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 AGRN 375790 broad.mit.edu 37 1 979010 979010 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr1:979010G>A uc001ack.1 + 9 1746 c.1696G>A c.(1696-1698)GTG>ATG p.V566M NM_198576 NP_940978 O00468 AGRIN_HUMAN agrin precursor 566 Kazal-like 6. axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering basal lamina laminin binding|structural constituent of cytoskeleton central_nervous_system(2)|breast(1) 3 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201) GGCCCAGCCCGTGTGTGGCTC 0.692000 PER3 8863 broad.mit.edu 37 1 7887631 7887631 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr1:7887631C>T uc001aoo.2 + 17 2793 c.2618C>T c.(2617-2619)GCG>GTG p.A873V PER3_uc009vmg.1_Missense_Mutation_p.A881V|PER3_uc009vmh.1_Missense_Mutation_p.A874V|PER3_uc001aop.2_Missense_Mutation_p.A881V|PER3_uc010nzw.1_Missense_Mutation_p.A562V NM_016831 NP_058515 P56645 PER3_HUMAN period 3 873 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity ovary(1)|pancreas(1)|skin(1) 3 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649) TTCCTGGGGGCGACAGCCTCT 0.527000 TNFRSF9 3604 broad.mit.edu 37 1 7995117 7995117 + Missense_Mutation SNP G G A rs145966863 byFrequency TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr1:7995117G>A uc001aot.2 - 6 628 c.500C>T c.(499-501)CCG>CTG p.P167L NM_001561 NP_001552 Q07011 TNR9_HUMAN tumor necrosis factor receptor superfamily, 167 Extracellular (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) GGATGCTCCCGGAGAGAGGTC 0.542000 ARHGEF10L 55160 broad.mit.edu 37 1 17952451 17952451 + Nonsense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr1:17952451C>T uc001ban.2 + 14 1477 c.1318C>T c.(1318-1320)CGA>TGA p.R440* ARHGEF10L_uc009vpe.1_Nonsense_Mutation_p.R401*|ARHGEF10L_uc001bao.2_Nonsense_Mutation_p.R401*|ARHGEF10L_uc001bap.2_Nonsense_Mutation_p.R401*|ARHGEF10L_uc010ocr.1_Nonsense_Mutation_p.R198*|ARHGEF10L_uc001baq.2_Nonsense_Mutation_p.R206*|ARHGEF10L_uc010ocs.1_Nonsense_Mutation_p.R218*|ARHGEF10L_uc001bar.2_Intron|ARHGEF10L_uc009vpf.2_RNA NM_018125 NP_060595 Q9HCE6 ARGAL_HUMAN Rho guanine nucleotide exchange factor (GEF) 440 DH. regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity large_intestine(1)|ovary(1)|pancreas(1) 3 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204) TCTCCACCAGCGACGGCAGGT 0.617000 MRTO4 51154 broad.mit.edu 37 1 19583994 19583994 + Missense_Mutation SNP G G A rs114437725 byFrequency TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr1:19583994G>A uc001bbs.2 + 5 575 c.320G>A c.(319-321)CGC>CAC p.R107H NM_016183 NP_057267 Q9UKD2 MRT4_HUMAN mRNA turnover 4 homolog 107 ribosome biogenesis nuclear membrane|nucleolus 0 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) TTCACCAACCGCACAAAGGAG 0.488000 HSPG2 3339 broad.mit.edu 37 1 22160079 22160079 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr1:22160079C>T uc001bfj.2 - 79 10899 c.10859G>A c.(10858-10860)CGC>CAC p.R3620H HSPG2_uc001bfi.2_5'Flank|HSPG2_uc009vqd.2_Missense_Mutation_p.R3621H NM_005529 NP_005520 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 precursor 3620 Ig-like C2-type 22. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1) 9 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) GTTCTCCAGGCGGCTGTCAGG 0.637000 ZBTB40 9923 broad.mit.edu 37 1 22848916 22848916 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr1:22848916G>A uc001bft.2 + 17 3769 c.3258G>A c.(3256-3258)ACG>ACA p.T1086T ZBTB40_uc001bfu.2_Silent_p.T1086T|ZBTB40_uc009vqi.1_Silent_p.T974T NM_001083621 NP_001077090 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 1086 C2H2-type 10. bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) TCTTCCCCACGCCAGCCTTGC 0.403000 EXTL1 2134 broad.mit.edu 37 1 26360246 26360246 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr1:26360246G>A uc001blf.2 + 9 2445 c.1578G>A c.(1576-1578)ACG>ACA p.T526T NM_004455 NP_004446 Q92935 EXTL1_HUMAN exostoses-like 1 526 Lumenal (Potential). skeletal system development integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding central_nervous_system(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649) GCTTCCTGACGTCGAGCCATT 0.582000 CATSPER4 378807 broad.mit.edu 37 1 26524487 26524487 + Silent SNP C C A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr1:26524487C>A uc010oez.1 + 5 597 c.597C>A c.(595-597)CCC>CCA p.P199P CATSPER4_uc010oey.1_Silent_p.P21P|CATSPER4_uc009vsf.2_RNA NM_198137 NP_937770 Q7RTX7 CTSR4_HUMAN cation channel, sperm associated 4 199 Cytoplasmic (Potential). cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|voltage-gated ion channel activity ovary(1) 1 all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649) CGGTGGAGCCCCTCGCCCGGA 0.637000 ARID1A 8289 broad.mit.edu 37 1 27099008 27099008 + Nonsense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr1:27099008C>T uc001bmv.1 + 13 3797 c.3424C>T c.(3424-3426)CAG>TAG p.Q1142* ARID1A_uc001bmt.1_Nonsense_Mutation_p.Q1142*|ARID1A_uc001bmu.1_Nonsense_Mutation_p.Q1142*|ARID1A_uc001bmw.1_Nonsense_Mutation_p.Q759*|ARID1A_uc001bmx.1_5'UTR|ARID1A_uc009vsm.1_5'Flank|ARID1A_uc009vsn.1_5'Flank NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 1142 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 142 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) AGGATCTATGCAGGGGCCCCA 0.527000 Mis|N|F|S|D clear cell ovarian carcinoma|RCC ARID1A 8289 broad.mit.edu 37 1 27106861 27106861 + Nonsense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr1:27106861C>T uc001bmv.1 + 20 6845 c.6472C>T c.(6472-6474)CGA>TGA p.R2158* ARID1A_uc001bmu.1_Nonsense_Mutation_p.R1941*|ARID1A_uc001bmx.1_Nonsense_Mutation_p.R1004*|ARID1A_uc009vsm.1_Nonsense_Mutation_p.R486*|ARID1A_uc009vsn.1_Nonsense_Mutation_p.R400* NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 2158 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding p.R2158*(1) ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 142 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) CCTCAGTGACCGAAAGAACCC 0.597000 Mis|N|F|S|D clear cell ovarian carcinoma|RCC FAM46B 115572 broad.mit.edu 37 1 27332693 27332693 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr1:27332693G>A uc010ofj.1 - 2 1192 c.1020C>T c.(1018-1020)TAC>TAT p.Y340Y NM_052943 NP_443175 Q96A09 FA46B_HUMAN hypothetical protein LOC115572 340 central_nervous_system(1) 1 all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419) CCAGGCAGGCGTAACGGCGGG 0.662000 TAF12 6883 broad.mit.edu 37 1 28948573 28948573 + Silent SNP T T C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr1:28948573T>C uc001bqw.2 - 1 114 c.21A>G c.(19-21)TCA>TCG p.S7S TAF12_uc001bqx.2_Silent_p.S7S|TAF12_uc001bqy.2_Silent_p.S7S|TAF12_uc009vti.2_Silent_p.S7S NM_005644 NP_005635 Q16514 TAF12_HUMAN TAF12 RNA polymerase II, TATA box binding 7 histone H3 acetylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction PCAF complex|STAGA complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|transcription coactivator activity ovary(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Renal(390;0.00121)|Breast(348;0.00502)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123) Colorectal(126;3.21e-08)|COAD - Colon adenocarcinoma(152;1.74e-06)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(1967;0.0109)|BRCA - Breast invasive adenocarcinoma(304;0.0228)|READ - Rectum adenocarcinoma(331;0.0649) TGATTAGGGCTGAGGGGCCAA 0.493000 NKAIN1 79570 broad.mit.edu 37 1 31655387 31655387 + Missense_Mutation SNP C C A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr1:31655387C>A uc010ogd.1 - 5 528 c.522G>T c.(520-522)GAG>GAT p.E174D NKAIN1_uc001bsn.2_Missense_Mutation_p.E130D|NKAIN1_uc010ogc.1_Missense_Mutation_p.E103D NM_024522 NP_078798 Q4KMZ8 NKAI1_HUMAN Na+/K+ transporting ATPase interacting 1 174 Cytoplasmic (Potential). integral to membrane|plasma membrane ovary(1) 1 Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|Breast(348;0.141)|all_neural(195;0.146)|Medulloblastoma(700;0.151) STAD - Stomach adenocarcinoma(196;0.0184)|READ - Rectum adenocarcinoma(331;0.148) AGCTGTCCTCCTCCTCCAGGA 0.632000 RNF19B 127544 broad.mit.edu 37 1 33411121 33411121 + Missense_Mutation SNP T T C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr1:33411121T>C uc010oho.1 - 5 1258 c.1258A>G c.(1258-1260)AGT>GGT p.S420G RNF19B_uc001bwm.3_Missense_Mutation_p.S419G|RNF19B_uc010ohp.1_Missense_Mutation_p.S419G NM_153341 NP_699172 Q6ZMZ0 RN19B_HUMAN ring finger protein 19B isoform a 420 Helical; (Potential). integral to membrane ligase activity|protein binding|zinc ion binding 0 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) TTACCAACACTAACTGCAGCA 0.463000 CSMD2 114784 broad.mit.edu 37 1 34554619 34554619 + Silent SNP C C T rs141030168 TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr1:34554619C>T uc001bxn.1 - 2 272 c.243G>A c.(241-243)TCG>TCA p.S81S CSMD2_uc001bxm.1_Silent_p.S121S NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 81 CUB 1.|Extracellular (Potential). integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CATCAAACACCGACAGGACAT 0.552000 CCDC30 728621 broad.mit.edu 37 1 43119565 43119565 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr1:43119565G>A uc009vwk.1 + 16 2328 c.2218G>A c.(2218-2220)GCA>ACA p.A740T CCDC30_uc001chm.2_Missense_Mutation_p.A438T|CCDC30_uc001chn.2_Missense_Mutation_p.A529T NM_001080850 NP_001074319 Q5VVM6 CCD30_HUMAN coiled-coil domain containing 30 740 0 AGAAGCAATGGCAAGTTCAAA 0.413000 IPO13 9670 broad.mit.edu 37 1 44426892 44426892 + Missense_Mutation SNP T T A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr1:44426892T>A uc001ckx.2 + 14 3097 c.2302T>A c.(2302-2304)TTC>ATC p.F768I NM_014652 NP_055467 O94829 IPO13_HUMAN importin 13 768 protein import into nucleus cytoplasm|nucleus protein binding|protein transporter activity central_nervous_system(1) 1 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0821) TGAGGCCCTCTTCCTGCTCGT 0.592000 CYP4Z1 199974 broad.mit.edu 37 1 47560306 47560306 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr1:47560306C>T uc001cqu.1 + 7 844 c.841C>T c.(841-843)CGC>TGC p.R281C NM_178134 NP_835235 Q86W10 CP4Z1_HUMAN cytochrome P450 4Z1 281 Lumenal (Potential). endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding skin(1) 1 TCAGAAAAGGCGCTGGGATTT 0.318000 MYSM1 114803 broad.mit.edu 37 1 59132821 59132821 + Silent SNP G G T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr1:59132821G>T uc009wab.1 - 16 1943 c.1920C>A c.(1918-1920)GCC>GCA p.A640A MYSM1_uc009waa.1_Silent_p.A46A|MYSM1_uc001czc.2_RNA NM_001085487 NP_001078956 Q5VVJ2 MYSM1_HUMAN Myb-like, SWIRM and MPN domains 1 640 MPN. histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin remodeling complex DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity skin(1) 1 all_cancers(7;9.36e-06) AGGTTTCTGAGGCCTGTGTTT 0.428000 DNAJC6 9829 broad.mit.edu 37 1 65851439 65851439 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr1:65851439G>A uc001dcd.1 + 7 838 c.674G>A c.(673-675)CGC>CAC p.R225H DNAJC6_uc001dcc.1_Missense_Mutation_p.R256H|DNAJC6_uc010opc.1_Missense_Mutation_p.R212H|DNAJC6_uc001dce.1_Missense_Mutation_p.R282H NM_014787 NP_055602 O75061 AUXI_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 6 225 cellular membrane organization|post-Golgi vesicle-mediated transport cytosol heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding large_intestine(1)|lung(1)|ovary(1) 3 AAGCCCTACCGCCCTCACTTC 0.488000 WDR78 79819 broad.mit.edu 37 1 67313177 67313177 + Silent SNP A A G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr1:67313177A>G uc001dcx.2 - 8 1337 c.1281T>C c.(1279-1281)CCT>CCC p.P427P WDR78_uc001dcy.2_Silent_p.P427P|WDR78_uc009waw.2_Silent_p.P173P|WDR78_uc009wax.2_RNA NM_024763 NP_079039 Q5VTH9 WDR78_HUMAN WD repeat domain 78 isoform 1 427 ovary(2) 2 CTTTTAAAACAGGAAGCTGAC 0.204000 ABCA4 24 broad.mit.edu 37 1 94480241 94480241 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr1:94480241G>A uc001dqh.2 - 38 5422 c.5318C>T c.(5317-5319)GCG>GTG p.A1773V ABCA4_uc009wdp.1_Missense_Mutation_p.A41V NM_000350 NP_000341 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A member 4 1773 Helical; (Potential). phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1) 12 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) GGGAATGACCGCCCATCTGTG 0.478000 NTNG1 22854 broad.mit.edu 37 1 107867388 107867388 + Missense_Mutation SNP A A G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr1:107867388A>G uc001dvh.3 + 3 1449 c.731A>G c.(730-732)TAC>TGC p.Y244C NTNG1_uc001dvf.3_Missense_Mutation_p.Y244C|NTNG1_uc010out.1_Missense_Mutation_p.Y244C|NTNG1_uc001dvc.3_Missense_Mutation_p.Y244C|NTNG1_uc001dvd.1_Missense_Mutation_p.Y244C NM_001113226 NP_001106697 Q9Y2I2 NTNG1_HUMAN netrin G1 isoform 1 244 Laminin N-terminal. axonogenesis anchored to plasma membrane protein binding large_intestine(2)|ovary(2)|skin(2) 6 all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243) Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245) GCTTCCCTCTACGGACAGCTG 0.428000 VAV3 10451 broad.mit.edu 37 1 108417623 108417623 + Missense_Mutation SNP T T C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr1:108417623T>C uc001dvk.1 - 2 275 c.221A>G c.(220-222)AAC>AGC p.N74S VAV3_uc010ouw.1_Missense_Mutation_p.N74S|VAV3_uc001dvl.1_5'UTR|VAV3_uc010oux.1_Missense_Mutation_p.N74S NM_006113 NP_006104 Q9UKW4 VAV3_HUMAN vav 3 guanine nucleotide exchange factor isoform 74 CH. angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity ovary(5)|lung(2)|breast(2) 9 all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594) Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204) TGTCCTTATGTTCTTCAAACA 0.393000 AMPD2 271 broad.mit.edu 37 1 110168017 110168017 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr1:110168017C>T uc009wfh.1 + 3 888 c.346C>T c.(346-348)CGC>TGC p.R116C AMPD2_uc009wfg.1_RNA|AMPD2_uc001dyb.1_Missense_Mutation_p.R35C|AMPD2_uc001dyc.1_Missense_Mutation_p.R116C|AMPD2_uc010ovr.1_Intron|AMPD2_uc010ovs.1_5'UTR|AMPD2_uc001dyd.1_5'Flank NM_004037 NP_004028 Q01433 AMPD2_HUMAN adenosine monophosphate deaminase 2 (isoform L) 116 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding ovary(2)|breast(1) 3 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228) GCTCGACCTGCGCACGTCTAT 0.687000 KCND3 3752 broad.mit.edu 37 1 112318756 112318756 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr1:112318756G>A uc001ebu.1 - 8 2391 c.1911C>T c.(1909-1911)GGC>GGT p.G637G KCND3_uc001ebv.1_Silent_p.G618G NM_004980 NP_004971 Q9UK17 KCND3_HUMAN potassium voltage-gated channel, Shal-related 637 Cytoplasmic (Potential). sarcolemma|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|metal ion binding ovary(2)|large_intestine(1) 3 all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05) all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231) TCGTGTTGGGGCCTGGGCTGG 0.582000 PTGFRN 5738 broad.mit.edu 37 1 117509774 117509774 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr1:117509774C>T uc001egv.1 + 6 2018 c.1881C>T c.(1879-1881)GGC>GGT p.G627G NM_020440 NP_065173 Q9P2B2 FPRP_HUMAN prostaglandin F2 receptor negative regulator 627 Ig-like C2-type 5.|Extracellular (Potential). endoplasmic reticulum membrane|Golgi apparatus|integral to membrane protein binding liver(1) 1 Lung SC(450;0.225) all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446) Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248) GGGTGGATGGCGTTGTTTTAG 0.522000 MAN1A2 10905 broad.mit.edu 37 1 117944904 117944904 + Silent SNP T T C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr1:117944904T>C uc001ehd.1 + 2 1120 c.399T>C c.(397-399)ATT>ATC p.I133I MAN1A2_uc009whg.1_Intron NM_006699 NP_006690 O60476 MA1A2_HUMAN mannosidase, alpha, class 1A, member 2 133 Lumenal (Potential). N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane|membrane fraction calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity 0 Lung SC(450;0.225) all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05) Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243) GAGAGGAAATTCGAGCAGAAA 0.398000 THEM4 117145 broad.mit.edu 37 1 151849482 151849482 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr1:151849482G>A uc001ezj.1 - 5 856 c.677C>T c.(676-678)GCG>GTG p.A226V THEM4_uc001ezk.1_RNA NM_053055 NP_444283 Q5T1C6 THEM4_HUMAN thioesterase superfamily member 4 226 insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling cytosol|ruffle membrane 0 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) CTTACTTGTCGCCTCTGAGTA 0.353000 FLG 2312 broad.mit.edu 37 1 152283959 152283959 + Missense_Mutation SNP T T C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr1:152283959T>C uc001ezu.1 - 3 3439 c.3403A>G c.(3403-3405)AGG>GGG p.R1135G uc001ezv.2_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1135 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTGCTGGTCCTGGTCCGCCCA 0.597000 Ichthyosis FLG 2312 broad.mit.edu 37 1 152284170 152284170 + Nonsense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr1:152284170C>T uc001ezu.1 - 3 3228 c.3192G>A c.(3190-3192)TGG>TGA p.W1064* uc001ezv.2_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1064 Filaggrin 6.|Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CACTGGACCCCCAGTGTCCAC 0.572000 Ichthyosis FLG 2312 broad.mit.edu 37 1 152284172 152284172 + Missense_Mutation SNP A A G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr1:152284172A>G uc001ezu.1 - 3 3226 c.3190T>C c.(3190-3192)TGG>CGG p.W1064R uc001ezv.2_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1064 Filaggrin 6.|Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGGACCCCCAGTGTCCACTG 0.572000 Ichthyosis FCRL5 83416 broad.mit.edu 37 1 157497672 157497672 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr1:157497672G>A uc001fqu.2 - 9 1853 c.1695C>T c.(1693-1695)CGC>CGT p.R565R FCRL5_uc009wsm.2_Silent_p.R565R|FCRL5_uc010phv.1_Silent_p.R565R|FCRL5_uc010phw.1_Silent_p.R480R NM_031281 NP_112571 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 565 Extracellular (Potential). integral to membrane|plasma membrane receptor activity p.R565H(1) ovary(3)|breast(2)|central_nervous_system(1) 6 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) TGAGGATGGGGCGAGACACTG 0.458000 OR10Z1 128368 broad.mit.edu 37 1 158576516 158576516 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr1:158576516C>T uc010pio.1 + 1 288 c.288C>T c.(286-288)GGC>GGT p.G96G NM_001004478 NP_001004478 Q8NGY1 O10Z1_HUMAN olfactory receptor, family 10, subfamily Z, 96 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1)|skin(1) 2 all_hematologic(112;0.0378) CCTATGTGGGCTGTGCTGCCC 0.542000 ADAMTS4 9507 broad.mit.edu 37 1 161163166 161163166 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr1:161163166C>T uc001fyt.3 - 7 2176 c.1748G>A c.(1747-1749)CGC>CAC p.R583H NM_005099 NP_005090 O75173 ATS4_HUMAN ADAM metallopeptidase with thrombospondin type 1 583 Cys-rich. proteolysis|skeletal system development extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|protease binding|zinc ion binding ovary(4)|central_nervous_system(1) 5 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) CTGCTCCTCGCGGAAGGTCAG 0.617000 RASAL2 9462 broad.mit.edu 37 1 178411966 178411966 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr1:178411966G>A uc001glr.2 + 6 765 c.640G>A c.(640-642)GAA>AAA p.E214K RASAL2_uc001glq.2_Missense_Mutation_p.E362K NM_004841 NP_004832 Q9UJF2 NGAP_HUMAN RAS protein activator like 2 isoform 1 214 C2. negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity ovary(2)|breast(2)|large_intestine(1) 5 TTTCTGGGGCGAACATTTTGA 0.383000 QSOX1 5768 broad.mit.edu 37 1 180135652 180135652 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr1:180135652G>A uc001gnz.2 + 2 367 c.292G>A c.(292-294)GCC>ACC p.A98T QSOX1_uc001gny.2_Missense_Mutation_p.A98T|QSOX1_uc001goa.2_Missense_Mutation_p.A98T NM_002826 NP_002817 O00391 QSOX1_HUMAN quiescin Q6 sulfhydryl oxidase 1 isoform a 98 Thioredoxin. cell redox homeostasis|protein thiol-disulfide exchange extracellular space|integral to Golgi membrane flavin-linked sulfhydryl oxidase activity ovary(1)|central_nervous_system(1) 2 GTATCTCGCCGCCCTGGACTG 0.597000 PRG4 10216 broad.mit.edu 37 1 186280649 186280649 + Silent SNP A A T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr1:186280649A>T uc001gru.3 + 10 3765 c.3714A>T c.(3712-3714)GGA>GGT p.G1238G PRG4_uc001grt.3_Silent_p.G1197G|PRG4_uc009wyl.2_Silent_p.G1145G|PRG4_uc009wym.2_Silent_p.G1104G|PRG4_uc010poo.1_RNA NM_005807 NP_005798 Q92954 PRG4_HUMAN proteoglycan 4 isoform A 1238 Hemopexin-like 2. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity skin(1) 1 GATTTGGAGGACTAACTGGAC 0.358000 F13B 2165 broad.mit.edu 37 1 197009701 197009701 + Nonsense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr1:197009701G>A uc001gtt.1 - 11 1947 c.1903C>T c.(1903-1905)CAA>TAA p.Q635* NM_001994 NP_001985 P05160 F13B_HUMAN coagulation factor XIII B subunit precursor 635 Sushi 10. blood coagulation extracellular region upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 CTGTCACATTGCATTCTAAGT 0.308000 PPFIA4 8497 broad.mit.edu 37 1 203026010 203026010 + Missense_Mutation SNP G G A rs142427146 by1000genomes TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr1:203026010G>A uc001gyz.2 + 6 1414 c.821G>A c.(820-822)GGC>GAC p.G274D PPFIA4_uc009xaj.2_Missense_Mutation_p.G905D|PPFIA4_uc010pqf.1_Missense_Mutation_p.G487D|PPFIA4_uc001gza.2_Missense_Mutation_p.G274D|PPFIA4_uc001gzb.1_5'UTR NM_015053 NP_055868 O75335 LIPA4_HUMAN protein tyrosine phosphatase, receptor type, f 274 cell communication cell surface|cytoplasm protein binding ovary(4)|skin(1) 5 TCGTCCATTGGCCGCCTGTTT 0.622000 ZC3H11A 9877 broad.mit.edu 37 1 203798733 203798733 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr1:203798733G>A uc001hac.2 + 8 1069 c.453G>A c.(451-453)ACG>ACA p.T151T ZC3H11A_uc001had.2_Silent_p.T151T|ZC3H11A_uc001hae.2_Silent_p.T151T|ZC3H11A_uc001haf.2_Silent_p.T151T|ZC3H11A_uc010pqm.1_Silent_p.T97T|ZC3H11A_uc001hag.1_Silent_p.T151T NM_014827 NP_055642 O75152 ZC11A_HUMAN zinc finger CCCH-type containing 11A 151 nucleic acid binding|protein binding|zinc ion binding lung(1)|central_nervous_system(1) 2 all_cancers(21;0.0904)|all_epithelial(62;0.234) BRCA - Breast invasive adenocarcinoma(75;0.109) CTAGCCCCACGCATCCACCAG 0.433000 CR1 1378 broad.mit.edu 37 1 207737304 207737304 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr1:207737304C>T uc001hfy.2 + 14 2472 c.2332C>T c.(2332-2334)CCC>TCC p.P778S CR1_uc009xcl.1_Intron|CR1_uc001hfx.2_Missense_Mutation_p.P1228S|CR1_uc009xck.1_Intron NM_000573 NP_000564 P17927 CR1_HUMAN complement receptor 1 isoform F precursor 778 Sushi 12.|Extracellular (Potential). complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity ovary(3) 3 CAGCTGTGAGCCCGGCTATGA 0.582000 SERTAD4 56256 broad.mit.edu 37 1 210415495 210415495 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr1:210415495G>A uc001hhy.2 + 4 1063 c.884G>A c.(883-885)GGC>GAC p.G295D SERTAD4_uc009xcw.2_Missense_Mutation_p.G295D NM_019605 NP_062551 Q9NUC0 SRTD4_HUMAN SERTA domain containing 4 295 protein binding ovary(1)|pancreas(1) 2 OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127) AGAGATGGTGGCCCCCTCAGC 0.403000 DTL 51514 broad.mit.edu 37 1 212220516 212220516 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr1:212220516G>A uc009xdc.2 + 4 615 c.301G>A c.(301-303)GTC>ATC p.V101I DTL_uc010ptb.1_Missense_Mutation_p.V59I|DTL_uc001hiz.3_5'UTR NM_016448 NP_057532 Q9NZJ0 DTL_HUMAN denticleless homolog 101 WD 2. DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane protein binding 0 OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102) CTGGAATGCCGTCTTTGACCT 0.353000 RYR2 6262 broad.mit.edu 37 1 237608710 237608710 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr1:237608710C>T uc001hyl.1 + 14 1300 c.1180C>T c.(1180-1182)CAT>TAT p.H394Y NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 394 Cytoplasmic (By similarity).|MIR 5. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GGCTATTATGCATCATGAAGG 0.443000 RYR2 6262 broad.mit.edu 37 1 237804199 237804199 + Missense_Mutation SNP A A G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr1:237804199A>G uc001hyl.1 + 47 7238 c.7118A>G c.(7117-7119)GAC>GGC p.D2373G NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 2373 Cytoplasmic (By similarity).|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CATGAAAGTGACACAGAGGAG 0.428000 OR2T12 127064 broad.mit.edu 37 1 248458331 248458331 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr1:248458331G>A uc010pzj.1 - 1 550 c.550C>T c.(550-552)CGT>TGT p.R184C NM_001004692 NP_001004692 Q8NG77 O2T12_HUMAN olfactory receptor, family 2, subfamily T, 184 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) CAAGCCAAACGCACCAACACG 0.552000 OR2T34 127068 broad.mit.edu 37 1 248737709 248737709 + Missense_Mutation SNP A A C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr1:248737709A>C uc001iep.1 - 1 350 c.350T>G c.(349-351)GTT>GGT p.V117G NM_001001821 NP_001001821 Q8NGX1 O2T34_HUMAN olfactory receptor, family 2, subfamily T, 117 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1) 2 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;0.0265) CAGGAGGAAAACCTCAGCTCC 0.567000 DIP2C 22982 broad.mit.edu 37 10 435950 435950 + Missense_Mutation SNP C C A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr10:435950C>A uc001ifp.2 - 13 1668 c.1578G>T c.(1576-1578)CAG>CAT p.Q526H DIP2C_uc009xhj.1_Missense_Mutation_p.Q222H NM_014974 NP_055789 Q9Y2E4 DIP2C_HUMAN DIP2 disco-interacting protein 2 homolog C 526 nucleus catalytic activity|transcription factor binding breast(4)|ovary(2)|large_intestine(1) 7 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) AGCCACACGCCTGCGTCAGGG 0.607000 WDR37 22884 broad.mit.edu 37 10 1170951 1170951 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr10:1170951G>A uc001igf.1 + 13 1513 c.1340G>A c.(1339-1341)CGG>CAG p.R447Q WDR37_uc009xhm.1_Missense_Mutation_p.R448Q|WDR37_uc009xhn.1_RNA|WDR37_uc001igg.1_RNA NM_014023 NP_054742 Q9Y2I8 WDR37_HUMAN WD repeat domain 37 447 0 all_epithelial(10;0.0449)|Colorectal(49;0.142) Epithelial(11;0.134) CGGCTTCCCCGGAGCAGCCGA 0.507000 ITIH5 80760 broad.mit.edu 37 10 7608006 7608006 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr10:7608006G>A uc001ijq.2 - 13 2593 c.2514C>T c.(2512-2514)TGC>TGT p.C838C ITIH5_uc001ijp.2_Silent_p.C624C NM_030569 NP_085046 Q86UX2 ITIH5_HUMAN inter-alpha trypsin inhibitor heavy chain 838 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(2)|central_nervous_system(2) 4 GCAGTCCGTGGCAGTTGCTGG 0.547000 ITGA8 8516 broad.mit.edu 37 10 15726071 15726071 + Missense_Mutation SNP G G T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr10:15726071G>T uc001ioc.1 - 4 500 c.500C>A c.(499-501)CCA>CAA p.P167Q ITGA8_uc010qcb.1_Missense_Mutation_p.P167Q NM_003638 NP_003629 P53708 ITA8_HUMAN integrin, alpha 8 precursor 167 Extracellular (Potential).|FG-GAP 2. cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity ovary(3)|lung(3) 6 GGTGCCAACTGGGTCCTTTTC 0.418000 CUBN 8029 broad.mit.edu 37 10 16867001 16867001 + Silent SNP G G A rs146137990 TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr10:16867001G>A uc001ioo.2 - 67 10897 c.10845C>T c.(10843-10845)TCC>TCT p.S3615S NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 3615 CUB 27. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) ATCGGAATGCGGATGGACGCC 0.468000 CUBN 8029 broad.mit.edu 37 10 16911739 16911739 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr10:16911739C>T uc001ioo.2 - 59 9402 c.9350G>A c.(9349-9351)CGC>CAC p.R3117H CUBN_uc009xjq.1_RNA|CUBN_uc009xjr.1_Missense_Mutation_p.R473H NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 3117 CUB 23. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) ATTTGGTGGGCGCTTGGAACC 0.498000 ARMC3 219681 broad.mit.edu 37 10 23244766 23244766 + Missense_Mutation SNP T T G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr10:23244766T>G uc001irm.3 + 4 280 c.197T>G c.(196-198)CTT>CGT p.L66R ARMC3_uc010qcv.1_Missense_Mutation_p.L66R|ARMC3_uc010qcw.1_5'UTR|ARMC3_uc001irn.1_5'UTR NM_173081 NP_775104 Q5W041 ARMC3_HUMAN armadillo repeat containing 3 66 ARM 2. binding 0 CTCCTTGAACTTGGAGCTGTG 0.388000 ITGB1 3688 broad.mit.edu 37 10 33209310 33209310 + Missense_Mutation SNP G G T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr10:33209310G>T uc001iws.3 - 10 1268 c.1132C>A c.(1132-1134)CTT>ATT p.L378I ITGB1_uc001iwp.3_Missense_Mutation_p.L378I|ITGB1_uc001iwq.3_Missense_Mutation_p.L378I|ITGB1_uc001iwr.3_Missense_Mutation_p.L378I|ITGB1_uc001iwt.3_Missense_Mutation_p.L378I|ITGB1_uc001iwu.1_Missense_Mutation_p.L378I NM_133376 NP_596867 P05556 ITB1_HUMAN integrin beta 1 isoform 1A precursor 378 Extracellular (Potential).|VWFA. axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma identical protein binding|protein heterodimerization activity|receptor activity upper_aerodigestive_tract(1)|ovary(1) 2 Ovarian(717;1.34e-05)|Breast(68;0.0634) TCTGAGGAAAGGGACTAAAAG 0.353000 NRP1 8829 broad.mit.edu 37 10 33475246 33475246 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr10:33475246G>A uc001iwx.3 - 14 2756 c.2233C>T c.(2233-2235)CCA>TCA p.P745S NRP1_uc001iwv.3_Missense_Mutation_p.P745S|NRP1_uc009xlz.2_Missense_Mutation_p.P739S|NRP1_uc001iww.3_Missense_Mutation_p.P557S|NRP1_uc001iwy.3_Missense_Mutation_p.P738S NM_003873 NP_003864 O14786 NRP1_HUMAN neuropilin 1 isoform a 745 Extracellular (Potential).|MAM. axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation extracellular region|integral to membrane|plasma membrane growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity central_nervous_system(2)|ovary(1)|skin(1) 4 Palifermin(DB00039)|Pegaptanib(DB04895) TACTCCTCTGGCTTCTGGTAG 0.532000 BMS1 9790 broad.mit.edu 37 10 43292065 43292065 + Missense_Mutation SNP A A C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr10:43292065A>C uc001jaj.2 + 10 1731 c.1373A>C c.(1372-1374)AAC>ACC p.N458T NM_014753 NP_055568 Q14692 BMS1_HUMAN BMS1-like, ribosome assembly protein 458 ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity ovary(2)|upper_aerodigestive_tract(1) 3 GGGTTGGAAAACGGCTCTAGT 0.443000 ZNF32 7580 broad.mit.edu 37 10 44139887 44139887 + Nonsense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr10:44139887G>A uc001jbb.2 - 3 622 c.433C>T c.(433-435)CGA>TGA p.R145* uc001jba.2_Intron|ZNF32_uc001jbc.2_Nonsense_Mutation_p.R145* NM_001005368 NP_001005368 P17041 ZNF32_HUMAN zinc finger protein 32 145 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(1) 1 all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157) Lung(62;0.179) AGACTACCTCGTTGACTGAAG 0.483000 GDF2 2658 broad.mit.edu 37 10 48416403 48416403 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr10:48416403C>T uc001jfa.1 - 1 454 c.291G>A c.(289-291)ACG>ACA p.T97T NM_016204 NP_057288 Q9UK05 GDF2_HUMAN growth differentiation factor 2 precursor 97 activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity ovary(2)|skin(1) 3 ACTTATCGGACGTGTACCTGT 0.582000 ANK3 288 broad.mit.edu 37 10 61833987 61833987 + Missense_Mutation SNP C C A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr10:61833987C>A uc001jky.2 - 37 6844 c.6652G>T c.(6652-6654)GCA>TCA p.A2218S ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron NM_020987 NP_066267 Q12955 ANK3_HUMAN ankyrin 3 isoform 1 2218 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2) 19 ATTTGAAATGCTTTAACCTTT 0.433000 LRIT2 340745 broad.mit.edu 37 10 85981787 85981787 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr10:85981787C>T uc001kcy.2 - 3 1550 c.1542G>A c.(1540-1542)CCG>CCA p.P514P LRIT2_uc010qmc.1_Silent_p.P524P NM_001017924 NP_001017924 A6NDA9 LRIT2_HUMAN leucine rich repeat containing 22 precursor 514 integral to membrane ovary(2) 2 CCTTGGACTGCGGGGCTGCAG 0.617000 WAPAL 23063 broad.mit.edu 37 10 88230820 88230820 + Nonsense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr10:88230820G>A uc001kdo.2 - 8 2513 c.2071C>T c.(2071-2073)CGA>TGA p.R691* WAPAL_uc009xsv.2_Nonsense_Mutation_p.R5*|WAPAL_uc001kdn.2_Nonsense_Mutation_p.R728*|WAPAL_uc009xsw.2_Nonsense_Mutation_p.R685* NM_015045 NP_055860 Q7Z5K2 WAPL_HUMAN wings apart-like homolog 691 WAPL. cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin chromatin|cohesin complex|cytoplasm protein binding ovary(1) 1 AGGTGCATTCGAAAACTGGGC 0.418000 CYP2C19 1557 broad.mit.edu 37 10 96484237 96484237 + Translation_Start_Site SNP C C A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr10:96484237C>A uc010qny.1 + 5 765 c.-93C>A c.(-95--91)ACCTG>ACATG CYP2C18_uc001kjv.3_Missense_Mutation_p.L366M|CYP2C18_uc001kjw.3_Missense_Mutation_p.L307M|CYP2C19_uc009xus.1_Intron NM_000769 NP_000760 P33261 CP2CJ_HUMAN cytochrome P450, family 2, subfamily C, exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity ovary(4)|central_nervous_system(1)|skin(1) 6 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) CCCCACCAACCTGCCCCATGC 0.512000 C10orf12 26148 broad.mit.edu 37 10 98742860 98742860 + Missense_Mutation SNP G G T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr10:98742860G>T uc001kmv.2 + 1 1820 c.1713G>T c.(1711-1713)GAG>GAT p.E571D NM_015652 NP_056467 Q8N655 CJ012_HUMAN hypothetical protein LOC26148 571 skin(2) 2 Colorectal(252;0.172) Epithelial(162;6.35e-09)|all cancers(201;3.21e-07) AAACTCTGGAGGACACAGAAA 0.502000 ENTPD7 57089 broad.mit.edu 37 10 101458568 101458568 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr10:101458568C>T uc001kqa.3 + 10 1466 c.1288C>T c.(1288-1290)CGC>TGC p.R430C ENTPD7_uc009xwl.2_Missense_Mutation_p.R432C NM_020354 NP_065087 Q9NQZ7 ENTP7_HUMAN ectonucleoside triphosphate diphosphohydrolase 430 Vesicular (Potential). cytoplasmic vesicle membrane|integral to membrane hydrolase activity ovary(1) 1 Colorectal(252;0.234) Epithelial(162;4.72e-10)|all cancers(201;3.75e-08) GGATGTGTTGCGCATTGGTGG 0.413000 SUFU 51684 broad.mit.edu 37 10 104264032 104264032 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr10:104264032C>T uc001kvy.1 + 1 269 c.123C>T c.(121-123)TGC>TGT p.C41C SUFU_uc001kvw.1_Silent_p.C41C|SUFU_uc001kvx.2_Silent_p.C41C|ACTR1A_uc001kvv.2_5'Flank|ACTR1A_uc010qqn.1_5'Flank|ACTR1A_uc010qqo.1_5'Flank NM_016169 NP_057253 Q9UMX1 SUFU_HUMAN suppressor of fused 41 negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development cytoplasm|nucleus identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding central_nervous_system(4)|skin(2)|breast(1) 7 Colorectal(252;0.207) Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242) ACGGAGAGTGCCGCCGCCTTT 0.483000 D|F|S medulloblastoma medulloblastoma Medulloblastoma_associated_with_Germline_SUFU_Mutation WDR11 55717 broad.mit.edu 37 10 122625206 122625206 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr10:122625206G>A uc010qtf.1 + 7 1182 c.944G>A c.(943-945)CGT>CAT p.R315H WDR11_uc010qte.1_Intron|WDR11_uc001lfd.1_Translation_Start_Site NM_018117 NP_060587 Q9BZH6 WDR11_HUMAN bromodomain and WD repeat domain containing 2 315 integral to membrane 0 ATAACTTTACGTGTTCGAAGA 0.274000 HMX2 3167 broad.mit.edu 37 10 124908090 124908090 + Missense_Mutation SNP T T G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr10:124908090T>G uc001lhc.1 + 1 453 c.196T>G c.(196-198)TTC>GTC p.F66V NM_005519 NP_005510 A2RU54 HMX2_HUMAN H6 family homeobox 2 66 cell differentiation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222) Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141) GCCCGCCTGCTTCTGCCCAGA 0.697000 BUB3 9184 broad.mit.edu 37 10 124921806 124921806 + Missense_Mutation SNP A A C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr10:124921806A>C uc001lhe.2 + 6 873 c.631A>C c.(631-633)AGC>CGC p.S211R BUB3_uc009yah.2_Missense_Mutation_p.S163R|BUB3_uc001lhf.3_Missense_Mutation_p.S211R|BUB3_uc001lhd.2_Missense_Mutation_p.S211R|BUB3_uc010qud.1_Missense_Mutation_p.S131R NM_004725 NP_004716 O43684 BUB3_HUMAN budding uninhibited by benzimidazoles 3 isoform 211 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|attachment of spindle microtubules to kinetochore|cell division|meiosis|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle condensed chromosome kinetochore|cytosol|nucleus protein binding ovary(1) 1 all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163) TTTGGACCCAAGCCCTGAGGT 0.403000 B4GALNT4 338707 broad.mit.edu 37 11 373264 373264 + Silent SNP T T C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr11:373264T>C uc001lpb.2 + 6 618 c.609T>C c.(607-609)GCT>GCC p.A203A NM_178537 NP_848632 Q76KP1 B4GN4_HUMAN beta 203 Lumenal (Potential). Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity pancreas(1) 1 all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) GCCCTGCTGCTGCCCAGCTTG 0.632000 MUC5B 727897 broad.mit.edu 37 11 1267503 1267503 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr11:1267503G>A uc009ycr.1 + 49 11268 c.11142G>A c.(11140-11142)ACG>ACA p.T3714T MUC5B_uc001ltb.2_Silent_p.T3134T NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 3131 7 X Cys-rich subdomain repeats.|Thr-rich.|17 X approximate tandem repeats, Ser/Thr- rich. Missing (in Ref. 6; AAB61398). 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) CTCCGGGGACGACCTGGATCC 0.657000 TRPM5 29850 broad.mit.edu 37 11 2428999 2428999 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr11:2428999C>T uc001lwm.3 - 19 2935 c.2926G>A c.(2926-2928)GCC>ACC p.A976T TRPM5_uc010qxl.1_Missense_Mutation_p.A976T|TRPM5_uc009ydn.2_Missense_Mutation_p.A978T NM_014555 NP_055370 Q9NZQ8 TRPM5_HUMAN transient receptor potential cation channel, 976 Cytoplasmic (Potential). integral to membrane|plasma membrane receptor activity|voltage-gated ion channel activity ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311) BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191) CTGAACATGGCGATGAGCAGG 0.602000 OR52I2 143502 broad.mit.edu 37 11 4608096 4608096 + Silent SNP T T C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr11:4608096T>C uc010qyh.1 + 1 54 c.54T>C c.(52-54)ATT>ATC p.I18I NM_001005170 NP_001005170 Q8NH67 O52I2_HUMAN olfactory receptor, family 52, subfamily I, 18 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) ATTTGTGCATTAACAGGAAAA 0.448000 OR51F2 119694 broad.mit.edu 37 11 4843262 4843262 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr11:4843262C>T uc010qyn.1 + 1 647 c.647C>T c.(646-648)GCG>GTG p.A216V NM_001004753 NP_001004753 Q8NH61 O51F2_HUMAN olfactory receptor, family 51, subfamily F, 216 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) GGTCTGTTTGCGCTTTTGTCC 0.478000 UBQLN3 50613 broad.mit.edu 37 11 5529610 5529610 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr11:5529610G>A uc001may.1 - 2 1265 c.1179C>T c.(1177-1179)GGC>GGT p.G393G HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc001maq.1_5'Flank NM_017481 NP_059509 Q9H347 UBQL3_HUMAN ubiquilin 3 393 ovary(3) 3 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGAGAGGCTGGCCTGACCCAG 0.577000 OR56A4 120793 broad.mit.edu 37 11 6023985 6023985 + Missense_Mutation SNP C C T rs146498967 TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr11:6023985C>T uc010qzv.1 - 1 394 c.394G>A c.(394-396)GTC>ATC p.V132I NM_001005179 NP_001005179 Q8NGH8 O56A4_HUMAN olfactory receptor, family 56, subfamily A, 80 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|skin(1) 2 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TTGGGGATGACGGTGAGGCAG 0.567000 OR2AG1 144125 broad.mit.edu 37 11 6806831 6806831 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr11:6806831C>T uc001mer.1 + 1 563 c.563C>T c.