Mutation_p.A692P NM_006901 NP_008832 B2RTY4 MYO9A_HUMAN myosin IXA 1896 Tail. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity ovary(1)|pancreas(1)|skin(1) 3 TCCTTCAGGGCTTTTTTAAAT 0.373 NaN 0 0 0 0.00308 0 8 58 CHRNB4 1143 broad.mit.edu 37 15 78922181 78922181 + Missense_Mutation SNP C C G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr15:78922181C>G uc002bed.1 - 5 578 c.466G>C c.(466-468)GAG>CAG p.E156Q CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_5'UTR NM_000750 NP_000741 P30926 ACHB4_HUMAN cholinergic receptor, nicotinic, beta 4 156 Extracellular (Potential). regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity 0 TACTTCACCTCAATCTTGCAG 0.567 NaN 0 0 0 0.008291 0 11 74 MSLN 10232 broad.mit.edu 37 16 816647 816647 + Missense_Mutation SNP C C G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr16:816647C>G uc002cjw.1 + 13 1285 c.1234C>G c.(1234-1236)CCT>GCT p.P412A MSLN_uc002cjt.1_Intron|MSLN_uc002cju.1_Intron|MSLN_uc010brd.1_Intron|MSLN_uc002cjv.1_Intron|MSLN_uc002cjx.1_Intron|MSLN_uc002cjy.1_Intron NM_013404 NP_037536 Q13421 MSLN_HUMAN mesothelin isoform 2 preproprotein 412 cell adhesion anchored to membrane|extracellular region|Golgi apparatus|plasma membrane pancreas(1) 1 Hepatocellular(780;0.00335) CCACAAGGCTCCTCGGCGGCC 0.632 NaN 0 0 0 0.003163 0 16 104 DOC2A 8448 broad.mit.edu 37 16 30021406 30021406 + Silent SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr16:30021406G>A uc002dvm.2 - 2 238 c.138C>T c.(136-138)GGC>GGT p.G46G uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|DOC2A_uc002dvl.2_Silent_p.G46G|DOC2A_uc002dvn.2_Silent_p.G46G|DOC2A_uc010vef.1_Intron|DOC2A_uc002dvo.2_Silent_p.G46G|DOC2A_uc002dvp.2_Silent_p.G46G|DOC2A_uc002dvq.2_Silent_p.G46G NM_003586 NP_003577 Q14183 DOC2A_HUMAN double C2-like domains, alpha 46 Interaction with UNC13D and DYNLT1. nervous system development|regulation of calcium ion-dependent exocytosis cell junction|lysosome|synaptic vesicle membrane|synaptosome calcium-dependent phospholipid binding|protein binding|transporter activity ovary(2) 2 cgccgcccccgccgcccccTT 0.567 NaN 0 0 0 0.010729 0 8 60 ADCY7 113 broad.mit.edu 37 16 50339459 50339459 + Silent SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr16:50339459C>T uc002egd.1 + 12 1909 c.1641C>T c.(1639-1641)GAC>GAT p.D547D ADCY7_uc002egc.1_Silent_p.D547D NM_001114 NP_001105 P51828 ADCY7_HUMAN adenylate cyclase 7 547 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding skin(1) 1 all_cancers(37;0.0127) GBM - Glioblastoma multiforme(240;0.195) Bromocriptine(DB01200) CGTACGATGACGAGATGCTGT 0.597 NaN 0 0 0 0.008871 0 18 179 CHD9 80205 broad.mit.edu 37 16 53341818 53341818 + Missense_Mutation SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr16:53341818G>A uc002ehb.2 + 32 7170 c.7006G>A c.(7006-7008)GTG>ATG p.V2336M CHD9_uc002egy.2_Splice_Site_p.K2335_splice|CHD9_uc002ehc.2_Splice_Site_p.K2336_splice|CHD9_uc002ehf.2_Splice_Site_p.K1449_splice|CHD9_uc010cbw.2_Missense_Mutation_p.V402M|CHD9_uc002ehg.1_Missense_Mutation_p.V343M NM_025134 NP_079410 Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 2336 Binds A/T-rich DNA. cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1) 7 all_cancers(37;0.0212) GATGTCAAAGGTGAAGAAGCA 0.473 NaN 0 0 0 0.000602 0 4 38 NAE1 8883 broad.mit.edu 37 16 66860670 66860670 + Missense_Mutation SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr16:66860670G>A uc002eqf.2 - 2 144 c.67C>T c.(67-69)CAT>TAT p.H23Y NAE1_uc002eqe.2_Missense_Mutation_p.H17Y|NAE1_uc002eqg.2_Intron|NAE1_uc010cdv.2_Missense_Mutation_p.H23Y|NAE1_uc010cdw.1_Intron NM_003905 NP_003896 Q13564 ULA1_HUMAN NEDD8 activating enzyme E1 subunit 1 isoform a 23 apoptosis|cell cycle|DNA replication|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction cytoplasm|insoluble fraction|plasma membrane catalytic activity|protein heterodimerization activity ovary(1) 1 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214) Adenosine triphosphate(DB00171) TCTTGCCCATGATCACCCCAC 0.358 NaN 0 0 0 0.006214 0 10 84 KIAA0895L 653319 broad.mit.edu 37 16 67213339 67213339 + Nonsense_Mutation SNP C C A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr16:67213339C>A uc002ert.2 - 4 1616 c.841G>T c.(841-843)GAG>TAG p.E281* KIAA0895L_uc002err.2_5'Flank|KIAA0895L_uc002ers.2_5'UTR|KIAA0895L_uc002eru.2_Nonsense_Mutation_p.E281*|EXOC3L_uc002erv.1_RNA NM_001040715 NP_001035805 Q68EN5 K895L_HUMAN hypothetical protein LOC653319 281 0 TGACCTATCTCATGCCGCAGC 0.622 NaN 1 0 3.52763e-06 0.00499 3.71453e-06 13 121 KIAA0895L 653319 broad.mit.edu 37 16 67213361 67213361 + Missense_Mutation SNP C C G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr16:67213361C>G uc002ert.2 - 4 1594 c.819G>C c.(817-819)TGG>TGC p.W273C KIAA0895L_uc002err.2_5'Flank|KIAA0895L_uc002ers.2_5'UTR|KIAA0895L_uc002eru.2_Missense_Mutation_p.W273C|EXOC3L_uc002erv.1_RNA NM_001040715 NP_001035805 Q68EN5 K895L_HUMAN hypothetical protein LOC653319 273 0 TGCCCTCCAACCAGTACTGGC 0.627 NaN 0 0 0 0.006122 0 11 105 EXOC3L 283849 broad.mit.edu 37 16 67221161 67221161 + Missense_Mutation SNP G G T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr16:67221161G>T uc002erx.1 - 5 1248 c.1007C>A c.(1006-1008)GCC>GAC p.A336D EXOC3L_uc002erv.1_RNA|EXOC3L_uc002erw.1_Intron|EXOC3L_uc002ery.1_Missense_Mutation_p.A280D|EXOC3L_uc010vje.1_Missense_Mutation_p.A275D NM_178516 NP_848611 Q86VI1 EX3L1_HUMAN exocyst complex component 3-like 336 Mediates interaction with EXOC2, EXOC4 and EXOC5 (By similarity). exocytosis|peptide hormone secretion exocyst|stored secretory granule|transport vesicle 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0021)|Epithelial(162;0.0073)|all cancers(182;0.0616) GTGCAGCAAGGCGAAGGCATC 0.627 NaN 1 0 2.17888e-05 0.006214 2.27922e-05 10 67 DPEP3 64180 broad.mit.edu 37 16 68009821 68009821 + Silent SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr16:68009821G>A uc002evc.3 - 10 1483 c.1389C>T c.(1387-1389)CTC>CTT p.L463L DPEP3_uc010cex.2_Silent_p.L462L NM_022357 NP_071752 Q9H4B8 DPEP3_HUMAN dipeptidase 3 isoform a 438 meiosis anchored to membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity breast(3) 3 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236) TCTGAGGCACGAGGTGGGAGT 0.602 NaN 0 0 0 0.00308 0 7 55 FUK 197258 broad.mit.edu 37 16 70513198 70513198 + Silent SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr16:70513198C>T uc002eyy.2 + 23 3103 c.3045C>T c.(3043-3045)CAC>CAT p.H1015H FUK_uc010cft.2_Silent_p.H1021H|FUK_uc002eyz.2_Silent_p.H506H NM_145059 NP_659496 Q8N0W3 FUK_HUMAN fucokinase 1015 cytoplasm ATP binding|fucokinase activity ovary(1) 1 Ovarian(137;0.0694) TGGCCCCCCACGTGCATGGCC 0.632 NaN 0 0 0 0.000602 0 4 75 MTHFSD 64779 broad.mit.edu 37 16 86565621 86565621 + Missense_Mutation SNP T T C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr16:86565621T>C uc002fjn.2 - 8 1199 c.1148A>G c.(1147-1149)AAG>AGG p.K383R MTHFSD_uc010voo.1_Missense_Mutation_p.K363R|MTHFSD_uc002fjo.2_Missense_Mutation_p.K220R|MTHFSD_uc002fjm.2_Missense_Mutation_p.K382R|MTHFSD_uc010vop.1_Missense_Mutation_p.K220R|MTHFSD_uc010voq.1_Missense_Mutation_p.K382R|MTHFSD_uc010vor.1_Missense_Mutation_p.K383R NM_001159377 NP_001152849 Q2M296 MTHSD_HUMAN methenyltetrahydrofolate synthetase domain 383 folic acid-containing compound biosynthetic process 5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|RNA binding 0 ACGAGGTCACTTGTCCCTCTG 0.701 NaN 0 0 0 0.004672 0 3 18 GEMIN4 50628 broad.mit.edu 37 17 649462 649462 + Silent SNP G G C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr17:649462G>C uc002frs.1 - 2 1940 c.1821C>G c.(1819-1821)CTC>CTG p.L607L NM_015721 NP_056536 P57678 GEMI4_HUMAN gemin 4 607 rRNA processing|spliceosomal snRNP assembly Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex protein binding ovary(2)|kidney(1)|skin(1) 4 Myeloproliferative disorder(207;0.204) UCEC - Uterine corpus endometrioid carcinoma (25;0.022) CGGTTTCTTTGAGGCATGACA 0.502 NaN 0 0 0 0.008871 0 18 150 PFN1 5216 broad.mit.edu 37 17 4849269 4849269 + Missense_Mutation SNP C C G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr17:4849269C>G uc002gaa.2 - 3 485 c.349G>C c.(349-351)GAA>CAA p.E117Q PFN1_uc002fzz.2_Missense_Mutation_p.E81Q NM_005022 NP_005013 P07737 PROF1_HUMAN profilin 1 117 actin cytoskeleton organization|platelet activation|platelet degranulation actin cytoskeleton|cytoplasm actin binding|proline-rich region binding 0 TGGACACCTTCTTTGCCCATC 0.552 NaN 0 0 0 0.003163 0 15 65 CAMTA2 23125 broad.mit.edu 37 17 4876139 4876139 + Missense_Mutation SNP C C G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr17:4876139C>G uc002gah.1 - 15 2536 c.2428G>C c.(2428-2430)GAG>CAG p.E810Q CAMTA2_uc010cku.1_Missense_Mutation_p.E833Q|CAMTA2_uc002gag.1_Missense_Mutation_p.E809Q|CAMTA2_uc002gai.1_Missense_Mutation_p.E812Q|CAMTA2_uc010ckv.1_Missense_Mutation_p.E457Q NM_015099 NP_055914 O94983 CMTA2_HUMAN calmodulin binding transcription activator 2 810 ANK 3. cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding ovary(1) 1 TGTAGTTCCTCAAGGCAGCGG 0.612 NaN 0 0 0 0.01441 0 50 164 FBXO39 162517 broad.mit.edu 37 17 6683806 6683806 + Missense_Mutation SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr17:6683806C>T uc010vtg.1 + 2 739 c.619C>T c.(619-621)CAC>TAC p.H207Y NM_153230 NP_694962 Q8N4B4 FBX39_HUMAN F-box protein 39 207 ovary(1)|skin(1) 2 TTTCAGCCATCACCTTGCTGT 0.493 NaN 0 0 0 0.00245 0 15 81 BCL6B 255877 broad.mit.edu 37 17 6928501 6928501 + Missense_Mutation SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr17:6928501C>T uc002geg.2 + 5 928 c.871C>T c.(871-873)CGG>TGG p.R291W BCL6B_uc010clt.1_Missense_Mutation_p.R292W NM_181844 NP_862827 Q8N143 BCL6B_HUMAN B-cell CLL/lymphoma 6, member B (zinc finger 291 nucleus zinc ion binding skin(1) 1 ACCCTCTGAACGGGCTCGTCC 0.557 NaN 0 0 0 0.006214 0 10 158 NTN1 9423 broad.mit.edu 37 17 8925911 8925911 + Missense_Mutation SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr17:8925911C>T uc002glw.3 + 2 328 c.221C>T c.(220-222)CCG>CTG p.P74L NM_004822 NP_004813 O95631 NET1_HUMAN netrin 1 precursor 74 Laminin N-terminal. apoptosis|axon guidance protein binding 0 GGCCGGCCCCCGGCGCGCTAC 0.726 NaN 0 0 0 0.004672 0 3 10 GLP2R 9340 broad.mit.edu 37 17 9729386 9729386 + Missense_Mutation SNP G G C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr17:9729386G>C uc002gmd.1 + 1 6 c.6G>C c.(4-6)AAG>AAC p.K2N GLP2R_uc010cog.1_RNA NM_004246 NP_004237 O95838 GLP2R_HUMAN glucagon-like peptide 2 receptor precursor 2 Extracellular (Potential). G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation integral to membrane|plasma membrane lung(2)|ovary(1) 3 Glucagon recombinant(DB00040) GGAAGATGAAGCTGGGATCGA 0.632 NaN 0 0 0 0.001984 0 6 26 KRTAP1-1 81851 broad.mit.edu 37 17 39197393 39197393 + Missense_Mutation SNP T T C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr17:39197393T>C uc002hvw.1 - 1 321 c.257A>G c.(256-258)TAC>TGC p.Y86C NM_030967 NP_112229 Q07627 KRA11_HUMAN keratin associated protein 1-1 86 Missing (in allele KAP1.7). extracellular region|keratin filament 0 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) GCTGGTCTGGTAGCAGCTTGG 0.587 NaN 0 0 0 0.009096 0 4 124 HDAC5 10014 broad.mit.edu 37 17 42171034 42171034 + Missense_Mutation SNP T T A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr17:42171034T>A uc002ifd.1 - 4 474 c.263A>T c.(262-264)CAG>CTG p.Q88L HDAC5_uc002ife.1_Missense_Mutation_p.Q88L|HDAC5_uc002iff.1_Missense_Mutation_p.Q89L|HDAC5_uc010czp.1_Missense_Mutation_p.Q88L|HDAC5_uc002ifh.2_Missense_Mutation_p.Q88L NM_005474 NP_005465 Q9UQL6 HDAC5_HUMAN histone deacetylase 5 isoform 1 88 Poly-Gln. B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent cytoplasm|histone deacetylase complex histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding ovary(1) 1 Breast(137;0.00637)|Prostate(33;0.0313) BRCA - Breast invasive adenocarcinoma(366;0.118) cttctgcagctgctgctgctg 0.408 NaN 0 0 0 0.004672 0 3 32 XYLT2 64132 broad.mit.edu 37 17 48431297 48431297 + Missense_Mutation SNP G G C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr17:48431297G>C uc002iqo.2 + 2 551 c.442G>C c.(442-444)GAG>CAG p.E148Q XYLT2_uc010dbo.2_RNA NM_022167 NP_071450 Q9H1B5 XYLT2_HUMAN xylosyltransferase II 148 Lumenal (Potential). glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity pancreas(1) 1 Breast(11;7.18e-19) AGGGAGCGTGGAGGGCGCCCC 0.692 NaN 0 0 0 0.004482 0 9 47 NACA2 342538 broad.mit.edu 37 17 59668370 59668370 + Missense_Mutation SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr17:59668370C>T uc002izj.2 - 1 198 c.172G>A c.(172-174)GAA>AAA p.E58K NM_199290 NP_954984 Q9H009 NACA2_HUMAN nascent-polypeptide-associated complex alpha 58 protein transport cytoplasm|nucleus ovary(1) 1 all_epithelial(1;3.12e-14) TCATCAATTTCAGCTGCTGCC 0.493 NaN 0 0 0 0.003755 0 37 165 H3F3B 3021 broad.mit.edu 37 17 73774687 73774687 + Missense_Mutation SNP C C G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr17:73774687C>G uc002jpl.2 - 4 533 c.400G>C c.