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 ACHILLES_Top_Genes CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut MIB2 142678 broad.mit.edu 37 1 1565853 1565853 + Silent SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:1565853C>G uc001agg.2 + 20 3112 c.2985C>G c.(2983-2985)CTC>CTG p.L995L MIB2_uc001agh.2_Silent_p.L981L|MIB2_uc001agi.2_Silent_p.L991L|MIB2_uc001agj.2_Silent_p.L836L|MIB2_uc001agk.2_Silent_p.L930L|MIB2_uc001agm.2_3'UTR|MIB2_uc010nyq.1_Silent_p.L951L|MIB2_uc009vkh.2_Silent_p.L801L|MIB2_uc001agn.2_Silent_p.L627L|MIB2_uc001ago.2_Silent_p.L78L|MMP23B_uc001agp.2_5'Flank|MMP23B_uc001agq.2_5'Flank|MMP23B_uc001agr.2_5'Flank|MMP23B_uc009vki.2_5'Flank NM_080875 NP_543151 Q96AX9 MIB2_HUMAN mindbomb homolog 2 995 RING-type 2. Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade endosome actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding 0 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) GCTCCGCGCTCAGCGCCTGCC 0.716 NA 6 12 0 0 0.001168 0 0 CDK11B 984 broad.mit.edu 37 1 1647827 1647827 + Missense_Mutation SNP T T A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:1647827T>A uc001agv.1 - 9 563 c.452A>T c.(451-453)CAG>CTG p.Q151L CDK11B_uc001ags.1_5'UTR|CDK11B_uc001agt.1_5'UTR|CDK11B_uc001aha.1_Missense_Mutation_p.Q117L|CDK11B_uc001agw.1_Missense_Mutation_p.Q106L|CDK11B_uc001agy.1_Missense_Mutation_p.Q140L|CDK11B_uc001agx.1_Missense_Mutation_p.Q140L|CDK11B_uc001agz.1_5'UTR|SLC35E2B_uc001ahh.3_Intron|SLC35E2_uc009vkm.1_Intron|CDK11A_uc009vkr.2_Missense_Mutation_p.Q139L|CDK11A_uc009vks.2_Missense_Mutation_p.Q149L|CDK11A_uc010nys.1_Missense_Mutation_p.Q139L|CDK11A_uc010nyt.1_Missense_Mutation_p.Q149L|CDK11A_uc010nyu.1_RNA|CDK11A_uc009vkt.1_Missense_Mutation_p.Q139L|CDK11A_uc009vku.1_Missense_Mutation_p.Q139L|CDK11A_uc009vkv.1_Missense_Mutation_p.Q149L|CDK11A_uc001aht.1_Missense_Mutation_p.Q139L|CDK11B_uc001ahu.1_Missense_Mutation_p.Q139L|CDK11B_uc001ahv.1_Missense_Mutation_p.Q149L|CDK11B_uc001ahw.1_Missense_Mutation_p.Q149L NM_033486 NP_277021 P21127 CD11B_HUMAN cell division cycle 2-like 1 (PITSLRE proteins) 151 Glu-rich. apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity|protein binding skin(1) 1 CCTTCTCTTCTGTCTTTCCCA 0.502 NA 8 73 0 0 0.014323 0 0 PANK4 55229 broad.mit.edu 37 1 2451331 2451331 + Silent SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:2451331C>T uc001ajm.1 - 6 771 c.762G>A c.(760-762)GTG>GTA p.V254V PANK4_uc010nza.1_Silent_p.V215V NM_018216 NP_060686 Q9NVE7 PANK4_HUMAN pantothenate kinase 4 254 coenzyme A biosynthetic process cytoplasm ATP binding|pantothenate kinase activity upper_aerodigestive_tract(1)|large_intestine(1)|ovary(1) 3 all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201) AGACGTCCCGCACCAGCATGT 0.682 NA 6 5 0 0 0.001168 0 0 MMEL1 79258 broad.mit.edu 37 1 2535350 2535350 + Silent SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:2535350C>T uc001ajy.2 - 11 1228 c.1014G>A c.(1012-1014)GAG>GAA p.E338E MMEL1_uc009vlg.1_RNA NM_033467 NP_258428 Q495T6 MMEL1_HUMAN membrane metallo-endopeptidase-like 1 338 Lumenal (Potential). proteolysis extracellular region|integral to membrane|intracellular membrane-bounded organelle metal ion binding|metalloendopeptidase activity 0 all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634) all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131) TTTGCAGCTCCTCCAGTCCCA 0.662 NA 21 87 0 0 0.003954 0 0 PRDM16 63976 broad.mit.edu 37 1 3328985 3328985 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:3328985G>T uc001akf.2 + 9 2304 c.2224G>T c.