(562-564)GCC>GTC p.A188V NM_001004489 NP_001004489 Q9H205 O2AG1_HUMAN olfactory receptor, family 2, subfamily AG, 188 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 Medulloblastoma(188;0.00776)|all_neural(188;0.0652) Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) CTGAAGGTGGCCTGTGCTGAT 0.488000 ZNF214 7761 broad.mit.edu 37 11 7021534 7021534 + Silent SNP A A G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr11:7021534A>G uc001mfa.2 - 3 1683 c.1380T>C c.(1378-1380)CAT>CAC p.H460H ZNF214_uc010ray.1_Silent_p.H460H|ZNF214_uc009yfh.1_Silent_p.H460H NM_013249 NP_037381 Q9UL59 ZN214_HUMAN zinc finger protein 214 460 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081) GGACTCTCTGATGAATGCGAA 0.418000 ARNTL 406 broad.mit.edu 37 11 13393740 13393740 + Missense_Mutation SNP G G T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr11:13393740G>T uc001mkr.2 + 13 1259 c.851G>T c.(850-852)AGC>ATC p.S284I ARNTL_uc001mko.2_Missense_Mutation_p.S240I|ARNTL_uc001mkp.2_Missense_Mutation_p.S283I|ARNTL_uc001mkq.2_Missense_Mutation_p.S283I|ARNTL_uc001mks.2_Missense_Mutation_p.S241I|ARNTL_uc001mkt.2_Missense_Mutation_p.S284I|ARNTL_uc001mku.2_RNA|ARNTL_uc009ygm.1_Intron|ARNTL_uc001mkv.1_Missense_Mutation_p.S241I|ARNTL_uc001mkw.2_Missense_Mutation_p.S241I|ARNTL_uc001mkx.2_Missense_Mutation_p.S282I NM_001178 NP_001169 O00327 BMAL1_HUMAN aryl hydrocarbon receptor nuclear 284 circadian rhythm|positive regulation of transcription from RNA polymerase II promoter transcription factor complex aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity 0 Epithelial(150;0.0243) ACAATCCACAGCACAGGCTAT 0.512000 PIK3C2A 5286 broad.mit.edu 37 11 17190440 17190440 + Silent SNP A A G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr11:17190440A>G uc001mmq.3 - 1 915 c.849T>C c.(847-849)AAT>AAC p.N283N PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.1_Intron|PIK3C2A_uc001mmr.3_RNA|PIK3C2A_uc010rcx.1_Silent_p.N283N|PIK3C2A_uc009ygv.1_Silent_p.N283N NM_002645 NP_002636 O00443 P3C2A_HUMAN phosphoinositide-3-kinase, class 2 alpha 283 cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity lung(4)|central_nervous_system(4)|stomach(1)|ovary(1) 10 Phosphatidylserine(DB00144) ATACCTCCACATTATCCACCT 0.393000 E2F8 79733 broad.mit.edu 37 11 19251862 19251862 + Missense_Mutation SNP C C A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr11:19251862C>A uc001mpm.2 - 9 1806 c.1284G>T c.(1282-1284)CAG>CAT p.Q428H E2F8_uc009yhv.2_Intron|E2F8_uc001mpn.3_Missense_Mutation_p.Q428H NM_024680 NP_078956 A0AVK6 E2F8_HUMAN E2F family member 8 428 cell cycle transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity skin(1) 1 GTGCAGAATTCTGAGAACTCT 0.418000 NELL1 4745 broad.mit.edu 37 11 20907060 20907060 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr11:20907060C>T uc001mqe.2 + 5 730 c.577C>T c.(577-579)CGC>TGC p.R193C NELL1_uc001mqf.2_Missense_Mutation_p.R193C|NELL1_uc009yid.2_Missense_Mutation_p.R221C|NELL1_uc010rdo.1_Missense_Mutation_p.R136C|NELL1_uc010rdp.1_Intron NM_006157 NP_006148 Q92832 NELL1_HUMAN nel-like 1 isoform 1 precursor 193 TSP N-terminal. cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity ovary(2)|large_intestine(1) 3 GCTTGGCCAGCGCAACCAAAA 0.398000 SLC17A6 57084 broad.mit.edu 37 11 22387116 22387116 + Missense_Mutation SNP A A G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr11:22387116A>G uc001mqk.2 + 7 1185 c.772A>G c.(772-774)ATG>GTG p.M258V NM_020346 NP_065079 Q9P2U8 VGLU2_HUMAN solute carrier family 17 (sodium-dependent 258 Helical; (Potential). sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity ovary(3)|breast(1) 4 GGTCTGGTACATGTTTTGGCT 0.403000 NAT10 55226 broad.mit.edu 37 11 34133754 34133754 + Missense_Mutation SNP G G C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr11:34133754G>C uc001mvk.2 + 4 600 c.356G>C c.(355-357)GGC>GCC p.G119A NAT10_uc010ren.1_Missense_Mutation_p.G47A NM_024662 NP_078938 Q9H0A0 NAT10_HUMAN N-acetyltransferase 10 isoform a 119 nucleolus ATP binding|N-acetyltransferase activity|protein binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231) AATACCTTCGGCATGTGTGTG 0.512000 TRAF6 7189 broad.mit.edu 37 11 36520142 36520142 + Missense_Mutation SNP A A T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr11:36520142A>T uc001mwr.1 - 4 685 c.345T>A c.(343-345)AAT>AAA p.N115K TRAF6_uc001mws.1_Missense_Mutation_p.N115K NM_145803 NP_665802 Q9Y4K3 TRAF6_HUMAN TNF receptor-associated factor 6 115 Interaction with TAX1BP1. activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 all_lung(20;0.211) all_hematologic(20;0.107) GAAATAGTTGATTTTCCAGCA 0.353000 MED19 219541 broad.mit.edu 37 11 57472562 57472562 + Silent SNP A A G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr11:57472562A>G uc001nla.1 - 2 379 c.357T>C c.(355-357)CCT>CCC p.P119P MED19_uc001nlb.2_Silent_p.P119P NM_153450 NP_703151 A0JLT2 MED19_HUMAN mediator complex subunit 19 119 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex p.P119L(1) ovary(2) 2 CATGGGAACCAGGCAGATCAA 0.493000 TMEM132A 54972 broad.mit.edu 37 11 60697990 60697990 + Missense_Mutation SNP T T C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr11:60697990T>C uc001nqj.2 + 5 1068 c.875T>C c.(874-876)GTG>GCG p.V292A TMEM132A_uc001nqi.2_Missense_Mutation_p.V292A|TMEM132A_uc001nqk.2_Missense_Mutation_p.V305A|TMEM132A_uc001nql.1_Missense_Mutation_p.V305A NM_178031 NP_821174 Q24JP5 T132A_HUMAN transmembrane protein 132A isoform b 292 Extracellular (Potential). endoplasmic reticulum membrane|Golgi membrane|integral to membrane skin(1) 1 AGGATCAAGGTGAAGAAGGGG 0.592000 DDB1 1642 broad.mit.edu 37 11 61071397 61071397 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr11:61071397G>A uc001nrc.3 - 22 2998 c.2772C>T c.(2770-2772)GGC>GGT p.G924G DDB1_uc010rle.1_Silent_p.G235G|DDB1_uc010rlf.1_Silent_p.G924G NM_001923 NP_001914 Q16531 DDB1_HUMAN damage-specific DNA binding protein 1 924 Interaction with CDT1 and CUL4A. cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm damaged DNA binding|protein binding ovary(2)|lung(1)|central_nervous_system(1) 4 GCATAAGGTCGCCCACCAGGA 0.542000 NER DAK 26007 broad.mit.edu 37 11 61106764 61106764 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr11:61106764C>T uc001nre.2 + 5 600 c.343C>T c.(343-345)CGG>TGG p.R115W DDB1_uc010rlf.1_Intron|DAK_uc009ynm.1_Missense_Mutation_p.R45W NM_015533 NP_056348 Q3LXA3 DHAK_HUMAN dihydroxyacetone kinase 2 115 DhaK. glycerol metabolic process cytosol ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding 0 CACTGGGGATCGGCTCAACTT 0.642000 FLRT1 23769 broad.mit.edu 37 11 63884259 63884259 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr11:63884259G>A uc001nyi.1 + 2 861 c.520G>A c.(520-522)GCC>ACC p.A174T MACROD1_uc001nyh.2_Intron NM_013280 NP_037412 Q9NZU1 FLRT1_HUMAN fibronectin leucine rich transmembrane protein 146 Extracellular (Potential). cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity 0 GGACGCCTTCGCCGACAGCAA 0.642000 NRXN2 9379 broad.mit.edu 37 11 64428414 64428414 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr11:64428414G>A uc001oar.2 - 11 2435 c.1996C>T c.(1996-1998)CGT>TGT p.R666C NRXN2_uc001oas.2_Missense_Mutation_p.R635C|NRXN2_uc001oaq.2_Missense_Mutation_p.R333C NM_015080 NP_055895 P58401 NRX2B_HUMAN neurexin 2 isoform alpha-1 precursor Error:Variant_position_missing_in_P58401_after_alignment cell adhesion integral to membrane upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1) 10 TCTCGGCTACGCCCATCTATG 0.692000 TIGD3 220359 broad.mit.edu 37 11 65124144 65124144 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr11:65124144G>A uc001odo.3 + 2 1028 c.865G>A c.(865-867)GCC>ACC p.A289T NM_145719 NP_663771 Q6B0B8 TIGD3_HUMAN tigger transposable element derived 3 289 DDE. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding 0 GCCTCTGGCCGCCTCTAGCAC 0.652000 EFEMP2 30008 broad.mit.edu 37 11 65637592 65637592 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr11:65637592C>T uc001ofy.3 - 6 801 c.607G>A c.(607-609)GAT>AAT p.D203N EFEMP2_uc001ofz.2_RNA|EFEMP2_uc001oga.2_Missense_Mutation_p.D203N NM_016938 NP_058634 O95967 FBLN4_HUMAN EGF-containing fibulin-like extracellular matrix 203 EGF-like 4; calcium-binding (Potential). blood coagulation basement membrane|membrane calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity ovary(1) 1 READ - Rectum adenocarcinoma(159;0.169) CCAGCCTCACCAACACAGGAG 0.682000 CTSF 8722 broad.mit.edu 37 11 66332220 66332220 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr11:66332220C>T uc001oip.2 - 10 1313 c.1223G>A c.(1222-1224)GGC>GAC p.G408D NM_003793 NP_003784 Q9UBX1 CATF_HUMAN cathepsin F precursor 408 proteolysis lysosome cysteine-type endopeptidase activity 0 CACCTGCATGCCAAAGGCATT 0.632000 RCE1 9986 broad.mit.edu 37 11 66613485 66613485 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr11:66613485G>A uc001ojk.1 + 8 953 c.909G>A c.(907-909)ACG>ACA p.T303T RCE1_uc001ojl.1_Silent_p.T199T NM_005133 NP_005124 Q9Y256 FACE2_HUMAN prenyl protein peptidase RCE1 isoform 1 303 Helical; (Potential). proteolysis endoplasmic reticulum membrane|integral to plasma membrane metalloendopeptidase activity ovary(1)|breast(1) 2 AGCCCCTCACGGACCCCAAGC 0.647000 RHOD 29984 broad.mit.edu 37 11 66834258 66834258 + Silent SNP C C T rs144971798 by1000genomes TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr11:66834258C>T uc001ojv.2 + 3 355 c.270C>T c.(268-270)AGC>AGT p.S90S NM_014578 NP_055393 O00212 RHOD_HUMAN ras homolog D precursor 90 regulation of small GTPase mediated signal transduction|Rho protein signal transduction cytosol|plasma membrane GTP binding|GTPase activity 0 CTGACGCCAGCGTCCTGCTGC 0.612000 RHOD 29984 broad.mit.edu 37 11 66838974 66838974 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr11:66838974C>T uc001ojv.2 + 5 619 c.534C>T c.(532-534)AAC>AAT p.N178N NM_014578 NP_055393 O00212 RHOD_HUMAN ras homolog D precursor 178 regulation of small GTPase mediated signal transduction|Rho protein signal transduction cytosol|plasma membrane GTP binding|GTPase activity 0 TCCATGACAACGTCCACGCCG 0.677000 CARNS1 57571 broad.mit.edu 37 11 67187277 67187277 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr11:67187277C>T uc009yrp.2 + 6 1164 c.712C>T c.(712-714)CGG>TGG p.R238W PPP1CA_uc001okx.1_Intron|CARNS1_uc010rpr.1_Missense_Mutation_p.R361W|CARNS1_uc001olc.3_Missense_Mutation_p.R377W NM_020811 NP_065862 A5YM72 CRNS1_HUMAN ATP-grasp domain containing 1 238 carnosine biosynthetic process ATP binding|carnosine synthase activity|metal ion binding 0 TGTGGTGTGTCGGACACAGGG 0.652000 PPFIA1 8500 broad.mit.edu 37 11 70189942 70189942 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr11:70189942G>A uc001opo.2 + 15 2073 c.1875G>A c.(1873-1875)GCG>GCA p.A625A PPFIA1_uc001opn.1_Silent_p.A625A|PPFIA1_uc001opp.2_RNA|PPFIA1_uc001opq.1_RNA NM_003626 NP_003617 Q13136 LIPA1_HUMAN PTPRF interacting protein alpha 1 isoform b 625 Potential. cell-matrix adhesion cytoplasm protein binding|signal transducer activity lung(2)|ovary(1) 3 BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) AGGCCGACGCGCACACACTAG 0.562000 FOLH1B 219595 broad.mit.edu 37 11 89424639 89424639 + Missense_Mutation SNP A A C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr11:89424639A>C uc001pda.2 + 12 1515 c.989A>C c.(988-990)AAT>ACT p.N330T NM_153696 NP_710163 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B 330 proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity ovary(3)|skin(2)|central_nervous_system(1) 6 GCAGTAAAAAATTTTACAGAA 0.274000 KIAA1826 84437 broad.mit.edu 37 11 105880396 105880396 + Nonsense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr11:105880396G>A uc001piy.2 - 3 1077 c.904C>T c.(904-906)CGA>TGA p.R302* KIAA1826_uc001piz.2_Nonsense_Mutation_p.R302* NM_032424 NP_115800 Q8NCY6 K1826_HUMAN hypothetical protein LOC84437 302 Potential. nucleus breast(1) 1 Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321) BRCA - Breast invasive adenocarcinoma(274;5.56e-05)|Epithelial(105;0.00432)|all cancers(92;0.0309) AAGCGTTCTCGCTCAAGTTTT 0.413000 ATM 472 broad.mit.edu 37 11 108164110 108164110 + Missense_Mutation SNP T T C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr11:108164110T>C uc001pkb.1 + 31 5067 c.4682T>C c.(4681-4683)CTT>CCT p.L1561P ATM_uc009yxr.1_Missense_Mutation_p.L1561P|ATM_uc001pke.1_Missense_Mutation_p.L213P|ATM_uc001pkf.2_Intron NM_000051 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated isoform 1 1561 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) ACGATTAAGCTTTTAGATCCT 0.289000 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) PHLDB1 23187 broad.mit.edu 37 11 118516454 118516454 + Missense_Mutation SNP G G A rs137998974 TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr11:118516454G>A uc001ptr.1 + 18 3771 c.3418G>A c.(3418-3420)GCG>ACG p.A1140T PHLDB1_uc001pts.2_Missense_Mutation_p.A1140T|PHLDB1_uc001ptt.2_Missense_Mutation_p.A1093T|PHLDB1_uc001ptu.1_RNA|PHLDB1_uc001ptv.1_Missense_Mutation_p.A955T|PHLDB1_uc001ptw.1_Missense_Mutation_p.A495T|PHLDB1_uc009zai.1_Missense_Mutation_p.A176T|PHLDB1_uc001ptx.1_Missense_Mutation_p.A176T|PHLDB1_uc010ryi.1_3'UTR NM_015157 NP_055972 Q86UU1 PHLB1_HUMAN pleckstrin homology-like domain, family B, 1140 0 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.4e-05) TCTCCCCAGCGCGAGTGGTCT 0.597000 POU2F3 25833 broad.mit.edu 37 11 120176450 120176450 + Missense_Mutation SNP T T C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr11:120176450T>C uc001pxc.2 + 8 827 c.725T>C c.(724-726)ATG>ACG p.M242T POU2F3_uc010rzk.1_Missense_Mutation_p.M196T|POU2F3_uc010rzl.1_Missense_Mutation_p.M172T|POU2F3_uc001pxe.1_Missense_Mutation_p.M27T NM_014352 NP_055167 Q9UKI9 PO2F3_HUMAN POU transcription factor 242 POU-specific. negative regulation by host of viral transcription cytoplasm sequence-specific DNA binding ovary(1)|skin(1) 2 Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;6.85e-06) TTCAAGAACATGTGCAAGCTC 0.582000 GRIK4 2900 broad.mit.edu 37 11 120833350 120833350 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr11:120833350C>T uc001pxn.2 + 18 2513 c.2226C>T c.(2224-2226)GGC>GGT p.G742G GRIK4_uc009zav.1_Silent_p.G742G|GRIK4_uc009zaw.1_Silent_p.G742G|GRIK4_uc009zax.1_Silent_p.G742G NM_014619 NP_055434 Q16099 GRIK4_HUMAN glutamate receptor KA1 precursor 742 Extracellular (Potential). glutamate signaling pathway|synaptic transmission cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity ovary(2)|central_nervous_system(1) 3 Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21) BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116) L-Glutamic Acid(DB00142) AGATTGGGGGCCTGCTGGACA 0.557000 TECTA 7007 broad.mit.edu 37 11 120976660 120976660 + Missense_Mutation SNP A A G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr11:120976660A>G uc010rzo.1 + 2 185 c.185A>G c.(184-186)TAC>TGC p.Y62C NM_005422 NP_005413 O75443 TECTA_HUMAN tectorin alpha precursor 62 cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix breast(6)|ovary(2)|skin(2) 10 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) GGCGTTCCTTACCGCACTGTC 0.428000 SORL1 6653 broad.mit.edu 37 11 121448108 121448108 + Silent SNP C C T rs138407235 TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr11:121448108C>T uc001pxx.2 + 25 3659 c.3579C>T c.(3577-3579)ACC>ACT p.T1193T SORL1_uc010rzp.1_Silent_p.T39T NM_003105 NP_003096 Q92673 SORL_HUMAN sortilin-related receptor containing LDLR class 1193 Extracellular (Potential).|LDL-receptor class A 3. cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1) 15 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) CCAACTGTACCGGTCAGTACT 0.502000 OR10G8 219869 broad.mit.edu 37 11 123900532 123900532 + Missense_Mutation SNP A A G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr11:123900532A>G uc001pzp.1 + 1 203 c.203A>G c.(202-204)GAC>GGC p.D68G NM_001004464 NP_001004464 Q8NGN5 O10G8_HUMAN olfactory receptor, family 10, subfamily G, 68 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) TCGTTCATTGACATGTGGTTC 0.532000 KIRREL3 84623 broad.mit.edu 37 11 126294613 126294613 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr11:126294613G>A uc001qea.2 - 17 2560 c.2199C>T c.(2197-2199)AGC>AGT p.S733S KIRREL3_uc001qeb.2_Silent_p.S721S|ST3GAL4_uc001qdx.1_Intron NM_032531 NP_115920 Q8IZU9 KIRR3_HUMAN kin of IRRE like 3 isoform 1 733 Cytoplasmic (Potential).|Ser-rich. hemopoiesis extracellular region|integral to membrane|plasma membrane protein binding ovary(3) 3 all_hematologic(175;0.145) Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12) GCTTGCCGCTGCTGCTGACGC 0.612000 ACAD8 27034 broad.mit.edu 37 11 134131749 134131749 + Missense_Mutation SNP A A G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr11:134131749A>G uc001qhk.2 + 9 1118 c.1057A>G c.(1057-1059)ATG>GTG p.M353V ACAD8_uc010scp.1_RNA|ACAD8_uc010scq.1_Missense_Mutation_p.M276V|ACAD8_uc001qhl.2_Missense_Mutation_p.M226V NM_014384 NP_055199 Q9UKU7 ACAD8_HUMAN acyl-Coenzyme A dehydrogenase family, member 8 353 branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial matrix acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding 0 all_hematologic(175;0.127) all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559) Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21) CTTGTGCTCCATGGCCAAGCT 0.587000 WNK1 65125 broad.mit.edu 37 12 1005427 1005427 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr12:1005427C>T uc001qio.3 + 24 6281 c.5774C>T c.(5773-5775)GCC>GTC p.A1925V WNK1_uc001qip.3_Missense_Mutation_p.A1677V|WNK1_uc001qir.3_Missense_Mutation_p.A1098V NM_018979 NP_061852 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 1925 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1) 23 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) CCAGAGAGTGCCCACAAAACT 0.498000 NTF3 4908 broad.mit.edu 37 12 5603459 5603459 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr12:5603459C>T uc001qnl.3 + 1 162 c.79C>T c.(79-81)CCA>TCA p.P27S NTF3_uc001qnk.3_Missense_Mutation_p.P40S NM_002527 NP_002518 P20783 NTF3_HUMAN neurotrophin 3 isoform 2 preproprotein 27 signal transduction extracellular region growth factor activity|neurotrophin receptor binding pancreas(1) 1 AAGGAGTTTGCCAGAAGACTC 0.413000 NTF3 4908 broad.mit.edu 37 12 5603725 5603725 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr12:5603725G>A uc001qnl.3 + 1 428 c.345G>A c.(343-345)CCG>CCA p.P115P NTF3_uc001qnk.3_Silent_p.P128P NM_002527 NP_002518 P20783 NTF3_HUMAN neurotrophin 3 isoform 2 preproprotein 115 signal transduction extracellular region growth factor activity|neurotrophin receptor binding pancreas(1) 1 TGGAGCCCCCGCCCTTGTATC 0.612000 CD4 920 broad.mit.edu 37 12 6925311 6925311 + Missense_Mutation SNP A A T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr12:6925311A>T uc001qqv.1 + 6 942 c.697A>T c.(697-699)ACG>TCG p.T233S CD4_uc009zez.1_3'UTR|CD4_uc009zfa.1_RNA|CD4_uc009zfb.1_RNA|CD4_uc010sfj.1_5'UTR|CD4_uc009zfc.1_Missense_Mutation_p.T54S|CD4_uc010sfk.1_5'UTR|CD4_uc010sfl.1_5'UTR|CD4_uc010sfm.1_5'UTR NM_000616 NP_000607 P01730 CD4_HUMAN CD4 antigen precursor 233 Extracellular (Potential).|Ig-like C2-type 2. cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding 0 Myeloproliferative disorder(1001;0.0122) TGAAAAGCTGACGGGCAGTGG 0.542000 CD163L1 283316 broad.mit.edu 37 12 7527225 7527225 + Silent SNP A A G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr12:7527225A>G uc001qsy.2 - 13 3248 c.3222T>C c.(3220-3222)TGT>TGC p.C1074C CD163L1_uc010sge.1_Silent_p.C1084C NM_174941 NP_777601 Q9NR16 C163B_HUMAN scavenger receptor cysteine-rich type 1 1074 SRCR 10.|Extracellular (Potential). extracellular region|integral to membrane|plasma membrane scavenger receptor activity ovary(8)|skin(2)|central_nervous_system(1) 11 CCAGCTTTTGACACACCACGT 0.607000 OREG0021653 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) CD163L1 283316 broad.mit.edu 37 12 7531592 7531592 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr12:7531592C>T uc001qsy.2 - 9 2379 c.2353G>A c.(2353-2355)GCA>ACA p.A785T CD163L1_uc010sge.1_Missense_Mutation_p.A795T NM_174941 NP_777601 Q9NR16 C163B_HUMAN scavenger receptor cysteine-rich type 1 785 SRCR 7.|Extracellular (Potential). extracellular region|integral to membrane|plasma membrane scavenger receptor activity ovary(8)|skin(2)|central_nervous_system(1) 11 ATCAAACTTGCTTCCATATTT 0.318000 SLC2A14 144195 broad.mit.edu 37 12 7981304 7981304 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr12:7981304C>T uc001qtk.2 - 11 1534 c.741G>A c.(739-741)ACG>ACA p.T247T SLC2A14_uc001qtl.2_Silent_p.T224T|SLC2A14_uc001qtm.2_Silent_p.T224T|SLC2A14_uc010sgg.1_Silent_p.T138T|SLC2A14_uc001qtn.2_Silent_p.T247T|SLC2A14_uc001qto.2_Intron|SLC2A14_uc010sgh.1_Silent_p.T262T NM_153449 NP_703150 Q8TDB8 GTR14_HUMAN glucose transporter 14 247 Cytoplasmic (Potential). cell differentiation|multicellular organismal development|spermatogenesis integral to membrane glucose transmembrane transporter activity ovary(1) 1 Kidney(36;0.0883) ACTCACTCCGCGTAGCATTCT 0.423000 GOLT1B 51026 broad.mit.edu 37 12 21665273 21665273 + Missense_Mutation SNP T T C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr12:21665273T>C uc001rez.2 + 4 500 c.341T>C c.(340-342)GTC>GCC p.V114A GOLT1B_uc009zis.2_RNA|GOLT1B_uc009zit.2_RNA|GOLT1B_uc009ziu.2_RNA NM_016072 NP_057156 Q9Y3E0 GOT1B_HUMAN golgi transport 1 homolog B 114 Cytoplasmic (Potential). positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport|vesicle-mediated transport endoplasmic reticulum|Golgi membrane|integral to membrane signal transducer activity 0 AGAGTGCCAGTCCTTGGATCC 0.338000 ABCC9 10060 broad.mit.edu 37 12 22035726 22035726 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr12:22035726C>T uc001rfi.1 - 14 2013 c.1993G>A c.(1993-1995)GCA>ACA p.A665T ABCC9_uc001rfh.2_Missense_Mutation_p.A665T|ABCC9_uc001rfj.1_Intron NM_005691 NP_005682 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C, member 9 665 Cytoplasmic (Potential). defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity ovary(4)|skin(2) 6 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) TCTGTTTCTGCGGGACGTAGA 0.378000 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C A rs121913530 TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr12:25398285C>A uc001rgp.1 - 2 215 c.34G>T c.(34-36)GGT>TGT p.G12C KRAS_uc001rgq.1_Missense_Mutation_p.G12C|KRAS_uc001rgr.2_RNA NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12G(6)|p.G12N(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1) large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1) 21052 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CCTACGCCACCAGCTCCAACT 0.348000 G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12C(CALU1_LUNG)|G12C(NCIH2030_LUNG)|G12C(LU99_LUNG)|G12C(NCIH1792_LUNG)|G12R(KP2_PANCREAS)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(NCIH2122_LUNG)|G12C(NCIH358_LUNG)|G12R(PSN1_PANCREAS)|G12C(KYSE410_OESOPHAGUS)|G12S(A549_LUNG)|G12R(HUPT3_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12C(HCC44_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(SW1463_LARGE_INTESTINE)|G12C(NCIH23_LUNG)|G12C(LU65_LUNG)|G12C(NCIH1373_LUNG)|G12C(MIAPACA2_PANCREAS)|G12R(HS274T_BREAST)|G12S(LS123_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(OV56_OVARY)|G12C(IALM_LUNG) 119 Mis pancreatic|colorectal|lung|thyroid|AML|others Cardiofaciocutaneous_syndrome|Noonan_syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) ITPR2 3709 broad.mit.edu 37 12 26784907 26784907 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr12:26784907G>A uc001rhg.2 - 22 3243 c.2826C>T c.(2824-2826)AGC>AGT p.S942S NM_002223 NP_002214 Q14571 ITPR2_HUMAN inositol 1,4,5-triphosphate receptor, type 2 942 Cytoplasmic (Potential). activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 14 Colorectal(261;0.0847) CATCCGGCACGCTCATGGGGA 0.537000 ITPR2 3709 broad.mit.edu 37 12 26839488 26839488 + Silent SNP C C T rs117349764 by1000genomes TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr12:26839488C>T uc001rhg.2 - 11 1491 c.1074G>A c.(1072-1074)CCG>CCA p.P358P NM_002223 NP_002214 Q14571 ITPR2_HUMAN inositol 1,4,5-triphosphate receptor, type 2 358 Cytoplasmic (Potential).|MIR 4. activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 14 Colorectal(261;0.0847) CATTGCCATGCGGGACTGAAA 0.423000 MED21 9412 broad.mit.edu 37 12 27181274 27181274 + Missense_Mutation SNP G G T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr12:27181274G>T uc001rhp.1 + 4 345 c.315G>T c.(313-315)GAG>GAT p.E105D MED21_uc009zjh.1_RNA NM_004264 NP_004255 Q13503 MED21_HUMAN mediator complex subunit 21 105 positive regulation of transcription from RNA polymerase II promoter mediator complex DNA-directed RNA polymerase activity|transcription coactivator activity 0 Colorectal(261;0.0847) CATGTCTGGAGGATGTTGTTT 0.403000 SYT10 341359 broad.mit.edu 37 12 33579288 33579288 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr12:33579288C>T uc001rll.1 - 2 591 c.294G>A c.(292-294)CAG>CAA p.Q98Q SYT10_uc009zju.1_5'UTR NM_198992 NP_945343 Q6XYQ8 SYT10_HUMAN synaptotagmin X 98 Cytoplasmic (Potential). cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity ovary(1)|skin(1) 2 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) TTGAAATGCTCTGTGGAAGCG 0.423000 LRRK2 120892 broad.mit.edu 37 12 40672043 40672043 + Nonsense_Mutation SNP G G T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr12:40672043G>T uc001rmg.3 + 18 2342 c.2221G>T c.(2221-2223)GGA>TGA p.G741* LRRK2_uc001rmh.1_Nonsense_Mutation_p.G363* NM_198578 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 741 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1) 24 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) AGCAAAGGAGGGATCTTCTTT 0.393000 PDZRN4 29951 broad.mit.edu 37 12 41967251 41967251 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr12:41967251G>A uc010skn.1 + 10 2141 c.2073G>A c.(2071-2073)AAG>AAA p.K691K PDZRN4_uc001rmq.3_Silent_p.K632K|PDZRN4_uc009zjz.2_Silent_p.K630K|PDZRN4_uc001rmr.2_Silent_p.K517K NM_013377 NP_037509 Q6ZMN7 PZRN4_HUMAN PDZ domain containing RING finger 4 isoform 2 890 ubiquitin-protein ligase activity|zinc ion binding lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1) 11 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) TGGAATGGAAGGTGAAAATTA 0.502000 GXYLT1 283464 broad.mit.edu 37 12 42491296 42491296 + Missense_Mutation SNP T T C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr12:42491296T>C uc001rms.3 - 7 1334 c.1109A>G c.(1108-1110)TAC>TGC p.Y370C GXYLT1_uc001rmt.3_Missense_Mutation_p.Y339C NM_173601 NP_775872 Q4G148 GXLT1_HUMAN glycosyltransferase 8 domain containing 3 370 Lumenal (Potential). O-glycan processing integral to membrane UDP-xylosyltransferase activity 0 ATCGTCATGGTAAACACCTCT 0.333000 ARID2 196528 broad.mit.edu 37 12 46246350 46246350 + Nonsense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr12:46246350C>T uc001ros.1 + 15 4444 c.4444C>T c.(4444-4446)CAA>TAA p.Q1482* ARID2_uc001ror.2_Nonsense_Mutation_p.Q1482*|ARID2_uc009zkg.1_Nonsense_Mutation_p.Q938*|ARID2_uc009zkh.1_Nonsense_Mutation_p.Q1109*|ARID2_uc001rou.1_Nonsense_Mutation_p.Q816* NM_152641 NP_689854 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 1482 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(6)|skin(3)|upper_aerodigestive_tract(1) 10 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) ACAGGGACATCAAATCATAGC 0.448000 CCNT1 904 broad.mit.edu 37 12 49087792 49087792 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr12:49087792G>A uc001rse.1 - 9 1528 c.1205C>T c.(1204-1206)GCC>GTC p.A402V LOC144438_uc001rsd.3_5'Flank|CCNT1_uc009zkz.1_Missense_Mutation_p.A117V NM_001240 NP_001231 O60563 CCNT1_HUMAN cyclin T1 402 Potential. cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm DNA binding|protein kinase binding ovary(3)|lung(1)|breast(1)|skin(1) 6 CCTCTTCTGGGCAGCCAATTC 0.443000 PRPF40B 25766 broad.mit.edu 37 12 50029022 50029022 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr12:50029022G>A uc001rur.1 + 12 1140 c.1076G>A c.(1075-1077)CGC>CAC p.R359H PRPF40B_uc001rup.1_Missense_Mutation_p.R381H|PRPF40B_uc001ruq.1_Missense_Mutation_p.R353H|PRPF40B_uc001rus.1_Missense_Mutation_p.R302H NM_001031698 NP_001026868 Q6NWY9 PR40B_HUMAN Huntingtin interacting protein C isoform 1 359 mRNA processing|RNA splicing nuclear speck skin(2)|ovary(1)|pancreas(1)|kidney(1) 5 CAGCATGAACGCATGACCTCC 0.622000 KRT1 3848 broad.mit.edu 37 12 53069130 53069130 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr12:53069130G>A uc001sau.1 - 9 1841 c.1782C>T c.(1780-1782)GGC>GGT p.G594G KRT1_uc001sav.1_Silent_p.G587G NM_006121 NP_006112 P04264 K2C1_HUMAN keratin 1 594 Gly/Ser-rich.|Tail. complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress plasma membrane protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding ovary(1)|skin(1) 2 tgccgccgccgccgcctccag 0.274000 AVPR1A 552 broad.mit.edu 37 12 63544484 63544484 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr12:63544484C>T uc001sro.1 - 1 2107 c.133G>A c.(133-135)GTG>ATG p.V45M NM_000706 NP_000697 P37288 V1AR_HUMAN arginine vasopressin receptor 1A 45 Extracellular (Potential). activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy endosome|integral to plasma membrane protein kinase C binding|vasopressin receptor activity 0 BRCA - Breast invasive adenocarcinoma(9;0.193) GBM - Glioblastoma multiforme(28;0.0569) Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067) TCGTTGCGCACGTCCCTCGGT 0.697000 LEMD3 23592 broad.mit.edu 37 12 65609822 65609822 + Silent SNP A A G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr12:65609822A>G uc001ssl.1 + 3 1632 c.1626A>G c.(1624-1626)GCA>GCG p.A542A LEMD3_uc009zqo.1_Silent_p.A541A NM_014319 NP_055134 Q9Y2U8 MAN1_HUMAN LEM domain containing 3 542 negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway integral to nuclear inner membrane|membrane fraction DNA binding|nucleotide binding|protein binding central_nervous_system(3)|ovary(1) 4 LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975) GBM - Glioblastoma multiforme(28;0.0104) CACAGCTTGCAGGTAATTGTT 0.274000 ELK3 2004 broad.mit.edu 37 12 96641453 96641453 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr12:96641453G>A uc001teo.1 + 3 1222 c.943G>A c.(943-945)GCC>ACC p.A315T NM_005230 NP_005221 P41970 ELK3_HUMAN ELK3 protein 315 negative regulation of transcription, DNA-dependent|signal transduction mitochondrion protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(1) 1 all_cancers(2;0.00173) CGGCTCCATCGCCCTCAACAG 0.597000 FICD 11153 broad.mit.edu 37 12 108912784 108912784 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr12:108912784C>T uc001tmx.1 + 3 1055 c.909C>T c.(907-909)CCC>CCT p.P303P NM_007076 NP_009007 Q9BVA6 FICD_HUMAN Huntingtin interacting protein E 303 Fido. negative regulation of Rho GTPase activity integral to membrane binding|protein adenylyltransferase activity 0 ACGTGGACCCCGTGGAAGCCG 0.592000 TPCN1 53373 broad.mit.edu 37 12 113733856 113733856 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr12:113733856G>A uc001tuw.2 + 28 2723 c.2426G>A c.(2425-2427)CGC>CAC p.R809H TPCN1_uc001tux.2_Missense_Mutation_p.R881H|TPCN1_uc010syu.1_RNA NM_017901 NP_060371 Q9ULQ1 TPC1_HUMAN two pore segment channel 1 isoform 2 809 Cytoplasmic (Potential). endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity skin(2)|ovary(1) 3 CCAGGCAGCCGCCAGCGCTCC 0.602000 RPLP0 6175 broad.mit.edu 37 12 120636391 120636391 + Missense_Mutation SNP A A G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr12:120636391A>G uc001txp.2 - 6 854 c.617T>C c.(616-618)ATC>ACC p.I206T RPLP0_uc001txq.2_Missense_Mutation_p.I206T|RPLP0_uc001txr.2_Intron|uc001txs.1_5'Flank NM_053275 NP_444505 P05388 RLA0_HUMAN ribosomal protein P0 206 endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleus protein binding|RNA binding|structural constituent of ribosome ovary(1) 1 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TTCCTCTGTGATATCAAGCAC 0.512000 GPR133 283383 broad.mit.edu 37 12 131476867 131476867 + Missense_Mutation SNP A A G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr12:131476867A>G uc001uit.3 + 8 1455 c.896A>G c.(895-897)TAC>TGC p.Y299C GPR133_uc010tbm.1_Missense_Mutation_p.Y331C NM_198827 NP_942122 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 precursor 299 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity pancreas(5)|ovary(3)|skin(2) 10 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) ATACTGAGTTACCTCCAAAAT 0.478000 POLE 5426 broad.mit.edu 37 12 133254218 133254218 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr12:133254218G>A uc001uks.1 - 7 710 c.666C>T c.(664-666)CGC>CGT p.R222R POLE_uc010tbq.1_RNA|POLE_uc009zyu.1_Silent_p.R195R NM_006231 NP_006222 Q07864 DPOE1_HUMAN DNA-directed DNA polymerase epsilon 222 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding ovary(3)|skin(3)|lung(1)|central_nervous_system(1) 8 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) CATCGTACTCGCGCATGTCCA 0.502000 DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage ATP8A2 51761 broad.mit.edu 37 13 26411318 26411318 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr13:26411318G>A uc001uqk.2 + 29 2914 c.2772G>A c.(2770-2772)CCG>CCA p.P924P ATP8A2_uc010tdi.1_Silent_p.P859P|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc010aaj.1_Silent_p.P474P NM_016529 NP_057613 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter-like, 884 Helical; (Potential). ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|large_intestine(1)|skin(1) 4 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) CCGCTTTGCCGCCCTTCACTC 0.498000 KL 9365 broad.mit.edu 37 13 33591184 33591184 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr13:33591184C>T uc001uus.2 + 1 614 c.606C>T c.(604-606)GAC>GAT p.D202D KL_uc001uur.1_Intron NM_004795 NP_004786 Q9UEF7 KLOT_HUMAN klotho precursor 202 Glycosyl hydrolase-1 1.|Extracellular (Potential). aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization extracellular space|extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding large_intestine(1)|ovary(1)|skin(1) 3 all_epithelial(80;0.133) Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05) GCCTGCAGGACGCCTACGGCG 0.697000 ENOX1 55068 broad.mit.edu 37 13 43918697 43918697 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr13:43918697G>A uc001uza.3 - 9 1313 c.1013C>T c.(1012-1014)GCC>GTC p.A338V ENOX1_uc001uzb.3_Missense_Mutation_p.A338V|ENOX1_uc001uzc.3_Missense_Mutation_p.A338V|ENOX1_uc001uyz.3_5'UTR|ENOX1_uc010tfm.1_Missense_Mutation_p.A151V NM_001127615 NP_001121087 Q8TC92 ENOX1_HUMAN ecto-NOX disulfide-thiol exchanger 1 338 Potential. electron transport chain|rhythmic process|transport extracellular space|plasma membrane nucleic acid binding|nucleotide binding|oxidoreductase activity pancreas(1)|skin(1) 2 Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406) GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172) CCCAGTTAAGGCATTTTTAAA 0.403000 RNF219 79596 broad.mit.edu 37 13 79191059 79191059 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr13:79191059G>A uc001vkw.1 - 6 896 c.837C>T c.(835-837)GGC>GGT p.G279G uc001vku.1_RNA|RNF219_uc010afb.1_Silent_p.G89G|RNF219_uc010afc.2_Intron NM_024546 NP_078822 Q5W0B1 RN219_HUMAN ring finger protein 219 279 zinc ion binding large_intestine(2) 2 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848) GBM - Glioblastoma multiforme(99;0.0414) TGCTCCCTTTGCCATCTGCAG 0.453000 DOCK9 23348 broad.mit.edu 37 13 99449686 99449686 + Nonsense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr13:99449686G>A uc001vnt.2 - 53 6074 c.6019C>T c.(6019-6021)CGA>TGA p.R2007* DOCK9_uc001vnw.2_Nonsense_Mutation_p.R2006*|DOCK9_uc001vnq.2_Nonsense_Mutation_p.R554*|DOCK9_uc001vnr.2_Nonsense_Mutation_p.R636*|DOCK9_uc010tin.1_Nonsense_Mutation_p.R625*|DOCK9_uc001vns.2_Nonsense_Mutation_p.R542*|DOCK9_uc010tio.1_Nonsense_Mutation_p.R662*|DOCK9_uc010tip.1_Nonsense_Mutation_p.R703* NM_015296 NP_056111 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 isoform a 2007 DHR-2. blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity central_nervous_system(1) 1 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) TCAGGATATCGCTTTGTGTTT 0.388000 KDELC1 79070 broad.mit.edu 37 13 103443452 103443452 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr13:103443452C>T uc001vpq.3 - 6 1266 c.882G>A c.(880-882)ACG>ACA p.T294T KDELC1_uc001vpr.3_Silent_p.T75T NM_024089 NP_076994 Q6UW63 KDEL1_HUMAN KDEL (Lys-Asp-Glu-Leu) containing 1 precursor 294 endoplasmic reticulum lumen ovary(1) 1 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) AGGGAGGACCCGTGTTAGCTT 0.478000 F7 2155 broad.mit.edu 37 13 113771902 113771902 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr13:113771902C>T uc001vsv.2 + 8 848 c.797C>T c.(796-798)GCG>GTG p.A266V F7_uc001vsw.2_Missense_Mutation_p.A244V|F7_uc010tjt.1_Missense_Mutation_p.A197V NM_000131 NP_000122 P08709 FA7_HUMAN coagulation factor VII isoform a precursor 266 Peptidase S1. A -> T (in FA7D). anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis endoplasmic reticulum lumen|Golgi lumen|plasma membrane calcium ion binding|glycoprotein binding|serine-type endopeptidase activity 0 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218) Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170) AACCTGATCGCGGTGCTGGGT 0.632000 LRRC16B 90668 broad.mit.edu 37 14 24532580 24532580 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr14:24532580C>T uc001wlj.2 + 31 2974 c.2817C>T c.(2815-2817)ATC>ATT p.I939I LRRC16B_uc001wlk.2_Silent_p.I35I NM_138360 NP_612369 Q8ND23 LR16B_HUMAN leucine rich repeat containing 16B 939 ovary(2)|breast(2)|pancreas(1) 5 GBM - Glioblastoma multiforme(265;0.019) ATCTGGGGATCCCCCCTGGCT 0.582000 RALGAPA1 253959 broad.mit.edu 37 14 36159176 36159176 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr14:36159176G>A uc001wti.2 - 17 2691 c.2300C>T c.(2299-2301)ACT>ATT p.T767I RALGAPA1_uc001wtj.2_Missense_Mutation_p.T767I|RALGAPA1_uc010tpv.1_Missense_Mutation_p.T767I|RALGAPA1_uc010tpw.1_Missense_Mutation_p.T814I|RALGAPA1_uc001wtk.1_Missense_Mutation_p.T665I NM_014990 NP_055805 Q6GYQ0 RGPA1_HUMAN Ral GTPase activating protein, alpha subunit 1 767 activation of Ral GTPase activity cytosol|mitochondrion|nucleus protein heterodimerization activity|Ral GTPase activator activity ovary(3)|breast(1) 4 TCTGACTCTAGTTGAGCGGGG 0.333000 RALGAPA1 253959 broad.mit.edu 37 14 36194349 36194349 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr14:36194349G>A uc001wti.2 - 14 2138 c.1747C>T c.(1747-1749)CTG>TTG p.L583L RALGAPA1_uc001wtj.2_Silent_p.L583L|RALGAPA1_uc010tpv.1_Silent_p.L583L|RALGAPA1_uc010tpw.1_Silent_p.L583L|RALGAPA1_uc001wtk.1_Silent_p.L434L NM_014990 NP_055805 Q6GYQ0 RGPA1_HUMAN Ral GTPase activating protein, alpha subunit 1 583 activation of Ral GTPase activity cytosol|mitochondrion|nucleus protein heterodimerization activity|Ral GTPase activator activity ovary(3)|breast(1) 4 AACACAAGCAGCATCTGTTCC 0.353000 SSTR1 6751 broad.mit.edu 37 14 38679601 38679601 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr14:38679601G>A uc001wul.1 + 3 1624 c.1007G>A c.