(400-402)GAG>CAG p.E134Q NM_005324 NP_005315 P84243 H33_HUMAN H3 histone, family 3B 134 blood coagulation|nucleosome assembly nucleoplasm|nucleosome DNA binding ovary(1) 1 all_cancers(13;1.5e-07) all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154) TAAGCTCTCTCTCCCCGTATC 0.418 NaN 0 0 0 0.010818 0 32 132 UNC13D 201294 broad.mit.edu 37 17 73824054 73824054 + Missense_Mutation SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr17:73824054C>T uc002jpp.2 - 32 3645 c.3265G>A c.(3265-3267)GCA>ACA p.A1089T NM_199242 NP_954712 Q70J99 UN13D_HUMAN unc-13 homolog D 1089 positive regulation of exocytosis|regulation of mast cell degranulation exocytic vesicle|late endosome|lysosome|membrane|recycling endosome protein binding upper_aerodigestive_tract(1)|skin(1) 2 all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154) GGCTACGGTGCCGGCCGCAAG 0.697 NaN Familial_Hemophagocytic_Lymphohistiocytosis 0 0 0 0.004672 0 3 24 TMC6 11322 broad.mit.edu 37 17 76120607 76120607 + Missense_Mutation SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr17:76120607C>T uc002juj.1 - 7 1015 c.889G>A c.(889-891)GCG>ACG p.A297T TMC6_uc002jui.1_5'Flank|TMC6_uc010dhf.1_Missense_Mutation_p.A130T|TMC6_uc002juk.2_Missense_Mutation_p.A297T|TMC6_uc010dhg.1_Missense_Mutation_p.A297T|TMC6_uc002jul.1_Missense_Mutation_p.A297T|TMC6_uc002jum.3_Missense_Mutation_p.A88T|TMC6_uc002jun.3_Missense_Mutation_p.A297T|TMC6_uc002juo.2_Missense_Mutation_p.A70T|TMC6_uc010wtp.1_Missense_Mutation_p.A130T NM_007267 NP_009198 Q7Z403 TMC6_HUMAN transmembrane channel-like 6 297 Lumenal (Potential). endoplasmic reticulum membrane|integral to membrane 0 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) TTCCTCACCGCGCCTGTGAGG 0.697 NaN Epidermodysplasia_Verruciformis_Familial_Clustering_of 0 0 0 0.001984 0 6 38 BAHCC1 57597 broad.mit.edu 37 17 79426591 79426591 + Missense_Mutation SNP C C G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr17:79426591C>G uc002kaf.2 + 21 5866 c.5866C>G c.(5866-5868)CAG>GAG p.Q1956E BAHCC1_uc002kae.2_Missense_Mutation_p.Q1186E NM_001080519 NP_001073988 Q9P281 BAHC1_HUMAN BAH domain and coiled-coil containing 1 1956 DNA binding ovary(1) 1 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116) CTACTGGAGTCAGAAGTCTCG 0.657 NaN 0 0 0 0.003163 0 14 98 FSCN2 25794 broad.mit.edu 37 17 79503966 79503966 + Missense_Mutation SNP G G C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr17:79503966G>C uc010wup.1 + 5 1480 c.1339G>C c.(1339-1341)GAG>CAG p.E447Q FSCN2_uc010wuo.1_Missense_Mutation_p.E471Q NM_012418 NP_036550 O14926 FSCN2_HUMAN fascin 2 isoform 1 447 actin filament bundle assembly|anatomical structure morphogenesis|visual perception actin cytoskeleton|cytoplasm|stereocilium actin filament binding|protein binding, bridging 0 all_neural(118;0.0878)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371) CGAACGCGCCGAGGACTTCGT 0.761 NaN 0 0 0 0.001168 0 6 14 ENOSF1 55556 broad.mit.edu 37 18 691231 691231 + Missense_Mutation SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr18:691231C>T uc002kku.3 - 6 544 c.469G>A c.(469-471)GAT>AAT p.D157N ENOSF1_uc002kkt.3_Missense_Mutation_p.D75N|ENOSF1_uc010dke.2_RNA|ENOSF1_uc010dkf.2_Missense_Mutation_p.D178N|ENOSF1_uc002kkv.3_Missense_Mutation_p.D157N|ENOSF1_uc002kkw.3_Intron|ENOSF1_uc002kkx.3_Intron|ENOSF1_uc010wyt.1_RNA NM_017512 NP_059982 Q7L5Y1 ENOF1_HUMAN enolase superfamily 1 isoform rTS beta 157 cellular amino acid catabolic process mitochondrion isomerase activity|metal ion binding ovary(1) 1 GTCAGGACATCAGTGATGTAC 0.483 NaN 0 0 0 0.001168 0 5 83 LAMA3 3909 broad.mit.edu 37 18 21427492 21427492 + Silent SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr18:21427492G>A uc002kuq.2 + 32 4082 c.3996G>A c.(3994-3996)ACG>ACA p.T1332T LAMA3_uc002kur.2_Silent_p.T1332T NM_198129 NP_937762 Q16787 LAMA3_HUMAN laminin alpha 3 subunit isoform 1 1332 Laminin EGF-like 10.|Domain III B. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|skin(2)|central_nervous_system(1) 11 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CTCCCCGCACGGTCAGGCCCC 0.622 NaN 0 0 0 0.00308 0 8 78 SMAD7 4092 broad.mit.edu 37 18 46476250 46476250 + Missense_Mutation SNP G G C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr18:46476250G>C uc002ldg.2 - 1 832 c.545C>G c.(544-546)TCT>TGT p.S182C SMAD7_uc010xde.1_5'Flank NM_005904 NP_005895 O15105 SMAD7_HUMAN SMAD family member 7 182 MH1. adherens junction assembly|artery morphogenesis|BMP signaling pathway|cellular protein complex localization|negative regulation of BMP signaling pathway|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of peptidyl-serine phosphorylation|negative regulation of peptidyl-threonine phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of ubiquitin-protein ligase activity|pathway-restricted SMAD protein phosphorylation|positive regulation of anti-apoptosis|positive regulation of cell-cell adhesion|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein stabilization|regulation of activin receptor signaling pathway|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis centrosome|cytosol|nucleolus|plasma membrane|transcription factor complex activin binding|beta-catenin binding|I-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding 0 Colorectal(1;0.0518) CTTCCCGTAAGATTCACAGCA 0.572 NaN OREG0024975 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.000602 0 5 53 KCNG2 26251 broad.mit.edu 37 18 77659423 77659423 + Silent SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr18:77659423C>T uc010xfl.1 + 2 1008 c.1008C>T c.(1006-1008)TTC>TTT p.F336F NM_012283 NP_036415 Q9UJ96 KCNG2_HUMAN potassium voltage-gated channel, subfamily G, 336 Helical; Name=Segment S5; (Potential). energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion voltage-gated potassium channel complex delayed rectifier potassium channel activity 0 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244) TGGCGCTCTTCGCGCCACTGG 0.716 NaN 0 0 0 0.000602 0 5 11 SGTA 6449 broad.mit.edu 37 19 2762518 2762518 + Missense_Mutation SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr19:2762518C>T uc002lwi.1 - 7 769 c.622G>A c.(622-624)GAG>AAG p.E208K NM_003021 NP_003012 O43765 SGTA_HUMAN small glutamine-rich tetratricopeptide 208 interspecies interaction between organisms cytoplasm protein binding ovary(1) 1 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) CTGGGGGCCTCCCGCAGCTTC 0.647 NaN 0 0 0 0.010729 0 12 111 LRG1 116844 broad.mit.edu 37 19 4538457 4538457 + Missense_Mutation SNP G G T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr19:4538457G>T uc002mau.2 - 2 550 c.539C>A c.(538-540)CCC>CAC p.P180H PLIN5_uc002mat.1_Intron NM_052972 NP_443204 P02750 A2GL_HUMAN leucine-rich alpha-2-glycoprotein 1 precursor 180 LRR 4. extracellular region|membrane ovary(1) 1 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18) CAGCCCGGGGGGCAGTTTCCG 0.622 NaN 1 0 1.96895e-08 0.00278 2.11529e-08 25 265 FBN3 84467 broad.mit.edu 37 19 8152753 8152753 + Missense_Mutation SNP C C G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr19:8152753C>G uc002mjf.2 - 52 6596 c.6575G>C c.(6574-6576)TGT>TCT p.C2192S FBN3_uc002mje.2_Missense_Mutation_p.C31S NM_032447 NP_115823 Q75N90 FBN3_HUMAN fibrillin 3 precursor 2192 EGF-like 35; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1) 11 GCCGGCTGGACAGGTGCACAG 0.453 NaN 0 0 0 0.013537 0 12 157 MYO1F 4542 broad.mit.edu 37 19 8591788 8591788 + Missense_Mutation SNP C C G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr19:8591788C>G uc002mkg.2 - 23 2620 c.2506G>C c.(2506-2508)GAG>CAG p.E836Q NM_012335 NP_036467 O00160 MYO1F_HUMAN myosin IF 836 unconventional myosin complex actin binding|ATP binding|calmodulin binding|motor activity ovary(2)|skin(1) 3 GCGGCATCCTCTTGGAGGATG 0.627 NaN 0 0 0 0.000602 0 5 63 ZNF846 162993 broad.mit.edu 37 19 9868414 9868414 + Missense_Mutation SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr19:9868414C>T uc002mmb.1 - 6 1870 c.1339G>A c.(1339-1341)GAA>AAA p.E447K ZNF846_uc010xky.1_Intron|ZNF846_uc010xkz.1_Intron|ZNF846_uc010dww.2_Intron|ZNF846_uc002mmc.1_Missense_Mutation_p.E318K NM_001077624 NP_001071092 Q147U1 ZN846_HUMAN zinc finger protein 846 447 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 CAGGCCTTTTCTCCAGTGTGA 0.438 NaN 0 0 0 0.00499 0 17 69 TYK2 7297 broad.mit.edu 37 19 10475384 10475384 + Missense_Mutation SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr19:10475384G>A uc002moc.3 - 9 1651 c.1273C>T c.(1273-1275)CGC>TGC p.R425C TYK2_uc010dxe.2_Missense_Mutation_p.R240C|TYK2_uc002mod.2_Missense_Mutation_p.R425C NM_003331 NP_003322 P29597 TYK2_HUMAN tyrosine kinase 2 425 FERM. intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytoskeleton|cytosol|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity lung(5)|large_intestine(2)|ovary(1)|breast(1) 9 OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06) GCCGTCAGGCGGAAATAGCCG 0.672 NaN 0 0 0 0.014323 0 22 79 ARRDC2 27106 broad.mit.edu 37 19 18120728 18120728 + Silent SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr19:18120728C>T uc002nhv.2 + 5 872 c.729C>T c.(727-729)CTC>CTT p.L243L ARRDC2_uc002nhu.2_Silent_p.L238L NM_015683 NP_056498 Q8TBH0 ARRD2_HUMAN arrestin domain containing 2 isoform 1 243 pancreas(1) 1 TGGCCAGCCTCGCGGGCGAGC 0.716 NaN 0 0 0 0.00308 0 8 96 ARHGAP33 115703 broad.mit.edu 37 19 36278974 36278974 + Silent SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr19:36278974C>T uc002obs.1 + 21 3109 c.3024C>T c.(3022-3024)TAC>TAT p.Y1008Y ARHGAP33_uc002obt.1_Silent_p.Y1005Y|ARHGAP33_uc010eel.2_Intron|ARHGAP33_uc002obv.1_Silent_p.Y757Y NM_052948 NP_443180 O14559 RHG33_HUMAN sorting nexin 26 1169 cell communication|protein transport|signal transduction intracellular GTPase activator activity|phosphatidylinositol binding|protein binding skin(2)|ovary(1)|pancreas(1) 4 AGCCCCTCTACGTCAACCTAG 0.682 NaN 0 0 0 0.003163 0 15 80 LIPE 3991 broad.mit.edu 37 19 42910494 42910494 + Silent SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr19:42910494C>T uc002otr.2 - 7 2461 c.2184G>A c.(2182-2184)GGG>GGA p.G728G uc010eif.1_Intron NM_005357 NP_005348 Q05469 LIPS_HUMAN hormone-sensitive lipase 728 cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process caveola|cytosol hormone-sensitive lipase activity|protein binding ovary(1)|breast(1) 2 Prostate(69;0.00682) AGCAGAGGTTCCCGCCTGCAC 0.662 NaN 0 0 0 0.001984 0 7 42 NKPD1 284353 broad.mit.edu 37 19 45656023 45656023 + Missense_Mutation SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr19:45656023G>A uc010xxi.1 - 4 1672 c.1672C>T c.(1672-1674)CGC>TGC p.R558C NM_198478 NP_940880 NTPase, KAP family P-loop domain containing 1 0 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231) CACGGCTTGCGCGTCATCTCG 0.721 NaN 0 0 0 0.001168 0 5 16 CCDC9 26093 broad.mit.edu 37 19 47773835 47773835 + Silent SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr19:47773835G>A uc010xym.1 + 10 1182 c.975G>A c.(973-975)CCG>CCA p.P325P NM_015603 NP_056418 Q9Y3X0 CCDC9_HUMAN coiled-coil domain containing 9 325 0 all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114) OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183) CCCGGCCCCCGAAGCCCCCTA 0.642 NaN 0 0 0 0.010729 0 9 109 SIGLEC9 27180 broad.mit.edu 37 19 51628543 51628543 + Silent SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr19:51628543G>A uc002pvu.2 + 1 379 c.312G>A c.(310-312)CTG>CTA p.L104L SIGLEC9_uc010yct.1_Silent_p.L104L NM_014441 NP_055256 Q9Y336 SIGL9_HUMAN sialic acid binding Ig-like lectin 9 precursor 104 Extracellular (Potential).|Ig-like V-type. cell adhesion|cell surface receptor linked signaling pathway integral to plasma membrane sugar binding skin(1) 1 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295) ATTGCACCCTGAGCATCAGAG 0.507 NaN 0 0 0 0.006122 0 19 115 ZNF524 147807 broad.mit.edu 37 19 56113573 56113573 + Missense_Mutation SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr19:56113573G>A uc002qlk.1 + 2 178 c.95G>A c.(94-96)CGA>CAA p.R32Q FIZ1_uc002qli.3_5'Flank|FIZ1_uc002qlj.3_5'Flank NM_153219 NP_694951 Q96C55 ZN524_HUMAN zinc finger protein 524 32 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.105) CGGGGCCGCCGAGGCCGTCGT 0.682 NaN 0 0 0 0.00308 0 8 45 PEG3 5178 broad.mit.edu 37 19 57335705 57335705 + Silent SNP G G T rs141346770 by1000genomes TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr19:57335705G>T uc002qnu.2 - 1 670 c.319C>A c.