(2224-2226)GAC>TAC p.D742Y PRDM16_uc001akc.2_Missense_Mutation_p.D742Y|PRDM16_uc001akd.2_Missense_Mutation_p.D742Y|PRDM16_uc001ake.2_Missense_Mutation_p.D742Y|PRDM16_uc009vlh.2_Missense_Mutation_p.D443Y NM_022114 NP_071397 Q9HAZ2 PRD16_HUMAN PR domain containing 16 isoform 1 742 Mediates interaction with SKI and regulation of TGF-beta signaling.|Interaction with CTBP1 and CTBP2 (By similarity). brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 7 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) CCCCTTCACGGACCGAGCCCT 0.647 NA T EVI1 MDS|AML 42 42 4.42602e-33 6.19729e-33 0.00874 1 0 TP73 7161 broad.mit.edu 37 1 3649416 3649416 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:3649416C>T uc001akp.2 + 14 1794 c.1684C>T c.(1684-1686)CGC>TGC p.R562C TP73_uc001akq.2_Intron|TP73_uc001akr.2_Missense_Mutation_p.R513C|TP73_uc009vlk.1_3'UTR|TP73_uc001aks.2_3'UTR|TP73_uc010nzk.1_Missense_Mutation_p.R491C|TP73_uc010nzl.1_Missense_Mutation_p.R111C NM_005427 NP_005418 O15350 P73_HUMAN tumor protein p73 isoform a 562 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|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray chromatin|cytosol|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity ovary(1)|lung(1) 2 all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198) all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127) Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226) GCAGCTGCTCCGCTCTAGCAA 0.682 NA 20 13 0 0 0.010504 0 0 ACOT7 11332 broad.mit.edu 37 1 6453348 6453348 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:6453348C>A uc001amt.2 - 1 479 c.112G>T c.(112-114)GTC>TTC p.V38F ACOT7_uc010nzq.1_5'UTR|ACOT7_uc001amu.2_RNA|ACOT7_uc001amv.2_RNA NM_007274 NP_009205 O00154 BACH_HUMAN acyl-CoA thioesterase 7 isoform hBACHa Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment mitochondrion|nucleus carboxylesterase activity|fatty-acyl-CoA binding|palmitoyl-CoA hydrolase activity 0 Ovarian(185;0.0634)|all_lung(157;0.175) all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211) Epithelial(90;9.16e-37)|GBM - Glioblastoma multiforme(13;5.89e-29)|OV - Ovarian serous cystadenocarcinoma(86;7.63e-19)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;2.06e-05)|Kidney(185;7.74e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00129)|BRCA - Breast invasive adenocarcinoma(365;0.00132)|STAD - Stomach adenocarcinoma(132;0.00195)|READ - Rectum adenocarcinoma(331;0.0481) GGCGTCTCGACGTCTGGGCCC 0.756 GBM(74;673 1226 4974 11850 13190) NA 16 5 1.02788e-11 1.29444e-11 0.00499 1 0 TNFRSF25 8718 broad.mit.edu 37 1 6521752 6521752 + Silent SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:6521752G>C uc001ane.2 - 10 1084 c.996C>G c.(994-996)GGC>GGG p.G332G TNFRSF25_uc001ana.2_Silent_p.G149G|TNFRSF25_uc001anb.2_RNA|TNFRSF25_uc001anc.2_RNA|TNFRSF25_uc001and.2_Silent_p.G105G|TNFRSF25_uc009vlz.2_RNA|TNFRSF25_uc001anf.2_Silent_p.G295G|TNFRSF25_uc001ang.2_Silent_p.G287G|TNFRSF25_uc001anh.2_Silent_p.G341G NM_003790 NP_003781 Q93038 TNR25_HUMAN tumor necrosis factor receptor superfamily, 332 Death.|Cytoplasmic (Potential). apoptosis|induction of apoptosis by extracellular signals cytosol|extracellular region|integral to plasma membrane tumor necrosis factor receptor activity central_nervous_system(2)|breast(1) 3 Ovarian(185;0.0386)|all_lung(157;0.154) all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448) Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419) AGAGCTGCGGGCCCGGCTGCA 0.711 NA 9 3 0 0 0.006214 0 0 CAMTA1 23261 broad.mit.edu 37 1 7805972 7805972 + Missense_Mutation SNP A A G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:7805972A>G uc001aoi.2 + 18 4645 c.4438A>G c.