(1006-1008)CGC>CAC p.R336H SSTR1_uc010amu.1_Intron NM_001049 NP_001040 P30872 SSR1_HUMAN somatostatin receptor 1 336 Cytoplasmic (Potential). digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient integral to plasma membrane somatostatin receptor activity central_nervous_system(3)|ovary(1)|lung(1) 5 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00444) Octreotide(DB00104) TCTTTCCAACGCATCCTATGC 0.572000 SYNE2 23224 broad.mit.edu 37 14 64630227 64630227 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr14:64630227G>A uc001xgm.2 + 89 16637 c.16407G>A c.(16405-16407)CCG>CCA p.P5469P SYNE2_uc001xgl.2_Silent_p.P5469P|SYNE2_uc010apy.2_Silent_p.P1854P|SYNE2_uc001xgn.2_Silent_p.P431P|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_5'UTR NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 5469 Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) TGCTCCTCCCGGGCCCCCTGC 0.478000 SIPA1L1 26037 broad.mit.edu 37 14 72054698 72054698 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr14:72054698C>T uc001xms.2 + 2 457 c.109C>T c.(109-111)CGG>TGG p.R37W SIPA1L1_uc001xmt.2_Missense_Mutation_p.R37W|SIPA1L1_uc001xmu.2_Missense_Mutation_p.R37W|SIPA1L1_uc001xmv.2_Missense_Mutation_p.R37W NM_015556 NP_056371 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 37 actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity ovary(3)|breast(1) 4 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) TTTCTACATGCGGCGCTTCCG 0.547000 RGS6 9628 broad.mit.edu 37 14 73029132 73029132 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr14:73029132C>T uc001xna.3 + 17 1899 c.1376C>T c.(1375-1377)TCG>TTG p.S459L RGS6_uc010ttn.1_Missense_Mutation_p.S477L|RGS6_uc001xmx.3_Missense_Mutation_p.S459L|RGS6_uc010tto.1_RNA|RGS6_uc001xmy.3_Missense_Mutation_p.S477L|RGS6_uc001xmz.1_Intron NM_004296 NP_004287 P49758 RGS6_HUMAN regulator of G-protein signalling 6 459 G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity upper_aerodigestive_tract(1)|lung(1)|skin(1) 3 all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476) CAGGGAAAGTCGCTGGCGGGC 0.647000 PAPLN 89932 broad.mit.edu 37 14 73718470 73718470 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr14:73718470C>T uc010ttx.1 + 8 932 c.769C>T c.(769-771)CGG>TGG p.R257W PAPLN_uc001xnw.3_Missense_Mutation_p.R230W|PAPLN_uc010arl.2_RNA|PAPLN_uc010ttw.1_RNA|PAPLN_uc010tty.1_Missense_Mutation_p.R257W NM_173462 NP_775733 O95428 PPN_HUMAN papilin 257 proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468) GCATTACGAGCGGGGTGCTGA 0.657000 C14orf43 91748 broad.mit.edu 37 14 74205491 74205491 + Silent SNP C C T rs142510283 TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr14:74205491C>T uc001xot.2 - 2 2004 c.1221G>A c.(1219-1221)TCG>TCA p.S407S C14orf43_uc001xou.2_Silent_p.S407S|C14orf43_uc010tud.1_Silent_p.S407S|C14orf43_uc010arw.2_RNA NM_194278 NP_919254 Q6PJG2 CN043_HUMAN hypothetical protein LOC91748 407 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(4)|central_nervous_system(1) 5 BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115) GCAGTAGCTGCGACTCCCTCA 0.662000 TMED8 283578 broad.mit.edu 37 14 77808279 77808279 + Silent SNP A A T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr14:77808279A>T uc001xto.1 - 6 813 c.813T>A c.(811-813)GGT>GGA p.G271G TMED8_uc010ast.1_RNA|TMED8_uc001xtn.1_Silent_p.G115G NM_213601 NP_998766 Q6PL24 TMED8_HUMAN transmembrane emp24 protein transport domain 271 GOLD. transport integral to membrane 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0281) CCCCATAGCGACCCCGCAAGG 0.602000 FAM181A 90050 broad.mit.edu 37 14 94395003 94395003 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr14:94395003G>A uc001ybz.1 + 3 865 c.558G>A c.(556-558)CAG>CAA p.Q186Q C14orf86_uc001yby.2_5'Flank|FAM181A_uc010aus.1_Silent_p.Q124Q|FAM181A_uc001yca.1_Silent_p.Q124Q NM_138344 NP_612353 Q8N9Y4 F181A_HUMAN hypothetical protein LOC90050 186 0 AAGCTGCCCAGCCTGGCCAGG 0.632000 AHNAK2 113146 broad.mit.edu 37 14 105411774 105411774 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr14:105411774C>T uc010axc.1 - 7 10134 c.10014G>A c.(10012-10014)GCG>GCA p.A3338A AHNAK2_uc001ypx.2_Silent_p.A3238A NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3338 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CGTCGGCCTCCGCCTTCGGCG 0.617000 RYR3 6263 broad.mit.edu 37 15 33873841 33873841 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr15:33873841C>T uc001zhi.2 + 14 1640 c.1570C>T c.(1570-1572)CTG>TTG p.L524L RYR3_uc010bar.2_Silent_p.L524L NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 524 Cytoplasmic (By similarity). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) CTACAAATTGCTGGGTAAGTA 0.458000 TP53BP1 7158 broad.mit.edu 37 15 43714236 43714236 + Missense_Mutation SNP T T G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr15:43714236T>G uc001zrs.2 - 19 4050 c.3902A>C c.(3901-3903)GAT>GCT p.D1301A TP53BP1_uc010udp.1_Missense_Mutation_p.D1301A|TP53BP1_uc001zrq.3_Missense_Mutation_p.D1306A|TP53BP1_uc001zrr.3_Missense_Mutation_p.D1306A|TP53BP1_uc010udq.1_Missense_Mutation_p.D1306A NM_005657 NP_005648 Q12888 TP53B_HUMAN tumor protein p53 binding protein 1 isoform 3 1301 double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1) 7 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) GGAGCTGATATCCCCCAGGTC 0.532000 Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes CYP19A1 1588 broad.mit.edu 37 15 51514616 51514616 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr15:51514616G>A uc001zyz.3 - 6 809 c.558C>T c.(556-558)GAC>GAT p.D186D CYP19A1_uc001zza.3_Silent_p.D186D|CYP19A1_uc001zzb.2_Silent_p.D186D|CYP19A1_uc001zzd.2_Silent_p.D186D|CYP19A1_uc010bey.1_Silent_p.D186D NM_031226 NP_112503 P11511 CP19A_HUMAN cytochrome P450, family 19 186 estrogen biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|membrane fraction aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity skin(3) 3 all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128) Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624) GGGTCAACACGTCCACATAGC 0.517000 TLN2 83660 broad.mit.edu 37 15 63069014 63069014 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr15:63069014G>A uc002alb.3 + 40 5419 c.5419G>A c.(5419-5421)GCC>ACC p.A1807T TLN2_uc002alc.3_Missense_Mutation_p.A200T|TLN2_uc002ald.2_Missense_Mutation_p.A200T NM_015059 NP_055874 Q9Y4G6 TLN2_HUMAN talin 2 1807 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2) 11 GATGAAGGAAGCCGTGGATGA 0.557000 CILP 8483 broad.mit.edu 37 15 65489719 65489719 + Nonsense_Mutation SNP G G A rs150946463 TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr15:65489719G>A uc002aon.2 - 9 3086 c.2905C>T c.(2905-2907)CGA>TGA p.R969* NM_003613 NP_003604 O75339 CILP1_HUMAN cartilage intermediate layer protein 969 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix ovary(4)|pancreas(2)|skin(1) 7 TTGCGGGATCGCACATTCACT 0.562000 C15orf44 81556 broad.mit.edu 37 15 65871779 65871779 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr15:65871779C>T uc002apd.2 - 12 1860 c.1524G>A c.(1522-1524)ACG>ACA p.T508T C15orf44_uc010uix.1_Silent_p.T544T|C15orf44_uc010uiz.1_Silent_p.T472T|C15orf44_uc010uja.1_Silent_p.T458T|C15orf44_uc010ujb.1_Silent_p.T429T|C15orf44_uc002ape.3_Silent_p.T508T|C15orf44_uc010uiy.1_Silent_p.T429T NM_030800 NP_110427 Q96SY0 CO044_HUMAN hypothetical protein LOC81556 isoform 2 508 ovary(1) 1 CAGAGAAGTCCGTGTGCAAAG 0.473000 C15orf44 81556 broad.mit.edu 37 15 65891302 65891302 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr15:65891302G>A uc002apd.2 - 5 849 c.513C>T c.(511-513)TGC>TGT p.C171C C15orf44_uc010uix.1_Silent_p.C207C|C15orf44_uc010uiz.1_Silent_p.C135C|C15orf44_uc010uja.1_Silent_p.C122C|C15orf44_uc010ujb.1_Silent_p.C92C|C15orf44_uc002ape.3_Silent_p.C171C|C15orf44_uc010uiy.1_Silent_p.C92C NM_030800 NP_110427 Q96SY0 CO044_HUMAN hypothetical protein LOC81556 isoform 2 171 VWFA. ovary(1) 1 GACGTTCAAGGCATTCCAAGG 0.428000 FEM1B 10116 broad.mit.edu 37 15 68582994 68582994 + Missense_Mutation SNP T T C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr15:68582994T>C uc002arg.2 + 2 1913 c.1298T>C c.(1297-1299)GTC>GCC p.V433A FEM1B_uc002arh.2_Missense_Mutation_p.V353A NM_015322 NP_056137 Q9UK73 FEM1B_HUMAN fem-1 homolog b 433 apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity cytoplasm|nucleus death receptor binding|ubiquitin-protein ligase activity 0 GATGCTGATGTCCACAATGCT 0.373000 THSD4 79875 broad.mit.edu 37 15 72020961 72020961 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr15:72020961C>T uc002atb.1 + 8 1510 c.1431C>T c.(1429-1431)GGC>GGT p.G477G THSD4_uc002atd.1_Silent_p.G151G|THSD4_uc010ukg.1_Silent_p.G117G|THSD4_uc002ate.2_Silent_p.G117G NM_024817 NP_079093 Q6ZMP0 THSD4_HUMAN thrombospondin, type I, domain containing 4 477 proteinaceous extracellular matrix metalloendopeptidase activity ovary(2) 2 AATACGAGGGCGGAGGGACCA 0.502000 GOLGA6B 55889 broad.mit.edu 37 15 72956779 72956779 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr15:72956779G>A uc010uks.1 + 13 1469 c.1428G>A c.(1426-1428)GAG>GAA p.E476E uc002aux.1_5'Flank NM_018652 NP_061122 A6NDN3 GOG6B_HUMAN golgi autoantigen, golgin subfamily a, 6B 476 Potential. 0 CCCCTTAGGAGCACCTAGAAG 0.622000 PML 5371 broad.mit.edu 37 15 74315644 74315644 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr15:74315644C>T uc002awv.2 + 3 1218 c.1078C>T c.(1078-1080)CGC>TGC p.R360C PML_uc002awm.2_Missense_Mutation_p.R360C|PML_uc002awl.2_Missense_Mutation_p.R360C|PML_uc002awj.1_Missense_Mutation_p.R360C|PML_uc002awk.2_Missense_Mutation_p.R360C|PML_uc002awn.2_Missense_Mutation_p.R360C|PML_uc002awo.2_Missense_Mutation_p.R360C|PML_uc002awp.2_Missense_Mutation_p.R360C|PML_uc002awq.2_Missense_Mutation_p.R360C|PML_uc002awr.2_Missense_Mutation_p.R360C|PML_uc002aws.2_Missense_Mutation_p.R360C|PML_uc002awt.2_Missense_Mutation_p.R360C|PML_uc002awu.2_Missense_Mutation_p.R360C|PML_uc010ule.1_Intron|PML_uc002aww.1_Missense_Mutation_p.R275C|PML_uc002awx.2_Missense_Mutation_p.R118C|PML_uc002awy.2_5'Flank NM_033238 NP_150241 P29590 PML_HUMAN promyelocytic leukemia protein isoform 1 360 cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body cobalt ion binding|DNA binding|protein binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding|zinc ion binding central_nervous_system(2)|kidney(2)|breast(1) 5 CTGCCGCCTGCGCCAGGAGGA 0.677000 T RARA|PAX5 APL|ALL SIN3A 25942 broad.mit.edu 37 15 75693198 75693198 + Missense_Mutation SNP C C A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr15:75693198C>A uc002bai.2 - 11 1869 c.1610G>T c.(1609-1611)CGA>CTA p.R537L SIN3A_uc002baj.2_Missense_Mutation_p.R537L|SIN3A_uc010uml.1_Missense_Mutation_p.R537L NM_015477 NP_056292 Q96ST3 SIN3A_HUMAN transcriptional co-repressor Sin3A 537 Interactions with SUDS3 and SAP130.|Interaction with NCOR1 (By similarity). blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|Sin3 complex protein binding skin(3)|ovary(1)|lung(1) 5 CTCTGTGGCTCGCTCCTTTGG 0.428000 AKAP13 11214 broad.mit.edu 37 15 86261259 86261259 + Missense_Mutation SNP A A G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr15:86261259A>G uc002blv.1 + 22 6040 c.5870A>G c.(5869-5871)GAA>GGA p.E1957G AKAP13_uc002blu.1_Missense_Mutation_p.E1961G|AKAP13_uc010bnf.1_Missense_Mutation_p.E578G|AKAP13_uc002blw.1_Missense_Mutation_p.E422G|AKAP13_uc002blx.1_Missense_Mutation_p.E202G NM_007200 NP_009131 Q12802 AKP13_HUMAN A-kinase anchor protein 13 isoform 2 1957 Interaction with ESR1. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1) 9 GACATGAATGAAGGACAACTA 0.383000 HAPLN3 145864 broad.mit.edu 37 15 89424594 89424594 + Missense_Mutation SNP G G T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr15:89424594G>T uc002bnc.2 - 3 615 c.487C>A c.(487-489)CTG>ATG p.L163M HAPLN3_uc002bne.2_RNA|HAPLN3_uc002bnd.2_Missense_Mutation_p.L225M NM_178232 NP_839946 Q96S86 HPLN3_HUMAN hyaluronan and proteoglycan link protein 3 163 Ig-like V-type. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding 0 Lung NSC(78;0.0392)|all_lung(78;0.077) TCACCCCGCAGCTCCAGCTCC 0.557000 C15orf42 90381 broad.mit.edu 37 15 90125982 90125982 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr15:90125982C>T uc002boe.2 + 2 720 c.720C>T c.(718-720)GGC>GGT p.G240G NM_152259 NP_689472 Q7Z2Z1 TICRR_HUMAN leucine-rich repeat kinase 1 240 cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation nucleus chromatin binding|protein binding ovary(4)|central_nervous_system(2)|skin(1) 7 Lung NSC(78;0.0237)|all_lung(78;0.0478) BRCA - Breast invasive adenocarcinoma(143;0.128) ACGGAGGTGGCACTGTCTTGC 0.463000 MAN2A2 4122 broad.mit.edu 37 15 91454123 91454123 + Missense_Mutation SNP G G T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr15:91454123G>T uc010bnz.2 + 12 1922 c.1807G>T c.(1807-1809)GCC>TCC p.A603S MAN2A2_uc010boa.2_Missense_Mutation_p.A645S|MAN2A2_uc002bqc.2_Missense_Mutation_p.A603S|MAN2A2_uc010uql.1_Missense_Mutation_p.A265S|MAN2A2_uc010uqm.1_Missense_Mutation_p.A182S|MAN2A2_uc010uqn.1_5'Flank NM_006122 NP_006113 P49641 MA2A2_HUMAN mannosidase, alpha, class 2A, member 2 603 Lumenal (Potential). mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding large_intestine(2)|ovary(1) 3 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.229) CATTCATGCAGCCCACTATCT 0.592000 RPUSD1 113000 broad.mit.edu 37 16 836929 836929 + Splice_Site SNP C C A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr16:836929C>A uc002cka.2 - 4 644 c.410_splice c.e4-1 p.G137_splice RPUSD1_uc002ckb.2_Splice_Site_p.G137_splice|RPUSD1_uc002ckc.2_Splice_Site_p.G8_splice|RPUSD1_uc002ckd.2_Splice_Site_p.V103_splice|CHTF18_uc010uus.1_5'Flank|CHTF18_uc010bre.1_5'Flank|CHTF18_uc002cke.3_5'Flank|CHTF18_uc002ckf.3_5'Flank|CHTF18_uc010brf.2_5'Flank|CHTF18_uc002ckg.3_5'Flank NM_058192 NP_478072 Q9UJJ7 RUSD1_HUMAN RNA pseudouridylate synthase domain containing pseudouridine synthesis pseudouridine synthase activity|RNA binding 0 Hepatocellular(780;0.00335) TTCTCACAACCTGGGGCGCAG 0.652000 CCNF 899 broad.mit.edu 37 16 2499405 2499405 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr16:2499405C>T uc002cqd.1 + 12 1429 c.1341C>T c.(1339-1341)TAC>TAT p.Y447Y CCNF_uc002cqe.1_Silent_p.Y139Y NM_001761 NP_001752 P41002 CCNF_HUMAN cyclin F 447 cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process centriole|nucleus|SCF ubiquitin ligase complex protein binding central_nervous_system(1)|kidney(1) 2 Ovarian(90;0.17) TGTCCGCCTACGCCCCAGCCC 0.672000 CPPED1 55313 broad.mit.edu 37 16 12875064 12875064 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr16:12875064G>A uc002dca.3 - 2 378 c.267C>T c.(265-267)GGC>GGT p.G89G CPPED1_uc002dcb.3_Silent_p.G89G NM_018340 NP_060810 Q9BRF8 CPPED_HUMAN calcineurin-like phosphoesterase domain 89 hydrolase activity|metal ion binding 0 GGATGAGGTCGCCGCACAGAA 0.527000 ABCC1 4363 broad.mit.edu 37 16 16218650 16218650 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr16:16218650C>T uc010bvi.2 + 25 3770 c.3595C>T c.(3595-3597)CTG>TTG p.L1199L ABCC1_uc010bvj.2_Silent_p.L1140L|ABCC1_uc010bvk.2_Silent_p.L1143L|ABCC1_uc010bvl.2_Silent_p.L1199L|ABCC1_uc010bvm.2_Silent_p.L1084L|ABCC1_uc002del.3_Silent_p.L1093L NM_004996 NP_004987 P33527 MRP1_HUMAN ATP-binding cassette, sub-family C, member 1 1199 Cytoplasmic.|ABC transmembrane type-1 2. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(4) 4 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) GCGCAGGTGGCTGGCCGTGCG 0.582000 VWA3A 146177 broad.mit.edu 37 16 22144335 22144335 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr16:22144335G>A uc010vbq.1 + 20 2083 c.1987G>A c.(1987-1989)GCC>ACC p.A663T VWA3A_uc010bxd.2_RNA|VWA3A_uc010bxc.2_Missense_Mutation_p.A671T NM_173615 NP_775886 A6NCI4 VWA3A_HUMAN von Willebrand factor A domain containing 3A 663 VWFA 1. extracellular region skin(1) 1 GBM - Glioblastoma multiforme(48;0.0439) TGCCCGCTATGCCAGTCACAC 0.612000 TNRC6A 27327 broad.mit.edu 37 16 24802619 24802619 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr16:24802619G>A uc002dmm.2 + 6 2770 c.2656G>A c.(2656-2658)GGT>AGT p.G886S TNRC6A_uc010bxs.2_Missense_Mutation_p.G633S|TNRC6A_uc010vcc.1_Missense_Mutation_p.G633S|TNRC6A_uc002dmn.2_Missense_Mutation_p.G633S|TNRC6A_uc002dmo.2_Missense_Mutation_p.G633S NM_014494 NP_055309 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 886 Sufficient for interaction with EIF2C1 and EIF2C4. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding ovary(2) 2 GBM - Glioblastoma multiforme(48;0.0394) GTCCGTTTCCGGTTGGAACGA 0.433000 ZNF629 23361 broad.mit.edu 37 16 30794465 30794465 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr16:30794465G>A uc002dzs.1 - 3 1392 c.1184C>T c.(1183-1185)ACG>ATG p.T395M NM_001080417 NP_001073886 Q9UEG4 ZN629_HUMAN zinc finger protein 629 395 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(24;0.198) GCCCGTGTGCGTGCGCTGGTG 0.662000 N4BP1 9683 broad.mit.edu 37 16 48594880 48594880 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr16:48594880G>A uc002efp.2 - 2 1911 c.1674C>T c.(1672-1674)TGC>TGT p.C558C NM_153029 NP_694574 O75113 N4BP1_HUMAN Nedd4 binding protein 1 558 negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination nucleolus|PML body 0 all_cancers(37;0.179)|all_lung(18;0.11) AAAGGGTTGAGCAATTTGGCT 0.453000 CBLN1 869 broad.mit.edu 37 16 49315161 49315161 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr16:49315161G>A uc002efq.2 - 1 555 c.216C>T c.(214-216)CAC>CAT p.H72H NM_004352 NP_004343 P23435 CBLN1_HUMAN cerebellin 1 precursor 72 C1q.|Necessary for interaction with CBLN3, and homotrimerization (By similarity). nervous system development|synaptic transmission cell junction|extracellular region|synapse 0 all_cancers(37;0.0766)|all_lung(18;0.24) CGGACGGCTCGTGGTTGGTGC 0.612000 CHD9 80205 broad.mit.edu 37 16 53191220 53191220 + Missense_Mutation SNP G G A rs147266259 by1000genomes TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr16:53191220G>A uc002ehb.2 + 1 1383 c.1219G>A c.(1219-1221)GAG>AAG p.E407K CHD9_uc002egy.2_Missense_Mutation_p.E407K|CHD9_uc002egz.1_Missense_Mutation_p.E407K|CHD9_uc002eha.1_Missense_Mutation_p.E407K|CHD9_uc002ehc.2_Missense_Mutation_p.E407K NM_025134 NP_079410 Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 407 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) ACTTGACCCCGAGGACCTCCT 0.403000 C16orf80 29105 broad.mit.edu 37 16 58149340 58149340 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr16:58149340G>A uc002enb.1 - 4 575 c.298C>T c.(298-300)CGT>TGT p.R100C NM_013242 NP_037374 Q9Y6A4 CP080_HUMAN transcription factor IIB 100 multicellular organismal development 0 AAGCGACGACGCACATTCTTG 0.512000 DPEP3 64180 broad.mit.edu 37 16 68013621 68013621 + Missense_Mutation SNP A A G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr16:68013621A>G uc002evc.3 - 2 504 c.410T>C c.(409-411)CTT>CCT p.L137P DPEP3_uc010cex.2_Missense_Mutation_p.L137P NM_022357 NP_071752 Q9H4B8 DPEP3_HUMAN dipeptidase 3 isoform a 112 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) AACATCCTGAAGCACATTCTT 0.557000 DUS2L 54920 broad.mit.edu 37 16 68110548 68110548 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr16:68110548G>A uc002evi.2 + 15 1245 c.1096G>A c.(1096-1098)GCC>ACC p.A366T DUS2L_uc002evj.2_Missense_Mutation_p.A366T|DUS2L_uc010vkk.1_Missense_Mutation_p.A331T|DUS2L_uc010cez.2_Missense_Mutation_p.A279T NM_017803 NP_060273 Q9NX74 DUS2L_HUMAN dihydrouridine synthase 2-like, SMM1 homolog 366 tRNA processing endoplasmic reticulum double-stranded RNA binding|flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity 0 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0131)|Epithelial(162;0.0564) AGCATACCCAGCCCAGATCAC 0.597000 WWP2 11060 broad.mit.edu 37 16 69964094 69964094 + Nonsense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr16:69964094C>T uc002exu.1 + 14 1467 c.1378C>T c.(1378-1380)CGA>TGA p.R460* WWP2_uc002exv.1_Nonsense_Mutation_p.R460*|WWP2_uc010vlm.1_Nonsense_Mutation_p.R344*|WWP2_uc010vln.1_Nonsense_Mutation_p.R78*|WWP2_uc002exw.1_Nonsense_Mutation_p.R21*|uc002exx.1_5'Flank|MIR140_hsa-mir-140|MI0000456_5'Flank NM_007014 NP_008945 O00308 WWP2_HUMAN WW domain containing E3 ubiquitin protein ligase 460 WW 4. entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus|ubiquitin ligase complex RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity lung(3)|ovary(1)|breast(1)|skin(1) 6 CGAGGGGGTGCGATACTTTGT 0.572000 OREG0023910 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) MTSS1L 92154 broad.mit.edu 37 16 70708342 70708342 + Missense_Mutation SNP T T C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr16:70708342T>C uc002ezj.2 - 11 1180 c.920A>G c.(919-921)TAC>TGC p.Y307C NM_138383 NP_612392 Q765P7 MTSSL_HUMAN metastasis suppressor 1-like 307 Ser-rich. filopodium assembly|signal transduction actin binding|cytoskeletal adaptor activity|SH3 domain binding central_nervous_system(1) 1 CAGGCTGCGGTAGCGACAGGT 0.662000 PMFBP1 83449 broad.mit.edu 37 16 72158677 72158677 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr16:72158677C>T uc002fcc.3 - 17 2765 c.2593G>A c.(2593-2595)GAC>AAC p.D865N PMFBP1_uc002fcd.2_Missense_Mutation_p.D860N|PMFBP1_uc002fce.2_RNA|PMFBP1_uc002fcf.2_Missense_Mutation_p.D715N|PMFBP1_uc010cgo.1_Missense_Mutation_p.D156N NM_031293 NP_112583 Q8TBY8 PMFBP_HUMAN polyamine modulated factor 1 binding protein 1 865 Potential. ovary(2) 2 Ovarian(137;0.179) TCCTTATCGTCCTCAAGGAGG 0.572000 OREG0023927 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) MLYCD 23417 broad.mit.edu 37 16 83933108 83933108 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr16:83933108C>T uc002fgz.2 + 1 379 c.359C>T c.(358-360)GCG>GTG p.A120V NM_012213 NP_036345 O95822 DCMC_HUMAN malonyl-CoA decarboxylase precursor 120 acyl-CoA metabolic process|fatty acid biosynthetic process mitochondrion|peroxisome malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity 0 CGGGAGGCGGCGGTGCTGCTG 0.746000 SLC38A8 146167 broad.mit.edu 37 16 84050219 84050219 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr16:84050219G>A uc002fhg.1 - 8 1067 c.1067C>T c.(1066-1068)ACC>ATC p.T356I NM_001080442 NP_001073911 A6NNN8 S38A8_HUMAN solute carrier family 38, member 8 356 Helical; (Potential). amino acid transport|sodium ion transport integral to membrane 0 GAGCGTCACGGTGACCCACAG 0.627000 ATP2C2 9914 broad.mit.edu 37 16 84485577 84485577 + Missense_Mutation SNP C C A rs146513346 by1000genomes TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr16:84485577C>A uc002fhx.2 + 18 1800 c.1711C>A c.(1711-1713)CTT>ATT p.L571I ATP2C2_uc010chj.2_Missense_Mutation_p.L571I|ATP2C2_uc002fhy.2_Missense_Mutation_p.L588I|ATP2C2_uc002fhz.2_Missense_Mutation_p.L420I NM_014861 NP_055676 O75185 AT2C2_HUMAN ATPase, Ca++ transporting, type 2C, member 2 571 Extracellular (Potential). ATP biosynthetic process Golgi membrane|integral to membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding breast(1)|central_nervous_system(1) 2 GTTTCTCGGTCTTGTGGGCAT 0.627000 COX4I1 1327 broad.mit.edu 37 16 85839401 85839401 + Missense_Mutation SNP A A G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr16:85839401A>G uc002fje.2 + 4 468 c.304A>G c.(304-306)ACG>GCG p.T102A COX4I1_uc002fjf.2_3'UTR|COX4I1_uc002fjg.1_Missense_Mutation_p.T102A|COX4I1_uc010vom.1_Missense_Mutation_p.T69A NM_001861 NP_001852 P13073 COX41_HUMAN cytochrome c oxidase subunit IV isoform 1 102 respiratory electron transport chain mitochondrial inner membrane|nucleus cytochrome-c oxidase activity|protein binding lung(1) 1 Renal(780;0.228) CGAGTGGAAGACGGTTGTGGG 0.547000 ANKRD11 29123 broad.mit.edu 37 16 89350965 89350965 + Missense_Mutation SNP T T C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr16:89350965T>C uc002fmx.1 - 9 2446 c.1985A>G c.(1984-1986)GAG>GGG p.E662G ANKRD11_uc002fmy.1_Missense_Mutation_p.E662G|ANKRD11_uc002fnc.1_Missense_Mutation_p.E662G|ANKRD11_uc002fnb.1_Missense_Mutation_p.E619G NM_013275 NP_037407 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 662 Lys-rich. nucleus ovary(4)|large_intestine(1)|central_nervous_system(1) 6 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) CTTGGAGTCCTCATATTCGTA 0.373000 RPA1 6117 broad.mit.edu 37 17 1783866 1783866 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr17:1783866C>T uc002fto.2 + 12 1237 c.1122C>T c.(1120-1122)CCC>CCT p.P374P NM_002945 NP_002936 P27694 RFA1_HUMAN replication protein A1 374 cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body metal ion binding|protein binding|single-stranded DNA binding 0 CTAGACAGCCCGTGTTGGCTA 0.453000 NER PITPNM3 83394 broad.mit.edu 37 17 6376029 6376029 + Silent SNP G G A rs143785279 TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr17:6376029G>A uc002gdd.3 - 11 1528 c.1377C>T c.(1375-1377)AGC>AGT p.S459S PITPNM3_uc010cln.2_Silent_p.S423S|PITPNM3_uc010clm.2_5'UTR|PITPNM3_uc002gdc.3_Silent_p.S50S NM_031220 NP_112497 Q9BZ71 PITM3_HUMAN PITPNM family member 3 isoform 1 459 DDHD. phosphatidylinositol metabolic process endomembrane system|integral to membrane calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding ovary(2)|central_nervous_system(2) 4 Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185) AGCGAGGCACGCTGACAGGCG 0.652000 DNAH2 146754 broad.mit.edu 37 17 7707688 7707688 + Missense_Mutation SNP G G T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr17:7707688G>T uc002giu.1 + 58 9101 c.9087G>T c.(9085-9087)GAG>GAT p.E3029D DNAH2_uc010cnm.1_Missense_Mutation_p.E6D NM_020877 NP_065928 Q9P225 DYH2_HUMAN dynein heavy chain domain 3 3029 Potential.|Stalk (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(6)|skin(6)|central_nervous_system(1) 13 all_cancers(10;4.66e-07)|Prostate(122;0.081) TGGAGCTGGAGGATGCCAAGA 0.542000 KDM6B 23135 broad.mit.edu 37 17 7753402 7753402 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr17:7753402C>T uc002giw.1 + 13 3956 c.3580C>T c.(3580-3582)CGG>TGG p.R1194W KDM6B_uc002gix.2_Missense_Mutation_p.R496W NM_001080424 NP_001073893 O15054 KDM6B_HUMAN lysine (K)-specific demethylase 6B 1194 inflammatory response nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen central_nervous_system(1)|pancreas(1) 2 GGAGAGCAAACGGGATGCCTT 0.607000 ARHGEF15 22899 broad.mit.edu 37 17 8216372 8216372 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr17:8216372G>A uc002glc.2 + 3 855 c.734G>A c.(733-735)CGG>CAG p.R245Q ARHGEF15_uc002glb.1_3'UTR|ARHGEF15_uc002gld.2_Missense_Mutation_p.R245Q|ARHGEF15_uc010vuw.1_Intron NM_173728 NP_776089 O94989 ARHGF_HUMAN Rho guanine exchange factor 15 245 negative regulation of synapse maturation|regulation of Rho protein signal transduction dendrite|intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity ovary(2)|skin(1) 3 TCCCCGCTGCGGACCTCTCGC 0.687000 ARHGEF15 22899 broad.mit.edu 37 17 8218457 8218457 + Silent SNP T T G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr17:8218457T>G uc002glc.2 + 6 1243 c.1122T>G c.(1120-1122)CCT>CCG p.P374P ARHGEF15_uc002gld.2_Silent_p.P374P|ARHGEF15_uc010vuw.1_Silent_p.P263P NM_173728 NP_776089 O94989 ARHGF_HUMAN Rho guanine exchange factor 15 374 negative regulation of synapse maturation|regulation of Rho protein signal transduction dendrite|intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity ovary(2)|skin(1) 3 ATGGGAGTCCTTCTCCAGCAA 0.612000 MFSD6L 162387 broad.mit.edu 37 17 8701217 8701217 + Missense_Mutation SNP C C T rs143056359 byFrequency TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr17:8701217C>T uc002glp.1 - 1 1370 c.1222G>A c.(1222-1224)GCC>ACC p.A408T NM_152599 NP_689812 Q8IWD5 MFS6L_HUMAN major facilitator superfamily domain containing 408 Helical; (Potential). integral to membrane central_nervous_system(1) 1 AAGCTGAGGGCGACCGAGAAA 0.562000 CDRT15 146822 broad.mit.edu 37 17 14139301 14139301 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr17:14139301G>A uc010vvu.1 - 3 439 c.439C>T c.(439-441)CTG>TTG p.L147L CDRT15_uc010coq.2_RNA NM_001007530 NP_001007531 Q96T59 CDRTF_HUMAN CMT1A duplicated region transcript 15 147 0 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822) CTTCTTCCCAGCCTTCTTTTA 0.567000 SSH2 85464 broad.mit.edu 37 17 27958581 27958581 + Missense_Mutation SNP C C T rs144293105 by1000genomes TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr17:27958581C>T uc002heo.1 - 15 3550 c.3550G>A c.(3550-3552)GCA>ACA p.A1184T SSH2_uc010wbh.1_Missense_Mutation_p.A1211T NM_033389 NP_203747 Q76I76 SSH2_HUMAN slingshot 2 1184 actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity skin(2) 2 CTTAGGTCTGCGCTACTTAGC 0.507000 MMP28 79148 broad.mit.edu 37 17 34094866 34094866 + Missense_Mutation SNP T T A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr17:34094866T>A uc002hjy.1 - 9 1332 c.1073A>T c.(1072-1074)GAG>GTG p.E358V MMP28_uc002hjw.1_RNA|MMP28_uc002hjz.1_RNA NM_024302 NP_077278 Q9H239 MMP28_HUMAN matrix metalloproteinase 28 isoform 1 358 Hemopexin-like 1. proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding skin(1) 1 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) TGGACGGGGCTCTGAGACGTT 0.522000 CCL23 6368 broad.mit.edu 37 17 34340329 34340329 + Nonsense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr17:34340329G>A uc002hkt.1 - 4 342 c.271C>T c.(271-273)CGA>TGA p.R91* CCL23_uc002hks.1_Nonsense_Mutation_p.R108* NM_145898 NP_665905 P55773 CCL23_HUMAN small inducible cytokine A23 isoform CKbeta8 91 cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|negative regulation of cell proliferation extracellular space chemokine activity|heparin binding 0 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) Treprostinil(DB00374) CAGAAACGTCGCCCCTTCTTG 0.532000 ERBB2 2064 broad.mit.edu 37 17 37879658 37879658 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr17:37879658G>A uc002hso.2 + 17 2271 c.2033G>A c.(2032-2034)CGG>CAG p.R678Q ERBB2_uc002hsm.2_Missense_Mutation_p.R648Q|ERBB2_uc010cwa.2_Missense_Mutation_p.R663Q|ERBB2_uc002hsp.2_Missense_Mutation_p.R481Q|ERBB2_uc010cwb.2_Missense_Mutation_p.R678Q|ERBB2_uc010wek.1_Missense_Mutation_p.R402Q NM_004448 NP_004439 P04626 ERBB2_HUMAN erbB-2 isoform a 678 Cytoplasmic (Potential). cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1) 143 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) ATCAAGCGACGGCAGCAGAAG 0.637000 1 A|Mis|O breast|ovarian|other tumour types|NSCLC|gastric TCGA GBM(5;<1E-08) KRT32 3882 broad.mit.edu 37 17 39623484 39623484 + Missense_Mutation SNP G G A rs149170177 by1000genomes TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr17:39623484G>A uc002hwr.2 - 1 155 c.94C>T c.(94-96)CGG>TGG p.R32W NM_002278 NP_002269 Q14532 K1H2_HUMAN keratin 32 32 Head. epidermis development intermediate filament protein binding|structural molecule activity 0 Breast(137;0.000812) AGCTCAGGCCGGCAGTTCACG 0.632000 SOST 50964 broad.mit.edu 37 17 41832889 41832889 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr17:41832889G>A uc002iec.1 - 2 510 c.463C>T c.(463-465)CGC>TGC p.R155C NM_025237 NP_079513 Q9BQB4 SOST_HUMAN sclerostin precursor 155 CTCK. negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of ossification|negative regulation of protein complex assembly|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway heparin binding|protein binding 0 Breast(137;0.00725) UCEC - Uterine corpus endometrioid carcinoma (308;0.177)|BRCA - Breast invasive adenocarcinoma(366;0.0741) TTGCGCGCGCGCGGCGCCTCA 0.711000 HOXB9 3219 broad.mit.edu 37 17 46703515 46703515 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr17:46703515C>T uc002inx.2 - 1 321 c.117G>A c.(115-117)CCG>CCA p.P39P NM_024017 NP_076922 P17482 HXB9_HUMAN homeobox B9 39 canonical Wnt receptor signaling pathway|cell chemotaxis mitochondrion|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 CCGCGTGGCCCGGCTGCCGCG 0.662000 MYCBPAP 84073 broad.mit.edu 37 17 48603504 48603504 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr17:48603504G>A uc010wmr.1 + 14 2336 c.2174G>A c.(2173-2175)CGG>CAG p.R725Q MYCBPAP_uc002iqz.2_RNA NM_032133 NP_115509 Q8TBZ2 MYBPP_HUMAN Myc-binding protein-associated protein 688 cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission cytoplasm|membrane protein binding urinary_tract(2)|skin(2)|ovary(1)|pancreas(1) 6 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;1.23e-09) AGTCCTCAGCGGAAGAGCATC 0.627000 FTSJ3 117246 broad.mit.edu 37 17 61899365 61899365 + Missense_Mutation SNP T T C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr17:61899365T>C uc002jbz.2 - 13 1532 c.1454A>G c.(1453-1455)CAG>CGG p.Q485R FTSJ3_uc002jca.2_Missense_Mutation_p.Q485R NM_017647 NP_060117 Q8IY81 RRMJ3_HUMAN FtsJ homolog 3 485 RNA methylation|rRNA processing nucleolus methyltransferase activity|nucleic acid binding ovary(1) 1 CCTTAGACCCTGATGTCCCCT 0.537000 APCDD1 147495 broad.mit.edu 37 18 10487790 10487790 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr18:10487790C>T uc002kom.3 + 5 1654 c.1300C>T c.(1300-1302)CGC>TGC p.R434C NM_153000 NP_694545 Q8J025 APCD1_HUMAN adenomatosis polyposis coli down-regulated 1 434 Extracellular (Potential). hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to plasma membrane Wnt-protein binding 0 READ - Rectum adenocarcinoma(15;0.08) TGCCCGGGGGCGCTATCTGCT 0.602000 CEP192 55125 broad.mit.edu 37 18 13069103 13069103 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr18:13069103G>A uc010xac.1 + 26 5058 c.4978G>A c.(4978-4980)GCC>ACC p.A1660T CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Missense_Mutation_p.A1185T|CEP192_uc002kru.2_RNA|CEP192_uc002krv.2_Missense_Mutation_p.A82T|CEP192_uc002krw.2_5'Flank NM_032142 NP_115518 E9PF99 E9PF99_HUMAN centrosomal protein 192kDa 1660 ovary(4)|pancreas(1) 5 GCATTTCTTGGCCAAAGTGGC 0.438000 C18orf19 125228 broad.mit.edu 37 18 13671878 13671878 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr18:13671878C>T uc010dlh.2 - 4 1000 c.568G>A c.(568-570)GCA>ACA p.A190T C18orf19_uc010dlg.2_Intron|C18orf19_uc010dli.2_Missense_Mutation_p.A190T|C18orf19_uc002ksj.3_Missense_Mutation_p.A190T|C18orf19_uc010dlj.2_Intron NM_001098801 NP_001092271 Q96ND0 CR019_HUMAN hypothetical protein LOC125228 190 DUF1279. integral to membrane breast(2) 2 AAGGCATATGCTGTGAGGGCA 0.458000 KCTD1 284252 broad.mit.edu 37 18 24035755 24035755 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr18:24035755C>T uc002kvw.2 - 5 1286 c.726G>A c.(724-726)ACG>ACA p.T242T KCTD1_uc010xbj.1_Silent_p.T850T|KCTD1_uc010xbk.1_Silent_p.T242T|KCTD1_uc002kvy.2_3'UTR NM_001136205 NP_001129677 Q719H9 KCTD1_HUMAN potassium channel tetramerisation domain 242 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|voltage-gated potassium channel complex transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity ovary(1) 1 all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848) Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05) GTACACGGGGCGTCCGCCTCA 0.507000 CDH2 1000 broad.mit.edu 37 18 25572682 25572682 + Silent SNP A A G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr18:25572682A>G uc002kwg.2 - 9 1740 c.1281T>C c.(1279-1281)CCT>CCC p.P427P CDH2_uc010xbn.1_Silent_p.P396P NM_001792 NP_001783 P19022 CADH2_HUMAN cadherin 2, type 1 preproprotein 427 Extracellular (Potential).|Cadherin 3. adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding ovary(3)|lung(1) 4 ACCGTCCAGTAGGATCTCCGC 0.522000 C18orf34 374864 broad.mit.edu 37 18 30554568 30554568 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr18:30554568C>T uc002kxn.2 - 21 2608 c.2466G>A c.(2464-2466)AGG>AGA p.R822R C18orf34_uc010xbq.1_RNA|C18orf34_uc010dme.1_Silent_p.R286R|C18orf34_uc010xbr.1_Silent_p.R846R|C18orf34_uc010dmf.1_Silent_p.R142R|C18orf34_uc002kxo.2_Silent_p.R784R|C18orf34_uc002kxp.2_Silent_p.R822R NM_001105528 NP_001098998 Q5BJE1 CR034_HUMAN hypothetical protein LOC374864 isoform 1 822 ovary(1) 1 AGTTGGCCAGCCTCATCTGGC 0.498000 SLC14A2 8170 broad.mit.edu 37 18 43262295 43262295 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr18:43262295G>A uc010dnj.2 + 21 2895 c.2574G>A c.(2572-2574)CCG>CCA p.P858P SLC14A2_uc002lbe.2_Silent_p.P858P NM_007163 NP_009094 Q15849 UT2_HUMAN solute carrier family 14 (urea transporter), 858 Helical; (Potential). apical plasma membrane|integral to membrane|membrane fraction protein binding|urea transmembrane transporter activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 TTGGATTGCCGCCCTGCACTT 0.532000 DOK6 220164 broad.mit.edu 37 18 67425047 67425047 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr18:67425047G>A uc002lkl.2 + 7 984 c.794G>A c.(793-795)CGC>CAC p.R265H NM_152721 NP_689934 Q6PKX4 DOK6_HUMAN docking protein 6 265 DKFBH motif. insulin receptor binding upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 Colorectal(73;0.083)|Esophageal squamous(42;0.131) TCTCTTCCTCGCAGCGCGTAC 0.398000 GALR1 2587 broad.mit.edu 37 18 74963015 74963015 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr18:74963015G>A uc002lms.3 + 1 1008 c.511G>A c.(511-513)GCC>ACC p.A171T NM_001480 NP_001471 P47211 GALR1_HUMAN galanin receptor 1 171 Helical; Name=4; (Potential). digestion|negative regulation of adenylate cyclase activity integral to membrane|plasma membrane galanin receptor activity lung(1) 1 Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211) OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104) CTCGCCCGTGGCCTACCACCA 0.697000 SALL3 27164 broad.mit.edu 37 18 76757125 76757125 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr18:76757125G>A uc002lmt.2 + 3 3706 c.3706G>A c.(3706-3708)GGC>AGC p.G1236S SALL3_uc010dra.2_Missense_Mutation_p.G771S NM_171999 NP_741996 Q9BXA9 SALL3_HUMAN sal-like 3 1236 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|large_intestine(1)|central_nervous_system(1) 4 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) CATCCAGAACGGCGGCATCCC 0.617000 C19orf28 126321 broad.mit.edu 37 19 3546376 3546376 + Missense_Mutation SNP C C A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr19:3546376C>A uc002lxz.2 - 7 1241 c.1071G>T c.(1069-1071)TGG>TGT p.W357C C19orf28_uc002lxw.2_Missense_Mutation_p.W357C|C19orf28_uc002lxx.2_Missense_Mutation_p.W357C|C19orf28_uc002lxy.2_Missense_Mutation_p.W348C NM_174983 NP_778148 Q6NUT3 CS028_HUMAN hypothetical protein LOC126321 isoform c 357 Helical; (Potential). transmembrane transport integral to membrane breast(1)|pancreas(1) 2 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00251)|STAD - Stomach adenocarcinoma(1328;0.18) CCAGCGCCACCCAGGCGGCAA 0.687000 PLIN4 729359 broad.mit.edu 37 19 4504766 4504766 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr19:4504766C>T uc002mar.1 - 6 3779 c.3779G>A c.(3778-3780)TGC>TAC p.C1260Y PLIN4_uc010dub.1_Missense_Mutation_p.C284Y NM_001080400 NP_001073869 Q96Q06 PLIN4_HUMAN plasma membrane associated protein, S3-12 1260 lipid particle|plasma membrane 0 GAGAAGGCCGCAGACCCTGGA 0.721000 PTPRS 5802 broad.mit.edu 37 19 5240270 5240270 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr19:5240270C>T uc002mbv.2 - 12 1878 c.1644G>A c.(1642-1644)CCG>CCA p.P548P PTPRS_uc002mbu.1_Silent_p.P535P|PTPRS_uc010xin.1_Silent_p.P535P|PTPRS_uc002mbw.2_Silent_p.P535P|PTPRS_uc002mbx.2_Silent_p.P539P|PTPRS_uc002mby.2_Silent_p.P535P NM_002850 NP_002841 Q13332 PTPRS_HUMAN protein tyrosine phosphatase, receptor type, 548 Extracellular (Potential).