(319-321)CGA>AGA p.R107R ZIM2_uc010ygq.1_5'UTR|ZIM2_uc010ygr.1_5'UTR|ZIM2_uc002qnr.2_5'UTR|ZIM2_uc002qnq.2_5'UTR|ZIM2_uc010etp.2_5'UTR|ZIM2_uc010ygs.1_5'UTR|PEG3_uc002qnt.2_Silent_p.R107R|PEG3_uc002qnv.2_Silent_p.R107R|PEG3_uc002qnw.2_5'UTR|PEG3_uc002qnx.2_5'UTR|PEG3_uc010etr.2_Silent_p.R107R NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 107 SCAN box. apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) TTTTTTGCTCGCACCCAAGGC 0.537 NaN 1 0 0.00136819 0.013537 0.00140804 13 154 ZNF551 90233 broad.mit.edu 37 19 58198725 58198725 + Missense_Mutation SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr19:58198725G>A uc002qpw.3 + 3 1257 c.1034G>A c.(1033-1035)AGG>AAG p.R345K ZNF551_uc002qpv.3_Missense_Mutation_p.R288K|ZNF776_uc002qpx.2_Intron NM_138347 NP_612356 Q7Z340 ZN551_HUMAN zinc finger protein 551 361 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) ACTGGAGAAAGGCCTTATGAA 0.468 NaN 0 0 0 0.010729 0 11 141 ZNF329 79673 broad.mit.edu 37 19 58639742 58639742 + Missense_Mutation SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr19:58639742C>T uc002qrn.2 - 4 1366 c.1129G>A c.(1129-1131)GGG>AGG p.G377R ZNF329_uc010euk.1_RNA|ZNF329_uc002qro.1_RNA|ZNF329_uc002qrp.1_RNA NM_024620 NP_078896 Q86UD4 ZN329_HUMAN zinc finger protein 329 377 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216) AAGGATTTCCCGCACTCTGCA 0.478 NaN 0 0 0 0.013537 0 12 137 TRIB2 28951 broad.mit.edu 37 2 12863643 12863643 + Silent SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr2:12863643C>T uc002rbv.3 + 2 1964 c.528C>T c.(526-528)CTC>CTT p.L176L TRIB2_uc010yjp.1_Silent_p.L40L NM_021643 NP_067675 Q92519 TRIB2_HUMAN tribbles homolog 2 176 Protein kinase. negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity cytoplasm|cytoskeleton|nucleus ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity stomach(1) 1 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) TGCGGGACCTCAAGCTGCGGA 0.562 NaN 0 0 0 0.013537 0 12 89 APOB 338 broad.mit.edu 37 2 21229266 21229266 + Missense_Mutation SNP T T A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr2:21229266T>A uc002red.2 - 26 10602 c.10474A>T c.(10474-10476)ATT>TTT p.I3492F NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 3492 Heparin-binding. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GATGACTCAATGGAAAAGTAA 0.418 NaN 0 0 0 0.006122 0 19 83 KRTCAP3 200634 broad.mit.edu 37 2 27665507 27665507 + Silent SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr2:27665507C>T uc002rks.2 + 2 107 c.90C>T c.(88-90)CAC>CAT p.H30H KRTCAP3_uc010ylr.1_Silent_p.H30H|KRTCAP3_uc002rkt.2_Silent_p.H12H NM_173853 NP_776252 Q53RY4 KCP3_HUMAN keratinocyte associated protein 3 30 Helical; (Potential). integral to membrane 0 Acute lymphoblastic leukemia(172;0.155) TGGTGGGCCACGTGAACCTGC 0.597 NaN 0 0 0 0.001168 0 6 27 FAM179A 165186 broad.mit.edu 37 2 29268244 29268244 + Missense_Mutation SNP G G A rs150801790 TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr2:29268244G>A uc010ezl.2 + 19 3041 c.2690G>A c.(2689-2691)CGT>CAT p.R897H FAM179A_uc010ymm.1_Missense_Mutation_p.R842H|FAM179A_uc002rmr.3_Missense_Mutation_p.R424H|FAM179A_uc002rms.1_Missense_Mutation_p.R195H NM_199280 NP_954974 Q6ZUX3 F179A_HUMAN hypothetical protein LOC165186 897 binding ovary(3)|skin(1) 4 CTGAGTGGCCGTGCGGTGCTG 0.612 NaN 0 0 0 0.010504 0 19 102 NLRC4 58484 broad.mit.edu 37 2 32476278 32476278 + Missense_Mutation SNP G G C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr2:32476278G>C uc002roi.2 - 4 901 c.655C>G c.(655-657)CAA>GAA p.Q219E NLRC4_uc002roj.1_Missense_Mutation_p.Q219E|NLRC4_uc010ezt.1_Intron NM_021209 NP_067032 Q9NPP4 NLRC4_HUMAN caspase recruitment domain protein 12 219 NACHT. activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis cytoplasm ATP binding|magnesium ion binding|protein homodimerization activity ovary(3)|large_intestine(1)|lung(1)|skin(1) 6 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) TCCAGGAGTTGATCACAGAGG 0.517 NaN 0 0 0 0.00245 0 15 71 CCDC88A 55704 broad.mit.edu 37 2 55566659 55566659 + Missense_Mutation SNP C C G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr2:55566659C>G uc002ryv.2 - 13 2301 c.1459G>C c.(1459-1461)GAA>CAA p.E487Q CCDC88A_uc010yoz.1_Missense_Mutation_p.E487Q|CCDC88A_uc010ypa.1_Missense_Mutation_p.E487Q|CCDC88A_uc010ypb.1_Missense_Mutation_p.E389Q NM_001135597 NP_001129069 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A isoform 1 487 Potential. activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding ovary(2)|skin(2) 4 GCATTGCCTTCTACAGAATCC 0.323 NaN 0 0 0 0.000602 0 5 61 HK2 3099 broad.mit.edu 37 2 75116424 75116424 + Missense_Mutation SNP G G C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr2:75116424G>C uc002snd.2 + 17 4354 c.2428G>C c.(2428-2430)GAG>CAG p.E810Q NM_000189 NP_000180 P52789 HXK2_HUMAN hexokinase 2 810 Catalytic. apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane ATP binding|glucokinase activity ovary(1)|lung(1) 2 CTTAGGGCTTGAGAGCACCTG 0.617 NaN 0 0 0 0.004482 0 8 44 REG1A 5967 broad.mit.edu 37 2 79348757 79348757 + Missense_Mutation SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr2:79348757C>T uc002snz.2 + 3 237 c.134C>T c.(133-135)TCC>TTC p.S45F REG1A_uc010ffx.1_Missense_Mutation_p.S45F|REG1A_uc010ysd.1_Missense_Mutation_p.S45F NM_002909 NP_002900 P05451 REG1A_HUMAN regenerating islet-derived 1 alpha precursor 45 C-type lectin. positive regulation of cell proliferation extracellular region growth factor activity|sugar binding 0 GCCTATCGCTCCTACTGCTAC 0.542 NaN 0 0 0 0.006214 0 10 480 VWA3B 200403 broad.mit.edu 37 2 98804557 98804557 + Missense_Mutation SNP G G C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr2:98804557G>C uc002syo.2 + 10 1695 c.1431G>C c.(1429-1431)GAG>GAC p.E477D VWA3B_uc010yvh.1_Missense_Mutation_p.E327D|VWA3B_uc002syj.2_RNA|VWA3B_uc002syk.1_Intron|VWA3B_uc002syl.1_Intron|VWA3B_uc002sym.2_Missense_Mutation_p.E477D|VWA3B_uc002syn.1_Intron|VWA3B_uc010yvi.1_Missense_Mutation_p.E134D NM_144992 NP_659429 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 477 ovary(3)|large_intestine(2)|skin(1) 6 GGTACAGTGAGAGAATCCACA 0.502 NaN 0 0 0 0.010504 0 20 95 LONRF2 164832 broad.mit.edu 37 2 100903525 100903525 + Missense_Mutation SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr2:100903525C>T uc002tal.3 - 11 2561 c.1921G>A c.(1921-1923)GTG>ATG p.V641M LONRF2_uc010yvs.1_RNA NM_198461 NP_940863 Q1L5Z9 LONF2_HUMAN LON peptidase N-terminal domain and ring finger 641 Lon. proteolysis ATP-dependent peptidase activity|zinc ion binding large_intestine(1)|skin(1) 2 GGACCCTCCACCTGATCAGGG 0.507 NaN 0 0 0 0.001168 0 5 41 BUB1 699 broad.mit.edu 37 2 111408235 111408235 + Silent SNP A A G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr2:111408235A>G uc002tgc.2 - 18 2203 c.2091T>C c.(2089-2091)GCT>GCC p.A697A BUB1_uc010yxh.1_Silent_p.A677A|BUB1_uc010fkb.2_Silent_p.A697A NM_004336 NP_004327 O43683 BUB1_HUMAN budding uninhibited by benzimidazoles 1 697 apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion condensed chromosome kinetochore|cytosol ATP binding|protein binding|protein serine/threonine kinase activity lung(2)|breast(2)|stomach(1)|ovary(1)|kidney(1) 7 Ovarian(717;0.0822) BRCA - Breast invasive adenocarcinoma(221;0.0556) TGAGTCTGCAAGCCTCAACGC 0.537 NaN 0 0 0 0.009096 0 4 39 BUB1 699 broad.mit.edu 37 2 111408294 111408294 + Missense_Mutation SNP G G C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr2:111408294G>C uc002tgc.2 - 18 2144 c.2032C>G c.(2032-2034)CTG>GTG p.L678V BUB1_uc010yxh.1_Missense_Mutation_p.L658V|BUB1_uc010fkb.2_Missense_Mutation_p.L678V NM_004336 NP_004327 O43683 BUB1_HUMAN budding uninhibited by benzimidazoles 1 678 apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion condensed chromosome kinetochore|cytosol ATP binding|protein binding|protein serine/threonine kinase activity lung(2)|breast(2)|stomach(1)|ovary(1)|kidney(1) 7 Ovarian(717;0.0822) BRCA - Breast invasive adenocarcinoma(221;0.0556) GGCTGGCTCAGACGAAGTAAG 0.502 NaN 0 0 0 0.004672 0 3 48 CNTNAP5 129684 broad.mit.edu 37 2 125671724 125671724 + Silent SNP G G C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr2:125671724G>C uc002tno.2 + 24 4144 c.3780G>C c.(3778-3780)CGG>CGC p.R1260R CNTNAP5_uc010flu.2_Silent_p.R1261R NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 1260 Cytoplasmic (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) TCATGACCCGGTTCCTCTACC 0.453 NaN 0 0 0 0.004482 0 8 160 SAP130 79595 broad.mit.edu 37 2 128767935 128767935 + Missense_Mutation SNP G G C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr2:128767935G>C uc002tpp.2 - 7 987 c.855C>G c.(853-855)ATC>ATG p.I285M SAP130_uc002tpn.2_Missense_Mutation_p.I46M|SAP130_uc002tpo.2_Missense_Mutation_p.I30M|SAP130_uc010fmd.2_Missense_Mutation_p.I285M|SAP130_uc002tpq.1_Missense_Mutation_p.I259M NM_024545 NP_078821 Q9H0E3 SP130_HUMAN Sin3A-associated protein, 130kDa isoform b 285 histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity ovary(2)|skin(2) 4 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0771) CAGCAGGAGGGATGGCATTGG 0.448 NaN 0 0 0 0.009096 0 4 94 XIRP2 129446 broad.mit.edu 37 2 168101899 168101899 + Missense_Mutation SNP G G C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr2:168101899G>C uc002udx.2 + 8 4015 c.3997G>C c.(3997-3999)GAA>CAA p.E1333Q XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.E1158Q|XIRP2_uc010fpq.2_Missense_Mutation_p.E1111Q|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 1158 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 GTCCTATCATGAAGTGACCAC 0.383 NaN 0 0 0 0.006214 0 10 60 LRP2 4036 broad.mit.edu 37 2 170055326 170055326 + Missense_Mutation SNP C C G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr2:170055326C>G uc002ues.2 - 45 8761 c.8548G>C c.(8548-8550)GAT>CAT p.D2850H NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 2850 LDL-receptor class A 19.|Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) TCACTGTTATCTCCACAGTCA 0.378 NaN 0 0 0 0.009096 0 3 38 SGOL2 151246 broad.mit.edu 37 2 201436243 201436243 + Missense_Mutation SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr2:201436243G>A uc002uvw.2 + 7 1287 c.1174G>A c.(1174-1176)GAA>AAA p.E392K SGOL2_uc010zhd.1_Missense_Mutation_p.E392K|SGOL2_uc010zhe.1_Missense_Mutation_p.E392K NM_152524 NP_689737 Q562F6 SGOL2_HUMAN shugoshin-like 2 isoform 1 392 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol|mitotic cohesin complex protein binding ovary(2)|skin(2) 4 AAAAACAAATGAACATGGAAT 0.318 NaN 0 0 0 0.001168 0 6 56 CUL3 8452 broad.mit.edu 37 2 225371615 225371615 + Missense_Mutation SNP G G T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr2:225371615G>T uc002vny.2 - 7 1373 c.989C>A c.(988-990)TCT>TAT p.S330Y CUL3_uc010zls.1_Missense_Mutation_p.S264Y|CUL3_uc010fwy.1_Missense_Mutation_p.S336Y NM_003590 NP_003581 Q13618 CUL3_HUMAN cullin 3 330 cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule ubiquitin protein ligase binding upper_aerodigestive_tract(1)|ovary(1)|liver(1)|kidney(1) 4 all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138) Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902) TCCTTCTTCAGAAACAAGAGC 0.378 NaN 1 0 0.00307968 0.00308 0.00312888 8 45 HDLBP 3069 broad.mit.edu 37 2 242169088 242169088 + Silent SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr2:242169088G>A uc002waz.2 - 28 3963 c.3735C>T c.(3733-3735)AGC>AGT p.S1245S HDLBP_uc002wba.2_Silent_p.S1245S|HDLBP_uc002wbb.2_Silent_p.S1197S NM_203346 NP_976221 Q00341 VIGLN_HUMAN high density lipoprotein binding protein 1245 cholesterol metabolic process|lipid transport cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane lipid binding|protein binding|RNA binding breast(3)|skin(1) 4 all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928) CCTCAGAGCTGCTCATGTCAG 0.582 NaN 0 0 0 0.001984 0 6 43 ProSAPiP1 9762 broad.mit.edu 37 20 3146671 3146671 + Silent SNP A A C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr20:3146671A>C uc002wia.1 - 2 2193 c.795T>G c.(793-795)GGT>GGG p.G265G ProSAPiP1_uc002wib.1_Silent_p.G265G NM_014731 NP_055546 O60299 PRIP1_HUMAN ProSAPiP1 protein 265 cell junction|cytoplasm|postsynaptic density|postsynaptic membrane pancreas(1) 1 CCGACCCCCCACCGCTGCTGC 0.657 NaN 0 0 0 0.008871 0 6 46 C20orf194 25943 broad.mit.edu 37 20 3270794 3270794 + Missense_Mutation SNP G G C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr20:3270794G>C uc002wii.2 - 26 2359 c.2308C>G c.(2308-2310)CTG>GTG p.L770V C20orf194_uc002wij.3_Missense_Mutation_p.L509V|C20orf194_uc002wik.2_Missense_Mutation_p.L444V NM_001009984 NP_001009984 Q5TEA3 CT194_HUMAN hypothetical protein LOC25943 770 0 TCCTTATGCAGAGTGACCAGA 0.478 NaN 0 0 0 0.009718 0 42 310 KIF16B 55614 broad.mit.edu 37 20 16359644 16359644 + Missense_Mutation SNP C C G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr20:16359644C>G uc002wpg.1 - 19 3161 c.3003G>C c.(3001-3003)CAG>CAC p.Q1001H KIF16B_uc002wpe.1_Missense_Mutation_p.Q383H|KIF16B_uc002wpf.1_Missense_Mutation_p.Q383H|KIF16B_uc010gch.1_Missense_Mutation_p.Q1001H|KIF16B_uc010gci.1_Missense_Mutation_p.Q1001H|KIF16B_uc010gcj.1_Missense_Mutation_p.Q1012H NM_024704 NP_078980 Q96L93 KI16B_HUMAN kinesin-like motor protein C20orf23 1001 Glu-rich.|Potential. cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1) 8 GCGCCTCTCTCTGCTGCTTCT 0.552 NaN 0 0 0 0.00499 0 18 164 NINL 22981 broad.mit.edu 37 20 25456923 25456923 + Missense_Mutation SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr20:25456923C>T uc002wux.1 - 17 3078 c.3004G>A c.(3004-3006)GAG>AAG p.E1002K NINL_uc010gdn.1_Intron NM_025176 NP_079452 Q9Y2I6 NINL_HUMAN ninein-like 1002 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 AGGGCGCCCTCGGCCCGGGCC 0.677 NaN 0 0 0 0.013537 0 12 94 WFDC3 140686 broad.mit.edu 37 20 44416554 44416554 + Missense_Mutation SNP C C G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr20:44416554C>G uc002xpf.1 - 4 363 c.279G>C c.(277-279)GAG>GAC p.E93D WFDC3_uc002xpj.1_RNA|WFDC3_uc002xph.1_RNA|WFDC3_uc010ghh.1_RNA NM_080614 NP_542181 Q8IUB2 WFDC3_HUMAN WAP four-disulfide core domain 3 precursor 93 WAP 2. extracellular region serine-type endopeptidase inhibitor activity 0 Myeloproliferative disorder(115;0.0122) CTGGACATGTCTCATCAGTGA 0.463 NaN 0 0 0 0.001168 0 6 73 WFDC3 140686 broad.mit.edu 37 20 44417657 44417657 + Missense_Mutation SNP C C G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr20:44417657C>G uc002xpf.1 - 3 208 c.124G>C c.(124-126)GAG>CAG p.E42Q DNTTIP1_uc002xpk.2_5'Flank|WFDC3_uc002xpj.1_RNA|WFDC3_uc002xph.1_RNA|WFDC3_uc010ghh.1_Intron NM_080614 NP_542181 Q8IUB2 WFDC3_HUMAN WAP four-disulfide core domain 3 precursor 42 WAP 1. extracellular region serine-type endopeptidase inhibitor activity 0 Myeloproliferative disorder(115;0.0122) TGGCACAGCTCTTTGCATGGG 0.512 NaN 0 0 0 0.006122 0 16 249 CTCFL 140690 broad.mit.edu 37 20 56098314 56098314 + Silent SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr20:56098314C>T uc010gix.1 - 2 1226 c.564G>A c.(562-564)AAG>AAA p.K188K CTCFL_uc010giw.1_Silent_p.K188K|CTCFL_uc002xym.2_Silent_p.K188K|CTCFL_uc010giz.1_Intron|CTCFL_uc010giy.1_Intron|CTCFL_uc010gja.1_Silent_p.K188K|CTCFL_uc010gjb.1_Silent_p.K188K|CTCFL_uc010gjc.1_Silent_p.K188K|CTCFL_uc010gjd.1_Silent_p.K188K|CTCFL_uc010gje.2_Silent_p.K188K|CTCFL_uc010gjf.2_5'UTR|CTCFL_uc010gjg.2_Intron|CTCFL_uc010gjh.1_Silent_p.K188K|CTCFL_uc010gji.1_5'UTR|CTCFL_uc010gjj.1_Silent_p.K188K|CTCFL_uc010gjk.1_Silent_p.K188K|CTCFL_uc010gjl.1_Silent_p.K188K NM_080618 NP_542185 Q8NI51 CTCFL_HUMAN CCCTC-binding factor-like protein 188 cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent cytoplasm|nucleus histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding ovary(2)|large_intestine(1)|skin(1) 4 Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07) ATAACTGGTTCTTCTCCTGCT 0.353 NaN 0 0 0 0.008291 0 11 74 DSCAM 1826 broad.mit.edu 37 21 41684108 41684108 + Missense_Mutation SNP C C G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr21:41684108C>G uc002yyq.1 - 9 2414 c.1962G>C c.(1960-1962)TTG>TTC p.L654F DSCAM_uc002yyr.1_RNA NM_001389 NP_001380 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule isoform 654 Extracellular (Potential).|Ig-like C2-type 7. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding ovary(6)|skin(4)|upper_aerodigestive_tract(1) 11 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) TGGAAATCCTCAAGGAGCTCG 0.547 NaN 0 0 0 0.001168 0 6 133 KRTAP10-11 386678 broad.mit.edu 37 21 46066950 46066950 + Missense_Mutation SNP T T C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr21:46066950T>C uc002zfr.3 + 1 620 c.575T>C c.(574-576)GTC>GCC p.V192A C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198692 NP_941965 P60412 KR10B_HUMAN keratin associated protein 10-11 192 25 X 5 AA repeats of C-C-X(3).|18. keratin filament ovary(1) 1 TGCGTGCCTGTCTGCTGCAAG 0.607 NaN 0 0 0 0.008361 0 31 399 PLXNB2 23654 broad.mit.edu 37 22 50720031 50720031 + Missense_Mutation SNP C C G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr22:50720031C>G uc003bkv.3 - 21 3592 c.3486G>C c.(3484-3486)CAG>CAC p.Q1162H PLXNB2_uc003bkt.1_5'UTR|PLXNB2_uc003bku.1_Missense_Mutation_p.Q147H NM_012401 NP_036533 O15031 PLXB2_HUMAN plexin B2 precursor 1162 Extracellular (Potential). RQKR->AQKA: Abolishes cleavage by proprotein convertases. regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity ovary(4)|central_nervous_system(1)|skin(1) 6 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) TGTCTCGTTTCTGCCGCCGCT 0.697 NaN 0 0 0 0.007413 0 16 77 FANCD2 2177 broad.mit.edu 37 3 10089628 10089628 + Missense_Mutation SNP C C A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr3:10089628C>A uc003buw.2 + 16 1384 c.1306C>A c.(1306-1308)CTG>ATG p.L436M FANCD2_uc003bux.1_Missense_Mutation_p.L436M|FANCD2_uc003buy.1_Missense_Mutation_p.L436M|FANCD2_uc010hcw.1_5'Flank NM_033084 NP_149075 Q9BXW9 FACD2_HUMAN Fanconi anemia complementation group D2 isoform 436 DNA repair|response to gamma radiation nucleoplasm protein binding|protein binding central_nervous_system(2)|ovary(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(96;0.148) TTCATCCATTCTGTCGCTGGC 0.393 NaN D|Mis|N|F AML|leukemia Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 1 0 5.45024e-15 0.00333 5.99715e-15 26 255 ATP2B2 491 broad.mit.edu 37 3 10442706 10442706 + Missense_Mutation SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr3:10442706C>T uc003bvt.2 - 5 1151 c.712G>A c.(712-714)GAA>AAA p.E238K ATP2B2_uc003bvv.2_Missense_Mutation_p.E238K|ATP2B2_uc003bvw.2_Missense_Mutation_p.E238K|ATP2B2_uc010hdp.2_Missense_Mutation_p.E238K|ATP2B2_uc010hdo.2_5'UTR NM_001001331 NP_001001331 Q01814 AT2B2_HUMAN plasma membrane calcium ATPase 2 isoform 1 238 Cytoplasmic (Potential). ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding ovary(3)|skin(2)|central_nervous_system(1) 6 AGGGAGCTTTCATCAATCTTG 0.592 NaN 0 0 0 0.004007 0 17 84 PPARG 5468 broad.mit.edu 37 3 12447544 12447544 + Silent SNP G G C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr3:12447544G>C uc003bwx.2 + 5 874 c.783G>C c.(781-783)GCG>GCC p.A261A PPARG_uc003bwr.2_Silent_p.A233A|PPARG_uc003bws.2_Silent_p.A233A|PPARG_uc003bwu.2_Silent_p.A233A|PPARG_uc003bwv.2_Silent_p.A233A|PPARG_uc010hea.1_RNA|PPARG_uc003bwq.1_Silent_p.A233A|PPARG_uc003bwt.1_Silent_p.A233A|PPARG_uc003bww.1_Silent_p.A261A NM_015869 NP_056953 P37231 PPARG_HUMAN peroxisome proliferative activated receptor 261 Interaction with FAM120B (By similarity). activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation cytosol|nucleoplasm activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding ovary(1)|kidney(1) 2 Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197) AAGCAAAGGCGAGGGCGATCT 0.478 NaN T PAX8 follicular thyroid Insulin resistance ; lipodystrophy|familial partial L;diabetes mellitus|insulin-resistantI|with acanthosis nigricans and hypertension 0 0 0 0.004482 0 9 53 CAND2 23066 broad.mit.edu 37 3 12861592 12861592 + Silent SNP A A G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr3:12861592A>G uc003bxk.2 + 11 3001 c.2952A>G c.(2950-2952)CCA>CCG p.P984P CAND2_uc003bxj.2_Silent_p.P891P NM_001162499 NP_001155971 O75155 CAND2_HUMAN TBP-interacting protein isoform 1 984 HEAT 21. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding skin(3)|pancreas(1) 4 CAGGTCGGCCACACACCCGGA 0.597 NaN 0 0 0 0.001855 0 14 106 C3orf35 339883 broad.mit.edu 37 3 37476522 37476522 + Silent SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr3:37476522C>T uc003cha.3 + 6 1078 c.414C>T c.(412-414)GCC>GCT p.A138A NM_178339 NP_848029 Q8IVJ8 APRG1_HUMAN AP20 region protein isoform B 138 integral to membrane central_nervous_system(1) 1 GTGGGGATGCCTGGAAAACAA 0.473 NaN 0 0 0 0.009096 0 4 49 XIRP1 165904 broad.mit.edu 37 3 39230134 39230134 + Missense_Mutation SNP G G T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr3:39230134G>T uc003cjk.1 - 2 1024 c.803C>A c.(802-804)TCT>TAT p.S268Y XIRP1_uc003cji.2_Missense_Mutation_p.S268Y|XIRP1_uc003cjj.2_Intron NM_194293 NP_919269 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 268 Xin 6. actin binding ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1) 8 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) CCAGCGGGCAGACCTCACCGC 0.662 NaN 1 0 1.22574e-08 0.014323 1.3213e-08 23 91 CTNNB1 1499 broad.mit.edu 37 3 41278172 41278172 + Missense_Mutation SNP T T A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr3:41278172T>A uc010hia.1 + 14 2204 c.2048T>A c.(2047-2049)TTC>TAC p.F683Y CTNNB1_uc003ckp.2_Missense_Mutation_p.F683Y|CTNNB1_uc003ckq.2_Missense_Mutation_p.F683Y|CTNNB1_uc003ckr.2_Missense_Mutation_p.F683Y|CTNNB1_uc011azf.1_Missense_Mutation_p.F676Y|CTNNB1_uc011azg.1_Missense_Mutation_p.F611Y|CTNNB1_uc003cks.2_3'UTR|CTNNB1_uc003ckt.1_3'UTR NM_001904 NP_001895 P35222 CTNB1_HUMAN beta-catenin 683 adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding CTNNB1/PLAG1(60) liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1) 3166 KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294) Lithium(DB01356) AGCTCTCTCTTCAGAACAGAG 0.458 15 H|Mis|T PLAG1 colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma Pilomatrixoma_Familial_Clustering_of 0 0 0 0.010729 0 11 158 CCR5 1234 broad.mit.edu 37 3 46414768 46414768 + Silent SNP T T C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr3:46414768T>C uc003cpo.3 + 3 497 c.375T>C c.(373-375)GAT>GAC p.D125D CCR5_uc010hjd.2_Silent_p.D125D NM_001100168 NP_001093638 P51681 CCR5_HUMAN chemokine (C-C motif) receptor 5 125 Cytoplasmic (Potential). cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection endosome|external side of plasma membrane|integral to plasma membrane actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity lung(4)|upper_aerodigestive_tract(1)|central_nervous_system(1) 6 BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02) Maraviroc(DB04835) TGACAATCGATAGGTACCTGG 0.478 NaN 0 0 0 0.006214 0 10 209 KLHDC8B 200942 broad.mit.edu 37 3 49211748 49211748 + Silent SNP T T C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr3:49211748T>C uc003cwh.2 + 3 638 c.453T>C c.(451-453)CGT>CGC p.R151R KLHDC8B_uc003cwi.1_Silent_p.R24R NM_173546 NP_775817 Q8IXV7 KLD8B_HUMAN kelch domain containing 8B 151 Kelch 4. cytoplasm 0 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) ATGAGCCCCGTCGGGACTGCT 0.597 NaN 0 0 0 0.006214 0 10 117 AMIGO3 386724 broad.mit.edu 37 3 49756220 49756220 + Missense_Mutation SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr3:49756220G>A uc003cxj.2 - 1 1019 c.679C>T c.(679-681)CTC>TTC p.L227F RNF123_uc003cxh.2_Intron|RNF123_uc003cxi.2_Intron NM_198722 NP_942015 Q86WK7 AMGO3_HUMAN adhesion molecule with Ig-like domain 3 227 Extracellular (Potential).|LRRCT. heterophilic cell-cell adhesion integral to membrane pancreas(1) 1 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) AGGTGGTAGAGGCGGCAGTCG 0.657 NaN 0 0 0 0.00308 0 8 86 MAGI1 9223 broad.mit.edu 37 3 65365145 65365145 + Missense_Mutation SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr3:65365145C>T uc003dmn.2 - 17 3312 c.2786G>A c.(2785-2787)CGC>CAC p.R929H MAGI1_uc003dmm.2_Missense_Mutation_p.R957H|MAGI1_uc003dmo.2_Missense_Mutation_p.R957H|MAGI1_uc003dmp.2_Missense_Mutation_p.R929H|MAGI1_uc003dmq.1_RNA|MAGI1_uc010hnx.1_Missense_Mutation_p.R240H NM_001033057 NP_001028229 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ 957 cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1) 6 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) CTGCGGAGTGCGCTTCTCTTC 0.453 NaN 0 0 0 0.00499 0 16 121 ROBO2 6092 broad.mit.edu 37 3 77600062 77600062 + Missense_Mutation SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr3:77600062G>A uc003dpy.3 + 8 1796 c.1153G>A c.(1153-1155)GAC>AAC p.D385N ROBO2_uc003dpz.2_Missense_Mutation_p.D389N|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.D389N NM_002942 NP_002933 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 385 Ig-like C2-type 4.|Extracellular (Potential). apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1) 11 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) TCAACGTTCCGACGCGGGTTA 0.473 NaN 0 0 0 0.001984 0 7 74 CCDC80 151887 broad.mit.edu 37 3 112358447 112358447 + Silent SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr3:112358447C>T uc003dzf.2 - 2 524 c.306G>A c.(304-306)GTG>GTA p.V102V CCDC80_uc011bhv.1_Silent_p.V102V|CCDC80_uc003dzg.2_Silent_p.V102V|CCDC80_uc003dzh.1_Silent_p.V102V NM_199512 NP_955806 Q76M96 CCD80_HUMAN steroid-sensitive protein 1 precursor 102 ovary(2) 2 GCTCAGGTCTCACGGCGGCCC 0.607 NaN 0 0 0 0.005443 0 25 135 PRR23B 389151 broad.mit.edu 37 3 138738765 138738765 + Missense_Mutation SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr3:138738765G>A uc003esy.1 - 1 1004 c.739C>T c.