|Fibronectin type-III 3. cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity large_intestine(2)|ovary(1)|central_nervous_system(1) 4 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) TCTCCTGCCGCGGGGGGCTCC 0.697000 SH2D3A 10045 broad.mit.edu 37 19 6760769 6760769 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr19:6760769C>T uc002mft.2 - 3 493 c.299G>A c.(298-300)CGC>CAC p.R100H SH2D3A_uc010xjg.1_Intron NM_005490 NP_005481 Q9BRG2 SH23A_HUMAN SH2 domain containing 3A 100 SH2. JNK cascade|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(2) 2 GGACAGTGGGCGCCTGCCTGT 0.632000 EMR1 2015 broad.mit.edu 37 19 6924840 6924840 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr19:6924840C>T uc002mfw.2 + 15 1981 c.1943C>T c.(1942-1944)GCG>GTG p.A648V EMR1_uc010dvc.2_Intron|EMR1_uc010dvb.2_Missense_Mutation_p.A596V|EMR1_uc010xji.1_Missense_Mutation_p.A507V|EMR1_uc010xjj.1_Missense_Mutation_p.A471V NM_001974 NP_001965 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone 648 Helical; Name=2; (Potential). cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(3)|lung(1)|skin(1) 5 all_hematologic(4;0.166) CTCCTCTTGGCGAAGACTCTC 0.493000 PNPLA6 10908 broad.mit.edu 37 19 7607530 7607530 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr19:7607530G>A uc010xjq.1 + 13 1558 c.1363G>A c.(1363-1365)GGG>AGG p.G455R PNPLA6_uc002mgq.1_Missense_Mutation_p.G407R|PNPLA6_uc010xjp.1_Missense_Mutation_p.G407R|PNPLA6_uc002mgr.1_Missense_Mutation_p.G407R|PNPLA6_uc002mgs.2_Missense_Mutation_p.G446R NM_006702 NP_006693 Q8IY17 PLPL6_HUMAN neuropathy target esterase isoform b 446 Cytoplasmic (Potential). cell death|lipid catabolic process|phosphatidylcholine metabolic process endoplasmic reticulum membrane|integral to membrane lysophospholipase activity ovary(3) 3 AGAGGCCTCCGGGGGGTCCCT 0.706000 MUC16 94025 broad.mit.edu 37 19 9085173 9085173 + Silent SNP A A G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr19:9085173A>G uc002mkp.2 - 1 6846 c.6642T>C c.(6640-6642)AAT>AAC p.N2214N NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 2214 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TTGTTTCTGTATTAGTAGTTG 0.473000 MUC16 94025 broad.mit.edu 37 19 9090794 9090794 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr19:9090794C>T uc002mkp.2 - 1 1225 c.1021G>A c.(1021-1023)GAA>AAA p.E341K NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 341 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 CTGACCCTTTCGGCACTTGTT 0.522000 LPPR2 64748 broad.mit.edu 37 19 11468409 11468409 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr19:11468409C>T uc002mre.1 + 3 397 c.60C>T c.(58-60)TTC>TTT p.F20F LPPR2_uc002mrf.1_Silent_p.F20F|LPPR2_uc010dxy.1_5'Flank NM_022737 NP_073574 Q96GM1 LPPR2_HUMAN lipid phosphate phosphatase-related protein type 20 Helical; (Potential). integral to membrane phosphatidate phosphatase activity large_intestine(1) 1 GCTTTGTCTTCGTGGAGGTGA 0.582000 BRD4 23476 broad.mit.edu 37 19 15383896 15383896 + Silent SNP G G A rs147477529 TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr19:15383896G>A uc002nar.2 - 2 237 c.15C>T c.(13-15)AGC>AGT p.S5S BRD4_uc002nas.2_Silent_p.S5S|BRD4_uc002nat.3_Silent_p.S5S|BRD4_uc002nau.3_Silent_p.S5S NM_058243 NP_490597 O60885 BRD4_HUMAN bromodomain-containing protein 4 isoform long 5 interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle condensed nuclear chromosome|cytoplasm protein binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18) TCCCAGGGCCGCTCTCCGCAG 0.547000 T NUT|C15orf55 lethal midline carcinoma of young people CIB3 117286 broad.mit.edu 37 19 16284237 16284237 + Missense_Mutation SNP T T C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr19:16284237T>C uc002nds.2 - 1 50 c.50A>G c.(49-51)CAG>CGG p.Q17R CIB3_uc010eae.2_5'UTR|CIB3_uc010eaf.2_RNA|CIB3_uc010eag.2_Missense_Mutation_p.Q17R NM_054113 NP_473454 Q96Q77 CIB3_HUMAN DNA-dependent protein kinase catalytic 17 calcium ion binding ovary(1) 1 CCCCTCTACCTGATACGCTTC 0.567000 PIK3R2 5296 broad.mit.edu 37 19 18273240 18273240 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr19:18273240C>T uc002nia.1 + 9 1545 c.1033C>T c.(1033-1035)CGG>TGG p.R345W PIK3R2_uc002nib.1_RNA|PIK3R2_uc010ebi.1_RNA NM_005027 NP_005018 O00459 P85B_HUMAN phosphoinositide-3-kinase, regulatory subunit 2 345 SH2 1. fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway phosphatidylinositol 3-kinase complex GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding lung(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1) 6 CGAGAAACTCCGGGACACTCC 0.612000 NCAN 1463 broad.mit.edu 37 19 19337381 19337381 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr19:19337381G>A uc002nlz.2 + 7 1258 c.1159G>A c.(1159-1161)GTT>ATT p.V387I NCAN_uc010ecc.1_5'UTR NM_004386 NP_004377 O14594 NCAN_HUMAN chondroitin sulfate proteoglycan 3 precursor 387 axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding ovary(4) 4 Epithelial(12;0.00544) GGGGCCCCCAGTTAGAGAACT 0.582000 CILP2 148113 broad.mit.edu 37 19 19656302 19656302 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr19:19656302G>A uc002nmv.3 + 8 3033 c.2948G>A c.(2947-2949)CGT>CAT p.R983H CILP2_uc002nmw.3_Missense_Mutation_p.R989H NM_153221 NP_694953 Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 983 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity ovary(1) 1 GACCCCGAGCGTCCGGGCACC 0.677000 GMIP 51291 broad.mit.edu 37 19 19746260 19746260 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr19:19746260G>A uc002nnd.2 - 15 1641 c.1524C>T c.(1522-1524)TGC>TGT p.C508C GMIP_uc010xrb.1_Silent_p.C482C|GMIP_uc010xrc.1_Silent_p.C479C NM_016573 NP_057657 Q9P107 GMIP_HUMAN GEM interacting protein 508 Phorbol-ester/DAG-type. negative regulation of Rho GTPase activity|small GTPase mediated signal transduction cytosol metal ion binding|protein binding|Rho GTPase activator activity ovary(1) 1 TGAAGGCTTCGCACTCGCGGC 0.622000 ZNF85 7639 broad.mit.edu 37 19 21117776 21117776 + Missense_Mutation SNP A A C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr19:21117776A>C uc002npg.3 + 3 279 c.152A>C c.(151-153)GAC>GCC p.D51A ZNF85_uc002npf.2_RNA|ZNF85_uc002nph.1_RNA|ZNF85_uc010ecn.2_Intron|ZNF85_uc010eco.2_5'Flank|ZNF85_uc002npi.2_5'Flank NM_003429 NP_003420 Q03923 ZNF85_HUMAN zinc finger protein 85 51 KRAB. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding central_nervous_system(1) 1 TCTAAGCCAGACCTGATCACT 0.368000 GAPDHS 26330 broad.mit.edu 37 19 36033284 36033284 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr19:36033284C>T uc002oaf.1 + 5 629 c.513C>T c.(511-513)GGC>GGT p.G171G uc010eec.1_Intron|uc002oag.2_Intron NM_014364 NP_055179 O14556 G3PT_HUMAN glyceraldehyde-3-phosphate dehydrogenase, 171 gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility cytosol glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|protein binding 0 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) NADH(DB00157) AGTCCACAGGCGTGTACCTCT 0.637000 ZNF567 163081 broad.mit.edu 37 19 37211245 37211245 + Missense_Mutation SNP A A G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr19:37211245A>G uc010xtl.1 + 6 1841 c.1619A>G c.(1618-1620)AAG>AGG p.K540R ZNF567_uc002oeo.1_Missense_Mutation_p.K540R|ZNF567_uc010xtk.1_Missense_Mutation_p.K540R|ZNF567_uc002oep.3_Missense_Mutation_p.K509R|ZNF567_uc002oeq.1_Missense_Mutation_p.K509R NM_152603 NP_689816 Q8N184 ZN567_HUMAN zinc finger protein 567 540 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) GAATGTGGGAAGTCCTTTCGC 0.408000 LGALS14 56891 broad.mit.edu 37 19 40197860 40197860 + Silent SNP T T C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr19:40197860T>C uc002omg.2 + 3 358 c.135T>C c.(133-135)GAT>GAC p.D45D LGALS14_uc002omf.2_Silent_p.D74D NM_020129 NP_064514 Q8TCE9 PPL13_HUMAN lectin, galactoside-binding, soluble, 14 isoform 45 Galectin. nucleus sugar binding ovary(1)|skin(1) 2 all_cancers(60;4.39e-06)|all_lung(34;6.76e-08)|Lung NSC(34;7.98e-08)|Ovarian(47;0.06) Myeloproliferative disorder(2;0.0741) Epithelial(26;1.08e-24)|OV - Ovarian serous cystadenocarcinoma(5;1.92e-24)|all cancers(26;4.12e-22) CTGGGATGGATGAGGACTCAG 0.488000 FCGBP 8857 broad.mit.edu 37 19 40434210 40434210 + Missense_Mutation SNP A A G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr19:40434210A>G uc002omp.3 - 2 67 c.59T>C c.(58-60)TTG>TCG p.L20S NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 20 extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) CTCCTGGGTCAATCCTGGTTG 0.507000 CIC 23152 broad.mit.edu 37 19 42791717 42791717 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr19:42791717G>A uc002otf.1 + 5 643 c.603G>A c.(601-603)CGG>CGA p.R201R NM_015125 NP_055940 Q96RK0 CIC_HUMAN capicua homolog 201 HMG box. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1) 11 Prostate(69;0.00682) ACCACATCCGGCGGCCCATGA 0.622000 T DUX4 soft tissue sarcoma BCAM 4059 broad.mit.edu 37 19 45317997 45317997 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr19:45317997C>T uc002ozu.2 + 8 1102 c.1058C>T c.(1057-1059)ACG>ATG p.T353M BCAM_uc002ozt.1_Missense_Mutation_p.T353M NM_005581 NP_005572 P50895 BCAM_HUMAN basal cell adhesion molecule isoform 1 353 Extracellular (Potential).|Ig-like C2-type 1. cell-matrix adhesion integral to plasma membrane laminin binding|laminin receptor activity skin(1) 1 Lung NSC(12;0.000789)|all_lung(12;0.00218) Ovarian(192;0.0728)|all_neural(266;0.112) CTCTCCAAGACGCTGGAGCTG 0.672000 GEMIN7 79760 broad.mit.edu 37 19 45593386 45593386 + Missense_Mutation SNP T T C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr19:45593386T>C uc002pap.1 + 3 165 c.14T>C c.(13-15)GTG>GCG p.V5A uc002pas.2_5'Flank|GEMIN7_uc002paq.1_Missense_Mutation_p.V5A|GEMIN7_uc002par.1_Missense_Mutation_p.V5A NM_001007270 NP_001007271 Q9H840 GEMI7_HUMAN gemin 7 5 ncRNA metabolic process|spliceosomal snRNP assembly Cajal body|cytosol|spliceosomal complex protein binding ovary(1) 1 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0131) CAAACTCCAGTGAACATTCCC 0.572000 TRPM4 54795 broad.mit.edu 37 19 49713591 49713591 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr19:49713591G>A uc002pmw.2 + 21 3329 c.3257G>A c.(3256-3258)CGC>CAC p.R1086H TRPM4_uc010emu.2_Missense_Mutation_p.R941H|TRPM4_uc010yak.1_Missense_Mutation_p.R550H|TRPM4_uc002pmx.2_Missense_Mutation_p.R912H|TRPM4_uc010emv.2_Missense_Mutation_p.R971H|TRPM4_uc010yal.1_Missense_Mutation_p.R732H|TRPM4_uc002pmy.2_Missense_Mutation_p.R428H NM_017636 NP_060106 Q8TD43 TRPM4_HUMAN transient receptor potential cation channel, 1086 Cytoplasmic (Potential).|Calmodulin-binding. dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane ATP binding|calcium activated cation channel activity|calmodulin binding ovary(1)|central_nervous_system(1) 2 all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15) all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751) TCCCACTTGCGCCTCCTGCTC 0.622000 PRMT1 3276 broad.mit.edu 37 19 50185189 50185189 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr19:50185189G>A uc010enf.1 + 4 257 c.215G>A c.(214-216)CGC>CAC p.R72H PRMT1_uc002ppc.1_RNA|PRMT1_uc002ppd.2_Missense_Mutation_p.R48H|PRMT1_uc002ppe.2_Missense_Mutation_p.R54H|PRMT1_uc002ppf.2_RNA|PRMT1_uc002ppg.2_Missense_Mutation_p.R19H|PRMT1_uc010yba.1_RNA NM_001536 NP_001527 Q8WUW5 Q8WUW5_HUMAN HMT1 hnRNP methyltransferase-like 2 isoform 1 53 cytoplasm protein methyltransferase activity ovary(1) 1 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012) GACGAGGTGCGCACCCTCACT 0.597000 TSKS 60385 broad.mit.edu 37 19 50266392 50266392 + Missense_Mutation SNP C C A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr19:50266392C>A uc002ppm.2 - 1 124 c.113G>T c.(112-114)AGG>ATG p.R38M NM_021733 NP_068379 Q9UJT2 TSKS_HUMAN testis-specific kinase substrate 38 protein binding large_intestine(1)|skin(1) 2 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145) GCTGGTCACCCTCCGGGGAGC 0.622000 PTOV1 53635 broad.mit.edu 37 19 50360277 50360277 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr19:50360277G>A uc002pqf.1 + 6 774 c.604G>A c.(604-606)GTG>ATG p.V202M PTOV1_uc002ppz.3_RNA|PTOV1_uc002pqb.3_Missense_Mutation_p.V170M|PTOV1_uc002pqa.2_RNA|PTOV1_uc002pqc.1_RNA|PTOV1_uc002pqd.2_RNA|PTOV1_uc002pqe.1_RNA NM_017432 NP_059128 Q86YD1 PTOV1_HUMAN prostate tumor overexpressed 1 202 Interaction with FLOT1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|plasma membrane 0 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132) TGAGGTGCGCGTGCTCATGCT 0.657000 NR1H2 7376 broad.mit.edu 37 19 50882274 50882274 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr19:50882274G>A uc010enw.2 + 8 1042 c.766G>A c.(766-768)GCA>ACA p.A256T NR1H2_uc002prv.3_Intron|NR1H2_uc002prz.3_Intron|NR1H2_uc002psa.3_Missense_Mutation_p.A158T NM_007121 NP_009052 P55055 NR1H2_HUMAN nuclear receptor subfamily 1, group H, member 2 255 Ligand-binding (Potential). negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding 0 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186) GCCCCTGGGCGCAGACCCCCA 0.632000 POLD1 5424 broad.mit.edu 37 19 50905604 50905604 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr19:50905604C>T uc002psb.3 + 6 788 c.732C>T c.(730-732)TAC>TAT p.Y244Y POLD1_uc002psc.3_Silent_p.Y244Y|POLD1_uc010enx.2_RNA|POLD1_uc010eny.2_Silent_p.Y244Y NM_002691 NP_002682 P28340 DPOD1_HUMAN DNA-directed DNA polymerase delta 1 244 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex 3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding upper_aerodigestive_tract(1)|central_nervous_system(1) 2 all_neural(266;0.0571) OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195) TCGCGCCCTACGAGGCCAACG 0.711000 DNA_polymerases_(catalytic_subunits) IGLON5 402665 broad.mit.edu 37 19 51826934 51826934 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr19:51826934C>T uc002pwc.2 + 3 177 c.177C>T c.(175-177)CAC>CAT p.H59H NM_001101372 NP_001094842 A6NGN9 IGLO5_HUMAN IgLON family member 5 precursor 59 Ig-like C2-type 1. extracellular region 0 TCGACGAGCACGTGACCCGCG 0.652000 ZNF480 147657 broad.mit.edu 37 19 52825647 52825647 + Nonsense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr19:52825647C>T uc010ydl.1 + 5 1214 c.1144C>T c.(1144-1146)CAA>TAA p.Q382* ZNF480_uc002pyv.2_Nonsense_Mutation_p.Q305*|ZNF480_uc010ydm.1_Nonsense_Mutation_p.Q339*|ZNF480_uc010epn.2_Nonsense_Mutation_p.Q213*|uc002pyw.1_Intron NM_144684 NP_653285 Q8WV37 ZN480_HUMAN zinc finger protein 480 382 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding large_intestine(1) 1 GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369) GGTCTTTATTCAAAATTCGCA 0.363000 EPN1 29924 broad.mit.edu 37 19 56203248 56203248 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr19:56203248C>T uc002qlw.2 + 7 1233 c.891C>T c.(889-891)GGC>GGT p.G297G EPN1_uc002qlv.2_Silent_p.G272G|EPN1_uc010etd.2_Silent_p.G297G|EPN1_uc002qlx.2_Silent_p.G383G NM_001130072 NP_001123544 Q9Y6I3 EPN1_HUMAN epsin 1 isoform b 297 Ala/Gly/Pro-rich.|8 X 3 AA repeats of [ED]-P-W. endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|cytoplasm|nucleus|plasma membrane lipid binding 0 Colorectal(82;0.00244)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.112) ACCCCTGGGGCGGCCCCCCTG 0.761000 NLRP5 126206 broad.mit.edu 37 19 56539649 56539649 + Missense_Mutation SNP A A C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr19:56539649A>C uc002qmj.2 + 7 2050 c.2050A>C c.(2050-2052)ACC>CCC p.T684P NLRP5_uc002qmi.2_Missense_Mutation_p.T665P NM_153447 NP_703148 P59047 NALP5_HUMAN NACHT, LRR and PYD containing protein 5 684 mitochondrion|nucleolus ATP binding ovary(3)|skin(2)|kidney(1)|central_nervous_system(1) 7 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) CCCAGGAGACACCCTGGACGC 0.547000 ZNF583 147949 broad.mit.edu 37 19 56935314 56935314 + Silent SNP T T G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr19:56935314T>G uc010ygl.1 + 5 1452 c.1287T>G c.(1285-1287)GTT>GTG p.V429V ZNF583_uc002qnc.2_Silent_p.V429V|ZNF583_uc010ygm.1_Silent_p.V429V NM_001159860 NP_001153332 Q96ND8 ZN583_HUMAN zinc finger protein 583 429 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0564) ATCAGAGGGTTCATACTGGAG 0.393000 PQLC3 130814 broad.mit.edu 37 2 11315100 11315100 + Missense_Mutation SNP T T C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr2:11315100T>C uc002rbc.2 + 6 615 c.482T>C c.(481-483)ATA>ACA p.I161T PQLC3_uc010yjk.1_Intron NM_152391 NP_689604 Q8N755 PQLC3_HUMAN PQ loop repeat containing 3 precursor 161 integral to membrane 0 all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.0978)|OV - Ovarian serous cystadenocarcinoma(76;0.132) ACAGCAAGAATAATCACAACC 0.333000 GREB1 9687 broad.mit.edu 37 2 11742628 11742628 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr2:11742628G>A uc002rbk.1 + 17 2926 c.2626G>A c.(2626-2628)GAT>AAT p.D876N GREB1_uc002rbo.1_Missense_Mutation_p.D510N NM_014668 NP_055483 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 876 integral to membrane ovary(1) 1 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) GCTCAGATACGATAGCTCCTT 0.438000 DNMT3A 1788 broad.mit.edu 37 2 25467502 25467502 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr2:25467502G>A uc002rgc.2 - 14 1831 c.1574C>T c.(1573-1575)GCG>GTG p.A525V DNMT3A_uc002rgd.2_Missense_Mutation_p.A525V|DNMT3A_uc010eyi.2_RNA|DNMT3A_uc002rgb.2_Missense_Mutation_p.A336V NM_022552 NP_072046 Q9Y6K1 DNM3A_HUMAN DNA cytosine methyltransferase 3 alpha isoform 525 Interaction with the PRC2/EED-EZH2 complex (By similarity).|ADD. regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding haematopoietic_and_lymphoid_tissue(133)|lung(4)|ovary(3) 140 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GTACTGGTACGCACACTCCAG 0.617000 Mis|F|N|S AML FBXO11 80204 broad.mit.edu 37 2 48046138 48046138 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr2:48046138C>T uc010fbl.2 - 15 1739 c.1625G>A c.(1624-1626)AGC>AAC p.S542N FBXO11_uc002rwe.2_Missense_Mutation_p.S542N|FBXO11_uc002rwf.2_Missense_Mutation_p.S542N|FBXO11_uc002rwg.1_Missense_Mutation_p.S542N|FBXO11_uc010fbk.2_Missense_Mutation_p.S50N NM_025133 NP_079409 Q86XK2 FBX11_HUMAN F-box only protein 11 isoform 1 626 PbH1 11. ubiquitin-dependent protein catabolic process cytoplasm|nucleolus|ubiquitin ligase complex protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|lung(1) 2 Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) TACTGGAGTGCTGCCAGTTGT 0.428000 USP34 9736 broad.mit.edu 37 2 61430387 61430387 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr2:61430387G>A uc002sbe.2 - 75 9418 c.9396C>T c.(9394-9396)GAC>GAT p.D3132D USP34_uc002sbd.2_Intron NM_014709 NP_055524 Q70CQ2 UBP34_HUMAN ubiquitin specific protease 34 3132 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1) 19 Epithelial(17;0.229) GATCATAAACGTCATCTTTGC 0.313000 HSPC159 29094 broad.mit.edu 37 2 64683599 64683599 + Missense_Mutation SNP G G T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr2:64683599G>T uc002scy.3 + 4 728 c.375G>T c.(373-375)AGG>AGT p.R125S NM_014181 NP_054900 Q3ZCW2 LEGL_HUMAN galectin-related protein 125 Galectin. intracellular sugar binding 0 AGCCATTCAGGGTGAGTACCT 0.502000 FBXO41 150726 broad.mit.edu 37 2 73491512 73491512 + Missense_Mutation SNP C C A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr2:73491512C>A uc002sjb.1 - 6 1883 c.1883G>T c.(1882-1884)CGC>CTC p.R628L NM_001080410 NP_001073879 Q8TF61 FBX41_HUMAN F-box protein 41 567 intracellular protein binding|zinc ion binding breast(2)|pancreas(1) 3 CAGCAGTGTGCGCGTGTCCAG 0.632000 MOGS 7841 broad.mit.edu 37 2 74689823 74689823 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr2:74689823C>T uc010ffj.2 - 4 1256 c.1093G>A c.(1093-1095)GCT>ACT p.A365T MOGS_uc010ffh.2_Missense_Mutation_p.A90T|MOGS_uc010yrt.1_Missense_Mutation_p.A246T|MOGS_uc010ffi.2_Missense_Mutation_p.A259T NM_006302 NP_006293 Q13724 MOGS_HUMAN mannosyl-oligosaccharide glucosidase isoform 1 365 Lumenal (Potential). oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane|membrane fraction mannosyl-oligosaccharide glucosidase activity 0 AAGCCTTCAGCATGGCTCTCC 0.577000 HTRA2 27429 broad.mit.edu 37 2 74760069 74760069 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr2:74760069G>A uc002smi.1 + 8 1936 c.1334G>A c.(1333-1335)CGA>CAA p.R445Q HTRA2_uc002smj.1_Missense_Mutation_p.R348Q|HTRA2_uc002smk.1_Missense_Mutation_p.R423Q|HTRA2_uc002sml.1_Missense_Mutation_p.R413Q|HTRA2_uc002smm.1_Missense_Mutation_p.R186Q|HTRA2_uc002smn.1_Missense_Mutation_p.R186Q|LOXL3_uc002smo.1_3'UTR|LOXL3_uc010ffm.1_3'UTR|LOXL3_uc002smp.1_3'UTR|LOXL3_uc002smq.1_3'UTR NM_013247 NP_037379 O43464 HTRA2_HUMAN HtrA serine peptidase 2 isoform 1 preproprotein 445 PDZ. apoptosis|proteolysis|response to stress CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus serine-type endopeptidase activity|unfolded protein binding ovary(1) 1 CGGCGGGGACGAGAAACACTG 0.493000 PROM2 150696 broad.mit.edu 37 2 95954315 95954315 + Missense_Mutation SNP C C T rs35884217 byFrequency TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr2:95954315C>T uc002suh.1 + 22 2552 c.2419C>T c.(2419-2421)CGT>TGT p.R807C PROM2_uc002sui.2_Missense_Mutation_p.R807C|PROM2_uc002suj.2_Missense_Mutation_p.R461C|PROM2_uc002suk.2_Missense_Mutation_p.R807C|PROM2_uc002sul.2_Missense_Mutation_p.R333C|PROM2_uc002sum.2_RNA NM_144707 NP_653308 Q8N271 PROM2_HUMAN prominin 2 precursor 807 Cytoplasmic (Potential). apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane ovary(1) 1 CAAATACTTCCGTCCTATCCG 0.597000 GPR45 11250 broad.mit.edu 37 2 105858611 105858611 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr2:105858611G>A uc002tco.1 + 1 412 c.296G>A c.(295-297)CGC>CAC p.R99H NM_007227 NP_009158 Q9Y5Y3 GPR45_HUMAN G protein-coupled receptor 45 99 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding ovary(1)|breast(1)|central_nervous_system(1) 3 ATCACCGTGCGCTGGCACTTT 0.632000 TGFBRAP1 9392 broad.mit.edu 37 2 105886050 105886050 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr2:105886050C>T uc002tcq.2 - 11 2169 c.2085G>A c.(2083-2085)GCG>GCA p.A695A TGFBRAP1_uc010fjc.2_Silent_p.A464A|TGFBRAP1_uc002tcr.3_Silent_p.A695A NM_004257 NP_004248 Q8WUH2 TGFA1_HUMAN transforming growth factor, beta receptor 695 regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytoplasm|membrane SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding central_nervous_system(1)|skin(1) 2 AGTCCTCGGCCGCTGCAAAGT 0.652000 C2orf40 84417 broad.mit.edu 37 2 106694342 106694342 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr2:106694342G>A uc010fjf.2 + 4 515 c.407G>A c.(406-408)GGC>GAC p.G136D NM_032411 NP_115787 Q9H1Z8 AUGN_HUMAN esophageal cancer related gene 4 protein 136 extracellular region|transport vesicle 0 AGCCCCTACGGCTTTAGGCAT 0.458000 TTL 150465 broad.mit.edu 37 2 113277874 113277874 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr2:113277874C>T uc002thu.2 + 6 1070 c.891C>T c.(889-891)AGC>AGT p.S297S TTL_uc010fkm.1_Intron NM_153712 NP_714923 Q8NG68 TTL_HUMAN tubulin tyrosine ligase 297 TTL. protein modification process ATP binding|tubulin-tyrosine ligase activity 0 Ovarian(717;0.024) BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644) GCCTCCTGAGCGTGGAGCCTG 0.512000 T ETV6 ALL YSK4 80122 broad.mit.edu 37 2 135738842 135738842 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr2:135738842G>A uc002tue.1 - 9 3500 c.3469C>T c.(3469-3471)CCA>TCA p.P1157S YSK4_uc002tuf.1_Missense_Mutation_p.P339S|YSK4_uc010fnc.1_Missense_Mutation_p.P291S|YSK4_uc010fnd.1_Missense_Mutation_p.P1044S|YSK4_uc010zbg.1_Missense_Mutation_p.P289S|YSK4_uc002tuh.3_Missense_Mutation_p.P885S|YSK4_uc002tui.3_3'UTR NM_025052 NP_079328 Q56UN5 YSK4_HUMAN Yeast Sps1/Ste20-related kinase 4 isoform 1 1157 Protein kinase. ATP binding|protein serine/threonine kinase activity stomach(2)|urinary_tract(1)|ovary(1)|breast(1) 5 BRCA - Breast invasive adenocarcinoma(221;0.112) TCAGGCAATGGCCCAAAACGG 0.418000 R3HDM1 23518 broad.mit.edu 37 2 136473119 136473119 + Splice_Site SNP G G T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr2:136473119G>T uc002tuo.2 + 23 3002 c.2632_splice c.e23-1 p.H878_splice R3HDM1_uc010fni.2_Splice_Site_p.H877_splice|R3HDM1_uc002tup.2_Splice_Site_p.H823_splice|R3HDM1_uc010zbh.1_Splice_Site_p.H626_splice NM_015361 NP_056176 Q15032 R3HD1_HUMAN R3H domain containing 1 nucleic acid binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.127) TGTAATTGCAGCACAGCCCTC 0.443000 HNMT 3176 broad.mit.edu 37 2 138771371 138771371 + Missense_Mutation SNP A A G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr2:138771371A>G uc002tvc.2 + 7 698 c.550A>G c.(550-552)AAA>GAA p.K184E HNMT_uc002tvf.2_Missense_Mutation_p.K184E NM_006895 NP_008826 P50135 HNMT_HUMAN histamine N-methyltransferase isoform 1 184 respiratory gaseous exchange cytoplasm histamine N-methyltransferase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.125) Amodiaquine(DB00613)|Histamine Phosphate(DB00667)|Quinacrine(DB01103) CAAGCTGTGGAAAAAGTACGG 0.408000 GALNT13 114805 broad.mit.edu 37 2 154996962 154996962 + Silent SNP T T C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr2:154996962T>C uc002tyr.3 + 4 822 c.255T>C c.(253-255)CTT>CTC p.L85L GALNT13_uc002tyt.3_Silent_p.L85L|GALNT13_uc010foc.1_5'UTR NM_052917 NP_443149 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 85 Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1) 6 AGTTTAACCTTATGGCCAGTG 0.358000 LRP2 4036 broad.mit.edu 37 2 170101424 170101424 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr2:170101424G>A uc002ues.2 - 22 3422 c.3209C>T c.(3208-3210)TCG>TTG p.S1070L LRP2_uc010zdf.1_Missense_Mutation_p.S933L NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 1070 LDL-receptor class A 9.|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) GGTGAACGCCGAAGATGAACA 0.468000 TTC30A 92104 broad.mit.edu 37 2 178483032 178483032 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr2:178483032C>T uc002ulo.2 - 1 663 c.398G>A c.(397-399)AGG>AAG p.R133K NM_152275 NP_689488 Q86WT1 TT30A_HUMAN tetratricopeptide repeat domain 30A 133 cell projection organization cilium binding 0 OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169) CACCAGGCTCCTGGACCCTGG 0.612000 TTN 7273 broad.mit.edu 37 2 179423360 179423360 + Missense_Mutation SNP T T G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr2:179423360T>G uc010zfg.1 - 276 79346 c.79122A>C c.(79120-79122)AAA>AAC p.K26374N uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.K20069N|TTN_uc010zfi.1_Missense_Mutation_p.K20002N|TTN_uc010zfj.1_Missense_Mutation_p.K19877N NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 27301 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTGGGCTTGGTTTTTCTAAGA 0.358000 TTN 7273 broad.mit.edu 37 2 179439680 179439680 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr2:179439680G>A uc010zfg.1 - 275 63699 c.63475C>T c.(63475-63477)CCA>TCA p.P21159S uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P14854S|TTN_uc010zfi.1_Missense_Mutation_p.P14787S|TTN_uc010zfj.1_Missense_Mutation_p.P14662S NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 22086 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GGTGGCCCTGGGATATCATGG 0.448000 TTN 7273 broad.mit.edu 37 2 179447097 179447097 + Missense_Mutation SNP C C T rs72646868 TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr2:179447097C>T uc010zfg.1 - 263 58606 c.58382G>A c.(58381-58383)CGT>CAT p.R19461H uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R13156H|TTN_uc010zfi.1_Missense_Mutation_p.R13089H|TTN_uc010zfj.1_Missense_Mutation_p.R12964H NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 20388 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AGCACAAATACGGAACTGATA 0.473000 TTN 7273 broad.mit.edu 37 2 179499969 179499969 + Missense_Mutation SNP T T C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr2:179499969T>C uc010zfg.1 - 177 34467 c.34243A>G c.(34243-34245)AGC>GGC p.S11415G TTN_uc010zfh.1_Missense_Mutation_p.S5110G|TTN_uc010zfi.1_Missense_Mutation_p.S5043G|TTN_uc010zfj.1_Missense_Mutation_p.S4918G NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 12342 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCATCAAAGCTTGCACTTTCT 0.393000 PLCL1 5334 broad.mit.edu 37 2 198950517 198950517 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr2:198950517C>T uc010fsp.2 + 2 2567 c.2276C>T c.(2275-2277)GCG>GTG p.A759V PLCL1_uc002uuv.3_Missense_Mutation_p.A680V NM_001114661 NP_001108133 Q15111 PLCL1_HUMAN RecName: Full=Inactive phospholipase C-like protein 1; Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein; Short=PRIP; 759 C2. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|skin(1) 2 Quinacrine(DB01103) GGAATTCCAGCGGATTGTTCG 0.418000 ALS2 57679 broad.mit.edu 37 2 202587823 202587823 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr2:202587823G>A uc002uyo.2 - 23 4001 c.3645C>T c.(3643-3645)TCC>TCT p.S1215S ALS2_uc002uyp.3_Silent_p.S1215S|ALS2_uc010ftl.2_RNA NM_020919 NP_065970 Q96Q42 ALS2_HUMAN alsin isoform 1 1215 MORN 7. cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity skin(5)|lung(1)|breast(1) 7 TATCATCTTCGGAAAGCAAAA 0.353000 ABI2 10152 broad.mit.edu 37 2 204267383 204267383 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr2:204267383G>A uc002vaa.2 + 9 1353 c.1118G>A c.(1117-1119)CGC>CAC p.R373H ABI2_uc002uzz.2_Missense_Mutation_p.R306H|ABI2_uc010zih.1_Missense_Mutation_p.R21H|ABI2_uc010zii.1_Missense_Mutation_p.R367H|ABI2_uc010zij.1_Missense_Mutation_p.R250H|ABI2_uc002vab.2_Missense_Mutation_p.R261H|ABI2_uc010zik.1_Missense_Mutation_p.R98H|ABI2_uc010zil.1_Missense_Mutation_p.R208H|ABI2_uc010zim.1_Missense_Mutation_p.R159H|ABI2_uc002vac.2_Missense_Mutation_p.R159H|ABI2_uc010zin.1_Missense_Mutation_p.R21H NM_005759 NP_005750 Q9NYB9 ABI2_HUMAN abl interactor 2 373 Pro-rich. actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation cytoskeleton|cytosol|filopodium|lamellipodium cytoskeletal adaptor activity|DNA binding|kinase binding|proline-rich region binding|SH3 domain binding|ubiquitin protein ligase binding 0 CCCTATAGACGCCCTCCTTCC 0.443000 FASTKD2 22868 broad.mit.edu 37 2 207651571 207651571 + Silent SNP T T A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr2:207651571T>A uc002vbu.2 + 8 1952 c.1542T>A c.(1540-1542)GCT>GCA p.A514A FASTKD2_uc002vbv.2_Silent_p.A514A|FASTKD2_uc002vbx.2_Silent_p.A514A|FASTKD2_uc002vbw.1_Silent_p.A514A NM_001136193 NP_001129665 Q9NYY8 FAKD2_HUMAN FAST kinase domains 2 514 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity ovary(2)|skin(1) 3 LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138) TTCCCCTGGCTCCTTTTAATC 0.398000 CPS1 1373 broad.mit.edu 37 2 211512675 211512675 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr2:211512675G>A uc002vee.3 + 26 3362 c.3230G>A c.(3229-3231)GGC>GAC p.G1077D CPS1_uc010fur.2_Missense_Mutation_p.G1083D|CPS1_uc010fus.2_Missense_Mutation_p.G626D NM_001875 NP_001866 P31327 CPSM_HUMAN carbamoyl-phosphate synthetase 1 isoform b 1077 carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity ovary(8)|central_nervous_system(3)|breast(1)|skin(1) 13 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) AAGATCATGGGCACAAGCCCC 0.507000 MREG 55686 broad.mit.edu 37 2 216809668 216809668 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr2:216809668C>T uc002vfo.2 - 5 859 c.563G>A c.(562-564)CGA>CAA p.R188Q MREG_uc002vfq.2_RNA NM_018000 NP_060470 Q8N565 MREG_HUMAN whn-dependent transcript 2 188 apical plasma membrane 0 Renal(323;0.0328) Epithelial(149;4.64e-07)|all cancers(144;5.56e-05)|LUSC - Lung squamous cell carcinoma(224;0.00832)|Lung(261;0.0111) GGGGTAAGTTCGACGAGCAAG 0.498000 TMEM169 92691 broad.mit.edu 37 2 216964784 216964784 + Nonsense_Mutation SNP C C A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr2:216964784C>A uc010zjr.1 + 4 739 c.413C>A c.(412-414)TCA>TAA p.S138* TMEM169_uc010zjs.1_Nonsense_Mutation_p.S138*|TMEM169_uc002vfw.2_Nonsense_Mutation_p.S138*|TMEM169_uc002vfv.3_Nonsense_Mutation_p.S138* NM_001142310 NP_001135782 Q96HH4 TM169_HUMAN transmembrane protein 169 138 Extracellular (Potential). integral to membrane ovary(1) 1 Renal(323;0.0651) Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCTAAAGAGTCATCAAGGGAA 0.542000 TNS1 7145 broad.mit.edu 37 2 218683363 218683363 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr2:218683363G>A uc002vgt.2 - 24 3778 c.3380C>T c.(3379-3381)GCC>GTC p.A1127V TNS1_uc002vgr.2_Missense_Mutation_p.A1114V|TNS1_uc002vgs.2_Missense_Mutation_p.A1106V|TNS1_uc010zjv.1_Missense_Mutation_p.A1106V NM_022648 NP_072174 Q9HBL0 TENS1_HUMAN tensin 1127 Ser-rich. cytoplasm|cytoskeleton|focal adhesion actin binding ovary(3)|breast(1) 4 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) GTTTCTCTGGGCAGACGGGCT 0.632000 TTLL4 9654 broad.mit.edu 37 2 219603187 219603187 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr2:219603187C>T uc002viy.2 + 3 1158 c.788C>T c.(787-789)CCG>CTG p.P263L TTLL4_uc010zkl.1_Missense_Mutation_p.P98L|TTLL4_uc010fvx.2_Missense_Mutation_p.P263L NM_014640 NP_055455 Q14679 TTLL4_HUMAN tubulin tyrosine ligase-like family, member 4 263 protein polyglutamylation cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity ovary(2)|skin(1) 3 Renal(207;0.0915) Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101) GACTGTGCACCGCAGCCTGTT 0.572000 TRIP12 9320 broad.mit.edu 37 2 230672480 230672480 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr2:230672480G>A uc002vpw.1 - 16 2405 c.2296C>T c.(2296-2298)CGT>TGT p.R766C TRIP12_uc002vpx.1_Missense_Mutation_p.R814C|TRIP12_uc002vpy.1_Missense_Mutation_p.R469C|TRIP12_uc010zlz.1_Intron|TRIP12_uc010fxh.1_Missense_Mutation_p.R772C NM_004238 NP_004229 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 766 WWE. protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1) 9 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) CGATCATCACGCCACTGCCAT 0.433000 ECEL1 9427 broad.mit.edu 37 2 233350780 233350780 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr2:233350780C>T uc002vsv.2 - 2 789 c.584G>A c.(583-585)CGA>CAA p.R195Q ECEL1_uc010fya.1_Missense_Mutation_p.R195Q|ECEL1_uc010fyb.1_5'UTR NM_004826 NP_004817 O95672 ECEL1_HUMAN endothelin converting enzyme-like 1 195 Lumenal (Potential). neuropeptide signaling pathway|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity central_nervous_system(2) 2 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746) CGGGCCCAGTCGCTCGATCTC 0.602000 CHRNG 1146 broad.mit.edu 37 2 233407735 233407735 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr2:233407735G>A uc002vsx.1 + 7 769 c.748G>A c.(748-750)GCC>ACC p.A250T CHRNG_uc010fye.1_Missense_Mutation_p.A198T NM_005199 NP_005190 P07510 ACHG_HUMAN cholinergic receptor, nicotinic, gamma 250 Helical; (Potential). muscle contraction cell junction|postsynaptic membrane acetylcholine receptor activity 0 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086) CAACATCATCGCCCCCTGTGT 0.607000 GIGYF2 26058 broad.mit.edu 37 2 233652024 233652024 + Nonsense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr2:233652024C>T uc002vti.3 + 11 1034 c.697C>T c.(697-699)CGA>TGA p.R233* GIGYF2_uc010zmj.1_Nonsense_Mutation_p.R233*|GIGYF2_uc002vtg.2_Nonsense_Mutation_p.R233*|GIGYF2_uc002vtj.3_Nonsense_Mutation_p.R255*|GIGYF2_uc002vtk.3_Nonsense_Mutation_p.R233*|GIGYF2_uc002vth.3_Nonsense_Mutation_p.R233*|GIGYF2_uc010zmk.1_RNA|GIGYF2_uc010zml.1_Nonsense_Mutation_p.R64* NM_015575 NP_056390 Q6Y7W6 PERQ2_HUMAN GRB10 interacting GYF protein 2 isoform b 233 Arg-rich. cell death protein binding ovary(4)|central_nervous_system(3) 7 Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145) AGAGAGGTGGCGACCTCACAG 0.428000 GPCPD1 56261 broad.mit.edu 37 20 5574004 5574004 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr20:5574004C>T uc002wme.3 - 4 413 c.200G>A c.(199-201)CGC>CAC p.R67H NM_019593 NP_062539 Q9NPB8 GPCP1_HUMAN hypothetical protein LOC56261 67 CBM20. glycerol metabolic process|lipid metabolic process carbohydrate binding|glycerophosphodiester phosphodiesterase activity 0 TTTGAAGTAGCGATACTGAAC 0.353000 KIF16B 55614 broad.mit.edu 37 20 16488691 16488691 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr20:16488691G>A uc002wpg.1 - 7 769 c.611C>T c.(610-612)GCG>GTG p.A204V KIF16B_uc010gch.1_Missense_Mutation_p.A204V|KIF16B_uc010gci.1_Missense_Mutation_p.A204V|KIF16B_uc010gcj.1_Missense_Mutation_p.A204V NM_024704 NP_078980 Q96L93 KI16B_HUMAN kinesin-like motor protein C20orf23 204 Kinesin-motor. 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 GATATTGCCCGCATCCATAAG 0.448000 RRBP1 6238 broad.mit.edu 37 20 17599388 17599388 + Translation_Start_Site SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr20:17599388G>A uc010zrp.1 - 1 1075 c.-168C>T c.(-170--166)CACGG>CATGG RRBP1_uc002wpt.1_Intron|RRBP1_uc002wpu.2_Intron|RRBP1_uc002wpv.1_Intron|RRBP1_uc002wpw.1_Intron|RRBP1_uc010gcl.1_Intron Q9P2E9 RRBP1_HUMAN Homo sapiens mRNA for KIAA1398 protein, partial cds. protein transport|translation|transmembrane transport integral to endoplasmic reticulum membrane|ribosome receptor activity ovary(1) 1 ACCAGTCCCCGTGAGTTAGCG 0.527000 DLGAP4 22839 broad.mit.edu 37 20 35060650 35060650 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr20:35060650G>A uc002xff.2 + 3 965 c.530G>A c.(529-531)GGC>GAC p.G177D DLGAP4_uc010zvp.1_Missense_Mutation_p.G177D NM_014902 NP_055717 Q9Y2H0 DLGP4_HUMAN disks large-associated protein 4 isoform a 177 cell-cell signaling membrane protein binding skin(2)|ovary(1) 3 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) ATGGAGGACGGCAAGGGCCGG 0.642000 TTPAL 79183 broad.mit.edu 37 20 43108886 43108886 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr20:43108886C>T uc002xmc.1 + 3 371 c.247C>T c.(247-249)CGC>TGC p.R83C TTPAL_uc002xmd.1_Missense_Mutation_p.R83C|TTPAL_uc010ggr.1_5'UTR NM_024331 NP_077307 Q9BTX7 TTPAL_HUMAN tocopherol (alpha) transfer protein-like 83 intracellular transporter activity breast(1) 1 CTTCCTGCTGCGCTTCCTCCG 0.567000 ELMO2 63916 broad.mit.edu 37 20 45004410 45004410 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr20:45004410C>T uc002xrt.1 - 12 1037 c.827G>A c.(826-828)CGC>CAC p.R276H ELMO2_uc010zxq.1_Missense_Mutation_p.R8H|ELMO2_uc002xrs.1_Missense_Mutation_p.R23H|ELMO2_uc002xru.1_Missense_Mutation_p.R276H|ELMO2_uc010zxr.1_Missense_Mutation_p.R288H|ELMO2_uc010zxs.1_Missense_Mutation_p.R93H|ELMO2_uc002xrv.1_5'UTR|ELMO2_uc002xrw.2_Missense_Mutation_p.R93H|ELMO2_uc002xrx.1_Missense_Mutation_p.R276H NM_133171 NP_573403 Q96JJ3 ELMO2_HUMAN engulfment and cell motility 2 276 apoptosis|cell chemotaxis|phagocytosis cytoskeleton|cytosol|membrane lyase activity|receptor tyrosine kinase binding|SH3 domain binding ovary(1) 1 Myeloproliferative disorder(115;0.0122) TTTGATGGGGCGGTTCCCTCG 0.478000 ARFGEF2 10564 broad.mit.edu 37 20 47639665 47639665 + Missense_Mutation SNP T T C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr20:47639665T>C uc002xtx.3 + 35 4854 c.4702T>C c.(4702-4704)TTC>CTC p.F1568L ARFGEF2_uc010zyf.1_Missense_Mutation_p.F861L NM_006420 NP_006411 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine 1568 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity breast(3)|upper_aerodigestive_tract(1) 4 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) CAACATTGTGTTCTACCCTGC 0.478000 TAF4 6874 broad.mit.edu 37 20 60578327 60578327 + Missense_Mutation SNP G G T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr20:60578327G>T uc002ybs.2 - 9 2375 c.2375C>A c.(2374-2376)CCT>CAT p.P792H NM_003185 NP_003176 O00268 TAF4_HUMAN TBP-associated factor 4 792 interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(2)|pancreas(1) 3 Breast(26;1e-08) BRCA - Breast invasive adenocarcinoma(19;3.1e-07) TTTCACCACAGGGACTACAAA 0.493000 SLC17A9 63910 broad.mit.edu 37 20 61598711 61598711 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr20:61598711C>T uc002yea.3 + 13 1354 c.1170C>T c.(1168-1170)GGC>GGT p.G390G SLC17A9_uc002ydz.3_Silent_p.G384G|SLC17A9_uc011aap.1_3'UTR NM_022082 NP_071365 Q9BYT1 S17A9_HUMAN vesicular nucleotide transporter SLC17A9 390 exocytosis|transmembrane transport integral to membrane transporter activity ovary(1)|skin(1) 2 TGTGTCTAGGCGGCTACTTGA 0.637000 KRTAP21-1 337977 broad.mit.edu 37 21 32127620 32127620 + Missense_Mutation SNP C C G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr21:32127620C>G uc011adi.1 - 1 77 c.77G>C c.(76-78)TGT>TCT p.C26S NM_181619 NP_853650 Q3LI58 KR211_HUMAN keratin associated protein 21-1 26 intermediate filament breast(1) 1 gccacagccacagccagagcc 0.109000 C21orf45 54069 broad.mit.edu 37 21 33651281 33651281 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr21:33651281G>A uc002ypi.2 - 1 96 c.45C>T c.(43-45)GGC>GGT p.G15G C21orf45_uc011adn.1_Silent_p.G15G NM_018944 NP_061817 Q9NYP9 MS18A_HUMAN chromosome 21 open reading frame 45 15 cell division|CenH3-containing nucleosome assembly at centromere|mitosis chromosome, centromeric region|nucleoplasm 0 ACTCACAGCCGCCAGCGCATC 0.617000 MRAP 56246 broad.mit.edu 37 21 33679016 33679016 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr21:33679016C>T uc002ypj.2 + 4 359 c.172C>T c.(172-174)CTC>TTC p.L58F MRAP_uc002ypk.2_Missense_Mutation_p.L58F|MRAP_uc011ado.1_5'UTR|MRAP_uc002ypl.2_Missense_Mutation_p.L58F|uc002ypm.2_RNA NM_178817 NP_848932 Q8TCY5 MRAP_HUMAN melanocortin 2 receptor accessory protein 58 Helical; (Potential). positive regulation of cAMP biosynthetic process|protein localization at cell surface endoplasmic reticulum|integral to membrane|perinuclear region of cytoplasm|plasma membrane corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding 0 CCTCATCTTGCTCTACATGTC 0.562000 DOPEY2 9980 broad.mit.edu 37 21 37665815 37665815 + Missense_Mutation SNP A A T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr21:37665815A>T uc002yvg.2 + 37 6922 c.6843A>T c.(6841-6843)TTA>TTT p.L2281F DOPEY2_uc011aeb.1_Missense_Mutation_p.L2230F NM_005128 NP_005119 Q9Y3R5 DOP2_HUMAN pad-1-like 2281 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane ovary(1)|central_nervous_system(1) 2 CAAGGATCTTAAAACAACTGG 0.408000 DYRK1A 1859 broad.mit.edu 37 21 38862544 38862544 + Missense_Mutation SNP C C G rs1049784 TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr21:38862544C>G uc002ywk.2 + 6 807 c.732C>G c.(730-732)AAC>AAG p.N244K DYRK1A_uc002ywi.2_Missense_Mutation_p.N244K|DYRK1A_uc002ywj.2_Missense_Mutation_p.N235K|DYRK1A_uc002ywl.2_Missense_Mutation_p.N244K|DYRK1A_uc002ywm.2_Missense_Mutation_p.N244K|DYRK1A_uc011aei.1_Missense_Mutation_p.N5K NM_001396 NP_001387 Q13627 DYR1A_HUMAN dual-specificity tyrosine-(Y)-phosphorylation 244 Protein kinase. nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation nuclear speck ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity ovary(2)|lung(1)|breast(1) 4 TGTCCTACAACCTCTATGACT 0.393000 UBASH3A 53347 broad.mit.edu 37 21 43833294 43833294 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr21:43833294C>T uc002zbe.2 + 4 552 c.516C>T c.(514-516)TTC>TTT p.F172F UBASH3A_uc002zbf.2_Silent_p.F172F|UBASH3A_uc010gpc.2_RNA|UBASH3A_uc010gpd.2_RNA|UBASH3A_uc010gpe.2_Silent_p.F172F NM_018961 NP_061834 P57075 UBS3A_HUMAN ubiquitin associated and SH3 domain containing, 172 cytosol|nucleus ovary(3) 3 TCCGGGAATTCGCCATGACCT 0.622000 RSPH1 89765 broad.mit.edu 37 21 43906511 43906511 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr21:43906511G>A uc002zbg.2 - 4 440 c.335C>T c.(334-336)ACC>ATC p.T112I NM_080860 NP_543136 Q8WYR4 RSPH1_HUMAN testis-specific gene A2 112 MORN 4. meiosis cytosol|nucleus ovary(1) 1 TCCAGTGTAGGTGTCATTATT 0.453000 ITGB2 3689 broad.mit.edu 37 21 46308725 46308725 + Missense_Mutation SNP T T G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr21:46308725T>G uc002zgd.2 - 13 2007 c.1963A>C c.(1963-1965)AAC>CAC p.N655H ITGB2_uc002zge.2_Missense_Mutation_p.N655H|ITGB2_uc002zgf.3_Missense_Mutation_p.N655H|ITGB2_uc011afl.1_Missense_Mutation_p.N577H|ITGB2_uc010gpw.2_Missense_Mutation_p.N598H|ITGB2_uc002zgg.2_Missense_Mutation_p.N655H NM_001127491 NP_001120963 P05107 ITB2_HUMAN integrin, beta 2 precursor 655 Extracellular (Potential). apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation integrin complex glycoprotein binding|protein kinase binding|receptor activity ovary(4)|central_nervous_system(3)|breast(2) 9 Colorectal(79;0.0669) Simvastatin(DB00641) TTCACGGGGTTGTTCGACAGC 0.652000 COL6A1 1291 broad.mit.edu 37 21 47423388 47423388 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr21:47423388C>T uc002zhu.1 + 35 2650 c.2548C>T c.(2548-2550)CGC>TGC p.R850C COL6A1_uc010gqd.1_Missense_Mutation_p.R181C|COL6A1_uc002zhv.1_Missense_Mutation_p.R181C|COL6A1_uc002zhw.1_5'UTR NM_001848 NP_001839 P12109 CO6A1_HUMAN collagen, type VI, alpha 1 precursor 850 C-terminal globular domain.|VWFA 3. axon guidance|cell adhesion|protein heterotrimerization collagen type VI|protein complex platelet-derived growth factor binding ovary(1) 1 all_hematologic(128;0.24) Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649) Palifermin(DB00039) CACCACCAAGCGCTTCGCCAA 0.706000 CHEK2 11200 broad.mit.edu 37 22 29121017 29121017 + Silent SNP G G T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr22:29121017G>T uc003adu.1 - 4 612 c.540C>A c.(538-540)CGC>CGA p.R180R CHEK2_uc003ads.1_Intron|CHEK2_uc010gvh.1_Intron|CHEK2_uc010gvi.1_Silent_p.R180R|CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_RNA|CHEK2_uc010gvk.1_RNA|CHEK2_uc003adt.1_Silent_p.R223R|CHEK2_uc003adv.1_Silent_p.R180R|CHEK2_uc003adw.1_Silent_p.R180R|CHEK2_uc003adx.1_5'UTR|CHEK2_uc003ady.1_Silent_p.R180R|CHEK2_uc003adz.1_Intron NM_007194 NP_009125 O96017 CHK2_HUMAN protein kinase CHK2 isoform a 180 R -> C (in prostate cancer; somatic mutation).|R -> H (in prostate cancer; somatic mutation). cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(17)|stomach(1)|ovary(1)|lung(1) 20 TCAAAGGACGGCGTTTTCCTT 0.348000 F breast Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|CHEK2-associated_cancer ASCC2 84164 broad.mit.edu 37 22 30218382 30218382 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr22:30218382G>A uc003agr.2 - 5 588 c.483C>T c.(481-483)ATC>ATT p.I161I ASCC2_uc003ags.2_RNA|ASCC2_uc003agt.2_Silent_p.I161I|ASCC2_uc011akr.1_Silent_p.I85I NM_032204 NP_115580 Q9H1I8 ASCC2_HUMAN activating signal cointegrator 1 complex subunit 161 regulation of transcription, DNA-dependent|transcription, DNA-dependent 0 OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259) AGAGGTCCAGGATCTTTGGAA 0.473000 MPST 4357 broad.mit.edu 37 22 37420785 37420785 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr22:37420785C>T uc003aqj.2 + 3 941 c.529C>T c.(529-531)CGC>TGC p.R177C MPST_uc003aqi.1_Missense_Mutation_p.R177C|MPST_uc003aqm.2_Missense_Mutation_p.R177C|MPST_uc011amu.1_Missense_Mutation_p.R197C|MPST_uc003aql.2_Missense_Mutation_p.R177C|MPST_uc003aqn.2_Missense_Mutation_p.R177C|MPST_uc003aqo.2_Missense_Mutation_p.R177C NM_001130517 NP_001123989 P25325 THTM_HUMAN mercaptopyruvate sulfurtransferase isoform 2 177 Rhodanese 2. cyanate catabolic process|response to toxin 3-mercaptopyruvate sulfurtransferase activity|thiosulfate sulfurtransferase activity 0 GGAATCCCGGCGCTTCCAGGT 0.682000 MKL1 57591 broad.mit.edu 37 22 40807837 40807837 + Missense_Mutation SNP A A G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr22:40807837A>G uc003ayv.1 - 12 2560 c.2353T>C c.(2353-2355)TCC>CCC p.S785P MKL1_uc003ayw.1_Missense_Mutation_p.S785P|MKL1_uc010gye.1_Missense_Mutation_p.V788A|MKL1_uc010gyf.1_Missense_Mutation_p.S735P NM_020831 NP_065882 Q969V6 MKL1_HUMAN megakaryoblastic leukemia 1 protein 785 Pro-rich. positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent cytoplasm|nucleus actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity ovary(2)|lung(1)|breast(1)|central_nervous_system(1) 5 GCCAGGGGGGACCCACAGACT 0.597000 T RBM15 acute megakaryocytic leukemia RANGAP1 5905 broad.mit.edu 37 22 41676938 41676938 + Silent SNP A A G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr22:41676938A>G uc003azs.2 - 1 1581 c.111T>C c.(109-111)GAT>GAC p.D37D RANGAP1_uc003azt.2_Silent_p.D37D|RANGAP1_uc003azu.2_Silent_p.D37D|RANGAP1_uc011aoz.1_5'Flank NM_002883 NP_002874 P46060 RAGP1_HUMAN Ran GTPase activating protein 1 37 mitotic prometaphase|signal transduction condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole protein binding|Ran GTPase activator activity 0 GAAACTCACCATCTTCTGCAG 0.413000 PARVB 29780 broad.mit.edu 37 22 44514998 44514998 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr22:44514998C>T uc003ben.2 + 4 406 c.354C>T c.(352-354)GGC>GGT p.G118G PARVB_uc003bem.2_Silent_p.G151G|PARVB_uc010gzn.2_Silent_p.G66G|PARVB_uc003beo.2_Silent_p.G81G NM_013327 NP_037459 Q9HBI1 PARVB_HUMAN parvin, beta isoform b 118 CH 1. cell adhesion|cell junction assembly cytoskeleton|cytosol|focal adhesion actin binding 0 Ovarian(80;0.0246)|all_neural(38;0.0423) TGTATGACGGCCAGGTGCTGC 0.597000 PLXNB2 23654 broad.mit.edu 37 22 50726198 50726198 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr22:50726198C>T uc003bkv.3 - 7 1612 c.1506G>A c.(1504-1506)CCG>CCA p.P502P NM_012401 NP_036533 O15031 PLXB2_HUMAN plexin B2 precursor 502 Extracellular (Potential). 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) CCTCGGCCCGCGGACACTCGG 0.716000 LMF2 91289 broad.mit.edu 37 22 50944598 50944598 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr22:50944598C>T uc003blp.2 - 5 671 c.640G>A c.(640-642)GCC>ACC p.A214T LMF2_uc010hba.2_Missense_Mutation_p.A36T|LMF2_uc003blo.2_Missense_Mutation_p.A189T|NCAPH2_uc003blq.3_5'Flank|NCAPH2_uc003blv.2_5'Flank|NCAPH2_uc003blr.3_5'Flank|NCAPH2_uc010hbb.2_5'Flank|NCAPH2_uc003blu.3_5'Flank|NCAPH2_uc003bls.3_5'Flank|NCAPH2_uc003blt.3_5'Flank|NCAPH2_uc003blw.3_5'Flank|NCAPH2_uc003blx.3_5'Flank|NCAPH2_uc003bly.3_5'Flank NM_033200 NP_149977 Q9BU23 LMF2_HUMAN lipase maturation factor 2 214 endoplasmic reticulum membrane|integral to membrane breast(1) 1 all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) GCGAACCAGGCGGCGGGCGTG 0.672000 CAMK1 8536 broad.mit.edu 37 3 9802450 9802450 + Missense_Mutation SNP A A G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr3:9802450A>G uc003bst.2 - 8 813 c.635T>C c.(634-636)CTC>CCC p.L212P OGG1_uc003bsk.2_Intron|OGG1_uc003bsl.2_Intron|OGG1_uc003bsm.2_Intron|OGG1_uc003bsn.2_Intron|OGG1_uc003bso.2_Intron|CAMK1_uc003bsu.2_RNA|CAMK1_uc003bss.2_5'Flank|uc003bsv.1_RNA NM_003656 NP_003647 Q14012 KCC1A_HUMAN calcium/calmodulin-dependent protein kinase I 212 Protein kinase. cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity ovary(1)|skin(1) 2 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.0475) GTAACCGCAGAGCCTGGGCAG 0.557000 CAND2 23066 broad.mit.edu 37 3 12858445 12858445 + Missense_Mutation SNP A A G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr3:12858445A>G uc003bxk.2 + 10 2063 c.2014A>G c.(2014-2016)ACA>GCA p.T672A CAND2_uc003bxj.2_Missense_Mutation_p.T579A NM_001162499 NP_001155971 O75155 CAND2_HUMAN TBP-interacting protein isoform 1 672 HEAT 14. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding skin(3)|pancreas(1) 4 GCGACTGGCCACACTGGCAGC 0.662000 NUP210 23225 broad.mit.edu 37 3 13372104 13372104 + Silent SNP G G T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr3:13372104G>T uc003bxv.1 - 30 4049 c.3966C>A c.(3964-3966)GTC>GTA p.V1322V NM_024923 NP_079199 Q8TEM1 PO210_HUMAN nucleoporin 210 precursor 1322 Lumenal (Probable). carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1) 11 all_neural(104;0.187) GTCCATCCAGGACGCGGTAGC 0.512000 C3orf20 84077 broad.mit.edu 37 3 14744719 14744719 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr3:14744719C>T uc003byy.2 + 6 1232 c.828C>T c.(826-828)AGC>AGT p.S276S C3orf20_uc003byz.2_Silent_p.S154S|C3orf20_uc003bza.2_Silent_p.S154S|C3orf20_uc003byx.1_Silent_p.S276S NM_032137 NP_115513 Q8ND61 CC020_HUMAN hypothetical protein LOC84077 276 cytoplasm|integral to membrane ovary(3)|skin(1) 4 TGGAGTTCAGCGACCCCTGCC 0.597000 GALNTL2 117248 broad.mit.edu 37 3 16237382 16237382 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr3:16237382C>T uc003car.3 + 2 1130 c.655C>T c.(655-657)CCC>TCC p.P219S GALNTL2_uc003caq.3_5'UTR NM_054110 NP_473451 Q8N3T1 GLTL2_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 219 Lumenal (Potential).|Catalytic subdomain A. Golgi membrane|integral to membrane|transport vesicle polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(1) 1 CGACACAGTGCCCAGGGCCTT 0.617000 KAT2B 8850 broad.mit.edu 37 3 20113953 20113953 + Splice_Site SNP T T C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr3:20113953T>C uc003cbq.2 + 2 876 c.430_splice c.e2+2 p.A144_splice NM_003884 NP_003875 Q92831 KAT2B_HUMAN K(lysine) acetyltransferase 2B cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 ATGCCCTAGGTGAGTTCCTAA 0.458000 GPD1L 23171 broad.mit.edu 37 3 32181857 32181857 + Silent SNP C C T rs139369157 by1000genomes TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr3:32181857C>T uc003cew.2 + 4 564 c.504C>T c.(502-504)ATC>ATT p.I168I NM_015141 NP_055956 Q8N335 GPD1L_HUMAN glycerol-3-phosphate dehydrogenase 1-like 168 glycerol-3-phosphate catabolic process glycerol-3-phosphate dehydrogenase complex glycerol-3-phosphate dehydrogenase|NAD binding|protein homodimerization activity 0 AGACCACCATCGGTAAGCACT 0.473000 XIRP1 165904 broad.mit.edu 37 3 39227701 39227701 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr3:39227701C>T uc003cjk.1 - 2 3457 c.3236G>A c.(3235-3237)GGC>GAC p.G1079D XIRP1_uc003cji.2_Missense_Mutation_p.G1079D|XIRP1_uc003cjj.2_Intron NM_194293 NP_919269 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 1079 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) TGGGGTGGGGCCCTGCTTGTG 0.627000 RPL14 9045 broad.mit.edu 37 3 40499484 40499484 + Splice_Site SNP T T C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr3:40499484T>C uc003ckg.2 + 2 156 c.105_splice c.e2+2 p.R35_splice RPL14_uc003ckh.2_Splice_Site_p.R35_splice|RPL14_uc003cki.2_Splice_Site NM_003973 NP_003964 P50914 RL14_HUMAN ribosomal protein L14 endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit protein binding|RNA binding|structural constituent of ribosome 0 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) CAGAACAGGGTAAGTGTCACA 0.483000 EXOSC7 23016 broad.mit.edu 37 3 45038710 45038710 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr3:45038710G>A uc003coi.2 + 4 415 c.386G>A c.(385-387)CGG>CAG p.R129Q EXOSC7_uc003coh.1_Missense_Mutation_p.R64Q|EXOSC7_uc011bae.1_Missense_Mutation_p.R129Q|EXOSC7_uc010his.1_Missense_Mutation_p.R48Q|EXOSC7_uc003coj.2_Missense_Mutation_p.R129Q NM_015004 NP_055819 Q15024 EXOS7_HUMAN exosome component 7 129 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing cytosol|exosome (RNase complex)|nucleolus 3'-5'-exoribonuclease activity|protein binding|RNA binding 0 BRCA - Breast invasive adenocarcinoma(193;0.00911)|KIRC - Kidney renal clear cell carcinoma(197;0.0509)|Kidney(197;0.064) ATTAGTCCTCGGGAGCACTGC 0.473000 CCR2 729230 broad.mit.edu 37 3 46399668 46399668 + Missense_Mutation SNP T T A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr3:46399668T>A uc003cpn.3 + 2 1135 c.650T>A c.(649-651)ATC>AAC p.I217N CCR2_uc003cpm.3_Missense_Mutation_p.I217N NM_001123041 NP_001116513 P41597 CCR2_HUMAN chemokine (C-C motif) receptor 2 isoform A 217 Helical; Name=5; (Potential). astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity lung(1)|breast(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206) CCGCTGCTCATCATGGTCATC 0.468000 COL7A1 1294 broad.mit.edu 37 3 48602300 48602300 + Missense_Mutation SNP A A G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr3:48602300A>G uc003ctz.2 - 117 8735 c.8734T>C c.(8734-8736)TGT>CGT p.C2912R UCN2_uc003cty.1_5'Flank NM_000094 NP_000085 Q02388 CO7A1_HUMAN alpha 1 type VII collagen precursor 2912 Nonhelical region (NC2).|BPTI/Kunitz inhibitor. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity ovary(4)|breast(3)|skin(3)|central_nervous_system(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) TTCCCTCCACAGCCACCATAG 0.657000 RHOA 387 broad.mit.edu 37 3 49412922 49412922 + Missense_Mutation SNP T T C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr3:49412922T>C uc003cwu.2 - 2 377 c.101A>G c.(100-102)TAT>TGT p.Y34C RHOA_uc010hku.2_5'UTR NM_001664 NP_001655 P61586 RHOA_HUMAN ras homolog gene family, member A precursor 34 Effector region (Potential). Y->F: Abolishes AMPylation by Haemophilus IbpA.|Y->A: Abolishes interaction with DGKQ. axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis cytoskeleton|cytosol|plasma membrane GTP binding|GTPase activity|myosin binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) Atorvastatin(DB01076)|Simvastatin(DB00641) TGTGGGCACATACACCTCTGG 0.463000 CDHR4 389118 broad.mit.edu 37 3 49836453 49836453 + Missense_Mutation SNP T T C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr3:49836453T>C uc010hkz.2 - 3 386 c.377A>G c.(376-378)CAG>CGG p.Q126R CDHR4_uc003cxp.2_Missense_Mutation_p.Q126R|CDHR4_uc011bcw.1_Missense_Mutation_p.Q126R NM_001007540 NP_001007541 A6H8M9 CDHR4_HUMAN cadherin-like 29 precursor 126 Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 ACCAGCACACTGGATATGGCT 0.602000 DOCK3 1795 broad.mit.edu 37 3 51196730 51196730 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr3:51196730G>A uc011bds.1 + 11 907 c.884G>A c.(883-885)CGA>CAA p.R295Q NM_004947 NP_004938 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 295 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding 0 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) CATGTGATCCGAATAGGTACT 0.388000 TMEM110 375346 broad.mit.edu 37 3 52883877 52883877 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr3:52883877C>T uc003dge.2 - 4 439 c.358G>A c.(358-360)GTG>ATG p.V120M TMEM110_uc003dgc.3_Missense_Mutation_p.V120M NM_198563 NP_940965 Q86TL2 TM110_HUMAN transmembrane protein 110 120 Helical; (Potential). integral to membrane large_intestine(1) 1 BRCA - Breast invasive adenocarcinoma(193;7.72e-05)|Kidney(197;0.000777)|KIRC - Kidney renal clear cell carcinoma(197;0.000915)|OV - Ovarian serous cystadenocarcinoma(275;0.0541) CGCACCCCCACGTAGATGAGC 0.622000 CACNA1D 776 broad.mit.edu 37 3 53700399 53700399 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr3:53700399C>T uc003dgv.3 + 7 1116 c.953C>T c.(952-954)GCG>GTG p.A318V CACNA1D_uc003dgu.3_Missense_Mutation_p.A318V|CACNA1D_uc003dgy.3_Missense_Mutation_p.A318V|CACNA1D_uc003dgw.3_5'UTR NM_001128840 NP_001122312 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, 318 Extracellular (Potential).|I. axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) GCTCCATGTGCGTTCTCAGGG 0.537000 ERC2 26059 broad.mit.edu 37 3 56044541 56044541 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr3:56044541C>T uc003dhr.1 - 9 2112 c.1856G>A c.(1855-1857)CGA>CAA p.R619Q ERC2_uc003dht.1_Missense_Mutation_p.R90Q NM_015576 NP_056391 O15083 ERC2_HUMAN cytomatrix protein p110 619 Potential. cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) GTTCTCTTTTCGGAAGGATTC 0.393000 ATXN7 6314 broad.mit.edu 37 3 63965643 63965643 + Silent SNP A A G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr3:63965643A>G uc003dlw.3 + 6 1105 c.552A>G c.(550-552)TCA>TCG p.S184S ATXN7_uc003dlv.2_Silent_p.S184S|ATXN7_uc010hnv.2_Silent_p.S184S|ATXN7_uc010hnw.2_Silent_p.S39S|ATXN7_uc011bfn.1_Silent_p.S39S NM_000333 NP_000324 O15265 ATX7_HUMAN ataxin 7 isoform a 184 Ser-rich. cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nuclear matrix|nucleolus protein binding|zinc ion binding 0 Prostate(884;0.0181) BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305) CTCCCACTTCAGTATTTTCCT 0.458000 PDZRN3 23024 broad.mit.edu 37 3 73433966 73433966 + Nonsense_Mutation SNP G G T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr3:73433966G>T uc003dpl.1 - 10 1847 c.1751C>A c.(1750-1752)TCG>TAG p.S584* PDZRN3_uc011bgh.1_Nonsense_Mutation_p.S241*|PDZRN3_uc010hoe.1_Nonsense_Mutation_p.S282*|PDZRN3_uc011bgf.1_Nonsense_Mutation_p.S301*|PDZRN3_uc011bgg.1_Nonsense_Mutation_p.S304* NM_015009 NP_055824 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 584 ubiquitin-protein ligase activity|zinc ion binding pancreas(2)|ovary(2)|skin(2)|large_intestine(1) 7 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) CTCTTGCTCCGAGCTCTCGTC 0.642000 CNTN3 5067 broad.mit.edu 37 3 74474047 74474047 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr3:74474047G>A uc003dpm.1 - 4 483 c.403C>T c.(403-405)CGT>TGT p.R135C NM_020872 NP_065923 Q9P232 CNTN3_HUMAN contactin 3 precursor 135 Ig-like C2-type 2. cell adhesion anchored to membrane|plasma membrane protein binding breast(3)|ovary(1)|skin(1) 5 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) TGGCCTTCACGCACAGACACT 0.398000 ROBO1 6091 broad.mit.edu 37 3 78649287 78649287 + Silent SNP T T C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr3:78649287T>C uc003dqe.2 - 30 5125 c.4917A>G c.(4915-4917)GGA>GGG p.G1639G ROBO1_uc003dqb.2_Silent_p.G1600G|ROBO1_uc003dqc.2_Silent_p.G1539G|ROBO1_uc003dqd.2_Silent_p.G1594G|ROBO1_uc010hoh.2_Silent_p.G831G NM_002941 NP_002932 Q9Y6N7 ROBO1_HUMAN roundabout 1 isoform a 1639 Cytoplasmic (Potential). activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding large_intestine(2) 2 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) TATTATCTTCTCCTCTTTCAT 0.363000 EPHA6 285220 broad.mit.edu 37 3 96962894 96962894 + Missense_Mutation SNP C C G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr3:96962894C>G uc010how.1 + 5 1412 c.1369C>G c.(1369-1371)CTC>GTC p.L457V EPHA6_uc003drp.1_Missense_Mutation_p.L457V NM_001080448 NP_001073917 Q9UF33 EPHA6_HUMAN EPH receptor A6 isoform a 362 Fibronectin type-III 1.|Extracellular (Potential). integral to plasma membrane ATP binding|ephrin receptor activity stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1) 16 GAGAAAAGATCTCACATACAG 0.478000 OR5AC2 81050 broad.mit.edu 37 3 97806749 97806749 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr3:97806749G>A uc011bgs.1 + 1 733 c.733G>A c.(733-735)GCC>ACC p.A245T NM_054106 NP_473447 Q9NZP5 O5AC2_HUMAN olfactory receptor, family 5, subfamily AC, 245 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 CACATGCGGCGCCCATCTGCT 0.423000 HHLA2 11148 broad.mit.edu 37 3 108072517 108072517 + Missense_Mutation SNP A A G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr3:108072517A>G uc003dwy.3 + 4 475 c.308A>G c.(307-309)AAT>AGT p.N103S HHLA2_uc011bhl.1_Intron|HHLA2_uc010hpu.2_Missense_Mutation_p.N103S|HHLA2_uc003dwz.2_Missense_Mutation_p.N103S NM_007072 NP_009003 Q9UM44 HHLA2_HUMAN HERV-H LTR-associating 2 precursor 103 Ig-like V-type 1. integral to membrane ovary(1) 1 CAAAATGGGAATGCGTCGCTA 0.403000 KIAA1524 57650 broad.mit.edu 37 3 108298166 108298166 + Missense_Mutation SNP A A T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr3:108298166A>T uc003dxb.3 - 7 1049 c.780T>A c.(778-780)GAT>GAA p.D260E KIAA1524_uc003dxc.1_Missense_Mutation_p.D101E|KIAA1524_uc010hpw.1_Missense_Mutation_p.D101E NM_020890 NP_065941 Q8TCG1 CIP2A_HUMAN p90 autoantigen 260 cytoplasm|integral to membrane protein binding ovary(2)|central_nervous_system(1) 3 TCTTAAGGAGATCCATCAGTA 0.323000 CCDC80 151887 broad.mit.edu 37 3 112324517 112324517 + Missense_Mutation SNP A A C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr3:112324517A>C uc003dzf.2 - 8 2818 c.2600T>G c.(2599-2601)CTT>CGT p.L867R CCDC80_uc011bhv.1_Missense_Mutation_p.L840R|CCDC80_uc003dzg.2_Missense_Mutation_p.L867R NM_199512 NP_955806 Q76M96 CCD80_HUMAN steroid-sensitive protein 1 precursor 867 ovary(2) 2 TCCGACTAGAAGCATGGAGAA 0.448000 SIDT1 54847 broad.mit.edu 37 3 113320434 113320434 + Splice_Site SNP G G T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr3:113320434G>T uc003eak.2 + 11 1697 c.1046_splice c.e11-1 p.G349_splice SIDT1_uc011bif.1_Splice_Site|SIDT1_uc003eaj.1_Splice_Site_p.G349_splice|SIDT1_uc011big.1_Splice_Site_p.G102_splice|SIDT1_uc011bih.1_5'Flank NM_017699 NP_060169 Q9NXL6 SIDT1_HUMAN SID1 transmembrane family, member 1 precursor integral to membrane ovary(3)|pancreas(1)|skin(1) 5 TTTTTTAACAGGCTCTGGAAA 0.413000 SLC12A8 84561 broad.mit.edu 37 3 124829094 124829094 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr3:124829094C>T uc003ehv.3 - 9 1109 c.998G>A c.(997-999)CGC>CAC p.R333H SLC12A8_uc003ehw.3_Missense_Mutation_p.R362H|SLC12A8_uc003eht.3_Missense_Mutation_p.R134H|SLC12A8_uc003ehu.3_Missense_Mutation_p.R86H|SLC12A8_uc010hry.2_Missense_Mutation_p.R86H NM_024628 NP_078904 A0AV02 S12A8_HUMAN solute carrier family 12, member 8 333 potassium ion transport integral to membrane symporter activity 0 CTGCAGGATGCGGGGAGCTCC 0.507000 TF 7018 broad.mit.edu 37 3 133486949 133486949 + Silent SNP C C T rs34657694 TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr3:133486949C>T uc003epu.1 + 18 3291 c.1563C>T c.(1561-1563)GGC>GGT p.G521G TF_uc011blt.1_Silent_p.G394G|TF_uc003epw.1_Intron|TF_uc003epv.1_Silent_p.G521G NM_001063 NP_001054 P02787 TRFE_HUMAN transferrin precursor 521 Transferrin-like 2. cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule ferric iron binding ovary(1)|skin(1) 2 Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893) TGGGCTCAGGCCTAAACCTGT 0.448000 CHST2 9435 broad.mit.edu 37 3 142840554 142840554 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr3:142840554G>A uc003evm.2 + 2 1785 c.896G>A c.(895-897)CGC>CAC p.R299H NM_004267 NP_004258 Q9Y4C5 CHST2_HUMAN carbohydrate (N-acetylglucosamine-6-O) 299 Lumenal (Potential). inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process integral to membrane|intrinsic to Golgi membrane|trans-Golgi network N-acetylglucosamine 6-O-sulfotransferase activity ovary(3) 3 CGCAAGTACCGCACACTAGTC 0.647000 WWTR1 25937 broad.mit.edu 37 3 149290705 149290705 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr3:149290705C>T uc003exe.2 - 2 530 c.514G>A c.(514-516)GTC>ATC p.V172I WWTR1_uc003exf.2_Missense_Mutation_p.V172I|WWTR1_uc011bns.1_Missense_Mutation_p.V172I|WWTR1_uc003exh.2_Missense_Mutation_p.V172I NM_015472 NP_056287 Q9GZV5 WWTR1_HUMAN WW domain containing transcription regulator 1 172 hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent cytoplasm transcription coactivator activity breast(3)|skin(1) 4 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) GTGGAACTGACGGCAGGGTGG 0.413000 FAM194A 131831 broad.mit.edu 37 3 150403619 150403619 + Silent SNP G G A rs149996868 TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr3:150403619G>A uc003eyg.2 - 6 750 c.693C>T c.(691-693)TTC>TTT p.F231F FAM194A_uc003eyh.2_Silent_p.F85F NM_152394 NP_689607 Q7L0X2 F194A_HUMAN hypothetical protein LOC131831 231 skin(2)|ovary(1) 3 GAGAAGGCTCGAACAGTGTTA 0.383000 PLCH1 23007 broad.mit.edu 37 3 155199080 155199080 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr3:155199080G>A uc011bok.1 - 23 5036 c.4759C>T c.(4759-4761)CGC>TGC p.R1587C PLCH1_uc011boj.1_3'UTR|PLCH1_uc011bol.1_Missense_Mutation_p.R1549C NM_001130960 NP_001124432 Q4KWH8 PLCH1_HUMAN phospholipase C eta 1 isoform a 1587 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity skin(3)|ovary(1) 4 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) GCAATATTGCGCACTCTGCTC 0.512000 PLCH1 23007 broad.mit.edu 37 3 155203278 155203278 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr3:155203278G>A uc011bok.1 - 22 3142 c.2865C>T c.(2863-2865)GGC>GGT p.G955G PLCH1_uc011boj.1_Silent_p.G955G|PLCH1_uc011bol.1_Silent_p.G917G NM_001130960 NP_001124432 Q4KWH8 PLCH1_HUMAN phospholipase C eta 1 isoform a 955 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity skin(3)|ovary(1) 4 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) TCCTCAGCACGCCATCTTGAT 0.522000 TNFSF10 8743 broad.mit.edu 37 3 172241098 172241098 + Missense_Mutation SNP A A C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr3:172241098A>C uc003fid.2 - 1 172 c.77T>G c.(76-78)CTG>CGG p.L26R TNFSF10_uc003fie.2_Missense_Mutation_p.L26R|TNFSF10_uc010hwu.1_RNA NM_003810 NP_003801 P50591 TNF10_HUMAN tumor necrosis factor (ligand) superfamily, 26 Helical; Signal-anchor for type II membrane protein; (Potential). activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction extracellular space|integral to plasma membrane|soluble fraction cytokine activity|metal ion binding|tumor necrosis factor receptor binding skin(4)|lung(1) 5 Ovarian(172;0.00197)|Breast(254;0.158) Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) GAGAGACTGCAGGAGCACTGT 0.547000 PIK3CA 5290 broad.mit.edu 37 3 178936092 178936092 + Missense_Mutation SNP A A G rs121913274 TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr3:178936092A>G uc003fjk.2 + 10 1791 c.1634A>G c.(1633-1635)GAG>GGG p.E545G NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 545 PI3K helical. E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) GAAATCACTGAGCAGGAGAAA 0.353000 E545G(KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545A(AGS_STOMACH) 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) USP13 8975 broad.mit.edu 37 3 179478997 179478997 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr3:179478997C>T uc003fkh.2 + 17 2127 c.2046C>T c.(2044-2046)GGC>GGT p.G682G NM_003940 NP_003931 Q92995 UBP13_HUMAN ubiquitin thiolesterase 13 682 UBA 1. ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding ovary(1) 1 all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148) OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169) GAAATATGGGCGCCGAGGTGG 0.522000 EIF4G1 1981 broad.mit.edu 37 3 184038434 184038434 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr3:184038434C>T uc003fnp.2 + 8 752 c.554C>T c.(553-555)CCA>CTA p.P185L EIF4G1_uc003fno.1_Missense_Mutation_p.P126L|EIF4G1_uc010hxw.1_Missense_Mutation_p.P21L|EIF4G1_uc003fnt.2_5'UTR|EIF4G1_uc003fnq.2_Missense_Mutation_p.P98L|EIF4G1_uc003fnr.2_Missense_Mutation_p.P21L|EIF4G1_uc010hxx.2_Missense_Mutation_p.P192L|EIF4G1_uc003fns.2_Missense_Mutation_p.P145L|EIF4G1_uc010hxy.2_Missense_Mutation_p.P192L|EIF4G1_uc010hxz.1_Missense_Mutation_p.P98L|EIF4G1_uc003fnv.3_Missense_Mutation_p.P185L|EIF4G1_uc003fnu.3_Missense_Mutation_p.P185L|EIF4G1_uc003fnw.2_Missense_Mutation_p.P192L|EIF4G1_uc003fnx.2_5'UTR|EIF4G1_uc003fny.3_5'UTR NM_198241 NP_937884 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 185 PABPC1-binding. DPNQ->AAAA: Loss of PABPC1 binding; when associated with 174-AAAAA-178. insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) ATTCGAGATCCAAACCAAGGA 0.537000 EIF4G1 1981 broad.mit.edu 37 3 184044360 184044360 + Nonsense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr3:184044360C>T uc003fnp.2 + 22 3466 c.3268C>T c.(3268-3270)CGA>TGA p.R1090* EIF4G1_uc003fnt.2_Nonsense_Mutation_p.R801*|EIF4G1_uc003fnq.2_Nonsense_Mutation_p.R1003*|EIF4G1_uc003fnr.2_Nonsense_Mutation_p.R926*|EIF4G1_uc010hxx.2_Nonsense_Mutation_p.R1097*|EIF4G1_uc003fns.2_Nonsense_Mutation_p.R1050*|EIF4G1_uc010hxy.2_Nonsense_Mutation_p.R1097*|EIF4G1_uc003fnv.3_Nonsense_Mutation_p.R1091*|EIF4G1_uc003fnu.3_Nonsense_Mutation_p.R1090*|EIF4G1_uc003fnw.2_Nonsense_Mutation_p.R1097*|EIF4G1_uc003fnx.2_Nonsense_Mutation_p.R895*|EIF4G1_uc003fny.3_Nonsense_Mutation_p.R894*|EIF4G1_uc003foa.2_5'Flank NM_198241 NP_937884 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 1090 insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) ACCTGGAGGGCGACTGAGCTG 0.597000 EPHB3 2049 broad.mit.edu 37 3 184297328 184297328 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr3:184297328G>A uc003foz.2 + 10 2302 c.1865G>A c.(1864-1866)CGG>CAG p.R622Q NM_004443 NP_004434 P54753 EPHB3_HUMAN ephrin receptor EphB3 precursor 622 Cytoplasmic (Potential). integral to plasma membrane ATP binding|ephrin receptor activity lung(5)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|ovary(1) 11 all_cancers(143;1.89e-10)|Ovarian(172;0.0339) Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22) GAGGCTGTTCGGGAGTTTGCC 0.552000 TP63 8626 broad.mit.edu 37 3 189604248 189604248 + Missense_Mutation SNP T T C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr3:189604248T>C uc003fry.2 + 11 1504 c.1415T>C c.(1414-1416)ATG>ACG p.M472T TP63_uc003frz.2_Missense_Mutation_p.M472T|TP63_uc010hzc.1_Missense_Mutation_p.M472T|TP63_uc003fsc.2_Missense_Mutation_p.M378T|TP63_uc003fsd.2_Missense_Mutation_p.M378T|TP63_uc010hzd.1_Missense_Mutation_p.M293T NM_003722 NP_003713 Q9H3D4 P63_HUMAN tumor protein p63 isoform 1 472 anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 12 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) ATGAACAGCATGAACAAGCTG 0.488000 Hay-Wells_syndrome HNSCC(45;0.13) LRRC15 131578 broad.mit.edu 37 3 194081221 194081221 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr3:194081221G>A uc003ftu.2 - 2 638 c.552C>T c.(550-552)AGC>AGT p.S184S LRRC15_uc003ftt.2_Silent_p.S190S NM_130830 NP_570843 Q8TF66 LRC15_HUMAN leucine rich repeat containing 15 isoform b 184 Extracellular (Potential).|LRR 6. integral to membrane ovary(3) 3 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.94e-05) TGTGGGTGAGGCTATTCTTGC 0.572000 MUC4 4585 broad.mit.edu 37 3 195480005 195480005 + Missense_Mutation SNP T T C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr3:195480005T>C uc011bto.1 - 21 15501 c.15041A>G c.(15040-15042)CAG>CGG p.Q5014R MUC4_uc010hzq.2_5'UTR|MUC4_uc003fuz.2_Missense_Mutation_p.Q740R|MUC4_uc003fva.2_Missense_Mutation_p.Q622R|MUC4_uc003fvb.2_Missense_Mutation_p.Q658R|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_Missense_Mutation_p.Q658R|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_Missense_Mutation_p.Q622R|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_Missense_Mutation_p.Q706R|MUC4_uc011bti.1_Missense_Mutation_p.Q706R|MUC4_uc011btj.1_Missense_Mutation_p.Q883R|MUC4_uc011btk.1_Missense_Mutation_p.Q622R|MUC4_uc011btl.1_Missense_Mutation_p.Q651R|MUC4_uc011btm.1_Missense_Mutation_p.Q831R|MUC4_uc011btn.1_Missense_Mutation_p.Q622R|MUC4_uc003fvo.2_Missense_Mutation_p.Q906R|MUC4_uc003fvp.2_Missense_Mutation_p.Q855R NM_018406 NP_060876 Q99102 MUC4_HUMAN mucin 4 isoform a 1899 EGF-like 1. cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity 0 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GCACATGGGCTGACAGCCCAG 0.582000 KIAA1530 57654 broad.mit.edu 37 4 1343557 1343557 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr4:1343557G>A uc003gde.3 + 3 791 c.344G>A c.(343-345)CGG>CAG p.R115Q NM_020894 NP_065945 Q2YD98 K1530_HUMAN hypothetical protein LOC57654 115 0 OV - Ovarian serous cystadenocarcinoma(23;0.0138) GCGACCACCCGGGCCGTGGAA 0.622000 JAKMIP1 152789 broad.mit.edu 37 4 6080672 6080672 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr4:6080672C>T uc003giu.3 - 8 1572 c.1296G>A c.(1294-1296)CCG>CCA p.P432P JAKMIP1_uc010idb.1_Silent_p.P432P|JAKMIP1_uc010idc.1_Intron|JAKMIP1_uc010idd.1_Silent_p.P432P|JAKMIP1_uc011bwc.1_Silent_p.P267P|JAKMIP1_uc003giv.3_Silent_p.P432P|JAKMIP1_uc010ide.2_Silent_p.P432P NM_144720 NP_653321 Q96N16 JKIP1_HUMAN janus kinase and microtubule interacting protein 432 Mediates interaction with TYK2 and GABBR1. protein transport cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex GABA receptor binding|RNA binding large_intestine(1)|pancreas(1)|ovary(1)|skin(1) 4 TCACCTTGGGCGGTTTCAGAC 0.577000 CPZ 8532 broad.mit.edu 37 4 8613861 8613861 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr4:8613861C>T uc003glm.2 + 8 1461 c.1335C>T c.(1333-1335)AAC>AAT p.N445N CPZ_uc003gll.2_RNA|CPZ_uc003gln.2_Silent_p.N308N|CPZ_uc003glo.2_Silent_p.N434N|CPZ_uc003glp.2_RNA NM_001014447 NP_001014447 Q66K79 CBPZ_HUMAN carboxypeptidase Z isoform 1 445 proteolysis|Wnt receptor signaling pathway proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding ovary(2)|pancreas(1) 3 GCATCATCAACGGGGCGGACT 0.413000 SEL1L3 23231 broad.mit.edu 37 4 25849011 25849011 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr4:25849011C>T uc003gru.3 - 2 790 c.638G>A c.(637-639)CGC>CAC p.R213H NM_015187 NP_056002 Q68CR1 SE1L3_HUMAN sel-1 suppressor of lin-12-like 3 213 integral to membrane binding 0 TTTGAAAGGGCGTTCAAAAGG 0.458000 GRXCR1 389207 broad.mit.edu 37 4 42965093 42965093 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr4:42965093G>A uc003gwt.2 + 2 569 c.569G>A c.(568-570)CGA>CAA p.R190Q NM_001080476 NP_001073945 A8MXD5 GRCR1_HUMAN glutaredoxin, cysteine rich 1 190 Glutaredoxin. cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development kinocilium|stereocilium electron carrier activity|protein disulfide oxidoreductase activity ovary(1) 1 GAACGATGCCGACGAGTTTCT 0.428000 ATP10D 57205 broad.mit.edu 37 4 47593216 47593216 + Missense_Mutation SNP T T A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr4:47593216T>A uc003gxk.1 + 23 4263 c.4099T>A c.(4099-4101)TCA>ACA p.S1367T ATP10D_uc003gxl.1_Missense_Mutation_p.S615T NM_020453 NP_065186 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 1367 Cytoplasmic (Potential).|ATP (Potential). ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|pancreas(1) 3 TGCTAACCAATCAGCTGGCAA 0.463000 FRYL 285527 broad.mit.edu 37 4 48545898 48545898 + Missense_Mutation SNP G G C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr4:48545898G>C uc003gyh.1 - 44 6123 c.5518C>G c.(5518-5520)CTC>GTC p.L1840V FRYL_uc003gyg.1_Missense_Mutation_p.L536V|FRYL_uc003gyi.1_Missense_Mutation_p.L728V|FRYL_uc003gyj.1_Missense_Mutation_p.L135V NM_015030 NP_055845 O94915 FRYL_HUMAN furry-like 1840 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding skin(1) 1 GTTGCAGTGAGAGGCTGCTTT 0.443000 SRD5A3 79644 broad.mit.edu 37 4 56233814 56233814 + Missense_Mutation SNP A A G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr4:56233814A>G uc003hau.2 + 4 717 c.622A>G c.(622-624)ATG>GTG p.M208V uc003hav.1_Intron|uc003haw.1_Intron NM_024592 NP_078868 Q9H8P0 PORED_HUMAN steroid 5 alpha-reductase 3 208 Helical; (Potential). androgen biosynthetic process|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|polyprenol catabolic process endoplasmic reticulum membrane|integral to membrane 3-oxo-5-alpha-steroid 4-dehydrogenase activity|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor 0 all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.0179) TCTTGGGATGATGATGTTCAT 0.408000 LPHN3 23284 broad.mit.edu 37 4 62845287 62845287 + Missense_Mutation SNP G G T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr4:62845287G>T uc010ihh.2 + 15 2781 c.2608G>T c.(2608-2610)GAT>TAT p.D870Y LPHN3_uc003hcq.3_Missense_Mutation_p.D870Y|LPHN3_uc003hct.2_Missense_Mutation_p.D263Y NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN latrophilin 3 precursor 857 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1) 18 CCAGCACAGTGATGCGGTCCA 0.418000 BMP2K 55589 broad.mit.edu 37 4 79832739 79832739 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr4:79832739G>A uc003hlk.2 + 16 3204 c.3038G>A c.(3037-3039)CGC>CAC p.R1013H PAQR3_uc003hlm.2_Intron|PAQR3_uc003hln.2_Intron|uc010ijm.1_5'Flank NM_198892 NP_942595 Q9NSY1 BMP2K_HUMAN BMP-2 inducible kinase isoform a 1013 nucleus ATP binding|protein serine/threonine kinase activity lung(1) 1 CCTACCTATCGCACTCCAGAG 0.488000 AFF1 4299 broad.mit.edu 37 4 88035905 88035905 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr4:88035905C>T uc003hqj.3 + 11 2306 c.1899C>T c.