(739-741)CGC>TGC p.R247C NM_001013650 NP_001013672 Q6ZRT6 PR23B_HUMAN proline rich 23B 247 Pro-rich. breast(1) 1 AGCGGCGAGCGCGCGTGGGGA 0.657 NaN 0 0 0 0.010729 0 12 84 LRRIQ4 344657 broad.mit.edu 37 3 169540297 169540297 + Silent SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr3:169540297C>T uc003fgb.2 + 1 588 c.588C>T c.(586-588)GAC>GAT p.D196D NM_001080460 NP_001073929 A6NIV6 LRIQ4_HUMAN leucine-rich repeats and IQ motif containing 4 196 LRR 8. 0 TTGACCTGGACGAGAACAAAA 0.517 NaN 0 0 0 0.010729 0 12 142 C3orf43 255798 broad.mit.edu 37 3 196234952 196234952 + Missense_Mutation SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr3:196234952C>T uc003fws.2 - 3 608 c.451G>A c.(451-453)GAA>AAA p.E151K C3orf43_uc003fwr.2_Missense_Mutation_p.E143K NM_001077657 NP_001071125 Q147U7 CC043_HUMAN hypothetical protein LOC255798 151 integral to membrane ovary(1) 1 all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;2.13e-23)|all cancers(36;2e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00298) GTATAGTGTTCTGCCTTGTTA 0.463 NaN 0 0 0 0.013537 0 13 105 FGFRL1 53834 broad.mit.edu 37 4 1019074 1019074 + Missense_Mutation SNP A A T rs77570255 TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr4:1019074A>T uc003gce.2 + 7 1615 c.1454A>T c.(1453-1455)CAC>CTC p.H485L FGFRL1_uc003gcf.2_Missense_Mutation_p.H485L|FGFRL1_uc003gcg.2_Missense_Mutation_p.H485L|FGFRL1_uc010ibo.2_Missense_Mutation_p.H485L NM_021923 NP_068742 Q8N441 FGRL1_HUMAN fibroblast growth factor receptor-like 1 485 His-rich.|Cytoplasmic (Potential). regulation of cell growth integral to membrane|plasma membrane fibroblast growth factor receptor activity|heparin binding 0 OV - Ovarian serous cystadenocarcinoma(23;0.0158) acacacacacactctcacaca 0.483 NaN 0 0 0 0.004672 0 3 16 KLB 152831 broad.mit.edu 37 4 39448824 39448824 + Silent SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr4:39448824C>T uc003gua.2 + 4 2575 c.2478C>T c.(2476-2478)TTC>TTT p.F826F KLB_uc011byj.1_Silent_p.F817F NM_175737 NP_783864 Q86Z14 KLOTB_HUMAN klotho beta 826 Extracellular (Potential).|Glycosyl hydrolase-1 2. carbohydrate metabolic process integral to membrane|plasma membrane cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds skin(1) 1 TCAACCACTTCACCACTAGGT 0.657 NaN 0 0 0 0.010504 0 21 90 LRRC66 339977 broad.mit.edu 37 4 52861415 52861415 + Missense_Mutation SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr4:52861415C>T uc003gzi.2 - 4 1786 c.1773G>A c.(1771-1773)ATG>ATA p.M591I NM_001024611 NP_001019782 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 591 integral to membrane ovary(1)|central_nervous_system(1)|skin(1) 3 CATGTGTTAGCATTTTACAGA 0.483 NaN 0 0 0 0.013537 0 13 172 LRRC66 339977 broad.mit.edu 37 4 52861829 52861829 + Silent SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr4:52861829C>T uc003gzi.2 - 4 1372 c.1359G>A c.(1357-1359)GAG>GAA p.E453E NM_001024611 NP_001019782 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 453 integral to membrane ovary(1)|central_nervous_system(1)|skin(1) 3 GGGTCTGGTTCTCGTAGAGGC 0.542 NaN 0 0 0 0.008291 0 11 115 IGJ 3512 broad.mit.edu 37 4 71527924 71527924 + Missense_Mutation SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr4:71527924C>T uc003hfn.3 - 2 214 c.73G>A c.(73-75)GAT>AAT p.D25N IGJ_uc010ihz.2_Missense_Mutation_p.D41N NM_144646 NP_653247 P01591 IGJ_HUMAN immunoglobulin J chain 25 immune response extracellular region antigen binding 0 Lung(101;0.235) ATCCTTTCATCTTCTTGGGCT 0.358 NaN 0 0 0 0.008291 0 11 68 SMARCAD1 56916 broad.mit.edu 37 4 95170811 95170811 + Nonsense_Mutation SNP G G T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr4:95170811G>T uc003htc.3 + 7 967 c.712G>T c.(712-714)GAA>TAA p.E238* SMARCAD1_uc003htb.3_Nonsense_Mutation_p.E238*|SMARCAD1_uc003htd.3_Nonsense_Mutation_p.E238*|SMARCAD1_uc010ila.2_Nonsense_Mutation_p.E101* NM_020159 NP_064544 Q9H4L7 SMRCD_HUMAN SWI/SNF-related, matrix-associated 238 chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination nuclear matrix ATP binding|DNA binding|helicase activity skin(2)|ovary(1)|breast(1) 4 OV - Ovarian serous cystadenocarcinoma(123;4.33e-08) TTAGGGAGAGGAATCAAATGA 0.323 NaN 1 0 1.06961e-07 0.00308 1.1414e-07 8 44 BANK1 55024 broad.mit.edu 37 4 102946423 102946423 + Missense_Mutation SNP G G C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr4:102946423G>C uc003hvy.3 + 9 1625 c.1351G>C c.(1351-1353)GAG>CAG p.E451Q BANK1_uc003hvx.3_Missense_Mutation_p.E436Q|BANK1_uc010ill.2_Missense_Mutation_p.E318Q|BANK1_uc003hvz.3_Missense_Mutation_p.E421Q NM_017935 NP_060405 Q8NDB2 BANK1_HUMAN B-cell scaffold protein with ankyrin repeats 1 451 B cell activation ovary(2)|skin(1) 3 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.7e-07) AGATGGAGCTGAGGCAAATGA 0.453 NaN 0 0 0 0.001855 0 14 118 FAT4 79633 broad.mit.edu 37 4 126240575 126240575 + Silent SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr4:126240575C>T uc003ifj.3 + 1 3009 c.3009C>T c.(3007-3009)GTC>GTT p.V1003V NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 1003 Cadherin 10.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 CTTATGAAGTCACCCTTTCTG 0.408 NaN 0 0 0 0.004482 0 7 93 FAT4 79633 broad.mit.edu 37 4 126411502 126411502 + Missense_Mutation SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr4:126411502G>A uc003ifj.3 + 17 13525 c.13525G>A c.(13525-13527)GTG>ATG p.V4509M FAT4_uc011cgp.1_Missense_Mutation_p.V2750M|FAT4_uc003ifi.1_Missense_Mutation_p.V1986M NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 4509 Helical; (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 GCCTGCCATCGTGGGCAGCTG 0.577 NaN 0 0 0 0.006214 0 10 111 LRBA 987 broad.mit.edu 37 4 151771906 151771906 + Missense_Mutation SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr4:151771906G>A uc010ipj.2 - 24 4448 c.3974C>T c.(3973-3975)TCA>TTA p.S1325L LRBA_uc003ilt.3_5'Flank|LRBA_uc003ilu.3_Missense_Mutation_p.S1325L NM_006726 NP_006717 P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and 1325 WD 1. endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding ovary(3)|breast(3)|skin(1) 7 all_hematologic(180;0.151) TGTTTCTATTGAAAATAATAG 0.343 NaN 0 0 0 0.000602 0 5 23 FBXW7 55294 broad.mit.edu 37 4 153244185 153244185 + Nonsense_Mutation SNP G G A rs144247898 TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 G A G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr4:153244185G>A uc003ims.2 - 12 2121 c.1972C>T c.(1972-1974)CGA>TGA p.R658* FBXW7_uc011cii.1_Nonsense_Mutation_p.R658*|FBXW7_uc003imt.2_Nonsense_Mutation_p.R658*|FBXW7_uc011cih.1_Nonsense_Mutation_p.R482*|FBXW7_uc003imq.2_Nonsense_Mutation_p.R578*|FBXW7_uc003imr.2_Nonsense_Mutation_p.R540* NM_033632 NP_361014 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7 isoform 658 WD 7. interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex protein binding|protein binding p.R658*(1) haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1) 308 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) ACTAGGTTTCGAATAAATTCA 0.473 NaN Mis|N|D|F colorectal|endometrial|T-ALL 0 0 0 0.004482 0 8 121 FBXW7 55294 broad.mit.edu 37 4 153247165 153247165 + Missense_Mutation SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 G A G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr4:153247165G>A uc003ims.2 - 10 1786 c.1637C>T c.(1636-1638)TCA>TTA p.S546L FBXW7_uc011cii.1_Missense_Mutation_p.S546L|FBXW7_uc003imt.2_Missense_Mutation_p.S546L|FBXW7_uc011cih.1_Missense_Mutation_p.S370L|FBXW7_uc003imq.2_Missense_Mutation_p.S466L|FBXW7_uc003imr.2_Missense_Mutation_p.S428L NM_033632 NP_361014 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7 isoform 546 WD 5. interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex protein binding|protein binding haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1) 308 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) TACCTGTAATGAATAGACTCT 0.398 NaN Mis|N|D|F colorectal|endometrial|T-ALL 0 0 0 0.001855 0 13 86 RNASEN 29102 broad.mit.edu 37 5 31521263 31521263 + Missense_Mutation SNP C C G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr5:31521263C>G uc003jhg.2 - 5 1273 c.914G>C c.(913-915)AGG>ACG p.R305T RNASEN_uc003jhh.2_Missense_Mutation_p.R305T|RNASEN_uc003jhi.2_Missense_Mutation_p.R305T|RNASEN_uc010iui.1_Intron NM_013235 NP_037367 Q9NRR4 RNC_HUMAN ribonuclease III, nuclear isoform 1 305 Arg-rich. gene silencing by RNA|ribosome biogenesis|RNA processing nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity 0 TTTGTAGGACCTTTCCAGAGA 0.408 NaN 0 0 0 0.001855 0 12 154 GOLPH3 64083 broad.mit.edu 37 5 32143969 32143969 + Missense_Mutation SNP C C A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr5:32143969C>A uc003jhp.1 - 2 528 c.243G>T c.(241-243)TGG>TGT p.W81C NM_022130 NP_071413 Q9H4A6 GOLP3_HUMAN golgi phosphoprotein 3 81 cell proliferation|positive regulation of TOR signaling cascade|regulation of mitochondrion organization cytosol|endosome|Golgi cisterna membrane|mitochondrial intermembrane space|plasma membrane|trans-Golgi network protein binding ovary(1) 1 TACAGTCATTCCAAAATGATG 0.318 NaN 1 0 1.06961e-07 0.00308 1.1414e-07 8 68 WDR70 55100 broad.mit.edu 37 5 37727078 37727078 + Missense_Mutation SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr5:37727078G>A uc003jkv.2 + 17 1866 c.1808G>A c.(1807-1809)CGG>CAG p.R603Q NM_018034 NP_060504 Q9NW82 WDR70_HUMAN WD repeat domain 70 603 ovary(1)|central_nervous_system(1) 2 all_lung(31;0.000285) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AGTAATCCTCGGGAAGCCATT 0.463 NaN 0 0 0 0.00308 0 8 91 IQGAP2 10788 broad.mit.edu 37 5 75902129 75902129 + Splice_Site SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr5:75902129G>A uc003kek.2 + 12 1579 c.1357_splice c.e12+1 p.R453_splice IQGAP2_uc010izv.2_5'Flank|IQGAP2_uc011csv.1_5'Flank|IQGAP2_uc003kel.2_5'Flank NM_006633 NP_006624 Q13576 IQGA2_HUMAN IQ motif containing GTPase activating protein 2 small GTPase mediated signal transduction actin cytoskeleton actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity ovary(6)|central_nervous_system(1) 7 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) GAAAATGACCGTAAGTATAAG 0.348 NaN 0 0 0 0.004672 0 3 35 PPIP5K2 23262 broad.mit.edu 37 5 102518935 102518935 + Missense_Mutation SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr5:102518935G>A uc003kod.3 + 25 3442 c.2923G>A c.(2923-2925)GAA>AAA p.E975K PPIP5K2_uc011cva.1_RNA|PPIP5K2_uc003koe.2_Missense_Mutation_p.E975K|PPIP5K2_uc003kof.2_Intron NM_015216 NP_056031 O43314 VIP2_HUMAN Histidine acid phosphatase domain containing 1 975 inositol metabolic process cytosol acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity ovary(1)|skin(1) 2 TCACTTCCAGGAAGAGAGCCC 0.443 NaN 0 0 0 0.001168 0 6 36 SHROOM1 134549 broad.mit.edu 37 5 132160002 132160002 + Missense_Mutation SNP C C G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr5:132160002C>G uc003kxx.2 - 7 2156 c.1351G>C c.(1351-1353)GAT>CAT p.D451H SHROOM1_uc003kxy.1_Missense_Mutation_p.D451H NM_133456 NP_597713 Q2M3G4 SHRM1_HUMAN shroom family member 1 451 actin filament bundle assembly|cell morphogenesis cytoplasm|microtubule actin filament binding pancreas(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CAGCAGTCATCTGCCCCTGCA 0.557 NaN 0 0 0 0.001168 0 6 38 PCDHA1 56147 broad.mit.edu 37 5 140167320 140167320 + Missense_Mutation SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr5:140167320C>T uc003lhb.2 + 1 1445 c.1445C>T c.(1444-1446)GCG>GTG p.A482V PCDHA1_uc003lha.2_Missense_Mutation_p.A482V|PCDHA1_uc003lgz.2_Missense_Mutation_p.A482V NM_018900 NP_061723 Q9Y5I3 PCDA1_HUMAN protocadherin alpha 1 isoform 1 precursor 482 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGCGGGACGCGGACGCGCAG 0.657 NaN 0 0 0 0.010729 0 9 173 PCDHA9 9752 broad.mit.edu 37 5 140230132 140230132 + Silent SNP G G T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr5:140230132G>T uc003lhu.2 + 1 2776 c.2052G>T c.(2050-2052)GTG>GTT p.V684V 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_uc003lht.1_Silent_p.V684V NM_031857 NP_114063 Q9Y5H5 PCDA9_HUMAN protocadherin alpha 9 isoform 1 precursor 684 Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding large_intestine(2)|ovary(2)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGCGTCAGTGGGTGCCACGG 0.652 NaN 1 0 3.28513e-13 0.003954 3.60231e-13 26 117 ARAP3 64411 broad.mit.edu 37 5 141050834 141050834 + Nonsense_Mutation SNP G G C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr5:141050834G>C uc003llm.2 - 13 2066 c.1988C>G c.(1987-1989)TCA>TGA p.S663* ARAP3_uc011dbe.1_Nonsense_Mutation_p.S325*|ARAP3_uc003lln.2_Intron NM_022481 NP_071926 Q8WWN8 ARAP3_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH 663 cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding breast(5)|ovary(1)|large_intestine(1) 7 GGAATGACCTGAGGGCAAGAG 0.572 NaN 0 0 0 0.004007 0 13 71 LARS 51520 broad.mit.edu 37 5 145512562 145512562 + Silent SNP G G T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr5:145512562G>T uc003lnx.1 - 23 2533 c.2295C>A c.