(1897-1899)GGC>GGT p.G633G AFF1_uc011ccz.1_Silent_p.G640G|AFF1_uc003hqk.3_Silent_p.G633G|AFF1_uc011cda.1_Silent_p.G271G NM_005935 NP_005926 P51825 AFF1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 633 nucleus sequence-specific DNA binding transcription factor activity breast(1) 1 Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000233) TTCCCTATGGCTCCCGAGACC 0.612000 DSPP 1834 broad.mit.edu 37 4 88535421 88535421 + Missense_Mutation SNP A A G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr4:88535421A>G uc003hqu.2 + 5 1727 c.1607A>G c.(1606-1608)GAC>GGC p.D536G NM_014208 NP_055023 Q9NZW4 DSPP_HUMAN dentin sialophosphoprotein preproprotein 536 Asp/Ser-rich. biomineral tissue development|ossification|skeletal system development proteinaceous extracellular matrix calcium ion binding|collagen binding|extracellular matrix structural constituent central_nervous_system(1) 1 Hepatocellular(203;0.114)|all_hematologic(202;0.236) OV - Ovarian serous cystadenocarcinoma(123;0.000508) GGGAATGATGACAATGACAAA 0.264000 NDST3 9348 broad.mit.edu 37 4 119176867 119176867 + Nonstop_Mutation SNP G G T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr4:119176867G>T uc003ibx.2 + 14 3025 c.2622G>T c.(2620-2622)TAG>TAT p.*874Y NM_004784 NP_004775 O95803 NDST3_HUMAN N-deacetylase/N-sulfotransferase (heparan 874 Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity large_intestine(1) 1 AAGTAAGATAGCACTGAGAGA 0.458000 KIAA1109 84162 broad.mit.edu 37 4 123229133 123229133 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr4:123229133G>A uc003ieh.2 + 56 9916 c.9871G>A c.(9871-9873)GCC>ACC p.A3291T KIAA1109_uc003iel.1_Missense_Mutation_p.A1226T NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 3291 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 TTATAAGGCCGCCTATGACAA 0.353000 FAT4 79633 broad.mit.edu 37 4 126389938 126389938 + Silent SNP A A T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr4:126389938A>T uc003ifj.3 + 11 12171 c.12171A>T c.(12169-12171)GGA>GGT p.G4057G FAT4_uc011cgp.1_Silent_p.G2320G|FAT4_uc003ifi.1_Silent_p.G1535G NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 4057 Laminin G-like 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 TGTCAGATGGACATTTTCACA 0.368000 POU4F2 5458 broad.mit.edu 37 4 147561536 147561536 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr4:147561536G>A uc003ikv.2 + 2 1054 c.806G>A c.(805-807)CGC>CAC p.R269H NM_004575 NP_004566 Q12837 PO4F2_HUMAN Brn3b POU domain transcription factor 269 POU-specific. estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter nuclear speck RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription breast(1) 1 all_hematologic(180;0.151) AAGCAGCGACGCATCAAGCTG 0.687000 SFRP2 6423 broad.mit.edu 37 4 154709838 154709838 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr4:154709838G>A uc003inv.1 - 1 391 c.150C>T c.(148-150)TGC>TGT p.C50C NM_003013 NP_003004 Q96HF1 SFRP2_HUMAN secreted frizzled-related protein 2 precursor 50 FZ. brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development cytoplasm|extracellular matrix|extracellular space|plasma membrane fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding ovary(1)|central_nervous_system(1) 2 all_hematologic(180;0.093) Renal(120;0.117) CGATGCCGTGGCACAGCTGCA 0.647000 DDX60 55601 broad.mit.edu 37 4 169227857 169227857 + Silent SNP C C T rs140161501 TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr4:169227857C>T uc003irp.2 - 5 571 c.279G>A c.(277-279)GCG>GCA p.A93A NM_017631 NP_060101 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 93 ATP binding|ATP-dependent helicase activity|RNA binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) AGTTGAAATACGCATACTCGG 0.363000 C4orf41 60684 broad.mit.edu 37 4 184622881 184622881 + Silent SNP A A G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr4:184622881A>G uc003ivx.2 + 26 3059 c.2883A>G c.(2881-2883)GAA>GAG p.E961E C4orf41_uc003ivw.2_Silent_p.E961E|C4orf41_uc010isc.2_Silent_p.E305E|C4orf41_uc003ivy.2_Silent_p.E567E NM_021942 NP_068761 Q7Z392 CD041_HUMAN hypothetical protein LOC60684 isoform a 961 0 all_lung(41;4.4e-14)|Lung NSC(41;1.03e-13)|Colorectal(36;0.00139)|all_hematologic(60;0.00756)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.202) all cancers(43;1.39e-26)|Epithelial(43;2.42e-22)|OV - Ovarian serous cystadenocarcinoma(60;6.85e-10)|GBM - Glioblastoma multiforme(59;6.71e-06)|Colorectal(24;9.67e-06)|STAD - Stomach adenocarcinoma(60;2.36e-05)|COAD - Colon adenocarcinoma(29;7.07e-05)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.171) GTGCTAGTGAATGCTTTTGTC 0.378000 LPCAT1 79888 broad.mit.edu 37 5 1489881 1489881 + Missense_Mutation SNP A A G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr5:1489881A>G uc003jcm.2 - 4 703 c.586T>C c.(586-588)TCC>CCC p.S196P NM_024830 NP_079106 Q8NF37 PCAT1_HUMAN lysophosphatidylcholine acyltransferase 1 196 Lumenal (Potential). phospholipid biosynthetic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane 1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534) GBM - Glioblastoma multiforme(108;0.156) TTTCCGTTGGACTGCGCCCGT 0.502000 CDH18 1016 broad.mit.edu 37 5 19571802 19571802 + Missense_Mutation SNP G G C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr5:19571802G>C uc003jgc.2 - 7 1516 c.1139C>G c.(1138-1140)CCA>CGA p.P380R CDH18_uc003jgd.2_Missense_Mutation_p.P380R|CDH18_uc011cnm.1_Missense_Mutation_p.P380R NM_004934 NP_004925 Q13634 CAD18_HUMAN cadherin 18, type 2 preproprotein 380 Extracellular (Potential).|Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|large_intestine(1)|skin(1) 7 Lung NSC(1;0.00734)|all_lung(1;0.0197) AAATAGTGGTGGTTCATCTAC 0.423000 RXFP3 51289 broad.mit.edu 37 5 33938026 33938026 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr5:33938026G>A uc003jic.1 + 1 1538 c.1181G>A c.(1180-1182)CGC>CAC p.R394H NM_016568 NP_057652 Q9NSD7 RL3R1_HUMAN relaxin/insulin-like family peptide receptor 3 394 Cytoplasmic (Potential). integral to plasma membrane N-formyl peptide receptor activity upper_aerodigestive_tract(1) 1 CTCGTGCGCCGCGAGTTCCGC 0.632000 UGT3A2 167127 broad.mit.edu 37 5 36049272 36049272 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr5:36049272G>A uc003jjz.1 - 4 655 c.562C>T c.(562-564)CGT>TGT p.R188C UGT3A2_uc011cos.1_Missense_Mutation_p.R154C|UGT3A2_uc011cot.1_Intron NM_174914 NP_777574 Q3SY77 UD3A2_HUMAN UDP glycosyltransferase 3 family, polypeptide A2 188 Extracellular (Potential). integral to membrane glucuronosyltransferase activity ovary(2)|skin(2)|large_intestine(1)|pancreas(1) 6 all_lung(31;0.000179) Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AGCAAGGAACGGAATACTGGA 0.463000 NIPBL 25836 broad.mit.edu 37 5 37006531 37006531 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr5:37006531G>A uc003jkl.3 + 17 4427 c.3928G>A c.(3928-3930)GCT>ACT p.A1310T NIPBL_uc003jkk.3_Missense_Mutation_p.A1310T NM_133433 NP_597677 Q6KC79 NIPBL_HUMAN delangin isoform A 1310 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1) 9 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) ATCAGCGGATGCTTGTCTTAC 0.343000 NUP155 9631 broad.mit.edu 37 5 37314427 37314427 + Missense_Mutation SNP G G T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr5:37314427G>T uc003jku.1 - 22 2427 c.2309C>A c.(2308-2310)GCT>GAT p.A770D NUP155_uc003jkt.1_Missense_Mutation_p.A711D|NUP155_uc010iuz.1_Missense_Mutation_p.A770D NM_153485 NP_705618 O75694 NU155_HUMAN nucleoporin 155kDa isoform 1 770 carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore protein binding|structural constituent of nuclear pore|transporter activity ovary(1) 1 all_lung(31;0.000137) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) ACTTAGTTGAGCCTCTAATGA 0.308000 RGNEF 64283 broad.mit.edu 37 5 73205302 73205302 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr5:73205302C>T uc011csq.1 + 33 4238 c.4227C>T c.(4225-4227)GGC>GGT p.G1409G RGNEF_uc003kcx.2_Silent_p.G1409G|RGNEF_uc010izf.2_Silent_p.G1409G|RGNEF_uc011csr.1_Silent_p.G1096G|RGNEF_uc003kcz.3_Silent_p.G373G|RGNEF_uc003kda.3_Silent_p.G329G NM_001080479 NP_001073948 Q8N1W1 RGNEF_HUMAN Rho-guanine nucleotide exchange factor 1409 cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction cytoplasm|plasma membrane metal ion binding|Rho guanyl-nucleotide exchange factor activity|RNA binding 0 Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;1.25e-51) AGCAGGAGGGCCTGTCTCTCG 0.602000 F2RL2 2151 broad.mit.edu 37 5 75914009 75914009 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr5:75914009C>T uc003kem.2 - 2 708 c.523G>A c.(523-525)GGC>AGC p.G175S IQGAP2_uc003kek.2_Intron|IQGAP2_uc010izv.2_Intron|IQGAP2_uc011csv.1_Intron|IQGAP2_uc003kel.2_Intron|F2RL2_uc011csw.1_Missense_Mutation_p.G153S NM_004101 NP_004092 O00254 PAR3_HUMAN coagulation factor II (thrombin) receptor-like 2 175 Helical; Name=3; (Potential). platelet activation extracellular region|integral to plasma membrane phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity skin(2)|ovary(1) 3 all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129) all cancers(79;4.43e-43) TACATGTTGCCATAGAAGATG 0.512000 VCAN 1462 broad.mit.edu 37 5 82837780 82837780 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr5:82837780C>T uc003kii.3 + 8 9314 c.8958C>T c.(8956-8958)GTC>GTT p.V2986V VCAN_uc003kij.3_Silent_p.V1999V|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Silent_p.V1650V NM_004385 NP_004376 P13611 CSPG2_HUMAN versican isoform 1 precursor 2986 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding ovary(7)|skin(6)|lung(2)|central_nervous_system(1) 16 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) CCTATGGGGTCGAGGCAGGTG 0.488000 GPR98 84059 broad.mit.edu 37 5 90074728 90074728 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr5:90074728G>A uc003kju.2 + 64 12992 c.12896G>A c.(12895-12897)CGA>CAA p.R4299Q GPR98_uc003kjt.2_Missense_Mutation_p.R2005Q|GPR98_uc003kjw.2_5'Flank NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 4299 Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) GGCCATGTGCGACTCTGGTAC 0.453000 NR2F1 7025 broad.mit.edu 37 5 92921019 92921019 + Missense_Mutation SNP A A G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr5:92921019A>G uc003kkj.2 + 1 1977 c.290A>G c.(289-291)CAC>CGC p.H97R NM_005654 NP_005645 P10589 COT1_HUMAN nuclear receptor subfamily 2, group F, member 1 97 NR C4-type.|Nuclear receptor. negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding urinary_tract(1)|ovary(1)|lung(1) 3 all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19) UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18) AGCGGCAAGCACTACGGCCAA 0.632000 LNPEP 4012 broad.mit.edu 37 5 96341852 96341852 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr5:96341852G>A uc003kmv.1 + 10 2375 c.1861G>A c.(1861-1863)GTT>ATT p.V621I LNPEP_uc003kmw.1_Missense_Mutation_p.V607I NM_005575 NP_005566 Q9UIQ6 LCAP_HUMAN leucyl/cystinyl aminopeptidase isoform 1 621 Extracellular (Potential). cell-cell signaling|female pregnancy|proteolysis extracellular region|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding ovary(3)|breast(1) 4 all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244) COAD - Colon adenocarcinoma(37;0.072) TTTAGTGACTGTTCAAAAGAA 0.328000 AQPEP 206338 broad.mit.edu 37 5 115339034 115339034 + Missense_Mutation SNP T T C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr5:115339034T>C uc003kro.2 + 12 2158 c.1994T>C c.(1993-1995)TTA>TCA p.L665S AQPEP_uc003krp.2_RNA|AQPEP_uc003krq.2_RNA|AQPEP_uc003krr.2_RNA|AQPEP_uc003krs.2_RNA NM_173800 NP_776161 Q6Q4G3 AMPQ_HUMAN laeverin 665 Lumenal (Potential). proteolysis integral to membrane metallopeptidase activity|zinc ion binding 0 TATGATAAATTAGGTTGGAAG 0.289000 ANKHD1-EIF4EBP3 404734 broad.mit.edu 37 5 139905707 139905707 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr5:139905707G>A uc003lfs.1 + 26 4743 c.4619G>A c.(4618-4620)AGC>AAC p.S1540N ANKHD1_uc003lfr.2_Missense_Mutation_p.S1540N|ANKHD1_uc003lfu.1_Missense_Mutation_p.S1020N|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.S279N|ANKHD1_uc003lfw.2_Missense_Mutation_p.S178N|ANKHD1_uc010jfl.2_5'UTR|ANKHD1-EIF4EBP3_uc003lfx.1_5'Flank NM_020690 NP_065741 Q8IWZ2 Q8IWZ2_HUMAN ANKHD1-EIF4EBP3 protein 1540 cytoplasm|nucleus RNA binding ovary(6) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACAACTCCCAGCACCAATCGG 0.413000 ANKHD1-EIF4EBP3 404734 broad.mit.edu 37 5 139909045 139909045 + Missense_Mutation SNP G G T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr5:139909045G>T uc003lfs.1 + 29 6638 c.6514G>T c.(6514-6516)GGC>TGC p.G2172C ANKHD1_uc003lfr.2_Missense_Mutation_p.G2172C|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.G911C|ANKHD1_uc003lfw.2_Missense_Mutation_p.G810C|ANKHD1_uc010jfl.2_Missense_Mutation_p.G607C|ANKHD1-EIF4EBP3_uc003lfx.1_Missense_Mutation_p.G309C NM_020690 NP_065741 Q8IWZ2 Q8IWZ2_HUMAN ANKHD1-EIF4EBP3 protein 2172 cytoplasm|nucleus RNA binding ovary(6) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACCACCTCAAGGCCCACCAGC 0.443000 IK 3550 broad.mit.edu 37 5 140039372 140039372 + Silent SNP C C A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr5:140039372C>A uc003lgq.2 + 14 1337 c.1227C>A c.(1225-1227)TCC>TCA p.S409S NM_006083 NP_006074 Q13123 RED_HUMAN RED protein 409 cell-cell signaling|immune response extracellular space|nucleus|soluble fraction large_intestine(1) 1 all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGATCAAGTCCATCAATGAAA 0.468000 PCDHB6 56130 broad.mit.edu 37 5 140531705 140531705 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr5:140531705C>T uc003lir.2 + 1 1867 c.1867C>T c.(1867-1869)CGC>TGC p.R623C PCDHB6_uc011dah.1_Missense_Mutation_p.R487C NM_018939 NP_061762 Q9Y5E3 PCDB6_HUMAN protocadherin beta 6 precursor 623 Cadherin 6.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGGCGAGGTGCGCACCGCCAG 0.687000 FBXO38 81545 broad.mit.edu 37 5 147803681 147803681 + Splice_Site SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr5:147803681G>A uc003lpf.1 + 13 1858 c.1738_splice c.e13+1 p.G580_splice FBXO38_uc003lpg.1_Splice_Site_p.G580_splice|FBXO38_uc003lph.2_Splice_Site_p.G580_splice NM_205836 NP_995308 Q6PIJ6 FBX38_HUMAN F-box protein 38 isoform b cytoplasm|nucleus ovary(4)|skin(2) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAACAAGCAGGTAATCATGTG 0.448000 FABP6 2172 broad.mit.edu 37 5 159659135 159659135 + Missense_Mutation SNP G G A rs17856662 TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr5:159659135G>A uc003lya.1 + 2 226 c.98G>A c.(97-99)CGC>CAC p.R33H FABP6_uc003lxx.1_Missense_Mutation_p.R82H|FABP6_uc003lxz.1_Missense_Mutation_p.R82H NM_001445 NP_001436 P51161 FABP6_HUMAN gastrotropin isoform 2 33 bile acid and bile salt transport|bile acid metabolic process|negative regulation of cell proliferation cytosol transporter activity 0 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.116) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GAAAAGGCCCGCAACTTCAAG 0.537000 GABRA6 2559 broad.mit.edu 37 5 161128599 161128599 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr5:161128599G>A uc003lyu.2 + 9 1520 c.1182G>A c.(1180-1182)GCG>GCA p.A394A GABRA6_uc003lyv.2_Silent_p.A165A NM_000811 NP_000802 Q16445 GBRA6_HUMAN gamma-aminobutyric acid A receptor, alpha 6 394 Cytoplasmic (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TCACGAGAGCGCCCATCTTAC 0.473000 TCGA Ovarian(5;0.080) DOCK2 1794 broad.mit.edu 37 5 169174437 169174437 + Missense_Mutation SNP T T A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr5:169174437T>A uc003maf.2 + 23 2385 c.2305T>A c.(2305-2307)TCC>ACC p.S769T DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.S261T NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 769 actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding ovary(5)|pancreas(2) 7 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GTTTGAAGAATCCATGAGACG 0.358000 UIMC1 51720 broad.mit.edu 37 5 176333041 176333041 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr5:176333041G>A uc011dfp.1 - 14 2087 c.1920C>T c.(1918-1920)GAC>GAT p.D640D UIMC1_uc003mfc.1_Silent_p.D517D|UIMC1_uc003mfd.1_Silent_p.D270D NM_016290 NP_057374 Q96RL1 UIMC1_HUMAN ubiquitin interaction motif containing 1 640 double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent BRCA1-A complex histone binding|K63-linked polyubiquitin binding ovary(3)|skin(1) 4 all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806) Medulloblastoma(196;0.0145)|all_neural(177;0.0325) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AAGACTTGATGTCTGCATCTG 0.418000 F13A1 2162 broad.mit.edu 37 6 6266932 6266932 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr6:6266932G>A uc003mwv.2 - 4 553 c.430C>T c.(430-432)CGG>TGG p.R144W F13A1_uc011dib.1_Missense_Mutation_p.R81W NM_000129 NP_000120 P00488 F13A_HUMAN coagulation factor XIII A1 subunit precursor 144 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1) 6 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) ATGGACAGCCGCACAGACCTG 0.512000 HIVEP1 3096 broad.mit.edu 37 6 12122709 12122709 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr6:12122709G>A uc003nac.2 + 4 2860 c.2681G>A c.(2680-2682)CGT>CAT p.R894H HIVEP1_uc011diq.1_RNA NM_002114 NP_002105 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer 894 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) GGGCATCCCCGTACACTTGTG 0.478000 GFOD1 54438 broad.mit.edu 37 6 13486905 13486905 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr6:13486905G>A uc003nat.1 - 1 883 c.218C>T c.(217-219)CCG>CTG p.P73L GFOD1_uc003nas.1_5'Flank|C6orf114_uc003nav.2_5'Flank NM_018988 NP_061861 Q9NXC2 GFOD1_HUMAN glucose-fructose oxidoreductase domain 73 extracellular region binding|oxidoreductase activity ovary(2) 2 Breast(50;0.0296)|Ovarian(93;0.0454) all_hematologic(90;0.135) Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108) GGTGAGGGGCGGCGGCAGGTT 0.592000 TRIM26 7726 broad.mit.edu 37 6 30166571 30166571 + Nonsense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr6:30166571G>A uc003npr.2 - 3 519 c.310C>T c.(310-312)CGA>TGA p.R104* TRIM26_uc003nps.2_Nonsense_Mutation_p.R104*|TRIM26_uc010jry.2_5'UTR|TRIM26_uc003npt.2_Nonsense_Mutation_p.R104*|TRIM26_uc003npu.1_Nonsense_Mutation_p.R104* NM_003449 NP_003440 Q12899 TRI26_HUMAN tripartite motif-containing 26 104 B box-type. DNA binding|zinc ion binding ovary(2)|lung(1) 3 TCTCGGTGTCGCTCGCACAAC 0.642000 MDC1 9656 broad.mit.edu 37 6 30670948 30670948 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr6:30670948C>T uc003nrg.3 - 12 6238 c.5798G>A c.(5797-5799)CGG>CAG p.R1933Q MDC1_uc003nrf.3_Missense_Mutation_p.R564Q NM_014641 NP_055456 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 1933 BRCT 1.|Required for nuclear localization (NLS2). cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|ovary(1)|kidney(1) 4 CTTGACTGTCCGGCGGATGCG 0.627000 Other_conserved_DNA_damage_response_genes HLA-DRA 3122 broad.mit.edu 37 6 32410444 32410444 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr6:32410444G>A uc003obh.2 + 2 383 c.302G>A c.(301-303)CGC>CAC p.R101H HLA-DRA_uc003obi.2_Missense_Mutation_p.R101H NM_019111 NP_061984 P01903 DRA_HUMAN major histocompatibility complex, class II, DR 101 Extracellular (Potential).|Alpha-1. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity ovary(1)|skin(1) 2 ATGACAAAGCGCTCCAACTAT 0.483000 T-cell_Lymphoma_(Cutaneous)__Familial_Clustering_of|Kaposi_Sarcoma_Familial_Clustering_of HLA-DPB1 3115 broad.mit.edu 37 6 33052994 33052994 + Missense_Mutation SNP T T C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr6:33052994T>C uc003ocu.1 + 3 691 c.632T>C c.(631-633)GTC>GCC p.V211A HLA-DPB1_uc011dqo.1_RNA|HLA-DPB1_uc011dqp.1_Missense_Mutation_p.V210A|HLA-DPB1_uc011dqq.1_Missense_Mutation_p.V107A NM_002121 NP_002112 P04440 DPB1_HUMAN major histocompatibility complex, class II, DP 211 Beta-2.|Ig-like C1-type.|Extracellular (Potential). antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex ovary(1) 1 GATAGTCCTGTCACCGTGGAG 0.567000 ZBTB22 9278 broad.mit.edu 37 6 33283621 33283621 + Missense_Mutation SNP A A G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr6:33283621A>G uc003oeb.2 - 2 1225 c.1073T>C c.(1072-1074)ATA>ACA p.I358T TAPBP_uc003odx.1_5'Flank|TAPBP_uc010jus.1_5'Flank|TAPBP_uc003ody.2_5'Flank|TAPBP_uc003odz.2_5'Flank|TAPBP_uc010jut.1_5'Flank|TAPBP_uc011drc.1_5'Flank|ZBTB22_uc010juu.2_Missense_Mutation_p.I358T NM_005453 NP_005444 O15209 ZBT22_HUMAN zinc finger and BTB domain containing 22 358 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GACATCACTTATGCTGAGGGT 0.567000 SYNGAP1 8831 broad.mit.edu 37 6 33411173 33411173 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr6:33411173C>T uc011dri.1 + 15 3039 c.2844C>T c.(2842-2844)GGC>GGT p.G948G SYNGAP1_uc010juy.2_Silent_p.G919G|SYNGAP1_uc010juz.2_Silent_p.G660G NM_006772 NP_006763 Q96PV0 SYGP1_HUMAN synaptic Ras GTPase activating protein 1 948 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity|SH3 domain binding ovary(4) 4 ATGGAGGGGGCGGTGGCCATG 0.557000 ITPR3 3710 broad.mit.edu 37 6 33631536 33631536 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr6:33631536C>T uc011drk.1 + 11 1246 c.1027C>T c.(1027-1029)CGC>TGC p.R343C NM_002224 NP_002215 Q14573 ITPR3_HUMAN inositol 1,4,5-triphosphate receptor, type 3 343 MIR 4.|Cytoplasmic (Potential). activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1) 19 CCGCACAGGCCGCAGGAATGC 0.592000 PPARD 5467 broad.mit.edu 37 6 35392202 35392202 + Missense_Mutation SNP A A G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr6:35392202A>G uc003okm.2 + 7 1033 c.724A>G c.(724-726)AGC>GGC p.S242G PPARD_uc003okl.2_Missense_Mutation_p.S242G|PPARD_uc003okn.2_Missense_Mutation_p.S242G|PPARD_uc011dtb.1_Missense_Mutation_p.S203G|PPARD_uc011dtc.1_Missense_Mutation_p.S144G NM_006238 NP_006229 Q03181 PPARD_HUMAN peroxisome proliferative activated receptor, 242 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) CAAGGAGATCAGCGTGCACGT 0.587000 FGD2 221472 broad.mit.edu 37 6 36982747 36982747 + Missense_Mutation SNP T T A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr6:36982747T>A uc010jwp.1 + 8 1133 c.962T>A c.(961-963)CTC>CAC p.L321H FGD2_uc003ong.2_Missense_Mutation_p.L43H|FGD2_uc011dtv.1_5'UTR|FGD2_uc003oni.1_Missense_Mutation_p.L127H NM_173558 NP_775829 Q7Z6J4 FGD2_HUMAN FYVE, RhoGEF and PH domain containing 2 321 PH 1. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding upper_aerodigestive_tract(1)|lung(1)|pancreas(1) 3 AACACCCTGCTCCGTGAGGGC 0.632000 TRERF1 55809 broad.mit.edu 37 6 42204045 42204045 + Missense_Mutation SNP C C A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr6:42204045C>A uc003osd.2 - 16 3527 c.2964G>T c.(2962-2964)GAG>GAT p.E988D TRERF1_uc011duq.1_Missense_Mutation_p.E905D|TRERF1_uc003osb.2_Missense_Mutation_p.E744D|TRERF1_uc003osc.2_Missense_Mutation_p.E744D|TRERF1_uc003ose.2_Missense_Mutation_p.E1008D NM_033502 NP_277037 Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 988 Interacts with CREBBP. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding ovary(3)|pancreas(1)|skin(1) 5 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) CGGGTGGTGGCTCCGGGGACT 0.547000 KLHDC3 116138 broad.mit.edu 37 6 42985306 42985306 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr6:42985306G>A uc003otl.2 + 3 373 c.204G>A c.(202-204)GGG>GGA p.G68G KLHDC3_uc003otm.2_RNA|KLHDC3_uc010jyf.2_Silent_p.G68G|KLHDC3_uc003otn.2_5'UTR|KLHDC3_uc003oto.2_Intron NM_057161 NP_476502 Q9BQ90 KLDC3_HUMAN kelch domain containing 3 68 Kelch 1. reciprocal meiotic recombination cytoplasm|nuclear chromatin chromatin binding|protein binding upper_aerodigestive_tract(1) 1 Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) CCATCCGTGGGCAAGCTCCTG 0.622000 CLIC5 53405 broad.mit.edu 37 6 45917038 45917038 + Missense_Mutation SNP A A G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr6:45917038A>G uc003oxv.3 - 3 837 c.731T>C c.(730-732)GTC>GCC p.V244A CLIC5_uc003oxu.3_Missense_Mutation_p.V85A|CLIC5_uc003oxx.2_Missense_Mutation_p.V85A NM_001114086 NP_001107558 Q9NZA1 CLIC5_HUMAN chloride intracellular channel 5 isoform a 244 female pregnancy actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|Golgi apparatus|insoluble fraction|microtubule organizing center protein binding|voltage-gated chloride channel activity ovary(1)|skin(1) 2 GATCTTATTGACGTCTGTCTT 0.537000 GPR116 221395 broad.mit.edu 37 6 46828548 46828548 + Silent SNP A A G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr6:46828548A>G uc003oyo.3 - 16 2572 c.2283T>C c.(2281-2283)CAT>CAC p.H761H GPR116_uc011dwj.1_Silent_p.H316H|GPR116_uc011dwk.1_Silent_p.H190H|GPR116_uc003oyp.3_Silent_p.H619H|GPR116_uc003oyq.3_Silent_p.H761H|GPR116_uc010jzi.1_Silent_p.H433H NM_001098518 NP_001091988 Q8IZF2 GP116_HUMAN G-protein coupled receptor 116 precursor 761 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|skin(1) 2 Lung(136;0.192) AGCTGATTTCATGTTCCGCTT 0.438000 GPR110 266977 broad.mit.edu 37 6 46977701 46977701 + Missense_Mutation SNP A A C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr6:46977701A>C uc003oyt.2 - 11 1669 c.1470T>G c.(1468-1470)ATT>ATG p.I490M GPR110_uc011dwl.1_Missense_Mutation_p.I178M NM_153840 NP_722582 Q5T601 GP110_HUMAN G-protein coupled receptor 110 isoform 1 490 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(2)|pancreas(1) 3 AAACGGGTAGAATGTTCCCCA 0.418000 TINAG 27283 broad.mit.edu 37 6 54212228 54212228 + Missense_Mutation SNP A A G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr6:54212228A>G uc003pcj.2 + 6 958 c.812A>G c.(811-813)CAG>CGG p.Q271R TINAG_uc010jzt.2_Intron NM_014464 NP_055279 Q9UJW2 TINAG_HUMAN tubulointerstitial nephritis antigen 271 cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis basement membrane cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity ovary(3)|central_nervous_system(1) 4 Lung NSC(77;0.0518) LUSC - Lung squamous cell carcinoma(124;0.246) CTATCCCCTCAGAATTTGATC 0.433000 DST 667 broad.mit.edu 37 6 56328469 56328469 + Missense_Mutation SNP C C A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr6:56328469C>A uc003pdf.2 - 94 16452 c.16424G>T c.(16423-16425)AGA>ATA p.R5475I DST_uc003pcz.3_Missense_Mutation_p.R5297I|DST_uc011dxj.1_Missense_Mutation_p.R5326I|DST_uc011dxk.1_Missense_Mutation_p.R5337I|DST_uc003pcy.3_Missense_Mutation_p.R4971I|DST_uc003pcv.3_Missense_Mutation_p.R93I|DST_uc003pcw.3_Missense_Mutation_p.R54I|DST_uc003pcx.3_Missense_Mutation_p.R54I NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 7407 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TGGCCGGGATCTTCGGCCTCG 0.592000 IBTK 25998 broad.mit.edu 37 6 82936995 82936995 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr6:82936995C>T uc003pjl.1 - 5 1095 c.568G>A c.(568-570)GTG>ATG p.V190M IBTK_uc011dyv.1_Missense_Mutation_p.V190M|IBTK_uc011dyw.1_Missense_Mutation_p.V190M|IBTK_uc010kbi.1_Translation_Start_Site|IBTK_uc003pjm.2_Missense_Mutation_p.V190M NM_015525 NP_056340 Q9P2D0 IBTK_HUMAN inhibitor of Bruton's tyrosine kinase 190 RCC1 1. negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol cytoplasm|membrane|nucleus protein kinase binding|protein tyrosine kinase inhibitor activity ovary(2)|central_nervous_system(2) 4 all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037) BRCA - Breast invasive adenocarcinoma(397;0.0901) GACAGAAACACGGAGTGAAAT 0.363000 ZNF292 23036 broad.mit.edu 37 6 87953265 87953265 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr6:87953265G>A uc003plm.3 + 6 855 c.814G>A c.(814-816)GCT>ACT p.A272T NM_015021 NP_055836 O60281 ZN292_HUMAN zinc finger protein 292 272 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4) 4 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) TGAAAAAAGCGCTCTTGTTTT 0.353000 FUT9 10690 broad.mit.edu 37 6 96651800 96651800 + Missense_Mutation SNP C C A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr6:96651800C>A uc003pop.3 + 3 1110 c.769C>A c.(769-771)CTA>ATA p.L257I NM_006581 NP_006572 Q9Y231 FUT9_HUMAN fucosyltransferase 9 (alpha (1,3) 257 Lumenal (Potential). L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity skin(4)|ovary(1) 5 all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356) BRCA - Breast invasive adenocarcinoma(108;0.08) CACGGAAAAGCTATACAATGC 0.343000 PRDM13 59336 broad.mit.edu 37 6 100062155 100062155 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr6:100062155G>A uc003pqg.1 + 4 1905 c.1644G>A c.(1642-1644)CCG>CCA p.P548P NM_021620 NP_067633 Q9H4Q3 PRD13_HUMAN PR domain containing 13 548 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186) BRCA - Breast invasive adenocarcinoma(108;0.0598) CGTTGCCACcggccgtcgcgg 0.468000 RNF217 154214 broad.mit.edu 37 6 125366443 125366443 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr6:125366443G>A uc003pzs.2 + 4 431 c.93G>A c.(91-93)ACG>ACA p.T31T RNF217_uc003pzr.2_Silent_p.T88T|RNF217_uc003pzt.2_RNA NM_152553 NP_689766 Q8TC41 RN217_HUMAN ring finger protein 217 31 protein ubiquitination involved in ubiquitin-dependent protein catabolic process integral to membrane ubiquitin-protein ligase activity|zinc ion binding 0 LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828) GBM - Glioblastoma multiforme(226;0.0162) ATAACTTAACGCATGAAGACT 0.418000 KIAA1244 57221 broad.mit.edu 37 6 138618006 138618006 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr6:138618006G>A uc003qhu.2 + 21 3562 c.3562G>A c.(3562-3564)GCC>ACC p.A1188T NM_020340 NP_065073 Q5TH69 BIG3_HUMAN brefeldin A-inhibited guanine 1188 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity ovary(1)|skin(1) 2 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) CCTGGGGAATGCCATGCTGAG 0.562000 HECA 51696 broad.mit.edu 37 6 139487653 139487653 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr6:139487653C>T uc003qin.2 + 2 789 c.504C>T c.(502-504)GGC>GGT p.G168G NM_016217 NP_057301 Q9UBI9 HDC_HUMAN headcase 168 respiratory tube development 0 GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387) CAAAGAAGGGCTACGACCTGG 0.587000 HECA 51696 broad.mit.edu 37 6 139487805 139487805 + Missense_Mutation SNP C C A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr6:139487805C>A uc003qin.2 + 2 941 c.656C>A c.(655-657)GCG>GAG p.A219E NM_016217 NP_057301 Q9UBI9 HDC_HUMAN headcase 219 respiratory tube development 0 GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387) GGTGAGGCGGCGGAGGAGGCA 0.592000 UTRN 7402 broad.mit.edu 37 6 144812155 144812155 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr6:144812155G>A uc003qkt.2 + 31 4446 c.4354G>A c.(4354-4356)GAT>AAT p.D1452N NM_007124 NP_009055 P46939 UTRO_HUMAN utrophin 1452 Spectrin 10.|Interaction with SYNM. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding ovary(4)|pancreas(1) 5 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) GCGTGTGCTGGATGGCGTGAA 0.527000 SNX9 51429 broad.mit.edu 37 6 158349643 158349643 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr6:158349643C>T uc003qqv.1 + 12 1370 c.1197C>T c.(1195-1197)TGC>TGT p.C399C NM_016224 NP_057308 Q9Y5X1 SNX9_HUMAN sorting nexin 9 399 BAR. cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network 1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding 0 Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167) OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05) AGCAGAAGTGCGAGGCTGTGG 0.587000 SLC22A1 6580 broad.mit.edu 37 6 160543054 160543054 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr6:160543054G>A uc003qtc.2 + 1 192 c.87G>A c.(85-87)TCG>TCA p.S29S SLC22A1_uc003qtd.2_Silent_p.S29S NM_003057 NP_003048 O15245 S22A1_HUMAN solute carrier family 22 member 1 isoform a 29 Helical; (Potential). basolateral plasma membrane|integral to plasma membrane|membrane fraction organic cation transmembrane transporter activity|protein binding 0 Breast(66;0.000776)|Ovarian(120;0.00556) OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06) GCCTGCTGTCGGCTGCCTTTG 0.597000 RPS6KA2 6196 broad.mit.edu 37 6 166844007 166844007 + Silent SNP C C T rs140163975 TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr6:166844007C>T uc003qvb.1 - 16 1734 c.1515G>A c.(1513-1515)TCG>TCA p.S505S RPS6KA2_uc011ego.1_Silent_p.S416S|RPS6KA2_uc010kkl.1_Silent_p.S416S|RPS6KA2_uc003qvc.1_Silent_p.S513S|RPS6KA2_uc003qvd.1_Silent_p.S530S NM_021135 NP_066958 Q15349 KS6A2_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 505 Protein kinase 2. axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(2)|lung(2)|skin(2)|large_intestine(1)|central_nervous_system(1) 8 Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105) OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05) CTTCGCGCTCCGAGAAGTATC 0.602000 MLLT4 4301 broad.mit.edu 37 6 168281130 168281130 + Missense_Mutation SNP C C A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr6:168281130C>A uc003qwd.2 + 6 969 c.827C>A c.(826-828)GCT>GAT p.A276D MLLT4_uc003qwb.1_Missense_Mutation_p.A276D|MLLT4_uc003qwc.1_Missense_Mutation_p.A277D|MLLT4_uc003qwf.2_Translation_Start_Site NM_001040001 NP_001035090 P55196 AFAD_HUMAN myeloid/lymphoid or mixed-lineage leukemia 277 Ras-associating 2. adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction adherens junction|cell-cell junction|cytosol|nucleus protein C-terminus binding ovary(2)|lung(1)|kidney(1)|central_nervous_system(1) 5 Breast(66;1.07e-05)|Ovarian(120;0.024) Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117) GCAGACTTTGCTGTGGCTGAA 0.393000 T MLL AL PAPOLB 56903 broad.mit.edu 37 7 4900547 4900547 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr7:4900547G>A uc003snk.2 - 1 1079 c.895C>T c.(895-897)CCT>TCT p.P299S RADIL_uc003sng.1_Intron|RADIL_uc011jwd.1_Intron|RADIL_uc003snj.1_Intron NM_020144 NP_064529 Q9NRJ5 PAPOB_HUMAN poly(A) polymerase beta (testis specific) 298 mRNA processing|RNA polyadenylation|transcription, DNA-dependent nucleus ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding ovary(1) 1 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14) TCCCATACAGGCAAATTAAGA 0.443000 RNF216 54476 broad.mit.edu 37 7 5752387 5752387 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr7:5752387G>A uc003soy.1 - 12 1960 c.1770C>T c.(1768-1770)GCC>GCT p.A590A RNF216_uc010ksz.1_Silent_p.A212A|RNF216_uc010kta.1_Silent_p.A212A|RNF216_uc011jwj.1_Silent_p.A212A|RNF216_uc003sox.1_Silent_p.A647A NM_207116 NP_996999 Q9NWF9 RN216_HUMAN ring finger protein 216 isoform b 590 IBR-type. apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production cytoplasm|nucleus|nucleus ligase activity|protein binding|protein binding|zinc ion binding ovary(3)|breast(2) 5 Ovarian(82;0.07) UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13) CCTCCTCCTCGGCTTTTCGCT 0.562000 AIMP2 7965 broad.mit.edu 37 7 6057478 6057478 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr7:6057478G>A uc003spo.2 + 3 489 c.376G>A c.(376-378)GCA>ACA p.A126T NM_006303 NP_006294 Q13155 AIMP2_HUMAN aminoacyl tRNA synthetase complex-interacting 126 Interaction with PARK2. apoptosis|cell differentiation|multicellular organismal development|tRNA aminoacylation for protein translation cytosol|nucleus protein binding ovary(1) 1 CGTGATCAACGCAAACCCGGC 0.532000 MACC1 346389 broad.mit.edu 37 7 20201455 20201455 + Missense_Mutation SNP A A G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr7:20201455A>G uc003sus.3 - 4 340 c.31T>C c.(31-33)TCA>CCA p.S11P MACC1_uc010kug.2_Missense_Mutation_p.S11P NM_182762 NP_877439 Q6ZN28 MACC1_HUMAN putative binding protein 7a5 11 positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane growth factor activity ovary(2)|skin(1) 3 ATTCTTCCTGACCGAAAATGT 0.323000 COL1A2 1278 broad.mit.edu 37 7 94056959 94056959 + Silent SNP C C T rs149097024 TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr7:94056959C>T uc003ung.1 + 49 3759 c.3288C>T c.(3286-3288)GGC>GGT p.G1096G COL1A2_uc011kib.1_Intron NM_000089 NP_000080 P08123 CO1A2_HUMAN alpha 2 type I collagen precursor 1096 Missing (in OI4).|G -> A (in OI3). axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1) 9 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) GTCCCCCTGGCCCTCCTGGAC 0.532000 HNSCC(75;0.22) PTCD1 26024 broad.mit.edu 37 7 99017660 99017660 + Missense_Mutation SNP C C T rs150466149 TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr7:99017660C>T uc003uqh.2 - 8 2164 c.2033G>A c.(2032-2034)CGG>CAG p.R678Q PTCD1_uc011kiw.1_Missense_Mutation_p.R727Q NM_015545 NP_056360 O75127 PTCD1_HUMAN pentatricopeptide repeat domain 1 678 ovary(1) 1 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) GGGCTTGGTCCGGAACTTCTG 0.612000 MUC17 140453 broad.mit.edu 37 7 100682329 100682329 + Silent SNP T T C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr7:100682329T>C uc003uxp.1 + 3 7685 c.7632T>C c.(7630-7632)AGT>AGC p.S2544S MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 2544 Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|41. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) ACTCCAACAGTCCTGTGGTCA 0.473000 DNAJC2 27000 broad.mit.edu 37 7 102953432 102953432 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr7:102953432G>A uc003vbo.2 - 16 2004 c.1753C>T c.(1753-1755)CCT>TCT p.P585S PMPCB_uc003vbl.2_3'UTR|PMPCB_uc003vbm.2_3'UTR|PMPCB_uc010liv.2_3'UTR|PMPCB_uc010liw.2_3'UTR|PMPCB_uc011kll.1_Intron|DNAJC2_uc003vbn.2_Missense_Mutation_p.P210S|DNAJC2_uc010lix.2_Missense_Mutation_p.P532S|DNAJC2_uc003vbp.2_Missense_Mutation_p.P210S NM_014377 NP_055192 Q99543 DNJC2_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 2 585 SANT 2. 'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nuclear membrane chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding kidney(1) 1 GTCCTGCCAGGCACCGCTTCT 0.408000 LAMB1 3912 broad.mit.edu 37 7 107577640 107577640 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr7:107577640C>T uc003vew.2 - 26 4179 c.3844G>A c.(3844-3846)GCC>ACC p.A1282T LAMB1_uc003vev.2_Missense_Mutation_p.A1306T NM_002291 NP_002282 P07942 LAMB1_HUMAN laminin, beta 1 precursor 1282 Potential.|Domain II. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 8 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AGTTCTTTGGCTGTGCTGTTG 0.378000 TMEM168 64418 broad.mit.edu 37 7 112423832 112423832 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr7:112423832C>T uc003vgn.2 - 2 1441 c.1049G>A c.(1048-1050)CGC>CAC p.R350H TMEM168_uc010lju.2_Missense_Mutation_p.R350H|TMEM168_uc011kmr.1_Intron NM_022484 NP_071929 Q9H0V1 TM168_HUMAN transmembrane protein 168 350 integral to membrane|transport vesicle ovary(1)|central_nervous_system(1) 2 GCAAAAATGGCGCATCCCTTT 0.408000 SPAM1 6677 broad.mit.edu 37 7 123593630 123593630 + Silent SNP A A T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr7:123593630A>T uc003vld.2 + 4 408 c.6A>T c.(4-6)GGA>GGT p.G2G SPAM1_uc003vle.2_Silent_p.G2G|SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vlf.3_Silent_p.G2G|SPAM1_uc010lku.2_Silent_p.G2G NM_153189 NP_694859 P38567 HYALP_HUMAN sperm adhesion molecule 1 isoform 2 2 binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane anchored to membrane|plasma membrane hyalurononglucosaminidase activity ovary(3)|kidney(1) 4 Hyaluronidase(DB00070) TTACAATGGGAGTGCTAAAAT 0.363000 PLXNA4 91584 broad.mit.edu 37 7 131866253 131866253 + Missense_Mutation SNP A A G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr7:131866253A>G uc003vra.3 - 18 3608 c.3379T>C c.(3379-3381)TCC>CCC p.S1127P NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN plexin A4 isoform 1 1127 Extracellular (Potential).|IPT/TIG 3. integral to membrane|intracellular|plasma membrane ovary(1) 1 ATGAGCAGGGACTGGACGTTG 0.602000 BPGM 669 broad.mit.edu 37 7 134346677 134346677 + Missense_Mutation SNP C C T rs141221644 by1000genomes TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr7:134346677C>T uc003vrv.2 + 3 959 c.418C>T c.(418-420)CGG>TGG p.R140W BPGM_uc003vrw.2_Missense_Mutation_p.R140W|BPGM_uc003vrx.2_Missense_Mutation_p.R140W NM_199186 NP_954655 P07738 PMGE_HUMAN bisphosphoglycerate mutase 140 glycolysis|respiratory gaseous exchange 2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity 0 CTACAACGACCGGAGGTATAA 0.473000 CNOT4 4850 broad.mit.edu 37 7 135079001 135079001 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr7:135079001C>T uc003vsv.1 - 10 1603 c.1296G>A c.(1294-1296)TCG>TCA p.S432S CNOT4_uc003vss.2_Silent_p.S429S|CNOT4_uc011kpz.1_Silent_p.S429S|CNOT4_uc003vst.2_Silent_p.S432S|CNOT4_uc003vsu.1_Silent_p.S429S|CNOT4_uc011kpy.1_Silent_p.S432S NM_001008225 NP_001008226 O95628 CNOT4_HUMAN CCR4-NOT transcription complex, subunit 4 432 nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding 0 GAGATGTGGGCGAAAGGGAAG 0.498000 SVOPL 136306 broad.mit.edu 37 7 138312915 138312915 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr7:138312915C>T uc011kqh.1 - 10 1057 c.1057G>A c.(1057-1059)GGT>AGT p.G353S SVOPL_uc003vue.2_Missense_Mutation_p.G201S NM_001139456 NP_001132928 Q8N434 SVOPL_HUMAN SVOP-like isoform 1 353 Helical; (Potential). integral to membrane transmembrane transporter activity 0 GCAATTTCACCGATGGTGCTG 0.552000 ATP6V0A4 50617 broad.mit.edu 37 7 138437555 138437555 + Nonsense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr7:138437555G>A uc003vuf.2 - 10 1082 c.844C>T c.(844-846)CAG>TAG p.Q282* ATP6V0A4_uc003vug.2_Nonsense_Mutation_p.Q282*|ATP6V0A4_uc003vuh.2_Nonsense_Mutation_p.Q282* NM_130841 NP_570856 Q9HBG4 VPP4_HUMAN ATPase, H+ transporting, lysosomal V0 subunit 282 Cytoplasmic (Potential). cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity pancreas(1) 1 AGCAGGCGCTGGCGGTGAGAC 0.488000 TTC26 79989 broad.mit.edu 37 7 138833067 138833067 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr7:138833067G>A uc003vus.2 + 7 775 c.661G>A c.(661-663)GCA>ACA p.A221T TTC26_uc003vuq.2_Missense_Mutation_p.A221T|TTC26_uc011kqm.1_Intron|TTC26_uc003vur.3_Missense_Mutation_p.A221T|TTC26_uc011kqn.1_Missense_Mutation_p.A221T|TTC26_uc011kqo.1_Missense_Mutation_p.A190T|TTC26_uc011kqp.1_Missense_Mutation_p.A116T|TTC26_uc003vut.2_Missense_Mutation_p.A81T|TTC26_uc011kqq.1_Intron NM_024926 NP_079202 A0AVF1 TTC26_HUMAN tetratricopeptide repeat domain 26 isoform 1 221 binding ovary(1) 1 TAGTACCATCGCACTCAATCT 0.388000 EPHB6 2051 broad.mit.edu 37 7 142566336 142566336 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr7:142566336G>A uc011kst.1 + 15 2912 c.2125G>A c.(2125-2127)GCC>ACC p.A709T EPHB6_uc011ksu.1_Missense_Mutation_p.A709T|EPHB6_uc003wbs.2_Missense_Mutation_p.A417T|EPHB6_uc003wbt.2_Missense_Mutation_p.A183T|EPHB6_uc003wbu.2_Missense_Mutation_p.A417T|EPHB6_uc003wbv.2_Missense_Mutation_p.A93T NM_004445 NP_004436 O15197 EPHB6_HUMAN ephrin receptor EphB6 precursor 709 Cytoplasmic (Potential).|Protein kinase. extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1) 19 Melanoma(164;0.059) GGCCGGGGGCGCCGAAAGCCT 0.677000 ZNF425 155054 broad.mit.edu 37 7 148802270 148802270 + Silent SNP G G T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr7:148802270G>T uc003wfj.2 - 4 766 c.693C>A c.(691-693)TCC>TCA p.S231S NM_001001661 NP_001001661 Q6IV72 ZN425_HUMAN zinc finger protein 425 231 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(2)|ovary(1) 3 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) GCCTGAGTTCGGACTTCCCTC 0.532000 KRBA1 84626 broad.mit.edu 37 7 149416733 149416733 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr7:149416733C>T uc003wfz.2 + 2 403 c.4C>T c.(4-6)CGG>TGG p.R2W KRBA1_uc010lpj.2_RNA|KRBA1_uc003wga.2_5'Flank NM_032534 NP_115923 A5PL33 KRBA1_HUMAN KRAB A domain containing 1 2 ovary(1)|central_nervous_system(1) 2 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) AGACGTGATGCGGGAGAACTA 0.652000 ZNF862 643641 broad.mit.edu 37 7 149547305 149547305 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr7:149547305C>T uc010lpn.2 + 5 1187 c.995C>T c.(994-996)CCG>CTG p.P332L ZNF862_uc003wgm.2_RNA NM_001099220 NP_001092690 O60290 ZN862_HUMAN zinc finger protein 862 332 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|nucleic acid binding|protein dimerization activity skin(1) 1 GAGGAGCTGCCGGTGGTGTTC 0.607000 RNF32 140545 broad.mit.edu 37 7 156468498 156468498 + Silent SNP T T C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr7:156468498T>C uc003wmo.2 + 8 975 c.793T>C c.(793-795)TTG>CTG p.L265L RNF32_uc010lqm.2_Silent_p.L265L|RNF32_uc003wmq.2_Silent_p.L265L|RNF32_uc003wmr.2_Silent_p.L265L|RNF32_uc003wmu.2_RNA NM_030936 NP_112198 Q9H0A6 RNF32_HUMAN ring finger protein 32 265 aggresome|endosome protein binding|zinc ion binding 0 Ovarian(565;0.218) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.00291) UCEC - Uterine corpus endometrioid carcinoma (81;0.169) TCTTCAGCAGTTGGAAGAAAA 0.483000 ESYT2 57488 broad.mit.edu 37 7 158560362 158560362 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr7:158560362G>A uc003wob.1 - 8 1117 c.1051C>T c.(1051-1053)CGG>TGG p.R351W ESYT2_uc003woc.1_Missense_Mutation_p.R175W|ESYT2_uc003wod.1_Missense_Mutation_p.R351W NM_020728 NP_065779 A0FGR8 ESYT2_HUMAN family with sequence similarity 62 (C2 domain 379 C2 1. integral to membrane|plasma membrane central_nervous_system(2)|kidney(1) 3 ACAGGAAACCGCAACTGAGCT 0.448000 MYOM2 9172 broad.mit.edu 37 8 2092718 2092718 + Missense_Mutation SNP C C T rs147501499 byFrequency TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr8:2092718C>T uc003wpx.3 + 37 4349 c.4211C>T c.(4210-4212)ACC>ATC p.T1404I MYOM2_uc011kwi.1_Missense_Mutation_p.T829I NM_003970 NP_003961 P54296 MYOM2_HUMAN myomesin 2 1404 Ig-like C2-type 5. muscle contraction myosin filament structural constituent of muscle ovary(4)|central_nervous_system(1)|skin(1) 6 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) GTCAGCATGACCATCAAAGGC 0.532000 CSMD1 64478 broad.mit.edu 37 8 3087599 3087599 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr8:3087599G>A uc011kwk.1 - 27 4701 c.4311C>T c.(4309-4311)AAC>AAT p.N1437N CSMD1_uc011kwj.1_Silent_p.N829N|CSMD1_uc003wqe.2_Silent_p.N593N NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 1437 Extracellular (Potential).|Sushi 8. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) AAAAGAACCGGTTATTCAGCT 0.463000 TUSC3 7991 broad.mit.edu 37 8 15519705 15519705 + Missense_Mutation SNP C C A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr8:15519705C>A uc003wwt.2 + 5 818 c.608C>A c.(607-609)GCT>GAT p.A203D TUSC3_uc003wwr.2_Missense_Mutation_p.A203D|TUSC3_uc003wws.2_Missense_Mutation_p.A203D|TUSC3_uc003wwu.2_Missense_Mutation_p.A203D|TUSC3_uc003wwv.2_Missense_Mutation_p.A203D|TUSC3_uc003www.2_Missense_Mutation_p.A203D|TUSC3_uc003wwx.2_RNA|TUSC3_uc003wwy.2_Missense_Mutation_p.A203D NM_006765 NP_006756 Q13454 TUSC3_HUMAN tumor suppressor candidate 3 isoform a 203 Helical; (Potential). cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex ovary(2)|central_nervous_system(1) 3 Colorectal(111;0.113) GGTACCATTGCTTTGGCCCTG 0.383000 ATP6V1B2 526 broad.mit.edu 37 8 20075767 20075767 + Missense_Mutation SNP A A C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr8:20075767A>C uc003wzp.2 + 13 1584 c.1370A>C c.(1369-1371)AAG>ACG p.K457T ATP6V1B2_uc003wzq.1_5'Flank NM_001693 NP_001684 P21281 VATB2_HUMAN vacuolar H+ATPase B2 457 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|endomembrane system|Golgi apparatus|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism 0 Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211) TTTCTGCAGAAGTTTGAGAGG 0.413000 DOK2 9046 broad.mit.edu 37 8 21767139 21767139 + Missense_Mutation SNP G G T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr8:21767139G>T uc003wzy.1 - 5 1015 c.922C>A c.(922-924)CGT>AGT p.R308S DOK2_uc003wzx.1_Missense_Mutation_p.R308S|DOK2_uc003wzz.1_Missense_Mutation_p.R154S|DOK2_uc010lth.1_Missense_Mutation_p.R154S NM_003974 NP_003965 O60496 DOK2_HUMAN docking protein 2 308 blood coagulation|leukocyte migration cytosol identical protein binding|insulin receptor binding 0 Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608) CCCAAGGAACGGGCCACCGCA 0.667000 LOXL2 4017 broad.mit.edu 37 8 23167240 23167240 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr8:23167240G>A uc003xdh.1 - 10 2160 c.1821C>T c.(1819-1821)GGC>GGT p.G607G LOXL2_uc010lty.1_Silent_p.G146G NM_002318 NP_002309 Q9Y4K0 LOXL2_HUMAN lysyl oxidase-like 2 precursor 607 Lysyl-oxidase like. aging|cell adhesion|protein modification process extracellular space|membrane copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity breast(2)|ovary(1) 3 Prostate(55;0.0453)|Breast(100;0.143) Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096) AGTCGGACTGGCCATTGTTGT 0.682000 DPYSL2 1808 broad.mit.edu 37 8 26492331 26492331 + Silent SNP C C T rs35621323 byFrequency TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr8:26492331C>T uc003xfb.1 + 8 1076 c.726C>T c.(724-726)ATC>ATT p.I242I DPYSL2_uc003xfa.2_Silent_p.I347I|DPYSL2_uc011lag.1_Silent_p.I242I|DPYSL2_uc010luk.1_RNA|DPYSL2_uc011lah.1_Silent_p.I206I NM_001386 NP_001377 Q16555 DPYL2_HUMAN dihydropyrimidinase-like 2 242 axon guidance|pyrimidine base catabolic process|signal transduction cytosol dihydropyrimidinase activity|protein binding large_intestine(1) 1 all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183) CCATCACCATCGCCAACCAGA 0.582000 RNF122 79845 broad.mit.edu 37 8 33416240 33416240 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr8:33416240C>T uc003xjo.1 - 2 477 c.75G>A c.(73-75)ATG>ATA p.M25I NM_024787 NP_079063 Q9H9V4 RN122_HUMAN ring finger protein 122 25 endoplasmic reticulum|Golgi apparatus|integral to membrane zinc ion binding 0 KIRC - Kidney renal clear cell carcinoma(67;0.0966)|Kidney(114;0.116) TGATGGGTGGCATCGAGCAGG 0.478000 TACC1 6867 broad.mit.edu 37 8 38699879 38699879 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr8:38699879G>A uc010lwp.2 + 10 2414 c.2035G>A c.(2035-2037)GCT>ACT p.A679T TACC1_uc003xma.2_Missense_Mutation_p.A117T|TACC1_uc003xlz.2_Missense_Mutation_p.A484T|TACC1_uc003xmc.3_Missense_Mutation_p.A483T|TACC1_uc011lbz.1_Missense_Mutation_p.A666T|TACC1_uc003xmb.3_Missense_Mutation_p.A605T|TACC1_uc003xmf.3_Missense_Mutation_p.A269T|TACC1_uc011lca.1_Missense_Mutation_p.A662T|TACC1_uc011lcb.1_Missense_Mutation_p.A455T|TACC1_uc011lcd.1_RNA|TACC1_uc003xmh.3_Missense_Mutation_p.A496T|TACC1_uc010lwq.2_Missense_Mutation_p.A495T NM_006283 NP_006274 O75410 TACC1_HUMAN transforming, acidic coiled-coil containing 679 cell cycle|cell division intermediate filament cytoskeleton|microtubule organizing center|nucleus protein binding ovary(1) 1 all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065) LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235) ACAGGCCCTGGCTGACCTTAA 0.453000 C8orf40 114926 broad.mit.edu 37 8 42407698 42407698 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr8:42407698G>A uc011lcv.1 + 4 320 c.271G>A c.(271-273)GAC>AAC p.D91N C8orf40_uc003xph.2_Missense_Mutation_p.D91N|C8orf40_uc003xpg.2_Missense_Mutation_p.D91N|C8orf40_uc010lxo.2_Missense_Mutation_p.D91N NM_001135676 NP_001129148 Q96E16 CH040_HUMAN hypothetical protein LOC114926 91 cytoplasm|integral to membrane|nucleolus 0 all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211) all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151) Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869) AAGAAAGTACGACTATCAGCA 0.338000 KIAA0146 23514 broad.mit.edu 37 8 48625354 48625354 + Missense_Mutation SNP T T C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr8:48625354T>C uc003xqd.2 + 15 2117 c.2108T>C c.(2107-2109)GTG>GCG p.V703A KIAA0146_uc011ldb.1_Missense_Mutation_p.V703A|KIAA0146_uc010lxs.2_Missense_Mutation_p.V178A|KIAA0146_uc011ldc.1_Missense_Mutation_p.V633A|KIAA0146_uc011ldd.1_Missense_Mutation_p.V643A|KIAA0146_uc003xqe.2_Missense_Mutation_p.V178A|KIAA0146_uc003xqf.2_RNA|KIAA0146_uc011lde.1_Missense_Mutation_p.V392A|KIAA0146_uc010lxt.2_Missense_Mutation_p.V392A|KIAA0146_uc011ldf.1_Missense_Mutation_p.V208A|KIAA0146_uc011ldg.1_Missense_Mutation_p.V193A|KIAA0146_uc003xqg.1_5'Flank NM_001080394 NP_001073863 Q14159 K0146_HUMAN hypothetical protein LOC23514 703 0 Lung NSC(58;0.175) CCCTTGTGTGTGCTGGGCTCT 0.607000 DNAJC5B 85479 broad.mit.edu 37 8 66988980 66988980 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr8:66988980G>A uc003xvs.1 + 4 496 c.205G>A c.(205-207)GCA>ACA p.A69T DNAJC5B_uc003xvt.1_RNA NM_033105 NP_149096 Q9UF47 DNJ5B_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 5 69 J. protein folding membrane heat shock protein binding|unfolded protein binding 0 Lung NSC(129;0.114)|all_lung(136;0.188) Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112) CAACGCCCACGCAATACTTAC 0.428000 NCOA2 10499 broad.mit.edu 37 8 71071833 71071833 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr8:71071833C>T uc003xyn.1 - 10 1193 c.1031G>A c.(1030-1032)GGC>GAC p.G344D NM_006540 NP_006531 Q15596 NCOA2_HUMAN nuclear receptor coactivator 2 344 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity PAX3/NCOA2(4) lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1) 16 Breast(64;0.201) Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606) AACAAGAGTGCCATCAGACAA 0.398000 T RUNXBP2 AML LRRCC1 85444 broad.mit.edu 37 8 86042248 86042248 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr8:86042248C>T uc003ycw.2 + 11 1875 c.1721C>T c.(1720-1722)GCG>GTG p.A574V LRRCC1_uc010lzz.1_RNA|LRRCC1_uc010maa.1_Missense_Mutation_p.A275V|LRRCC1_uc003ycx.2_Missense_Mutation_p.A481V|LRRCC1_uc003ycy.2_Missense_Mutation_p.A554V NM_033402 NP_208325 Q9C099 LRCC1_HUMAN sodium channel associated protein 2 isoform a 574 Potential. cell division|mitosis centriole|nucleus 0 AGAGAACAAGCGCAACAACTT 0.368000 DCAF4L2 138009 broad.mit.edu 37 8 88885339 88885339 + Silent SNP T T C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr8:88885339T>C uc003ydz.2 - 1 958 c.861A>G c.(859-861)TCA>TCG p.S287S NM_152418 NP_689631 Q8NA75 DC4L2_HUMAN WD repeat domain 21C 287 WD 1. ovary(1) 1 TCATGTCTGATGACACCAGGA 0.507000 KIAA1429 25962 broad.mit.edu 37 8 95500956 95500956 + Missense_Mutation SNP T T C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr8:95500956T>C uc003ygo.1 - 24 5430 c.5417A>G c.(5416-5418)CAT>CGT p.H1806R KIAA1429_uc010maz.1_RNA NM_015496 NP_056311 Q69YN4 VIR_HUMAN hypothetical protein LOC25962 isoform 1 1806 mRNA processing|RNA splicing nucleus ovary(1)|skin(1) 2 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) GGAGCGTACATGACGACCTCT 0.443000 RGS22 26166 broad.mit.edu 37 8 101011627 101011627 + Missense_Mutation SNP A A C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr8:101011627A>C uc003yjb.1 - 19 3007 c.2812T>G c.(2812-2814)TGG>GGG p.W938G RGS22_uc003yja.1_Missense_Mutation_p.W757G|RGS22_uc003yjc.1_Missense_Mutation_p.W926G NM_015668 NP_056483 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 938 RGS 1. negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity ovary(3)|skin(2)|breast(1)|central_nervous_system(1) 7 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) ATCTTCCCCCAGCCACCACTT 0.363000 SYBU 55638 broad.mit.edu 37 8 110587336 110587336 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr8:110587336G>A uc003ynj.3 - 7 1954 c.1791C>T c.(1789-1791)GGC>GGT p.G597G SYBU_uc003yni.3_Silent_p.G594G|SYBU_uc003ynk.3_Silent_p.G478G|SYBU_uc010mco.2_Silent_p.G596G|SYBU_uc003ynl.3_Silent_p.G596G|SYBU_uc010mcp.2_Silent_p.G597G|SYBU_uc010mcq.2_Silent_p.G597G|SYBU_uc003yno.3_Silent_p.G478G|SYBU_uc010mcr.2_Silent_p.G597G|SYBU_uc003ynm.3_Silent_p.G596G|SYBU_uc003ynn.3_Silent_p.G596G|SYBU_uc010mcs.2_Silent_p.G478G|SYBU_uc010mct.2_Silent_p.G597G|SYBU_uc010mcu.2_Silent_p.G596G|SYBU_uc003ynp.3_Silent_p.G529G|SYBU_uc010mcv.2_Silent_p.G597G|SYBU_uc003ynh.3_Silent_p.G391G|SYBU_uc011lhw.1_Silent_p.G467G NM_001099754 NP_001093224 Q9NX95 SYBU_HUMAN Golgi-localized syntaphilin-related protein 597 cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane ovary(1) 1 GCCTCACGACGCCCCCGCGAG 0.597000 MTSS1 9788 broad.mit.edu 37 8 125565501 125565501 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr8:125565501C>T uc003yrk.2 - 14 2534 c.2000G>A c.(1999-2001)GGC>GAC p.G667D NDUFB9_uc011lim.1_Intron|MTSS1_uc003yrh.2_Missense_Mutation_p.G316D|MTSS1_uc011lin.1_Missense_Mutation_p.G441D|MTSS1_uc011lio.1_Missense_Mutation_p.G557D|MTSS1_uc003yri.2_Missense_Mutation_p.G385D|MTSS1_uc003yrj.2_Missense_Mutation_p.G642D|MTSS1_uc003yrl.2_Missense_Mutation_p.G671D NM_014751 NP_055566 O43312 MTSS1_HUMAN metastasis suppressor 1 667 Pro-rich. actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway actin cytoskeleton|endocytic vesicle|ruffle actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding ovary(1) 1 Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) GGAAGCTTGGCCGCTCCACAT 0.612000 FAM135B 51059 broad.mit.edu 37 8 139163507 139163507 + Silent SNP A A G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr8:139163507A>G uc003yuy.2 - 13 3382 c.3211T>C c.(3211-3213)TTG>CTG p.L1071L FAM135B_uc003yux.2_Silent_p.L972L|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Silent_p.L633L|FAM135B_uc003yvb.2_Silent_p.L633L NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 1071 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) AAGGATCCCAAAGGCTGATGG 0.532000 HNSCC(54;0.14) FLJ43860 389690 broad.mit.edu 37 8 142500233 142500233 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr8:142500233G>A uc003ywi.2 - 5 762 c.681C>T c.(679-681)GGC>GGT p.G227G FLJ43860_uc011ljs.1_RNA|FLJ43860_uc010meu.1_RNA NM_207414 NP_997297 Q6ZUA9 Q6ZUA9_HUMAN hypothetical protein LOC389690 227 binding 0 all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) AGGACAGGACGCCCATCACGT 0.637000 RHPN1 114822 broad.mit.edu 37 8 144462879 144462879 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr8:144462879G>A uc003yyb.2 + 11 1470 c.1337G>A c.(1336-1338)CGC>CAC p.R446H NM_052924 NP_443156 Q8TCX5 RHPN1_HUMAN rhophilin 1 471 BRO1. signal transduction intracellular large_intestine(1) 1 all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156) ACGCTGCAGCGCTCACTGGCC 0.687000 AK3 50808 broad.mit.edu 37 9 4719182 4719182 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr9:4719182C>T uc003ziq.1 - 3 537 c.397G>A c.(397-399)GCC>ACC p.A133T AK3_uc003zip.1_RNA|AK3_uc011lma.1_Missense_Mutation_p.A93T|AK3_uc003zir.1_Missense_Mutation_p.A63T NM_016282 NP_057366 Q9UIJ7 KAD3_HUMAN adenylate kinase 3 133 blood coagulation mitochondrial matrix ATP binding|GTP binding|nucleoside triphosphate adenylate kinase activity ovary(2) 2 all_hematologic(13;0.137) Breast(48;0.238) GBM - Glioblastoma multiforme(50;0.0302) CGGCCACTGGCGGGATGAATC 0.473000 KDM4C 23081 broad.mit.edu 37 9 6888045 6888045 + Silent SNP T T C rs35244873 byFrequency TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr9:6888045T>C uc003zkh.2 + 7 1345 c.765T>C c.(763-765)TAT>TAC p.Y255Y KDM4C_uc010mhu.2_Silent_p.Y277Y|KDM4C_uc010mhw.2_Silent_p.Y255Y|KDM4C_uc011lmi.1_Silent_p.Y255Y|KDM4C_uc011lmj.1_RNA|KDM4C_uc003zkg.2_Silent_p.Y255Y|KDM4C_uc011lmk.1_Silent_p.Y74Y NM_015061 NP_055876 Q9H3R0 KDM4C_HUMAN jumonji domain containing 2C isoform 1 255 JmjC. positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent nuclear chromatin androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding ovary(1) 1 TGAAGAAATATGGTATTCCCT 0.333000 MPDZ 8777 broad.mit.edu 37 9 13143471 13143471 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr9:13143471G>A uc010mia.1 - 26 3891 c.3834C>T c.(3832-3834)GCC>GCT p.A1278A MPDZ_uc010mhx.2_Intron|MPDZ_uc011lmm.1_Intron|MPDZ_uc003zkz.3_Intron|MPDZ_uc010mhy.2_Silent_p.A1278A|MPDZ_uc010mhz.2_Intron|MPDZ_uc011lmn.1_Intron|MPDZ_uc003zlb.3_Silent_p.A1278A NM_003829 NP_003820 O75970 MPDZ_HUMAN multiple PDZ domain protein 1278 interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding ovary(5)|central_nervous_system(1) 6 GBM - Glioblastoma multiforme(50;2.03e-06) CAACCTTGTCGGCGTTGATTT 0.428000 FREM1 158326 broad.mit.edu 37 9 14805124 14805124 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr9:14805124C>T uc003zlm.2 - 19 3891 c.3301G>A c.(3301-3303)GCT>ACT p.A1101T FREM1_uc010mic.2_RNA NM_144966 NP_659403 Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 precursor 1101 CSPG 7. cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding ovary(2)|breast(2)|pancreas(1) 5 GBM - Glioblastoma multiforme(50;3.53e-06) ATGTGAAAAGCGTTCATGTCT 0.413000 ADAMTSL1 92949 broad.mit.edu 37 9 18574213 18574213 + Silent SNP T T C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr9:18574213T>C uc003zne.3 + 4 550 c.423T>C c.(421-423)GGT>GGC p.G141G ADAMTSL1_uc003znb.2_Silent_p.G141G|ADAMTSL1_uc003znc.3_Silent_p.G141G NM_001040272 NP_001035362 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 isoform 4 precursor 141 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(3)|upper_aerodigestive_tract(1)|lung(1) 5 GBM - Glioblastoma multiforme(50;1.29e-17) TCTTAGATGGTACGCGTTGCT 0.448000 KIAA1797 54914 broad.mit.edu 37 9 20874757 20874757 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr9:20874757C>T uc003zog.1 + 21 2631 c.2268C>T c.(2266-2268)GGC>GGT p.G756G KIAA1797_uc003zoh.1_Silent_p.G192G NM_017794 NP_060264 Q5VW36 K1797_HUMAN hypothetical protein LOC54914 756 integral to membrane binding ovary(8)|breast(1)|kidney(1) 10 GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11) CAGTTCCTGGCTCTTGCTATC 0.408000 IFNA7 3444 broad.mit.edu 37 9 21202157 21202157 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr9:21202157C>T uc003zop.1 - 1 48 c.8G>A c.(7-9)CGG>CAG p.R3Q IFNA14_uc003zoo.1_Intron NM_021057 NP_066401 P01567 IFNA7_HUMAN interferon, alpha 7 precursor 3 blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding 0 GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) AGAAAAGGACCGGGCCATTGG 0.507000 UNC13B 10497 broad.mit.edu 37 9 35382432 35382432 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr9:35382432C>T uc003zwq.2 + 20 2779 c.2487C>T c.(2485-2487)AAC>AAT p.N829N UNC13B_uc003zwr.2_Silent_p.N829N NM_006377 NP_006368 O14795 UN13B_HUMAN UNC13 (C. elegans)-like 829 excretion|induction of apoptosis|intracellular signal transduction cell junction|Golgi apparatus|synapse metal ion binding|receptor activity ovary(3)|large_intestine(1)|skin(1) 5 all_epithelial(49;0.212) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194) CCAACATCAACGCCTACTATG 0.483000 FAM122A 116224 broad.mit.edu 37 9 71395740 71395740 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr9:71395740C>T uc004agw.1 + 1 777 c.660C>T c.(658-660)GGC>GGT p.G220G PIP5K1B_uc004agu.2_Intron|PIP5K1B_uc011lrq.1_Intron|PIP5K1B_uc004agv.2_Intron NM_138333 NP_612206 Q96E09 F122A_HUMAN hypothetical protein LOC116224 220 0 TTTTCCAGGGCATCACCAACA 0.453000 TLE4 7091 broad.mit.edu 37 9 82323671 82323671 + Silent SNP T T C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr9:82323671T>C uc004ald.2 + 14 2157 c.1308T>C c.(1306-1308)GCT>GCC p.A436A TLE4_uc004alc.2_Silent_p.A411A|TLE4_uc010mpr.2_Silent_p.A290A|TLE4_uc004ale.2_Silent_p.A48A|TLE4_uc011lsq.1_Silent_p.A379A|TLE4_uc010mps.2_Silent_p.A335A|TLE4_uc004alf.2_Silent_p.A350A NM_007005 NP_008936 O60756 BCE1_HUMAN transducin-like enhancer protein 4 Error:Variant_position_missing_in_O60756_after_alignment lung(2)|ovary(1)|breast(1)|skin(1) 5 ccgccgccgctgctgctgctg 0.433000 PTPDC1 138639 broad.mit.edu 37 9 96859844 96859844 + Missense_Mutation SNP G G T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr9:96859844G>T uc004auf.1 + 7 1174 c.834G>T c.(832-834)GAG>GAT p.E278D PTPDC1_uc004aug.1_Missense_Mutation_p.E278D|PTPDC1_uc004auh.1_Missense_Mutation_p.E330D|PTPDC1_uc010mrj.1_Missense_Mutation_p.E332D|PTPDC1_uc010mri.1_Missense_Mutation_p.E330D NM_177995 NP_818931 A2A3K4 PTPC1_HUMAN protein tyrosine phosphatase domain containing 1 278 protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(1) 1 ATGGTTATGAGGCACGACTTC 0.468000 ZNF462 58499 broad.mit.edu 37 9 109687613 109687613 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr9:109687613G>A uc004bcz.2 + 3 1709 c.1420G>A c.(1420-1422)GAA>AAA p.E474K ZNF462_uc010mto.2_Missense_Mutation_p.E322K|ZNF462_uc004bda.2_Missense_Mutation_p.E322K NM_021224 NP_067047 Q96JM2 ZN462_HUMAN zinc finger protein 462 474 C2H2-type 5. transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(5) 5 CAAATGTGACGAATGTCCGTT 0.473000 MUSK 4593 broad.mit.edu 37 9 113550073 113550073 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr9:113550073G>A uc004bey.2 + 13 1980 c.1882G>A c.(1882-1884)GCC>ACC p.A628T MUSK_uc004bez.1_Missense_Mutation_p.A208T NM_005592 NP_005583 O15146 MUSK_HUMAN skeletal muscle receptor tyrosine kinase 628 Protein kinase.|Cytoplasmic (Potential). transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity lung(3)|ovary(2)|central_nervous_system(1) 6 GAGGGAGGCAGCCCTCATGGC 0.438000 DAB2IP 153090 broad.mit.edu 37 9 124530798 124530798 + Silent SNP C C A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr9:124530798C>A uc004bln.2 + 10 1770 c.1701C>A c.(1699-1701)ATC>ATA p.I567I DAB2IP_uc004blo.2_Silent_p.I471I|DAB2IP_uc004blp.2_Silent_p.I22I NM_032552 NP_115941 Q5VWQ8 DAB2P_HUMAN disabled homolog 2 interacting protein isoform 595 activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter cytoplasm|intrinsic to internal side of plasma membrane 14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity ovary(1)|central_nervous_system(1) 2 TGCTGGAGATCTCCAACCCCG 0.587000 NEK6 10783 broad.mit.edu 37 9 127089652 127089652 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr9:127089652G>A uc004bog.2 + 7 699 c.550G>A c.(550-552)GGC>AGC p.G184S NEK6_uc004bof.2_Missense_Mutation_p.G202S|NEK6_uc004boh.2_Missense_Mutation_p.G218S|NEK6_uc010mwj.2_Missense_Mutation_p.G137S|NEK6_uc010mwk.2_Missense_Mutation_p.G184S|NEK6_uc004boi.2_Missense_Mutation_p.G184S NM_014397 NP_055212 Q9HC98 NEK6_HUMAN NIMA-related kinase 6 isoform 2 184 Protein kinase. apoptosis|cell division|chromosome segregation|mitosis|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of mitotic metaphase/anaphase transition cytoplasm|nucleus ATP binding|kinesin binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity|signal transducer activity ovary(2)|kidney(1) 3 CACAGCCACGGGCGTCGTGAA 0.627000 GOLGA1 2800 broad.mit.edu 37 9 127644063 127644063 + Missense_Mutation SNP C C A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr9:127644063C>A uc004bpc.2 - 21 2478 c.2136G>T c.(2134-2136)GAG>GAT p.E712D GOLGA1_uc010mws.2_RNA NM_002077 NP_002068 Q92805 GOGA1_HUMAN golgin 97 712 GRIP. Golgi cisterna membrane ovary(1) 1 AGCCCTTTACCTCGGATTCGC 0.502000 C9orf119 375757 broad.mit.edu 37 9 131038469 131038469 + Missense_Mutation SNP C C A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr9:131038469C>A uc004bup.2 + 1 45 c.45C>A c.(43-45)AGC>AGA p.S15R GOLGA2_uc011maw.1_5'Flank|GOLGA2_uc010mxw.2_5'Flank|GOLGA2_uc004bul.1_5'Flank|C9orf119_uc010mxx.1_Missense_Mutation_p.S15R NM_001040011 NP_001035100 Q1ZZU3 SWI5_HUMAN hypothetical protein LOC375757 15 double-strand break repair via homologous recombination Swi5-Sfr1 complex protein binding 0 ACAACAAAAGCTGCGCACGCA 0.632000 RAPGEF1 2889 broad.mit.edu 37 9 134459791 134459791 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr9:134459791C>T uc004cbc.2 - 21 2893 c.2763G>A c.(2761-2763)CGG>CGA p.R921R RAPGEF1_uc004cbb.2_Silent_p.R939R NM_005312 NP_005303 Q13905 RPGF1_HUMAN guanine nucleotide-releasing factor 2 isoform a 921 Ras-GEF. activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|endosome guanyl-nucleotide exchange factor activity|SH3 domain binding lung(3)|ovary(2)|breast(1)|skin(1) 7 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364) TATTCAGCTTCCGCAAGTGCT 0.642000 BARHL1 56751 broad.mit.edu 37 9 135458453 135458453 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr9:135458453G>A uc004cbp.1 + 1 461 c.269G>A c.(268-270)CGC>CAC p.R90H NM_020064 NP_064448 Q9BZE3 BARH1_HUMAN BarH-like homeobox 1 90 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05) GCCCAGTCGCGCACCGTCACC 0.687000 RALGDS 5900 broad.mit.edu 37 9 135977061 135977061 + Missense_Mutation SNP G G A rs143871051 byFrequency TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr9:135977061G>A uc004cco.2 - 16 2320 c.2300C>T c.(2299-2301)ACG>ATG p.T767M RALGDS_uc004cct.1_5'Flank|RALGDS_uc004ccn.2_Translation_Start_Site|RALGDS_uc004ccp.2_RNA|RALGDS_uc004ccq.2_Missense_Mutation_p.T755M|RALGDS_uc004ccr.2_Missense_Mutation_p.T766M|RALGDS_uc011mcv.1_Missense_Mutation_p.T738M|RALGDS_uc004ccs.2_Missense_Mutation_p.T712M|RALGDS_uc011mcw.1_Missense_Mutation_p.T838M|RALGDS_uc004ccv.1_Silent_p.H594H|RALGDS_uc004ccu.1_Missense_Mutation_p.T536M NM_006266 NP_006257 Q12967 GNDS_HUMAN ral guanine nucleotide dissociation stimulator 767 nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol Ral guanyl-nucleotide exchange factor activity large_intestine(1)|lung(1)|ovary(1) 3 OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05) AGCCACGGGCGTGGTGGAGGC 0.652000 T CIITA PMBL|Hodgkin Lymphona| KCNT1 57582 broad.mit.edu 37 9 138650317 138650317 + Missense_Mutation SNP A A G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr9:138650317A>G uc011mdq.1 + 10 891 c.817A>G c.(817-819)ATC>GTC p.I273V KCNT1_uc011mdr.1_Missense_Mutation_p.I100V|KCNT1_uc010nbf.2_Missense_Mutation_p.I225V|KCNT1_uc004cgo.1_Missense_Mutation_p.I22V NM_020822 NP_065873 Q5JUK3 KCNT1_HUMAN potassium channel, subfamily T, member 1 273 membrane binding|calcium-activated potassium channel activity large_intestine(2)|ovary(1)|pancreas(1) 4 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) CCAGGTCCTCATCCTCTTCTG 0.627000 PPP2R3B 28227 broad.mit.edu 37 X 295141 295141 + Silent SNP G G A rs144810281 TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chrX:295141G>A uc004cpg.2 - 13 1890 c.1689C>T c.(1687-1689)TAC>TAT p.Y563Y PPP2R3B_uc004cpf.2_Silent_p.Y164Y NM_013239 NP_037371 Q9Y5P8 P2R3B_HUMAN protein phosphatase 2, regulatory subunit B'', 563 cell cycle arrest|protein dephosphorylation nucleus|protein phosphatase type 2A complex calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity 0 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) ATGCGTACTCGTACAGGTCCA 0.741000 PIGA 5277 broad.mit.edu 37 X 15349629 15349629 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chrX:15349629C>T uc004cwr.2 - 2 524 c.424G>A c.(424-426)GCC>ACC p.A142T PIGA_uc004cwq.2_Intron|PIGA_uc010nev.2_Intron|PIGA_uc004cws.2_Intron|PIGA_uc011miq.1_Intron|PIGA_uc010new.1_Intron NM_002641 NP_002632 P37287 PIGA_HUMAN phosphatidylinositol 142 Cytoplasmic (Potential). C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding 0 Hepatocellular(33;0.183) ATTGTCTTGGCGTGGAAGAGA 0.468000 MAGEB16 139604 broad.mit.edu 37 X 35821242 35821242 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chrX:35821242C>T uc010ngt.1 + 2 1208 c.929C>T c.(928-930)GCG>GTG p.A310V NM_001099921 NP_001093391 A2A368 MAGBG_HUMAN melanoma antigen family B, 16 310 MAGE. lung(3)|ovary(2)|breast(1)|skin(1) 7 TCTCAGTATGCGGAAGCTCTG 0.498000 CASK 8573 broad.mit.edu 37 X 41379720 41379720 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chrX:41379720G>A uc004dfl.3 - 27 2765 c.2719C>T c.(2719-2721)CTC>TTC p.L907F CASK_uc004dfj.3_Missense_Mutation_p.L452F|CASK_uc004dfk.3_Missense_Mutation_p.L727F|CASK_uc004dfm.3_Missense_Mutation_p.L884F|CASK_uc004dfn.3_Missense_Mutation_p.L883F NM_003688 NP_003679 O14936 CSKP_HUMAN calcium/calmodulin-dependent serine protein 912 cell adhesion actin cytoskeleton|cytoplasm|nucleus|plasma membrane ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity ovary(3)|lung(2)|stomach(1) 6 GTGCACACGAGCTCAACAGCT 0.473000 SUV39H1 6839 broad.mit.edu 37 X 48564698 48564698 + Missense_Mutation SNP G G T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chrX:48564698G>T uc004dkn.2 + 4 916 c.871G>T c.(871-873)GAC>TAC p.D291Y SUV39H1_uc011mmf.1_Missense_Mutation_p.D302Y|SUV39H1_uc011mmg.1_RNA NM_003173 NP_003164 O43463 SUV91_HUMAN suppressor of variegation 3-9 homolog 1 291 Mediates interaction with MECOM (By similarity).|SET. cell cycle|cell differentiation|chromatin silencing at rDNA|interspecies interaction between organisms|rRNA processing|transcription, DNA-dependent chromatin silencing complex|chromosome, centromeric region|condensed nuclear chromosome|rDNA heterochromatin chromatin binding|histone methyltransferase activity (H3-K9 specific)|protein N-terminus binding|zinc ion binding 0 CCAGATCTACGACCGTCAGGG 0.587000 WNK3 65267 broad.mit.edu 37 X 54276024 54276024 + Missense_Mutation SNP C C A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chrX:54276024C>A uc004dtd.1 - 17 3196 c.2757G>T c.(2755-2757)TTG>TTT p.L919F WNK3_uc004dtc.1_Missense_Mutation_p.L919F NM_001002838 NP_001002838 Q9BYP7 WNK3_HUMAN WNK lysine deficient protein kinase 3 isoform 2 919 intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity lung(4)|ovary(3)|kidney(2)|central_nervous_system(2) 11 CTATAGTGAGCAATGTGTCCC 0.398000 UBQLN2 29978 broad.mit.edu 37 X 56591820 56591820 + Missense_Mutation SNP T T C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chrX:56591820T>C uc004dus.2 + 1 1749 c.1514T>C c.(1513-1515)GTC>GCC p.V505A UBQLN2_uc011moq.1_Intron NM_013444 NP_038472 Q9UHD9 UBQL2_HUMAN ubiquilin 2 505 5.|12 X 3 AA tandem repeats of P-X-X. cytoplasm|nucleus|plasma membrane binding ovary(1)|skin(1) 2 GGCCCTATAGTCCCTTTTACC 0.662000 RGAG4 340526 broad.mit.edu 37 X 71351350 71351350 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chrX:71351350G>A uc010nlh.1 - 1 402 c.41C>T c.(40-42)GCG>GTG p.A14V NHSL2_uc011mqa.1_Intron|RGAG4_uc004eaj.1_RNA|NHSL2_uc004eak.1_5'Flank|NHSL2_uc010nli.2_5'Flank NM_001024455 NP_001019626 Q5HYW3 RGAG4_HUMAN retrotransposon gag domain containing 4 14 ovary(2)|skin(1) 3 Renal(35;0.156) GGCCACATTCGCCATGCGGAG 0.612000 ERCC6L 54821 broad.mit.edu 37 X 71427426 71427426 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chrX:71427426C>T uc004eaq.1 - 2 1288 c.1191G>A c.(1189-1191)ACG>ACA p.T397T PIN4_uc004eao.1_Intron|ERCC6L_uc004eap.1_Silent_p.T274T NM_017669 NP_060139 Q2NKX8 ERC6L_HUMAN excision repair protein ERCC6-like 397 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol ATP binding|DNA binding|helicase activity|protein binding ovary(3) 3 Renal(35;0.156) AAGGTGAGCGCGTCTCCATTA 0.403000 CDX4 1046 broad.mit.edu 37 X 72674374 72674374 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chrX:72674374C>T uc011mqk.1 + 3 808 c.808C>T c.(808-810)CGT>TGT p.R270C NM_005193 NP_005184 O14627 CDX4_HUMAN caudal type homeobox 4 270 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Renal(35;0.156) ATCTGCTGTTCGTGGATTTCA 0.433000 SATL1 340562 broad.mit.edu 37 X 84363384 84363384 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chrX:84363384G>A uc011mqx.1 - 1 591 c.591C>T c.(589-591)GGC>GGT p.G197G SATL1_uc004een.2_Silent_p.G197G NM_001163541 NP_001157013 Q86VE3 SATL1_HUMAN spermidine/spermine N1-acetyl transferase-like 1 10 Gln-rich. N-acetyltransferase activity breast(2) 2 GTTGTTGCACGCCTGGTTGCC 0.572000 TRMT2B 79979 broad.mit.edu 37 X 100274338 100274338 + Missense_Mutation SNP A A G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chrX:100274338A>G uc004egq.2 - 11 1522 c.1223T>C c.(1222-1224)CTG>CCG p.L408P TRMT2B_uc004egp.2_RNA|TRMT2B_uc004egr.2_Missense_Mutation_p.L408P|TRMT2B_uc004egs.2_Missense_Mutation_p.L408P|TRMT2B_uc004egt.2_Missense_Mutation_p.L408P|TRMT2B_uc004egu.2_Missense_Mutation_p.L289P|TRMT2B_uc004egv.2_Missense_Mutation_p.L363P NM_024917 NP_079193 Q96GJ1 TRM2_HUMAN TRM2 tRNA methyltransferase 2 homolog B 408 tRNA (uracil-5-)-methyltransferase activity ovary(1) 1 TGACTTTAGCAGCCCTGGCAA 0.483000 TCEAL6 158931 broad.mit.edu 37 X 101396155 101396155 + Missense_Mutation SNP G G T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chrX:101396155G>T uc004eiq.2 - 3 310 c.149C>A c.(148-150)GCT>GAT p.A50D NM_001006938 NP_001006939 Q6IPX3 TCAL6_HUMAN transcription elongation factor A (SII)-like 6 50 Glu-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(1) 1 ctctccctcagcctttcgctt 0.214000 MYLK 4638 broad.mit.edu 37 3 123368044 123368044 + Splice_Site DEL G G - rs138786404 TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr3:123368043_123368043TG>T uc003ego.3 - 25 4571 c.4289_splice c.e25-1 p.E1430_splice MYLK_uc010hrr.3_Splice_Site|MYLK_uc011bjv.2_Splice_Site_p.E230_splice|MYLK_uc011bjw.2_Splice_Site_p.E1430_splice|MYLK_uc003egp.3_Splice_Site_p.E1361_splice|MYLK_uc003egq.3_Splice_Site_p.E1430_splice|MYLK_uc003egr.3_Splice_Site_p.E1361_splice|MYLK_uc003egs.3_Splice_Site_p.E1254_splice NM_053025 NP_444253 Q15746 MYLK_HUMAN Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA. 1430 Actin-binding (calcium/calmodulin- insensitive) (By similarity). aorta smooth muscle tissue morphogenesis|muscle contraction cytosol ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) CCTTCGGCTCTGGGGGGGGCA 0.622 UHRF1BP1L 23074 broad.mit.edu 37 12 100451350 100451350 + Splice_Site DEL T T - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr12:100451349_100451349CT>C uc001tgq.3 - 15 3653 c.3424_splice c.e15+1 p.G1142_splice UHRF1BP1L_uc001tgp.3_Splice_Site_p.G792_splice NM_015054 NP_055869 A0JNW5 UH1BL_HUMAN Homo sapiens UHRF1 binding protein 1-like (UHRF1BP1L), transcript variant 1, mRNA. 1142 breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 50 ATAACTTTACCTTTTTCCAAA 0.328 SYCP2 10388 broad.mit.edu 37 20 58494655 58494655 + Splice_Site DEL A A - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr20:58494654_58494654TA>T uc002yaz.3 - 5 437 c.298_splice c.e5-1 p.M100_splice SYCP2_uc010gju.1_Splice_Site_p.M1_splice NM_014258 NP_055073 Q9BX26 SYCP2_HUMAN Homo sapiens synaptonemal complex protein 2 (SYCP2), mRNA. 100 cell division|meiotic prophase I|synaptonemal complex assembly DNA binding NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;1.19e-09) GGCAACCATGTAAAAAAAGGA 0.294 PKP3 11187 broad.mit.edu 37 11 399184 399184 + Frame_Shift_Del DEL A A - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr11:399184delA uc001lpc.2 + 5 1337 c.1261delA c.(1261-1263)AAAfs p.K421fs NM_007183 NP_009114 Q9Y446 PKP3_HUMAN plakophilin 3 421 ARM 3. cell adhesion desmosome|nucleus binding skin(1) 1 all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) TGAGCTTCGCAAAAATGTCAC 0.353 BCL9 607 broad.mit.edu 37 1 147091501 147091502 + Frame_Shift_Ins INS - - C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr1:147091500_147091501A>AC uc001epq.3 + 7 2279_2280 c.1539_1540A>AC c.(1537-1542)ggacccfs p.G513fs BCL9_uc010ozr.1_Frame_Shift_Ins_p.G439fs NM_004326 NP_004317 O00512 BCL9_HUMAN Homo sapiens B-cell CLL/lymphoma 9 (BCL9), mRNA. 513 Pro-rich. Wnt receptor signaling pathway nucleus protein binding breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 7 all_hematologic(923;0.115) TGGTCCGAGGACCCCCCCCTCC 0.579 T """IGH@, IGL@""" B-ALL ADAMTSL4 54507 broad.mit.edu 37 1 150530506 150530507 + Frame_Shift_Ins INS - - G rs149280379 TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr1:150530505_150530506T>TG uc009wlw.3 + 13 2489_2490 c.2331_2332T>TG c.