(2293-2295)CTC>CTA p.L765L LARS_uc003lnw.1_5'Flank|LARS_uc011dbq.1_Silent_p.L719L|LARS_uc011dbr.1_Silent_p.L711L|LARS_uc011dbs.1_Silent_p.L738L NM_020117 NP_064502 Q9P2J5 SYLC_HUMAN leucyl-tRNA synthetase 765 leucyl-tRNA aminoacylation cytosol ATP binding|leucine-tRNA ligase activity|protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) L-Leucine(DB00149) TGTACAGACGGAGAATACCTG 0.478 NaN 1 0 2.0095e-06 0.001984 2.12299e-06 7 56 GABRB2 2561 broad.mit.edu 37 5 160757993 160757993 + Missense_Mutation SNP A A G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr5:160757993A>G uc003lys.1 - 9 1192 c.974T>C c.(973-975)CTA>CCA p.L325P GABRB2_uc011deh.1_Missense_Mutation_p.L164P|GABRB2_uc003lyr.1_Missense_Mutation_p.L325P|GABRB2_uc003lyt.1_Missense_Mutation_p.L325P|GABRB2_uc010jiu.1_Missense_Mutation_p.L262P NM_021911 NP_068711 P47870 GBRB2_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 325 Helical; (Probable). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|GABA-A receptor activity 0 Renal(175;0.00259) Medulloblastoma(196;0.021)|all_neural(177;0.0463) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) GTAGTTGACTAGGGCATATTC 0.512 NaN 0 0 0 0.008871 0 21 93 ODZ2 57451 broad.mit.edu 37 5 167645734 167645734 + Missense_Mutation SNP A A G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr5:167645734A>G uc010jjd.2 + 23 4811 c.4811A>G c.(4810-4812)TAC>TGC p.Y1604C ODZ2_uc003lzr.3_Missense_Mutation_p.Y1374C|ODZ2_uc003lzt.3_Missense_Mutation_p.Y977C|ODZ2_uc010jje.2_Missense_Mutation_p.Y868C NM_001122679 NP_001116151 odz, odd Oz/ten-m homolog 2 ovary(6)|central_nervous_system(4) 10 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) ACAGGGGAGTACTTGTACAAT 0.473 NaN 0 0 0 0.010729 0 12 124 FOXQ1 94234 broad.mit.edu 37 6 1313431 1313431 + Silent SNP C C A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr6:1313431C>A uc003mtl.3 + 1 757 c.492C>A c.(490-492)CGC>CGA p.R164R NM_033260 NP_150285 Q9C009 FOXQ1_HUMAN forkhead box Q1 164 Fork-head. DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding 0 Ovarian(93;0.0733) Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18) CGGGCTGGCGCAACTCCGTGC 0.647 NaN 1 0 0.000442599 0.006214 0.000456969 9 92 CDYL 9425 broad.mit.edu 37 6 4892403 4892403 + Missense_Mutation SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr6:4892403G>A uc003mwi.2 + 4 774 c.643G>A c.(643-645)GAG>AAG p.E215K CDYL_uc003mwj.2_Missense_Mutation_p.E161K|CDYL_uc003mwk.2_Intron|CDYL_uc011dhx.1_Missense_Mutation_p.E29K|CDYL_uc011dhy.1_Missense_Mutation_p.E29K NM_001143971 NP_001137443 Q9Y232 CDYL1_HUMAN chromodomain protein, Y chromosome-like isoform 215 regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus histone acetyltransferase activity 0 Ovarian(93;0.11) all_hematologic(90;0.0901)|Lung NSC(90;0.244) OV - Ovarian serous cystadenocarcinoma(45;0.182) CTTTCAGAGCGAGAGCCCTGA 0.602 NaN 0 0 0 0.000602 0 5 70 MUTED 63915 broad.mit.edu 37 6 8041460 8041460 + Silent SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr6:8041460C>T uc003mxy.2 - 3 275 c.237G>A c.(235-237)TTG>TTA p.L79L TXNDC5_uc003mxw.2_5'UTR|MUTED_uc010joc.2_Silent_p.L15L|MUTED_uc010job.2_RNA NM_201280 NP_958437 Q8TDH9 MUTED_HUMAN muted 79 BLOC-1 complex protein binding 0 Ovarian(93;0.0398) TCATGTTCTTCAAATTTTCAA 0.353 NaN 0 0 0 0.006214 0 10 58 SCAND3 114821 broad.mit.edu 37 6 28547168 28547168 + Missense_Mutation SNP A A T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr6:28547168A>T uc003nlo.2 - 2 1067 c.449T>A c.(448-450)GTT>GAT p.V150D NM_052923 NP_443155 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 150 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity ovary(1) 1 TTCCATAGAAACTTCCTGCCC 0.413 NaN 0 0 0 0.001855 0 12 93 C6orf15 29113 broad.mit.edu 37 6 31079947 31079947 + Silent SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr6:31079947G>A uc003nsk.1 - 2 189 c.189C>T c.(187-189)CCC>CCT p.P63P PSORS1C1_uc003nsl.1_5'Flank|PSORS1C1_uc010jsj.1_5'Flank NM_014070 NP_054789 Q6UXA7 CF015_HUMAN STG protein precursor 63 0 GGTCCAGAGCGGGCTGCGGAT 0.562 NaN 0 0 0 0.00499 0 18 141 LY6G5B 58496 broad.mit.edu 37 6 31639913 31639913 + Missense_Mutation SNP G G C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr6:31639913G>C uc003nvt.1 + 3 460 c.460G>C c.(460-462)GAG>CAG p.E154Q CSNK2B_uc003nvs.1_3'UTR NM_021221 NP_067044 Q8NDX9 LY65B_HUMAN lymphocyte antigen 6 complex G5B precursor 154 extracellular region 0 TGCTGGGACGGAGCCTGATGG 0.587 NaN 0 0 0 0.008291 0 10 74 RPS18 6222 broad.mit.edu 37 6 33243657 33243657 + Silent SNP T T C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr6:33243657T>C uc003odp.1 + 3 231 c.186T>C c.(184-186)GAT>GAC p.D62D RPS18_uc010jum.1_RNA|RPS18_uc003odq.1_RNA|B3GALT4_uc003odr.2_5'Flank NM_022551 NP_072045 P62269 RS18_HUMAN ribosomal protein S18 62 endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit rRNA binding|structural constituent of ribosome 0 TCACTGAGGATGAGGTGAGGA 0.567 NaN 0 0 0 0.001168 0 6 136 TCP11 6954 broad.mit.edu 37 6 35088699 35088699 + Silent SNP G G C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr6:35088699G>C uc003okd.2 - 6 922 c.741C>G c.(739-741)CTC>CTG p.L247L TCP11_uc003ojz.1_Silent_p.L172L|TCP11_uc003oka.2_Silent_p.L172L|TCP11_uc003okb.2_Silent_p.L171L|TCP11_uc003okc.2_Silent_p.L171L|TCP11_uc011dsu.1_Silent_p.L229L|TCP11_uc011dsv.1_Silent_p.L196L|TCP11_uc011dsw.1_Silent_p.L201L NM_001093728 NP_001087197 Q8WWU5 TCP11_HUMAN t-complex 11 isoform 1 234 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane ovary(3)|skin(2) 5 GCTGCTTATTGAGGAGTTCCT 0.423 NaN 0 0 0 0.01441 0 69 392 PPARD 5467 broad.mit.edu 37 6 35387983 35387983 + Silent SNP C C G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr6:35387983C>G uc003okm.2 + 4 519 c.210C>G c.(208-210)CTC>CTG p.L70L PPARD_uc003okl.2_Silent_p.L70L|PPARD_uc003okn.2_Silent_p.L70L|PPARD_uc011dtb.1_Silent_p.L31L|PPARD_uc011dtc.1_Intron|PPARD_uc010jvv.1_Intron NM_006238 NP_006229 Q03181 PPARD_HUMAN peroxisome proliferative activated receptor, 70 apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1) 1 Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374) GCGGCAGCCTCAACATGGAGT 0.652 NaN 0 0 0 0.013537 0 12 71 TFAP2D 83741 broad.mit.edu 37 6 50696937 50696937 + Silent SNP G G C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr6:50696937G>C uc003paf.2 + 5 1307 c.795G>C c.(793-795)CTG>CTC p.L265L TFAP2D_uc011dwt.1_RNA NM_172238 NP_758438 Q7Z6R9 AP2D_HUMAN transcription factor AP-2 beta-like 1 265 DNA binding|sequence-specific DNA binding transcription factor activity ovary(6)|breast(1) 7 Lung NSC(77;0.0334) GCCGCTGCCTGAGAGAGAAAT 0.408 NaN 0 0 0 0.013537 0 13 124 GRIK2 2898 broad.mit.edu 37 6 102337572 102337572 + Missense_Mutation SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr6:102337572G>A uc003pqp.3 + 11 1831 c.1582G>A c.(1582-1584)GAC>AAC p.D528N GRIK2_uc003pqn.2_Missense_Mutation_p.D528N|GRIK2_uc003pqo.3_Missense_Mutation_p.D528N|GRIK2_uc010kcw.2_Missense_Mutation_p.D528N NM_021956 NP_068775 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 528 Extracellular (Potential). glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity ovary(2)|pancreas(1)|breast(1)|skin(1) 5 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) GAAGGTCATCGACTTTTCCAA 0.408 NaN 0 0 0 0.00245 0 14 124 FAM184A 79632 broad.mit.edu 37 6 119300685 119300685 + Splice_Site SNP T T C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr6:119300685T>C uc003pyj.2 - 11 2650 c.2302_splice c.e11-1 p.A768_splice FAM184A_uc003pyk.3_Splice_Site_p.A648_splice|FAM184A_uc003pyl.3_Splice_Site_p.A648_splice NM_024581 NP_078857 Q8NB25 F184A_HUMAN hypothetical protein LOC79632 isoform 1 ovary(2)|central_nervous_system(2)|skin(2)|pancreas(1) 7 TTCAAGAGCCTAGAACAAGAC 0.328 NaN 0 0 0 0.009096 0 4 31 TAAR8 83551 broad.mit.edu 37 6 132874511 132874511 + Missense_Mutation SNP C C A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr6:132874511C>A uc011ecj.1 + 1 680 c.680C>A c.(679-681)GCT>GAT p.A227D NM_053278 NP_444508 Q969N4 TAAR8_HUMAN trace amine associated receptor 8 227 Cytoplasmic (Potential). plasma membrane G-protein coupled receptor activity ovary(1) 1 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792) AAACAACAAGCTATAAAAATT 0.358 NaN 1 0 3.86212e-05 0.008291 4.01358e-05 11 77 TMEM181 57583 broad.mit.edu 37 6 159046150 159046150 + Silent SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr6:159046150C>T uc003qrm.3 + 12 1391 c.1380C>T c.(1378-1380)TTC>TTT p.F460F TMEM181_uc010kjr.1_Silent_p.F291F NM_020823 NP_065874 Q9P2C4 TM181_HUMAN G protein-coupled receptor 178 460 Helical; (Potential). pathogenesis integral to membrane toxin binding ovary(2)|central_nervous_system(1) 3 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05) TGAAGGTCTTCTTCATGGTGG 0.547 NaN 0 0 0 0.00308 0 8 153 C7orf50 84310 broad.mit.edu 37 7 1037332 1037332 + Missense_Mutation SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr7:1037332C>T uc003sju.2 - 5 584 c.514G>A c.(514-516)GAG>AAG p.E172K C7orf50_uc003sjs.2_RNA|C7orf50_uc011jvt.1_Missense_Mutation_p.E172K|C7orf50_uc011jvu.1_Missense_Mutation_p.E172K NM_032350 NP_115726 Q9BRJ6 CG050_HUMAN hypothetical protein LOC84310 172 protein binding 0 Ovarian(82;0.0779) UCEC - Uterine corpus endometrioid carcinoma (27;0.0216)|OV - Ovarian serous cystadenocarcinoma(56;1.3e-15) GAGCCCTCCTCATCCAGCTCC 0.711 NaN 0 0 0 0.004482 0 8 80 FTSJ2 29960 broad.mit.edu 37 7 2274900 2274900 + Missense_Mutation SNP G G C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr7:2274900G>C uc003slm.2 - 3 627 c.598C>G c.(598-600)CAA>GAA p.Q200E MAD1L1_uc003slh.1_5'Flank|MAD1L1_uc003slf.1_5'Flank|MAD1L1_uc003slg.1_5'Flank|MAD1L1_uc010ksh.1_5'Flank|MAD1L1_uc003sli.1_5'Flank|MAD1L1_uc010ksi.1_5'Flank|MAD1L1_uc010ksj.2_5'Flank|FTSJ2_uc003slk.2_Missense_Mutation_p.Q46E|FTSJ2_uc003sll.2_Missense_Mutation_p.Q46E|FTSJ2_uc003sln.2_RNA|FTSJ2_uc003slo.2_Missense_Mutation_p.Q46E NM_013393 NP_037525 Q9UI43 RRMJ2_HUMAN FtsJ homolog 2 200 cell proliferation mitochondrion|nucleolus nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity ovary(1) 1 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14) CGACGGCTTTGACTTCCAGCC 0.507 NaN 0 0 0 0.00245 0 15 105 DNAH11 8701 broad.mit.edu 37 7 21920404 21920404 + Missense_Mutation SNP A A G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr7:21920404A>G uc003svc.2 + 76 12332 c.12301A>G c.(12301-12303)AGA>GGA p.R4101G NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 4101 AAA 6 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 TGTTGCTGGGAGACTGAGGTT 0.478 NaN Kartagener_syndrome 0 0 0 0.008291 0 11 120 EGFR 1956 broad.mit.edu 37 7 55259449 55259449 + Missense_Mutation SNP G G A rs146121458 TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr7:55259449G>A uc003tqk.2 + 21 2753 c.2507G>A c.(2506-2508)CGC>CAC p.R836H EGFR_uc010kzg.1_Missense_Mutation_p.R791H|EGFR_uc011kco.1_Missense_Mutation_p.R783H|uc003tqo.2_5'Flank NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 836 Cytoplasmic (Potential).|Protein kinase. activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.R836C(2)|p.R836R(1)|p.R836S(1) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) TTGGTGCACCGCGACCTGGCA 0.537 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 0 0 0 0.008291 0 10 117 TPST1 8460 broad.mit.edu 37 7 65705842 65705842 + Missense_Mutation SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr7:65705842G>A uc003tuw.2 + 2 782 c.430G>A c.(430-432)GAA>AAA p.E144K TPST1_uc010kzy.2_Intron|TPST1_uc010kzz.2_Missense_Mutation_p.E144K|TPST1_uc010laa.2_Missense_Mutation_p.E144K NM_003596 NP_003587 O60507 TPST1_HUMAN tyrosylprotein sulfotransferase 1 144 Lumenal (Potential). inflammatory response|peptidyl-tyrosine sulfation Golgi membrane|integral to membrane|membrane fraction protein-tyrosine sulfotransferase activity 0 CTTCTTACTAGAAATTATCGT 0.438 NaN 0 0 0 0.009096 0 4 86 PCLO 27445 broad.mit.edu 37 7 82784366 82784366 + Missense_Mutation SNP A A G rs112239934 TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr7:82784366A>G uc003uhx.2 - 2 1880 c.1591T>C c.(1591-1593)TCT>CCT p.S531P PCLO_uc003uhv.2_Missense_Mutation_p.S531P NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 477 Gln-rich.|Pro-rich.|10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 GGCTGTTGAGATGGGGGTTTT 0.557 NaN 0 0 0 0.008291 0 8 357 PCLO 27445 broad.mit.edu 37 7 82784471 82784471 + Missense_Mutation SNP A A G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr7:82784471A>G uc003uhx.2 - 2 1775 c.1486T>C c.(1486-1488)TCA>CCA p.S496P PCLO_uc003uhv.2_Missense_Mutation_p.S496P NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 GGCTTTGCTGAGCCAGGCTGT 0.607 NaN 0 0 0 0.001855 0 11 238 AKAP9 10142 broad.mit.edu 37 7 91691704 91691704 + Missense_Mutation SNP G G C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr7:91691704G>C uc003ulg.2 + 24 6106 c.5881G>C c.(5881-5883)GAA>CAA p.E1961Q AKAP9_uc003ulf.2_Missense_Mutation_p.E1961Q|AKAP9_uc003uli.2_Missense_Mutation_p.E1584Q NM_005751 NP_005742 Q99996 AKAP9_HUMAN A-kinase anchor protein 9 isoform 2 1973 Potential.|Glu-rich. G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1) 26 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) CAGGTTGCAAGAATTGGAGGC 0.403 NaN T BRAF papillary thyroid 0 0 0 0.004482 0 9 120 GIGYF1 64599 broad.mit.edu 37 7 100281007 100281007 + Missense_Mutation SNP G G C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr7:100281007G>C uc003uwg.1 - 18 3122 c.2113C>G c.(2113-2115)CGA>GGA p.R705G NM_022574 NP_072096 O75420 PERQ1_HUMAN PERQ amino acid rich, with GYF domain 1 705 large_intestine(1)|central_nervous_system(1) 2 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) TTCTCCTCTCGACGCTTGCGT 0.647 NaN 0 0 0 0.004656 0 27 245 STMN4 81551 broad.mit.edu 37 8 27099982 27099982 + Missense_Mutation SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr8:27099982G>A uc003xfk.2 - 3 155 c.41C>T c.(40-42)CCG>CTG p.P14L STMN4_uc003xfj.2_Missense_Mutation_p.P14L|STMN4_uc011lai.1_Missense_Mutation_p.P14L|STMN4_uc011laj.1_Missense_Mutation_p.P5L|STMN4_uc011lak.1_Missense_Mutation_p.P14L|STMN4_uc010luo.2_Missense_Mutation_p.P14L Q9H169 STMN4_HUMAN RecName: Full=Stathmin-4; AltName: Full=Stathmin-like protein B3; Short=RB3; 14 intracellular signal transduction large_intestine(1)|pancreas(1) 2 Ovarian(32;0.00167) UCEC - Uterine corpus endometrioid carcinoma (27;0.0214)|Epithelial(17;9.82e-10)|Colorectal(74;0.142) GGACACCAGCGGGAGCTCCTT 0.567 NaN 0 0 0 0.004482 0 9 47 MYST3 7994 broad.mit.edu 37 8 41790659 41790659 + Silent SNP T T G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr8:41790659T>G uc010lxb.2 - 18 5623 c.5079A>C c.(5077-5079)CCA>CCC p.P1693P MYST3_uc010lxc.2_Silent_p.P1693P|MYST3_uc003xon.3_Silent_p.P1693P NM_001099412 NP_001092882 Q92794 MYST3_HUMAN MYST histone acetyltransferase (monocytic 1693 Gln/Pro-rich. histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1) 7 all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211) all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983) Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171) ggggagggggtgggggtggag 0.164 NaN 0 0 0 0.001855 0 5 17 AP3M2 10947 broad.mit.edu 37 8 42023048 42023048 + Missense_Mutation SNP G G T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr8:42023048G>T uc003xop.2 + 7 1064 c.773G>T c.(772-774)CGC>CTC p.R258L AP3M2_uc003xoo.2_Missense_Mutation_p.R258L|AP3M2_uc010lxe.2_RNA|AP3M2_uc003xoq.1_Missense_Mutation_p.R143L|AP3M2_uc003xor.1_Missense_Mutation_p.R258L NM_001134296 NP_001127768 P53677 AP3M2_HUMAN adaptor-related protein complex 3, mu 2 subunit 258 MHD. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|Golgi apparatus 0 all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211) all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983) BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024) GGAAACTTCCGCCTGCTGTCT 0.448 NaN 1 0 2.61681e-11 0.00245 2.84009e-11 14 216 PLAG1 5324 broad.mit.edu 37 8 57079984 57079984 + Silent SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr8:57079984C>T uc003xsq.3 - 3 772 c.321G>A c.(319-321)CTG>CTA p.L107L PLAG1_uc003xsr.3_Silent_p.L107L|PLAG1_uc010lyi.2_Silent_p.L107L|PLAG1_uc010lyj.2_Silent_p.L25L NM_001114635 NP_001108107 Q6DJT9 PLAG1_HUMAN pleiomorphic adenoma gene 1 isoform b 107 Decreased nuclear import with localization in the nucleus but also in the cytoplasm.|C2H2-type 3. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding CTNNB1/PLAG1(60)|FGFR1_ENST00000447712/PLAG1(28)|CHCHD7/PLAG1(12)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|COL1A2/PLAG1(3)|TCEA1_ENST00000521604/PLAG1(3) salivary_gland(113)|soft_tissue(13)|lung(1)|central_nervous_system(1)|breast(1) 129 all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125) Epithelial(17;0.00179)|all cancers(17;0.0125) GGTGATTCTTCAGATGATCTT 0.393 NaN T TCEA1|LIFR|CTNNB1|CHCHD7 salivary adenoma 0 0 0 0.009096 0 4 28 CPA6 57094 broad.mit.edu 37 8 68334769 68334769 + Silent SNP G G T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr8:68334769G>T uc003xxq.3 - 11 1540 c.1284C>A c.(1282-1284)ATC>ATA p.I428I CPA6_uc003xxr.3_Silent_p.I184I NM_020361 NP_065094 Q8N4T0 CBPA6_HUMAN carboxypeptidase A6 isoform 1 precursor 428 proteolysis proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding ovary(2) 2 Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136) GGTGCATTGTGATATTTTTCA 0.453 NaN 1 0 4.3838e-07 0.001855 4.66237e-07 12 173 VPS13B 157680 broad.mit.edu 37 8 100796630 100796630 + Missense_Mutation SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr8:100796630G>A uc003yiv.2 + 43 8053 c.7942G>A c.(7942-7944)GAT>AAT p.D2648N VPS13B_uc003yiw.2_Missense_Mutation_p.D2623N NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 2648 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) TGGCCAGGTGGATACTGATGA 0.468 NaN 0 0 0 0.012319 0 22 179 YWHAZ 7534 broad.mit.edu 37 8 101932934 101932934 + Missense_Mutation SNP C C G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr8:101932934C>G uc011lhe.1 - 6 902 c.725G>C c.(724-726)GGA>GCA p.G242A YWHAZ_uc003yjv.2_Missense_Mutation_p.G242A|YWHAZ_uc011lhf.1_Missense_Mutation_p.G242A|YWHAZ_uc003yjw.2_Missense_Mutation_p.G242A|YWHAZ_uc010mbq.2_Missense_Mutation_p.G165A|YWHAZ_uc011lhg.1_Missense_Mutation_p.G122A|YWHAZ_uc010mbr.2_Missense_Mutation_p.G242A|YWHAZ_uc003yjx.2_Missense_Mutation_p.G242A NM_001135702 NP_001129174 P63104 1433Z_HUMAN tyrosine 3/tryptophan 5 -monooxygenase 242 anti-apoptosis|mRNA metabolic process|platelet activation|signal transduction cytosol|melanosome transcription factor binding 0 all_cancers(14;7.43e-06)|all_epithelial(15;2.77e-08)|Lung NSC(17;6.08e-05)|all_lung(17;0.000197) Epithelial(11;2.79e-11)|all cancers(13;5.45e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.75e-05) Ginkgo biloba(DB01381) ATTTTCCCCTCCTTCTCCTGC 0.453 NaN 0 0 0 0.001984 0 6 88 CSMD3 114788 broad.mit.edu 37 8 113299395 113299395 + Missense_Mutation SNP T T A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr8:113299395T>A uc003ynu.2 - 58 9388 c.9229A>T c.(9229-9231)ACT>TCT p.T3077S CSMD3_uc003yns.2_Missense_Mutation_p.T2279S|CSMD3_uc003ynt.2_Missense_Mutation_p.T3037S|CSMD3_uc011lhx.1_Missense_Mutation_p.T2908S NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3077 Extracellular (Potential).|Sushi 22. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 TAACGTACAGTACTTTTAGTT 0.473 NaN HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 0 0 0 0.004482 0 9 130 DENND3 22898 broad.mit.edu 37 8 142161801 142161801 + Silent SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr8:142161801C>T uc003yvy.2 + 7 977 c.699C>T c.(697-699)TTC>TTT p.F233F DENND3_uc010mep.2_Silent_p.F246F NM_014957 NP_055772 A2RUS2 DEND3_HUMAN DENN/MADD domain containing 3 233 DENN. ovary(1) 1 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) CTGAGTGCTTCATGGCCTACC 0.602 NaN 0 0 0 0.013726 0 36 168 KIFC2 90990 broad.mit.edu 37 8 145693121 145693121 + Missense_Mutation SNP G G C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr8:145693121G>C uc003zcz.2 + 6 705 c.640G>C c.(640-642)GAA>CAA p.E214Q CYHR1_uc003zcv.2_5'Flank|CYHR1_uc003zcw.2_5'Flank|CYHR1_uc003zcx.2_5'Flank|CYHR1_uc003zcy.2_5'Flank NM_145754 NP_665697 Q96AC6 KIFC2_HUMAN kinesin family member C2 214 Potential.|Gln-rich. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding ovary(2)|central_nervous_system(1) 3 all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) GCAGCAGCTGGAACAGCAGGA 0.647 NaN OREG0019057 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.00245 0 15 97 PLIN2 123 broad.mit.edu 37 9 19119735 19119735 + Silent SNP A A T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr9:19119735A>T uc003zno.2 - 6 869 c.690T>A c.(688-690)CGT>CGA p.R230R PLIN2_uc011lna.1_Silent_p.R202R|PLIN2_uc011lnb.1_Missense_Mutation_p.V187E NM_001122 NP_001113 Q99541 PLIN2_HUMAN adipose differentiation-related protein 230 cellular lipid metabolic process endoplasmic reticulum|extracellular region|lipid particle ovary(2) 2 GCTGGTAGGCACGGGAGTGAA 0.433 NaN 0 0 0 0.008291 0 10 140 PLIN2 123 broad.mit.edu 37 9 19119764 19119764 + Nonsense_Mutation SNP C C A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr9:19119764C>A uc003zno.2 - 6 840 c.661G>T c.(661-663)GGA>TGA p.G221* PLIN2_uc011lna.1_Nonsense_Mutation_p.G193*|PLIN2_uc011lnb.1_Missense_Mutation_p.W177C NM_001122 NP_001113 Q99541 PLIN2_HUMAN adipose differentiation-related protein 221 cellular lipid metabolic process endoplasmic reticulum|extracellular region|lipid particle ovary(2) 2 GACAGGGATCCCAGTCTAACA 0.413 NaN 1 0 7.48243e-07 0.006214 7.93137e-07 8 140 PLIN2 123 broad.mit.edu 37 9 19121087 19121087 + Missense_Mutation SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr9:19121087G>A uc003zno.2 - 5 565 c.386C>T c.(385-387)TCT>TTT p.S129F PLIN2_uc011lna.1_Missense_Mutation_p.S101F|PLIN2_uc011lnb.1_Missense_Mutation_p.S129F NM_001122 NP_001113 Q99541 PLIN2_HUMAN adipose differentiation-related protein 129 cellular lipid metabolic process endoplasmic reticulum|extracellular region|lipid particle ovary(2) 2 GCTGGCCACAGAATCCTTGGC 0.532 NaN 0 0 0 0.001984 0 7 72 KIAA1161 57462 broad.mit.edu 37 9 34372105 34372105 + Silent SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr9:34372105C>T uc003zue.3 - 3 1004 c.837G>A c.(835-837)CTG>CTA p.L279L NM_020702 NP_065753 Q6NSJ0 K1161_HUMAN hypothetical protein LOC57462 279 Extracellular (Potential). carbohydrate metabolic process integral to membrane hydrolase activity, hydrolyzing O-glycosyl compounds ovary(1)|breast(1)|central_nervous_system(1) 3 LUSC - Lung squamous cell carcinoma(29;0.0107) GBM - Glioblastoma multiforme(74;0.126) CTCGGTAGCTCAGCTCTGGCG 0.667 NaN 0 0 0 0.000602 0 4 57 KIAA1161 57462 broad.mit.edu 37 9 34372876 34372876 + Silent SNP T T C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr9:34372876T>C uc003zue.3 - 2 233 c.66A>G c.(64-66)GCA>GCG p.A22A NM_020702 NP_065753 Q6NSJ0 K1161_HUMAN hypothetical protein LOC57462 22 Cytoplasmic (Potential). carbohydrate metabolic process integral to membrane hydrolase activity, hydrolyzing O-glycosyl compounds ovary(1)|breast(1)|central_nervous_system(1) 3 LUSC - Lung squamous cell carcinoma(29;0.0107) GBM - Glioblastoma multiforme(74;0.126) TCTGACGCTATGCGTAGCAGC 0.637 NaN 0 0 0 0.008291 0 11 224 TRPM3 80036 broad.mit.edu 37 9 73167853 73167853 + Missense_Mutation SNP T T C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr9:73167853T>C uc004aid.2 - 23 3689 c.3445A>G c.(3445-3447)ATC>GTC p.I1149V TRPM3_uc004ahu.2_Missense_Mutation_p.I991V|TRPM3_uc004ahv.2_Missense_Mutation_p.I951V|TRPM3_uc004ahw.2_Missense_Mutation_p.I1021V|TRPM3_uc004ahx.2_Missense_Mutation_p.I1008V|TRPM3_uc004ahy.2_Missense_Mutation_p.I1011V|TRPM3_uc004ahz.2_Missense_Mutation_p.I998V|TRPM3_uc004aia.2_Missense_Mutation_p.I996V|TRPM3_uc004aib.2_Missense_Mutation_p.I986V|TRPM3_uc004aic.2_Missense_Mutation_p.I1149V NM_001007471 NP_001007472 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, 1174 Cytoplasmic (Potential). integral to membrane calcium channel activity ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2) 9 CTGAAGATGATCAGTGGTGGG 0.483 NaN 0 0 0 0.010504 0 22 202 FRMD3 257019 broad.mit.edu 37 9 85913693 85913693 + Missense_Mutation SNP T T A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr9:85913693T>A uc004ams.1 - 12 1242 c.1040A>T c.(1039-1041)AAG>ATG p.K347M FRMD3_uc004amr.1_Missense_Mutation_p.K333M NM_174938 NP_777598 A2A2Y4 FRMD3_HUMAN FERM domain containing 3 347 cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane cytoskeletal protein binding ovary(1)|central_nervous_system(1) 2 CCTCTGGATCTTGGAACTGGC 0.498 NaN 0 0 0 0.001984 0 7 61 DAPK1 1612 broad.mit.edu 37 9 90262280 90262280 + Missense_Mutation SNP C C G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr9:90262280C>G uc004apc.2 + 14 1429 c.1291C>G c.(1291-1293)CTC>GTC p.L431V DAPK1_uc004ape.2_Missense_Mutation_p.L431V|DAPK1_uc004apd.2_Missense_Mutation_p.L431V|DAPK1_uc011ltg.1_Missense_Mutation_p.L431V|DAPK1_uc011lth.1_Missense_Mutation_p.L168V|DAPK1_uc004apf.1_5'UTR NM_004938 NP_004929 P53355 DAPK1_HUMAN death-associated protein kinase 1 431 ANK 2. apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade actin cytoskeleton|cytoplasm ATP binding|calmodulin binding|protein serine/threonine kinase activity ovary(1)|breast(1) 2 CTTGAAATTTCTCAGTGAGAA 0.502 NaN Chronic_Lymphocytic_Leukemia_Familial_Clustering_of 0 0 0 0.001855 0 13 69 ALAD 210 broad.mit.edu 37 9 116152053 116152053 + Missense_Mutation SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr9:116152053C>T uc011lxf.1 - 8 828 c.626G>A c.