(2329-2334)tttgggfs p.F777fs ADAMTSL4_uc001euw.3_Frame_Shift_Ins_p.F754fs|ADAMTSL4_uc001eux.3_Frame_Shift_Ins_p.F754fs|ADAMTSL4_uc010pcg.2_Frame_Shift_Ins_p.F715fs|ADAMTSL4_uc009wlx.3_5'UTR NM_019032 NP_061905 Q6UY14 ATL4_HUMAN Homo sapiens ADAMTS-like 4 (ADAMTSL4), transcript variant 1, mRNA. 754 TSP type-1 2. apoptosis|positive regulation of apoptosis metalloendopeptidase activity|protease binding p.F754L(1) breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3) 32 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) GGCAGGAATTTGGGGGGGGTGG 0.693 ABL2 27 broad.mit.edu 37 1 179077894 179077895 + Frame_Shift_Ins INS - - T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr1:179077893_179077894A>AT uc001gmj.4 - 11 2795_2796 c.2508_2509T>AT c.(2506-2511)aaatcafs p.K836fs ABL2_uc010pnf.2_Frame_Shift_Ins_p.K733fs|ABL2_uc010png.2_Frame_Shift_Ins_p.K712fs|ABL2_uc010pnh.2_Frame_Shift_Ins_p.K815fs|ABL2_uc001gmg.4_Frame_Shift_Ins_p.K718fs|ABL2_uc001gmi.4_Frame_Shift_Ins_p.K821fs|ABL2_uc010pne.2_Frame_Shift_Ins_p.K697fs NM_007314 NP_009298 P42684 ABL2_HUMAN Homo sapiens v-abl Abelson murine leukemia viral oncogene homolog 2 (ABL2), transcript variant b, mRNA. 836 F-actin-binding (By similarity). axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction cytoskeleton|cytosol ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding p.K800fs*34(1) breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 65 Adenosine triphosphate(DB00171)|Dasatinib(DB01254) CTTTCCTCTGATTTTTTTGGAA 0.525 T ETV6 AML BCL11A 53335 broad.mit.edu 37 2 60689254 60689255 + Frame_Shift_Ins INS - - G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr2:60689253_60689254A>AG uc002sae.1 - 3 1021_1022 c.793_794T>CT c.(793-795)ctgfs p.L265fs BCL11A_uc002sab.3_Frame_Shift_Ins_p.L265fs|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Intron|BCL11A_uc010ypj.2_Frame_Shift_Ins_p.L231fs|BCL11A_uc002sad.1_Frame_Shift_Ins_p.L113fs|BCL11A_uc002saf.1_Frame_Shift_Ins_p.L231fs NM_022893 NP_075044 Q9H165 BC11A_HUMAN Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA. 265 Pro-rich. negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 59 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) TGGACTAAACAGGGGGGGAGTG 0.584 T IGH@ B-CLL AFTPH 54812 broad.mit.edu 37 2 64778861 64778862 + Frame_Shift_Ins INS - - A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr2:64778860_64778861T>TA uc002sdc.3 + 0 284_285 c.252_253T>TA c.(250-255)attaaafs p.I84fs AFTPH_uc002scz.3_Frame_Shift_Ins_p.I84fs|AFTPH_uc002sda.3_Frame_Shift_Ins_p.I84fs|AFTPH_uc002sdb.3_Frame_Shift_Ins_p.I84fs NM_203437 NP_982261 Q6ULP2 AFTIN_HUMAN Homo sapiens aftiphilin (AFTPH), transcript variant 1, mRNA. 84 protein transport AP-1 adaptor complex|cytosol|nucleus clathrin binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 35 TTAAGTCCATTAAAAATGGTAA 0.356 MAP2 4133 broad.mit.edu 37 2 210561667 210561668 + Frame_Shift_Ins INS - - A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr2:210561666_210561667T>TA uc002vde.1 + 8 4661_4662 c.4413_4414T>TA c.(4411-4416)gctaaafs p.A1471fs MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Frame_Shift_Ins_p.A1467fs NM_002374 NP_002365 P11137 MAP2_HUMAN Homo sapiens microtubule-associated protein 2 (MAP2), transcript variant 1, mRNA. 1471 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity p.T1474fs*14(1) breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 124 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) CTGAACTTGCTAAAAAAACAGA 0.366 DIS3L2 129563 broad.mit.edu 37 2 233194613 233194613 + Frame_Shift_Del DEL C C - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr2:233194612_233194612AC>A uc010fxz.3 + 14 2105 c.1829_1829AC>A c.(1828-1830)cacfs p.H610fs DIS3L2_uc002vsm.4_Non-coding_Transcript|DIS3L2_uc002vso.3_Non-coding_Transcript NM_152383 NP_689596 Q8IYB7 DI3L2_HUMAN Homo sapiens DIS3 mitotic control homolog (S. cerevisiae)-like 2 (DIS3L2), mRNA. 610 RNA binding|exonuclease activity|ribonuclease activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1) 40 all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136) Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149) CTGCGCCGGCACCCCCCGCCC 0.642 MLH1 4292 broad.mit.edu 37 3 37053348 37053348 + Frame_Shift_Del DEL A A - rs35847123 TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr3:37053347_37053347TA>T uc003cgl.3 + 6 780 c.582_582TA>T c.(580-582)gttfs p.V194fs MLH1_uc011aye.2_5'UTR|MLH1_uc011ayb.2_5'UTR|MLH1_uc010hge.3_Frame_Shift_Del_p.V194fs|MLH1_uc011ayc.2_Frame_Shift_Del_p.V96fs|MLH1_uc011ayd.2_5'UTR|MLH1_uc003cgo.3_5'UTR|MLH1_uc003cgn.4_5'UTR|MLH1_uc010hgg.1_5'Flank|MLH1_uc010hgh.1_5'Flank|MLH1_uc010hgi.1_5'Flank|MLH1_uc010hgj.1_5'Flank|MLH1_uc010hgk.3_5'Flank|MLH1_uc010hgl.1_5'Flank NM_000249 NP_001161091 P40692 MLH1_HUMAN Homo sapiens mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) (MLH1), transcript variant 1, mRNA. 194 mismatch repair|somatic hypermutation of immunoglobulin genes MutLalpha complex|MutLbeta complex|chiasma|synaptonemal complex ATP binding|ATPase activity|protein binding p.0?(1) NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 127 GTTTCTCAGTTAAAAAAGTAA 0.343 1 """D, Mis, N, F, S""" """colorectal, endometrial, ovarian, CNS""" """colorectal, endometrial, ovarian, CNS""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome ZNF197 10168 broad.mit.edu 37 3 44684226 44684226 + Frame_Shift_Del DEL A A - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr3:44684225_44684225GA>G uc003cnm.3 + 5 1809 c.1603_1603GA>G c.(1603-1605)gaafs p.E535fs ZNF197_uc003cnn.3_Intron|ZNF197_uc003cno.3_Intron|ZNF197_uc003cnp.3_Intron NM_006991 NP_008922 O14709 ZN197_HUMAN Homo sapiens zinc finger protein 197 (ZNF197), transcript variant 1, mRNA. 535 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1) 25 KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598) CCACTCTGGGGAAAAACCCTA 0.433 ADAMTS9 56999 broad.mit.edu 37 3 64532503 64532503 + Frame_Shift_Del DEL G G - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr3:64532502_64532502TG>T uc003dmg.3 - 31 5028 c.4996_4996CA>A c.(4996-4998)agtfs p.S1666fs ADAMTS9_uc011bfo.2_Frame_Shift_Del_p.S1638fs|ADAMTS9_uc011bfp.1_Frame_Shift_Del_p.S577fs NM_182920 NP_891550 Q9P2N4 ATS9_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA. 1666 TSP type-1 14. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) GGGTGAACACTGGGGGGCTGC 0.537 EPHA3 2042 broad.mit.edu 37 3 89468398 89468398 + Frame_Shift_Del DEL A A - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr3:89468397_89468397CA>C uc003dqy.3 + 10 2156 c.1931_1931CA>C c.(1930-1932)tcafs p.S644fs EPHA3_uc021xbf.1_Frame_Shift_Del_p.S644fs NM_005233 NP_005224 P29320 EPHA3_HUMAN Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA. 644 Protein kinase. extracellular region|integral to plasma membrane ATP binding NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) AAACTTCCTTCAAAAAAAGAG 0.393 TSP Lung(6;0.00050) ZBTB49 166793 broad.mit.edu 37 4 4303754 4303754 + Frame_Shift_Del DEL T T - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr4:4303753_4303753GT>G uc003ghu.3 + 2 365 c.190_190GT>G c.(190-192)gttfs p.V64fs ZBTB49_uc003ghv.3_Intron|ZBTB49_uc010icy.3_Non-coding_Transcript|ZBTB49_uc010icz.3_5'Flank NM_145291 NP_660334 Q6ZSB9 ZBT49_HUMAN Homo sapiens zinc finger and BTB domain containing 49 (ZBTB49), mRNA. 64 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 28 GAAGAATGATGTTTTTCACTT 0.353 PROL1 58503 broad.mit.edu 37 4 71275496 71275498 + In_Frame_Del DEL ACA ACA - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr4:71275495_71275497TACA>T uc003hfi.3 + 2 624_626 c.450_452TACA>T c.(448-453)gataca>gaTa p.T152del NM_021225 NP_067048 Q99935 PROL1_HUMAN Homo sapiens proline rich, lacrimal 1 (PROL1), mRNA. 152 Thr-rich. regulation of sensory perception of pain extracellular region endopeptidase inhibitor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3) 15 all_hematologic(202;0.196) CCACCGCAGATACAACAATCACC 0.443 CFI 3426 broad.mit.edu 37 4 110687927 110687927 + Frame_Shift_Del DEL T T - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr4:110687926_110687926AT>A uc011cft.2 - 1 320 c.112_112AT>T c.(112-114)tatfs p.Y38fs CFI_uc003hzr.4_Frame_Shift_Del_p.Y38fs NM_000204 NP_000195 P05156 CFAI_HUMAN Homo sapiens complement factor I (CFI), mRNA. 38 complement activation, classical pathway|innate immune response|proteolysis extracellular space|membrane scavenger receptor activity|serine-type endopeptidase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1) 27 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000331) AGGTGAGTATATTTTTTTGCT 0.398 APC 324 broad.mit.edu 37 5 112176676 112176677 + Frame_Shift_Ins INS - - A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr5:112176675_112176676C>CA uc003kpz.4 + 16 5577_5578 c.5384_5385C>CA c.(5383-5385)tcafs p.S1795fs APC_uc011cvt.2_Frame_Shift_Ins_p.S1777fs|APC_uc003kpy.4_Frame_Shift_Ins_p.S1795fs|APC_uc010jbz.3_Frame_Shift_Ins_p.S1512fs|APC_uc010jca.3_Frame_Shift_Ins_p.S1095fs NM_001127510 NP_001120982 P25054 APC_HUMAN Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA. 1795 Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.N1797fs*2(2)|p.K1192fs*3(1)|p.?(1) NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) AATGCAGACTCAAAAAATAATT 0.307 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) TCF7 6932 broad.mit.edu 37 5 133473765 133473765 + Frame_Shift_Del DEL C C - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr5:133473764_133473764GC>G uc003kyt.3 + 3 652 c.456_456GC>G c.(454-456)cagfs p.Q152fs TCF7_uc003kyv.3_Frame_Shift_Del_p.Q37fs|TCF7_uc003kyw.3_Frame_Shift_Del_p.Q37fs|TCF7_uc003kyu.2_Frame_Shift_Del_p.Q37fs|TCF7_uc003kyy.3_Frame_Shift_Del_p.Q37fs|TCF7_uc003kyx.3_5'UTR|TCF7_uc003kyz.3_Frame_Shift_Del_p.Q37fs|TCF7_uc003kza.3_Frame_Shift_Del_p.Q37fs NM_003202 NP_998813 P36402 TCF7_HUMAN Homo sapiens transcription factor 7 (T-cell specific, HMG-box) (TCF7), transcript variant 1, mRNA. 152 Wnt receptor signaling pathway|cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus protein binding|transcription regulatory region DNA binding kidney(2)|large_intestine(7)|lung(2)|skin(1) 12 Breast(839;0.058) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) AGGCCAATCAGCCCCCCCACG 0.577 F13A1 2162 broad.mit.edu 37 6 6266965 6266965 + Frame_Shift_Del DEL C C - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr6:6266964_6266964GC>G uc003mwv.3 - 3 521 c.398_398GC>C c.(397-399)gccfs p.A133fs F13A1_uc011dib.2_Frame_Shift_Del_p.A70fs NM_000129 NP_000120 P00488 F13A_HUMAN Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA. 133 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity p.A133D(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 62 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) GACAATCTTGGCCCCCCACTT 0.493 HIST1H2BC 8347 broad.mit.edu 37 6 26123922 26123923 + Frame_Shift_Del DEL AT AT - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr6:26123921_26123922AAT>A uc003ngk.4 - 0 233_234 c.211_212ATT>T c.(211-213)tttfs p.F71fs HIST1H2BC_uc003ngl.3_Frame_Shift_Del_p.F71fs|HIST1H2AC_uc003ngm.3_5'Flank|HIST1H2AC_uc003ngo.3_5'Flank NM_003526 NP_003517 P62807 H2B1C_HUMAN Homo sapiens histone cluster 1, H2bc (HIST1H2BC), mRNA. 71 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(1) 16 GATGCGCTCAAATATGTCGTTA 0.564 HIST1H1D 3007 broad.mit.edu 37 6 26234932 26234932 + Frame_Shift_Del DEL T T - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr6:26234931_26234931GT>G uc003nhd.3 - 0 286 c.231_231AC>C c.(229-231)aacfs p.N77fs NM_005320 NP_005311 P16402 H13_HUMAN Homo sapiens histone cluster 1, H1d (HIST1H1D), mRNA. 77 H15. nucleosome assembly nucleosome|nucleus DNA binding breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 23 all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167) TACGGCTGTTGTTTTTTTCTA 0.527 DNAH8 1769 broad.mit.edu 37 6 38831685 38831697 + Frame_Shift_Del DEL AGTTTAACAGAAT AGTTTAACAGAAT - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr6:38831684_38831696GAGTTTAACAGAAT>G uc021yzh.1 + 44 6455_6467 c.6346_6358GAGTTTAACAGAAT>G c.(6346-6360)gagtttaacagaattfs p.E2116fs DNAH8_uc003ooe.2_Frame_Shift_Del_p.E1899fs NM_001206927 NP_001193856 Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA. NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 CTGTTTTGATGAGTTTAACAGAATTGAATTGCC 0.338 ENPP4 22875 broad.mit.edu 37 6 46107942 46107942 + Frame_Shift_Del DEL A A - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr6:46107941_46107941GA>G uc003oxy.3 + 1 880 c.621_621GA>G c.(619-621)ttgfs p.L207fs NM_014936 NP_055751 Q9Y6X5 ENPP4_HUMAN Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative) (ENPP4), mRNA. 207 integral to membrane hydrolase activity central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 18 GCAGAGTGTTGAAAAAAATAG 0.403 REV3L 5980 broad.mit.edu 37 6 111695299 111695299 + Frame_Shift_Del DEL A A - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr6:111695298_111695298CA>C uc003puy.4 - 12 4601 c.4260_4260TG>G c.(4258-4260)ttgfs p.L1420fs REV3L_uc003pux.4_Frame_Shift_Del_p.L1342fs|REV3L_uc003puz.4_Frame_Shift_Del_p.L1342fs NM_002912 NP_002903 O60673 DPOLZ_HUMAN Homo sapiens REV3-like, catalytic subunit of DNA polymerase zeta (yeast) (REV3L), mRNA. 1420 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 88 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) CTTTGCAATGCAAAAAATTAG 0.393 DNA polymerases (catalytic subunits) HNRNPA2B1 3181 broad.mit.edu 37 7 26236526 26236527 + Frame_Shift_Ins INS - - T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr7:26236525_26236526A>AT uc003sxr.4 - 4 628_629 c.412_413T>AT c.(412-414)attfs p.I138fs HNRNPA2B1_uc003sxs.4_Frame_Shift_Ins_p.I126fs NM_031243 NP_112533 P22626 ROA2_HUMAN Homo sapiens heterogeneous nuclear ribonucleoprotein A2/B1 (HNRNPA2B1), transcript variant B1, mRNA. 138 RRM 2. RNA transport catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm RNA binding|nucleotide binding|protein binding|single-stranded telomeric DNA binding HNRNPA2B1/ETV1(8) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 22 AATGGTATCAATTTTTCCATAT 0.381 T ETV1 prostate FIGNL1 63979 broad.mit.edu 37 7 50514060 50514060 + Frame_Shift_Del DEL T T - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr7:50514059_50514059CT>C uc003tpd.3 - 3 1297 c.927_927AG>G c.(925-927)aagfs p.K309fs FIGNL1_uc003tpb.3_Frame_Shift_Del_p.K198fs|FIGNL1_uc003tpc.3_Frame_Shift_Del_p.K309fs|FIGNL1_uc003tpe.3_Frame_Shift_Del_p.K309fs|FIGNL1_uc010kyy.3_Frame_Shift_Del_p.K309fs|FIGNL1_uc022ada.1_Frame_Shift_Del_p.K309fs NM_022116 NP_071399 Q6PIW4 FIGL1_HUMAN Homo sapiens fidgetin-like 1 (FIGNL1), transcript variant 2, mRNA. 309 ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle cytoplasm|nucleus ATP binding|magnesium ion binding|nucleoside-triphosphatase activity endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1) 29 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06) GTTGGTGGTACTTTTTTTGCT 0.428 RIMS2 9699 broad.mit.edu 37 8 104927779 104927779 + Frame_Shift_Del DEL A A - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr8:104927778_104927778TA>T uc003yls.3 + 4 1443 c.1202_1202TA>T c.(1201-1203)gtafs p.V401fs RIMS2_uc003ylp.3_Frame_Shift_Del_p.V623fs|RIMS2_uc003ylw.2_Frame_Shift_Del_p.V431fs|RIMS2_uc003ylq.3_Frame_Shift_Del_p.V431fs|RIMS2_uc003ylr.3_Frame_Shift_Del_p.V478fs|RIMS2_uc003ylt.3_Frame_Shift_Del_p.V24fs|RIMS2_uc003ylu.1_Frame_Shift_Del_p.V14fs|RIMS2_uc003ylv.1_Frame_Shift_Del_p.V14fs NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA. 701 intracellular protein transport cell junction|presynaptic membrane Rab GTPase binding|metal ion binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) ATTACTAAAGTAAAAAAAGGA 0.323 HNSCC(12;0.0054) ZHX2 22882 broad.mit.edu 37 8 123965545 123965546 + Frame_Shift_Ins INS - - A rs141456875 TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr8:123965544_123965545C>CA uc022bag.1 + 0 1794_1795 c.1794_1795C>CA c.(1792-1797)ggcaaafs p.G598fs ZHX2_uc003ypk.1_Frame_Shift_Ins_p.G598fs NM_014943 NP_055758 Q9Y6X8 ZHX2_HUMAN Homo sapiens zinc fingers and homeoboxes 2 (ZHX2), mRNA. 598 cytoplasm|nucleus|plasma membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1) 45 Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105) STAD - Stomach adenocarcinoma(47;0.00527) TGGGGTCTGGCAAAAAAGGCCA 0.574 ZNF623 9831 broad.mit.edu 37 8 144732383 144732384 + Frame_Shift_Ins INS - - AG TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr8:144732382_144732383C>CAG uc003yzd.2 + 0 429_430 c.340_341C>CAG c.(340-342)cagfs p.Q114fs ZNF623_uc011lkp.1_Frame_Shift_Ins_p.Q74fs|ZNF623_uc003yzc.2_Frame_Shift_Ins_p.Q74fs NM_014789 NP_055604 O75123 ZN623_HUMAN Homo sapiens zinc finger protein 623 (ZNF623), transcript variant 1, mRNA. 114 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.L113R(1) endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3) 27 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) TCTTCTGCTTCAGAGAGAGCTC 0.480 MPDZ 8777 broad.mit.edu 37 9 13125277 13125277 + Frame_Shift_Del DEL T T - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr9:13125276_13125276CT>C uc010mia.1 - 33 4803 c.4746_4746AG>G c.(4744-4746)aagfs p.K1582fs MPDZ_uc003zky.4_Frame_Shift_Del_p.K144fs|MPDZ_uc010mib.3_Frame_Shift_Del_p.K287fs|MPDZ_uc010mhx.3_Frame_Shift_Del_p.K404fs|MPDZ_uc011lmm.2_Frame_Shift_Del_p.K441fs|MPDZ_uc003zkz.4_Frame_Shift_Del_p.K275fs|MPDZ_uc010mhz.3_Frame_Shift_Del_p.K1549fs|MPDZ_uc011lmn.2_Frame_Shift_Del_p.K1549fs|MPDZ_uc010mhy.3_Frame_Shift_Del_p.K1582fs|MPDZ_uc003zlb.4_Frame_Shift_Del_p.K1582fs NM_003829 NP_003820 O75970 MPDZ_HUMAN Homo sapiens multiple PDZ domain protein (MPDZ), mRNA. 1582 interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2) 61 GBM - Glioblastoma multiforme(50;2.03e-06) GGGAGCTGTTCTTTTTTTCTC 0.512 TAF1L 138474 broad.mit.edu 37 9 32632794 32632794 + Frame_Shift_Del DEL A A - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr9:32632793_32632793CA>C uc003zrg.1 - 0 2875 c.2785_2785TG>G c.(2785-2787)gccfs p.A929fs AX747113_uc003zrh.1_5'Flank NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA. 929 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity p.A929S(2) breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) TCTTCTGGGGCAAAAAAGGAT 0.458 COL15A1 1306 broad.mit.edu 37 9 101748038 101748039 + Frame_Shift_Ins INS - - A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr9:101748037_101748038G>GA uc004azb.1 + 2 497_498 c.291_292G>GA c.(289-294)gtgaagfs p.V97fs NM_001855 NP_001846 P39059 COFA1_HUMAN Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA. 97 TSP N-terminal. angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 107 Acute lymphoblastic leukemia(62;0.0562) GCGTCGTGGTGAAGCCCAGCAG 0.634 IKBKAP 8518 broad.mit.edu 37 9 111681575 111681576 + Frame_Shift_Ins INS - - C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr9:111681574_111681575T>TC uc004bdm.4 - 6 1127_1128 c.607_608A>GA c.(607-609)gatfs p.D203fs IKBKAP_uc004bdl.3_5'Flank|IKBKAP_uc011lwc.2_Frame_Shift_Ins_p.D89fs|IKBKAP_uc010mtq.3_Intron NM_003640 NP_003631 O95163 ELP1_HUMAN Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein (IKBKAP), mRNA. 203 immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent DNA-directed RNA polymerase II, holoenzyme|cytoplasm|nucleolus|transcription elongation factor complex phosphorylase kinase regulator activity|protein binding|signal transducer activity NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 AAACTGTCCATCCCCCCGCCAG 0.386 DOLK 22845 broad.mit.edu 37 9 131708196 131708196 + Frame_Shift_Del DEL C C - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr9:131708195_131708195TC>T uc004bwr.3 - 0 1818 c.1388_1388GA>A c.(1387-1389)gagfs p.E463fs NUP188_uc004bws.1_5'Flank|NUP188_uc004bwq.1_Intron NM_014908 NP_055723 Q9UPQ8 DOLK_HUMAN Homo sapiens dolichol kinase (DOLK), mRNA. 463 CTP-binding. dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to endoplasmic reticulum membrane|membrane fraction dolichol kinase activity breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1) 11 CCAGCGGATCTCCCCCATGGT 0.547 ANK3 288 broad.mit.edu 37 10 61823946 61823946 + Frame_Shift_Del DEL T T - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr10:61823945_61823945AT>A uc001jky.3 - 38 12759 c.12421_12421AT>T c.(12421-12423)tggfs p.W4141fs ANK3_uc001jkw.3_Frame_Shift_Del_p.W662fs|ANK3_uc009xpa.3_Frame_Shift_Del_p.W662fs|ANK3_uc001jkx.3_Frame_Shift_Del_p.W706fs|ANK3_uc010qih.2_Frame_Shift_Del_p.W1529fs|ANK3_uc001jkz.4_Frame_Shift_Del_p.W1522fs|ANK3_uc001jkv.3_Frame_Shift_Del_p.W61fs NM_020987 NP_066267 Q12955 ANK3_HUMAN Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA. 4141 Death. establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 CTGGTAACCCATTTTTTTAAT 0.308 LZTS2 84445 broad.mit.edu 37 10 102762312 102762313 + Frame_Shift_Del DEL CT CT - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr10:102762311_102762312ACT>A uc001ksj.3 + 1 186_187 c.16_17ACT>A c.(16-18)actfs p.T6fs LZTS2_uc010qpw.2_Frame_Shift_Del_p.T6fs|LZTS2_uc001ksk.3_Frame_Shift_Del_p.T6fs|LZTS2_uc001ksl.3_Frame_Shift_Del_p.T6fs|LZTS2_uc001ksm.3_Non-coding_Transcript NM_032429 NP_115805 Q9BRK4 LZTS2_HUMAN Homo sapiens leucine zipper, putative tumor suppressor 2 (LZTS2), mRNA. 6 Required for centrosomal localization (By similarity). Wnt receptor signaling pathway|cell division|mitosis membrane|microtubule|microtubule organizing center breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 Epithelial(162;7.3e-09)|all cancers(201;3.72e-07) CATTGTGCAGACTCTGCCAGTG 0.639 DCLRE1A 9937 broad.mit.edu 37 10 115609826 115609826 + Frame_Shift_Del DEL T T - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr10:115609825_115609825GT>G uc001law.2 - 1 1957 c.1039_1039AC>C c.(1039-1041)cgafs p.R347fs NM_014881 NP_055696 Q6PJP8 DCR1A_HUMAN Homo sapiens DNA cross-link repair 1A (DCLRE1A), mRNA. 347 cell division|mitosis nucleus hydrolase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1) 31 Epithelial(162;0.0157)|all cancers(201;0.0171) GGACCATGTCGTTTTTTAAAA 0.408 Other identified genes with known or suspected DNA repair function TRUB1 142940 broad.mit.edu 37 10 116730192 116730192 + Frame_Shift_Del DEL C C - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr10:116730191_116730191GC>G uc001lcd.3 + 4 649 c.588_588GC>G c.(586-588)gtgfs p.V196fs TRUB1_uc010qsl.2_Frame_Shift_Del_p.V98fs|U6_uc021pzh.1_5'Flank NM_139169 NP_631908 Q8WWH5 TRUB1_HUMAN Homo sapiens TruB pseudouridine (psi) synthase homolog 1 (E. coli) (TRUB1), mRNA. 196 pseudouridine synthesis|tRNA processing RNA binding|pseudouridine synthase activity breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2) 12 Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245) Epithelial(162;0.00879)|all cancers(201;0.0243) TAATGCAAGTGCCCCCCCTGT 0.318 C10orf90 118611 broad.mit.edu 37 10 128193320 128193320 + Frame_Shift_Del DEL G G - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr10:128193319_128193319TG>T uc010qum.2 - 3 771 c.741_741CA>A c.(739-741)ccafs p.P247fs C10orf90_uc001ljp.3_Frame_Shift_Del_p.P103fs|C10orf90_uc001ljq.3_Frame_Shift_Del_p.P150fs|C10orf90_uc009yao.2_Frame_Shift_Del_p.P247fs|C10orf90_uc001ljs.1_Frame_Shift_Del_p.P103fs NM_001004298 NP_001004298 Q96M02 CJ090_HUMAN Homo sapiens chromosome 10 open reading frame 90 (C10orf90), mRNA. 150 NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203) COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479) GGGCGCGGGCTGGGGGGCCCA 0.697 OREG0020616 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) PTPRJ 5795 broad.mit.edu 37 11 48157816 48157816 + Frame_Shift_Del DEL G G - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr11:48157815_48157815TG>T uc001ngp.4 + 8 2195 c.1840_1840TG>T c.(1840-1842)tggfs p.W614fs PTPRJ_uc010rhr.1_Frame_Shift_Del_p.W59fs NM_002843 NP_002834 Q12913 PTPRJ_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, J (PTPRJ), transcript variant 1, mRNA. 614 Fibronectin type-III 6. contact inhibition|negative regulation of MAP kinase activity|negative regulation of T cell receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 GGACCACGTCTGGGGGGACCC 0.517 NUMA1 4926 broad.mit.edu 37 11 71724190 71724190 + Frame_Shift_Del DEL C C - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr11:71724189_71724189GC>G uc001orl.1 - 14 4532 c.4360_4360GC>C c.(4360-4362)ctgfs p.L1454fs NUMA1_uc009ysw.1_Frame_Shift_Del_p.L1017fs|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Frame_Shift_Del_p.L1454fs|NUMA1_uc001orn.2_Frame_Shift_Del_p.L1017fs|NUMA1_uc009ysx.1_Frame_Shift_Del_p.L1454fs|NUMA1_uc001oro.1_Frame_Shift_Del_p.L1454fs NM_006185 NP_006176 Q14980 NUMA1_HUMAN Homo sapiens nuclear mitotic apparatus protein 1 (NUMA1), mRNA. 1454 G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole protein binding|structural molecule activity central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 65 CGCTCACCCAGCCCCCGGTTC 0.627 T RARA APL TRIM29 23650 broad.mit.edu 37 11 120008403 120008403 + Frame_Shift_Del DEL C C - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr11:120008402_120008402GC>G uc001pwz.3 - 0 462 c.338_338GC>C c.(337-339)gctfs p.A113fs TRIM29_uc001pxa.3_Non-coding_Transcript NM_012101 NP_036233 Q14134 TRI29_HUMAN Homo sapiens tripartite motif containing 29 (TRIM29), mRNA. 113 transcription from RNA polymerase II promoter cytoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 30 Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.37e-06) CTTCTTGGCAGCCCCCAGCTG 0.597 MLL2 8085 broad.mit.edu 37 12 49447032 49447032 + Frame_Shift_Del DEL T T - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr12:49447031_49447031GT>G uc001rta.4 - 6 913 c.913_913AC>C c.(913-915)ccafs p.P305fs NM_003482 NP_003473 O14686 MLL2_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA. 305 Cys-rich. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5) 366 TCCATGGGTGGTTTTAGGCAG 0.478 """N, F, Mis""" """medulloblastoma, renal""" HNSCC(34;0.089) KRT79 338785 broad.mit.edu 37 12 53225246 53225246 + Frame_Shift_Del DEL C C - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr12:53225245_53225245TC>T uc001sbb.3 - 1 676 c.643_643GA>A c.(643-645)aggfs p.R215fs KRT79_uc001sba.3_5'Flank NM_175834 NP_787028 Q5XKE5 K2C79_HUMAN Homo sapiens keratin 79 (KRT79), mRNA. 215 Coil 1B.|Rod. keratin filament structural molecule activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 GAGTCCAGCCTCCCCCGCTCG 0.617 LGR5 8549 broad.mit.edu 37 12 71977713 71977713 + Frame_Shift_Del DEL T T - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr12:71977712_71977712GT>G uc001swl.3 + 17 1970 c.1922_1922GT>G c.(1921-1923)ggtfs p.G641fs LGR5_uc001swm.3_Frame_Shift_Del_p.G617fs|LGR5_uc021rar.1_Frame_Shift_Del_p.G569fs|LGR5_uc001swn.1_Intron NM_003667 NP_003658 O75473 LGR5_HUMAN Homo sapiens leucine-rich repeat containing G protein-coupled receptor 5 (LGR5), mRNA. 641 integral to plasma membrane protein-hormone receptor activity p.I640T(1) NUP107/LGR5(2) endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 48 CATGTCATTGGTTTTTTGTCC 0.493 UHRF1BP1L 23074 broad.mit.edu 37 12 100451350 100451350 + Splice_Site DEL T T - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr12:100451349_100451349CT>C uc001tgq.3 - 15 3653 c.3424_splice c.e15+1 p.G1142_splice UHRF1BP1L_uc001tgp.3_Splice_Site_p.G792_splice NM_015054 NP_055869 A0JNW5 UH1BL_HUMAN Homo sapiens UHRF1 binding protein 1-like (UHRF1BP1L), transcript variant 1, mRNA. 1142 breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 50 ATAACTTTACCTTTTTCCAAA 0.328 UTP20 27340 broad.mit.edu 37 12 101682763 101682764 + Frame_Shift_Ins INS - - A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr12:101682762_101682763T>TA uc001tia.1 + 5 696_697 c.540_541T>TA c.(538-543)cataaafs p.H180fs UTP20_uc009ztz.1_Frame_Shift_Ins_p.H180fs NM_014503 NP_055318 O75691 UTP20_HUMAN Homo sapiens UTP20, small subunit (SSU) processome component, homolog (yeast) (UTP20), mRNA. 180 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 TCCTGGCTCATAAAAAACTACA 0.277 C12orf51 283450 broad.mit.edu 37 12 112690349 112690350 + Frame_Shift_Ins INS - - G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr12:112690348_112690349A>AG uc021reb.1 - 22 3425_3426 c.3029_3030T>CT c.(3028-3030)cctfs p.P1010fs C12orf51_uc010syk.1_Intron|C12orf51_uc001tts.2_Intron|C12orf51_uc001ttt.3_Intron NM_001109662 NP_001103132 Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA. breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6) 100 AATTTAAGGAAGGGGGGGAAAT 0.396 UBC 7316 broad.mit.edu 37 12 125396267 125396267 + Frame_Shift_Del DEL C C - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr12:125396266_125396266AC>A uc001ugs.4 - 1 2510 c.2052_2052GT>T c.(2050-2052)ggtfs p.G684fs UBC_uc001ugr.3_Non-coding_Transcript|UBC_uc001ugt.3_Frame_Shift_Del_p.G532fs|UBC_uc001ugu.1_Frame_Shift_Del_p.G608fs|UBC_uc001ugv.3_Frame_Shift_Del_p.G152fs|UBC_uc021rge.1_Frame_Shift_Del_p.G684fs NM_021009 NP_066289 P0CG48 UBC_HUMAN Homo sapiens ubiquitin C (UBC), mRNA. 684 Ubiquitin-like 9. DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) AAACTTAGACACCCCCCCTCA 0.413 ZC3H13 23091 broad.mit.edu 37 13 46585554 46585554 + Frame_Shift_Del DEL T T - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr13:46585553_46585553CT>C uc010tfw.1 - 4 591 c.585_585AG>G c.(583-585)aagfs p.K195fs ZC3H13_uc001vas.1_Frame_Shift_Del_p.K195fs|ZC3H13_uc001vat.1_Frame_Shift_Del_p.K195fs NM_015070 NP_055885 Q5T200 ZC3HD_HUMAN Homo sapiens zinc finger CCCH-type containing 13 (ZC3H13), mRNA. 195 nucleic acid binding|zinc ion binding cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 79 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) AGCATACCTCCTTTTTAATGA 0.308 CTSH 1512 broad.mit.edu 37 15 79215392 79215392 + Frame_Shift_Del DEL T T - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr15:79215391_79215391AT>A uc021srk.1 - 10 973 c.876_876AT>T c.(874-876)aatfs p.N292fs CTSH_uc010unf.1_Non-coding_Transcript NM_004390 NP_004381 P09668 CATH_HUMAN Homo sapiens cathepsin H (CTSH), mRNA. 292 protein destabilization|proteolysis lysosome cysteine-type endopeptidase activity central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1) 10 AAGGGATCCCATTTTTTTCTC 0.473 ABCC1 4363 broad.mit.edu 37 16 16142120 16142121 + Frame_Shift_Ins INS - - C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr16:16142119_16142120G>GC uc010bvi.3 + 9 1514_1515 c.1339_1340G>GC c.(1339-1341)gccfs p.A447fs ABCC1_uc010bvj.3_Frame_Shift_Ins_p.A447fs|ABCC1_uc010bvk.3_Frame_Shift_Ins_p.A447fs|ABCC1_uc010bvl.3_Frame_Shift_Ins_p.A447fs|ABCC1_uc010bvm.3_Frame_Shift_Ins_p.A447fs|ABCC1_uc002del.4_Frame_Shift_Ins_p.A331fs|ABCC1_uc010bvn.3_Frame_Shift_Ins_p.A310fs NM_004996 NP_004987 P33527 MRP1_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 1 (ABCC1), transcript variant 1, mRNA. 447 ABC transmembrane type-1 1. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3) 56 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) GATCTGGTCAGCCCCCCTGCAA 0.545 PLA2G15 23659 broad.mit.edu 37 16 68289855 68289855 + Frame_Shift_Del DEL G G - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr16:68289854_68289854TG>T uc002evr.3 + 4 771 c.688_688TG>T c.(688-690)tggfs p.W230fs PLA2G15_uc010vld.2_Frame_Shift_Del_p.L188fs|PLA2G15_uc010vle.2_Frame_Shift_Del_p.W136fs|PLA2G15_uc010vlf.2_Intron|PLA2G15_uc002evs.3_Frame_Shift_Del_p.W51fs NM_012320 NP_036452 Q8NCC3 PAG15_HUMAN Homo sapiens phospholipase A2, group XV (PLA2G15), mRNA. 230 fatty acid catabolic process extracellular region|lysosome lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1) 12 GGGTGCGCCCTGGGGGGGCGT 0.632 EFNB3 1949 broad.mit.edu 37 17 7612525 7612525 + Frame_Shift_Del DEL C C - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr17:7612524_7612524GC>G uc002gis.3 + 4 1050 c.653_653GC>G c.(652-654)ggcfs p.G218fs NM_001406 NP_001397 Q15768 EFNB3_HUMAN Homo sapiens ephrin-B3 (EFNB3), mRNA. 218 cell-cell signaling|interspecies interaction between organisms integral to plasma membrane ephrin receptor binding|transmembrane-ephrin receptor activity large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1) 8 all_cancers(10;1.14e-06)|Prostate(122;0.081) GGTGCTGAAGGCCCCCTGCCC 0.697 STAT5B 6777 broad.mit.edu 37 17 40370236 40370237 + Frame_Shift_Ins INS - - G rs144993426 TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr17:40370235_40370236T>TG uc002hzh.3 - 8 1271_1272 c.1102_1103A>CA c.(1102-1104)cagfs p.Q368fs STAT5B_uc002hzi.3_Frame_Shift_Ins_p.Q368fs NM_012448 NP_036580 P51692 STA5B_HUMAN Homo sapiens signal transducer and activator of transcription 5B (STAT5B), mRNA. 368 2-oxoglutarate metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cytosol|nucleoplasm calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.135) Dasatinib(DB01254) GGCCTTCACCTGGGGGGGGTTC 0.574 SEC14L1 6397 broad.mit.edu 37 17 75189591 75189591 + Frame_Shift_Del DEL A A - rs34381783 TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr17:75189590_75189590GA>G uc010dhc.3 + 5 753 c.433_433GA>G c.(433-435)gaafs p.E145fs SEC14L1_uc021udv.1_Frame_Shift_Del_p.E145fs|SEC14L1_uc021udw.1_Frame_Shift_Del_p.E145fs|SEC14L1_uc021udx.1_Frame_Shift_Del_p.E145fs|SEC14L1_uc002jto.3_Frame_Shift_Del_p.E145fs|SEC14L1_uc010wth.2_Frame_Shift_Del_p.E145fs|SEC14L1_uc002jtm.3_Frame_Shift_Del_p.E145fs|SEC14L1_uc010wti.2_Frame_Shift_Del_p.E111fs NM_001039573 NP_001191337 Q92503 S14L1_HUMAN Homo sapiens SEC14-like 1 (S. cerevisiae) (SEC14L1), transcript variant 2, mRNA. 145 PRELI/MSF1. transport Golgi apparatus|integral to membrane binding NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2) 31 AAGTACAGTGGAAAAAATTGC 0.378 ZNF20 7568 broad.mit.edu 37 19 12243916 12243917 + Frame_Shift_Ins INS - - GT TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr19:12243915_12243916A>AGT uc002mtg.2 - 7 1667_1668 c.1085_1086T>ACT c.(1084-1086)actfs p.T362fs ZNF20_uc002mte.2_Frame_Shift_Ins_p.T327fs|ZNF20_uc002mtf.2_Frame_Shift_Ins_p.T362fs|ZNF20_uc021upm.1_Frame_Shift_Ins_p.T359fs NM_021143 NP_066966 P17024 ZNF20_HUMAN Homo sapiens zinc finger protein 20 (ZNF20), transcript variant 1, mRNA. 362 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|lung(6) 8 GTTTATCCTCAGTGTGTGTCTT 0.455 ZNF626 199777 broad.mit.edu 37 19 20808338 20808338 + Frame_Shift_Del DEL T T - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr19:20808337_20808337CT>C uc002npb.1 - 3 496 c.346_346AG>G c.(346-348)ggafs p.G116fs ZNF626_uc002npc.1_Frame_Shift_Del_p.G40fs NM_001076675 NP_001070143 Q68DY1 ZN626_HUMAN Homo sapiens zinc finger protein 626 (ZNF626), transcript variant 1, mRNA. 116 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|lung(3)|skin(1) 6 CTTATACATCCTTTTTTTAAC 0.348 LMTK3 114783 broad.mit.edu 37 19 49000732 49000732 + Frame_Shift_Del DEL G G - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr19:49000731_49000731TG>T uc002pjk.3 - 11 3682 c.3682_3682CA>A c.(3682-3684)aagfs p.K1228fs NM_001080434 NP_001073903 Homo sapiens lemur tyrosine kinase 3 (LMTK3), mRNA. breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1) 16 all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231) CTCTCGGGCTTGGGGGGGTCC 0.706 ZIM3 114026 broad.mit.edu 37 19 57646555 57646556 + Frame_Shift_Ins INS - - T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr19:57646554_57646555A>AT uc002qnz.1 - 4 1536_1537 c.1150_1151T>AT c.(1150-1152)atcfs p.I384fs NM_052882 NP_443114 Q96PE6 ZIM3_HUMAN Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA. 384 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.K383Q(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 52 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CCCAGTATGGATTTTTTTATGT 0.391 TP53RK 112858 broad.mit.edu 37 20 45315634 45315634 + Frame_Shift_Del DEL G G - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr20:45315633_45315633AG>A uc002xsk.3 - 1 744 c.521_521CT>T c.(520-522)ctgfs p.L174fs SLC13A3_uc002xsg.2_5'Flank|SLC13A3_uc010gho.2_5'Flank|TP53RK_uc002xsj.3_3'UTR NM_033550 NP_291028 Q96S44 PRPK_HUMAN Homo sapiens TP53 regulating kinase (TP53RK), mRNA. 174 Protein kinase. lipopolysaccharide biosynthetic process membrane|nucleus ATP binding|p53 binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.L174fs*23(2) kidney(1)|large_intestine(1)|lung(4)|skin(1) 7 Myeloproliferative disorder(115;0.0122) CAGCTGTTCCAGGGGGGGTTT 0.493 PMEPA1 56937 broad.mit.edu 37 20 56227349 56227350 + Frame_Shift_Ins INS - - G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr20:56227348_56227349T>TG uc002xyq.3 - 3 1017_1018 c.624_625A>CA c.(622-627)cccagcfs p.P208fs PMEPA1_uc002xyr.3_Frame_Shift_Ins_p.P158fs|PMEPA1_uc002xys.3_Frame_Shift_Ins_p.P173fs|PMEPA1_uc002xyt.3_Frame_Shift_Ins_p.P158fs NM_020182 NP_954640 Q969W9 PMEPA_HUMAN Homo sapiens prostate transmembrane protein, androgen induced 1 (PMEPA1), transcript variant 1, mRNA. 208 androgen receptor signaling pathway integral to membrane|plasma membrane WW domain binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1) 16 GAGTTACTGCTGGGGGGGCAGG 0.683 SYCP2 10388 broad.mit.edu 37 20 58494655 58494655 + Splice_Site DEL A A - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chr20:58494654_58494654TA>T uc002yaz.3 - 5 437 c.298_splice c.e5-1 p.M100_splice SYCP2_uc010gju.1_Splice_Site_p.M1_splice NM_014258 NP_055073 Q9BX26 SYCP2_HUMAN Homo sapiens synaptonemal complex protein 2 (SYCP2), mRNA. 100 cell division|meiotic prophase I|synaptonemal complex assembly DNA binding NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;1.19e-09) GGCAACCATGTAAAAAAAGGA 0.294 SPIN3 169981 broad.mit.edu 37 X 57020676 57020676 + Frame_Shift_Del DEL T T - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chrX:57020675_57020675GT>G uc022bxv.1 - 0 706 c.706_706AC>C c.(706-708)cccfs p.P236fs SPIN3_uc004duu.4_Intron|SPIN3_uc004duw.4_Intron|SPIN3_uc004duv.4_Intron|SPIN3_uc010nkj.2_Frame_Shift_Del_p.P236fs|SPIN3_uc004dux.1_Frame_Shift_Del_p.P236fs NM_001010862 NP_001010862 Q5JUX0 SPIN3_HUMAN Homo sapiens spindlin family, member 3 (SPIN3), transcript variant 1, mRNA. 236 gamete generation central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1) 4 TACACAGAGGGTTTTGCTTCT 0.403 BCORL1 63035 broad.mit.edu 37 X 129190011 129190011 + Frame_Shift_Del DEL C C - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chrX:129190010_129190010TC>T uc022cdu.1 + 11 5079 c.5035_5035TC>T c.(5035-5037)tccfs p.S1679fs BCORL1_uc004evc.2_Frame_Shift_Del_p.S515fs NM_021946 NP_068765 Q5H9F3 BCORL_HUMAN Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA. 1679 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 75 GGACGACAGATCCCCCCCAGG 0.607 GPR112 139378 broad.mit.edu 37 X 135488065 135488065 + Frame_Shift_Del DEL T T - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 g.chrX:135488064_135488064AT>A uc004ezu.1 + 22 9159 c.8868_8868AT>A c.(8866-8868)gcafs p.A2956fs GPR112_uc010nsb.1_Frame_Shift_Del_p.A2751fs NM_153834 NP_722576 Q8IZF6 GP112_HUMAN Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA. 2956 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) GGGGGTTTGCATTTTTTGCTT 0.448