(625-627)CGG>CAG p.R209Q ALAD_uc011lxe.1_Missense_Mutation_p.R192Q|ALAD_uc004bhl.3_Missense_Mutation_p.R238Q NM_000031 NP_000022 P13716 HEM2_HUMAN delta-aminolevulinic acid dehydratase 209 Substrate 1. heme biosynthetic process|protein homooligomerization cytosol identical protein binding|lead ion binding|porphobilinogen synthase activity|zinc ion binding 0 Aminolevulinic acid(DB00855) CCCTGCTCACCGGAAAGGGCC 0.562 NaN 0 0 0 0.001168 0 6 41 ADAMTS13 11093 broad.mit.edu 37 9 136324257 136324257 + Silent SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr9:136324257G>A uc004cdv.3 + 29 4683 c.4239G>A c.(4237-4239)CCG>CCA p.P1413P ADAMTS13_uc004cdp.3_3'UTR|ADAMTS13_uc004cdt.1_Silent_p.P1357P|ADAMTS13_uc004cdu.1_Silent_p.P1326P|ADAMTS13_uc004cdw.3_Silent_p.P1357P|ADAMTS13_uc004cdx.3_Silent_p.P1326P|ADAMTS13_uc004cdz.3_Silent_p.P1083P|ADAMTS13_uc004ceb.3_Silent_p.P209P|C9orf7_uc011mdg.1_5'Flank|C9orf7_uc004cec.2_5'Flank|C9orf7_uc011mdh.1_5'Flank|C9orf7_uc011mdi.1_5'Flank|C9orf7_uc010nan.2_5'Flank NM_139025 NP_620594 Q76LX8 ATS13_HUMAN ADAM metallopeptidase with thrombospondin type 1 1413 CUB 2. cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis cell surface|proteinaceous extracellular matrix calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding central_nervous_system(2)|skin(2)|ovary(1)|kidney(1) 6 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) CATGGGTACCGGAGATGCAGG 0.597 NaN 0 0 0 0.004672 0 3 27 RXRA 6256 broad.mit.edu 37 9 137328331 137328331 + Silent SNP C C G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr9:137328331C>G uc004cfb.2 + 10 1422 c.1260C>G c.(1258-1260)CTC>CTG p.L420L RXRA_uc004cfc.1_Silent_p.L323L NM_002957 NP_002948 P19793 RXRA_HUMAN retinoid X receptor, alpha 420 Ligand-binding. cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process nuclear chromatin|nucleoplasm enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926) AGCTCTTGCTCCGCCTGCCGG 0.612 NaN 0 0 0 0.004482 0 9 144 ANAPC2 29882 broad.mit.edu 37 9 140074639 140074639 + Missense_Mutation SNP C C G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr9:140074639C>G uc004clr.1 - 10 1957 c.1884G>C c.(1882-1884)CAG>CAC p.Q628H ANAPC2_uc004clq.1_Missense_Mutation_p.Q484H NM_013366 NP_037498 Q9UJX6 ANC2_HUMAN anaphase-promoting complex subunit 2 628 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity anaphase-promoting complex|cytosol|nucleoplasm ubiquitin protein ligase binding|ubiquitin-protein ligase activity ovary(1) 1 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858) GTACCTTGAGCTGCTCATACT 0.632 NaN 0 0 0 0.000602 0 5 38 ANAPC2 29882 broad.mit.edu 37 9 140076196 140076196 + Missense_Mutation SNP C C T rs142080330 TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr9:140076196C>T uc004clr.1 - 7 1478 c.1405G>A c.(1405-1407)GAC>AAC p.D469N ANAPC2_uc004clq.1_Missense_Mutation_p.D325N NM_013366 NP_037498 Q9UJX6 ANC2_HUMAN anaphase-promoting complex subunit 2 469 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity anaphase-promoting complex|cytosol|nucleoplasm ubiquitin protein ligase binding|ubiquitin-protein ligase activity ovary(1) 1 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858) TCCTCACTGTCCTGGCCTGTC 0.652 NaN 0 0 0 0.000602 0 5 45 MXRA5 25878 broad.mit.edu 37 X 3238516 3238516 + Missense_Mutation SNP G G C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chrX:3238516G>C uc004crg.3 - 5 5367 c.5210C>G c.(5209-5211)ACT>AGT p.T1737S NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN adlican precursor 1737 extracellular region ovary(5)|lung(1)|central_nervous_system(1)|skin(1) 8 all_lung(23;0.00031)|Lung NSC(23;0.000946) AAAAGAAAGAGTCTTGTTGGT 0.463 NaN 0 0 0 0.014323 0 24 28 USP11 8237 broad.mit.edu 37 X 47092454 47092454 + Silent SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chrX:47092454C>T uc004dhp.2 + 1 141 c.141C>T c.(139-141)GTC>GTT p.V47V NM_004651 NP_004642 P51784 UBP11_HUMAN ubiquitin specific peptidase 11 47 protein deubiquitination|ubiquitin-dependent protein catabolic process cytoplasm|nucleus cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(1)|lung(1)|central_nervous_system(1) 3 tggcgacggtcgcagcaaatc 0.383 NaN 0 0 0 0.00308 0 7 16 APEX2 27301 broad.mit.edu 37 X 55033806 55033806 + Missense_Mutation SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chrX:55033806C>T uc004dtz.2 + 6 1571 c.1495C>T c.(1495-1497)CGG>TGG p.R499W APEX2_uc011mom.1_Missense_Mutation_p.R328W NM_014481 NP_055296 Q9UBZ4 APEX2_HUMAN apurinic/apyrimidinic endonuclease 2 499 cell cycle|DNA recombination|DNA repair nucleus DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding breast(1) 1 TGCCAGGCCCCGGGGTCCTCC 0.642 NaN Other_BER_factors 0 0 0 0.009096 0 4 13 KLHL4 56062 broad.mit.edu 37 X 86869502 86869502 + Missense_Mutation SNP A A G TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chrX:86869502A>G uc004efb.2 + 3 838 c.656A>G c.(655-657)AAA>AGA p.K219R KLHL4_uc004efa.2_Missense_Mutation_p.K219R NM_019117 NP_061990 Q9C0H6 KLHL4_HUMAN kelch-like 4 isoform 1 219 BTB. cytoplasm|microtubule cytoskeleton|nucleolus actin binding ovary(2)|lung(1)|breast(1)|central_nervous_system(1) 5 CTTGAAGCCAAACAAGAAGAG 0.378 NaN 0 0 0 0.000602 0 5 40 ODZ1 10178 broad.mit.edu 37 X 123554332 123554332 + Missense_Mutation SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chrX:123554332G>A uc004euj.2 - 24 4854 c.4790C>T c.(4789-4791)CCG>CTG p.P1597L ODZ1_uc011muj.1_Missense_Mutation_p.P1603L|ODZ1_uc010nqy.2_Missense_Mutation_p.P1604L NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 1597 Extracellular (Potential). immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 23 AAGCCATAGCGGCATTCCGCC 0.493 NaN 0 0 0 0.004672 0 3 42 DCAF12L1 139170 broad.mit.edu 37 X 125685907 125685907 + Missense_Mutation SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chrX:125685907C>T uc004eul.2 - 1 936 c.685G>A c.(685-687)GAC>AAC p.D229N NM_178470 NP_848565 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 229 WD 2. skin(3)|ovary(1) 4 GCAACAGTGTCATCGAACTTG 0.637 NaN 0 0 0 0.006122 0 19 42 FAM127B 26071 broad.mit.edu 37 X 134186001 134186001 + Missense_Mutation SNP C C A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chrX:134186001C>A uc004eyf.2 - 1 221 c.138G>T c.(136-138)CAG>CAT p.Q46H FAM127B_uc004eyg.3_Missense_Mutation_p.Q46H NM_001078172 NP_001071640 Q9BWD3 F127B_HUMAN family with sequence similarity 127, member B 46 0 Acute lymphoblastic leukemia(192;0.000127) AGGAGCTCGTCTGCACGATGA 0.652 NaN 1 0 2.81731e-10 0.010818 3.0473e-10 32 59 OPN1LW 5956 broad.mit.edu 37 X 153420214 153420214 + Silent SNP G G A rs139583770 TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chrX:153420214G>A uc004fjz.3 + 4 777 c.744G>A c.(742-744)GCG>GCA p.A248A NM_020061 NP_064445 P04000 OPSR_HUMAN opsin 1 (cone pigments), long-wave-sensitive 248 Cytoplasmic. phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity 0 all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CCATCCGAGCGGTAAGCCCCC 0.547 NaN 0 0 0 0.00245 0 12 62 ZZZ3 26009 broad.mit.edu 37 1 78098534 78098536 + In_Frame_Del DEL AGT AGT - TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr1:78098534_78098536delAGT uc001dhq.2 - 5 980_982 c.504_506delACT c.(502-507)ATACTG>ATG p.168_169IL>M ZZZ3_uc001dhr.2_Intron|ZZZ3_uc009wbz.1_In_Frame_Del_p.168_169IL>M|ZZZ3_uc001dhp.2_In_Frame_Del_p.168_169IL>M NM_015534 NP_056349 Q8IYH5 ZZZ3_HUMAN zinc finger, ZZ-type containing 3 168_169 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|large_intestine(1) 5 ACAATCATCCAGTATAAGACATC 0.409 NaN NaN NaN NaN NaN NaN 14 223 --- --- TXNIP 10628 broad.mit.edu 37 1 145440508 145440509 + Frame_Shift_Ins INS - - T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 - T - - Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr1:145440508_145440509insT uc001enn.3 + 5 1155_1156 c.814_815insT c.(814-816)GTTfs p.V272fs NBPF10_uc001emp.3_Intron|TXNIP_uc001enm.1_Intron|TXNIP_uc010oys.1_Frame_Shift_Ins_p.V217fs NM_006472 NP_006463 Q9H3M7 TXNIP_HUMAN thioredoxin interacting protein 272 cell cycle|keratinocyte differentiation|transcription, DNA-dependent ubiquitin protein ligase binding ovary(2) 2 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CATCCTTCGAGTTGAATATTCC 0.485 NaN NaN NaN NaN NaN NaN 20 184 --- --- TMEM19 55266 broad.mit.edu 37 12 72094757 72094757 + Frame_Shift_Del DEL T T - TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr12:72094757delT uc001sws.2 + 6 1576 c.993delT c.(991-993)GGTfs p.G331fs TMEM19_uc009zru.1_RNA NM_018279 NP_060749 Q96HH6 TMM19_HUMAN transmembrane protein 19 331 Helical; (Potential). integral to membrane 0 Breast(359;0.0889) GBM - Glioblastoma multiforme(134;0.044) CTGCTTGGGGTTTTTGGCCCA 0.433 NaN NaN NaN NaN NaN NaN 7 464 --- --- GPR81 27198 broad.mit.edu 37 12 123214852 123214853 + Frame_Shift_Ins INS - - C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr12:123214852_123214853insC uc001ucz.2 - 1 277_278 c.34_35insG c.(34-36)GACfs p.D12fs GPR81_uc001ucw.1_RNA NM_032554 NP_115943 Q9BXC0 HCAR1_HUMAN G protein-coupled receptor 81 12 Extracellular (Potential). response to estradiol stimulus integral to membrane|plasma membrane G-protein coupled receptor activity 0 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.14e-05)|Epithelial(86;3.25e-05)|BRCA - Breast invasive adenocarcinoma(302;0.197) GGAGATGGTGTCCCCCTCGATG 0.619 NaN NaN NaN NaN NaN NaN 8 53 --- --- CHD2 1106 broad.mit.edu 37 15 93545433 93545434 + Frame_Shift_Ins INS - - A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr15:93545433_93545434insA uc002bsp.2 + 33 4739_4740 c.4164_4165insA c.(4162-4167)ATGAAAfs p.M1388fs CHD2_uc002bso.1_Frame_Shift_Ins_p.M1388fs NM_001271 NP_001262 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 1388_1389 regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(1)|skin(1) 2 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) AAAGTCCAATgaaaaaaaaaca 0.158 NaN NaN NaN NaN NaN NaN 7 147 --- --- TBC1D24 57465 broad.mit.edu 37 16 2546657 2546657 + Frame_Shift_Del DEL G G - TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr16:2546657delG uc002cql.2 + 2 648 c.508delG c.(508-510)GACfs p.D170fs TBC1D24_uc002cqk.2_Frame_Shift_Del_p.D170fs|TBC1D24_uc002cqm.2_Frame_Shift_Del_p.D170fs|TBC1D24_uc010bsm.2_5'Flank NM_020705 NP_065756 Q9ULP9 TBC24_HUMAN TBC1 domain family, member 24 170 Rab-GAP TBC. neuron projection development cytoplasm protein binding|Rab GTPase activator activity 0 GAGGCTGATCGACCAGAGCTT 0.632 NaN NaN NaN NaN NaN NaN 7 64 --- --- MNT 4335 broad.mit.edu 37 17 2290220 2290220 + Frame_Shift_Del DEL G G - TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr17:2290220delG uc002fur.2 - 6 1976 c.1724delC c.(1723-1725)CCAfs p.P575fs NM_020310 NP_064706 Q99583 MNT_HUMAN MAX binding protein 575 multicellular organismal development|negative regulation of cell proliferation|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity skin(1) 1 Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05) TGTGCTGACTGGGAAGGAGGG 0.667 NaN NaN NaN NaN NaN NaN 2 4 --- --- GPR75 10936 broad.mit.edu 37 2 54080472 54080472 + Frame_Shift_Del DEL G G - TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr2:54080472delG uc002rxo.3 - 2 1693 c.1422delC c.(1420-1422)CCCfs p.P474fs ASB3_uc002rxi.3_Intron NM_006794 NP_006785 O95800 GPR75_HUMAN G protein-coupled receptor 75 474 Cytoplasmic (Potential). integral to plasma membrane G-protein coupled receptor activity ovary(1)|skin(1) 2 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) GAGTGTTGATGGGGGTCGAGC 0.493 NaN NaN NaN NaN NaN NaN 19 312 --- --- DBR1 51163 broad.mit.edu 37 3 137880741 137880743 + In_Frame_Del DEL TCG TCG - rs150114751 byFrequency TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chr3:137880741_137880743delTCG uc003erv.2 - 8 1759_1761 c.1623_1625delCGA c.(1621-1626)GATGAT>GAT p.541_542DD>D DBR1_uc003eru.2_In_Frame_Del_p.490_491DD>D|DBR1_uc003ert.2_In_Frame_Del_p.309_310DD>D NM_016216 NP_057300 Q9UK59 DBR1_HUMAN debranching enzyme homolog 1 541_542 nucleus metal ion binding|RNA lariat debranching enzyme activity 0 TTAAGCTGCATCGTCATCATCAT 0.251 NaN NaN NaN NaN NaN NaN 7 110 --- --- ARHGEF6 9459 broad.mit.edu 37 X 135814312 135814312 + Frame_Shift_Del DEL T T - TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96f22906-0909-46d1-b737-1d949eb8091e 71d73e3d-61ad-4125-875a-5085ebf382af g.chrX:135814312delT uc004fab.2 - 6 1143 c.681delA c.(679-681)AAAfs p.K227fs ARHGEF6_uc011mwd.1_Frame_Shift_Del_p.K100fs|ARHGEF6_uc011mwe.1_Frame_Shift_Del_p.K73fs NM_004840 NP_004831 Q15052 ARHG6_HUMAN Rac/Cdc42 guanine nucleotide exchange factor 6 227 apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|Rho guanyl-nucleotide exchange factor activity 0 Acute lymphoblastic leukemia(192;0.000127) CTTTGACGGCTTTTGGGGAGA 0.328 NaN NaN NaN NaN NaN NaN 2 4 --- ---