(4438-4440)AGT>GGT p.S1480G CAMTA1_uc001aok.3_Missense_Mutation_p.S523G|CAMTA1_uc001aoj.2_Missense_Mutation_p.S436G|CAMTA1_uc009vmf.2_Missense_Mutation_p.S70G NM_015215 NP_056030 Q9Y6Y1 CMTA1_HUMAN calmodulin-binding transcription activator 1 1480 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1) 9 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) CTCTCCCGTCAGTGAAATCGC 0.478 NA 30 103 0 0 0.010818 0 0 RERE 473 broad.mit.edu 37 1 8425882 8425882 + Silent SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:8425882G>A uc001ape.2 - 14 2247 c.1437C>T c.(1435-1437)TCC>TCT p.S479S RERE_uc001apf.2_Silent_p.S479S|RERE_uc010nzx.1_Silent_p.S211S|RERE_uc001apd.2_5'UTR NM_012102 NP_036234 Q9P2R6 RERE_HUMAN atrophin-1 like protein isoform a 479 multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) AGAATTCACTGGACGGGGGTC 0.637 NA 30 39 0 0 0.010818 0 0 SPSB1 80176 broad.mit.edu 37 1 9416304 9416304 + Silent SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:9416304G>C uc010oae.1 + 2 693 c.354G>C c.(352-354)GCG>GCC p.A118A SPSB1_uc001apv.2_Silent_p.A118A NM_025106 NP_079382 Q96BD6 SPSB1_HUMAN splA/ryanodine receptor domain and SOCS box 118 B30.2/SPRY. intracellular signal transduction cytoplasm 0 all_lung(157;0.194) all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419) TGGGGGTGGCGACGGCAGACG 0.662 NA 72 50 0 0 0.01441 0 0 MASP2 10747 broad.mit.edu 37 1 11087442 11087442 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:11087442C>T uc001aru.2 - 11 1582 c.1561G>A c.(1561-1563)GAA>AAA p.E521K NM_006610 NP_006601 O00187 MASP2_HUMAN mannan-binding lectin serine protease 2 isoform 521 Peptidase S1. complement activation, classical pathway|complement activation, lectin pathway|proteolysis extracellular region calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity ovary(2)|pancreas(1)|skin(1) 4 Ovarian(185;0.249) Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.071) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192) GTATAACCTTCATGTATAAAA 0.403 GBM(35;611 746 20780 22741 36496) NA 76 70 0 0 0.01441 0 0 MTOR 2475 broad.mit.edu 37 1 11297963 11297963 + Silent SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:11297963C>A uc001asd.2 - 13 2266 c.2145G>T c.(2143-2145)GTG>GTT p.V715V NM_004958 NP_004949 P42345 MTOR_HUMAN FK506 binding protein 12-rapamycin associated 715 cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2) 29 TGAGTCGGCCCACAGTGCAGA 0.577 NA 27 33 1.66031e-10 2.04129e-10 0.003954 1 0 VPS13D 55187 broad.mit.edu 37 1 12374318 12374318 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:12374318G>A uc001atv.2 + 30 7223 c.7082G>A c.(7081-7083)TGT>TAT p.C2361Y VPS13D_uc001atw.2_Missense_Mutation_p.C2361Y|VPS13D_uc001atx.2_Missense_Mutation_p.C1549Y|VPS13D_uc001aty.1_Missense_Mutation_p.C99Y NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13D isoform 1 2361 C -> R (in Ref. 6; CAE46021). protein localization ovary(4)|pancreas(1) 5 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) GTGTTCAGCTGTATCTTTCAG 0.493 NA 12 17 0 0 0.003163 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12885059 12885059 + Missense_Mutation SNP C C G rs143004725 by1000genomes TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:12885059C>G uc001auk.2 - 4 1248 c.1052G>C c.(1051-1053)TGC>TCC p.C351S NM_001146344 NP_001139816 O60813 PRA11_HUMAN PRAME family member 11 351 LRR 6. 0 GGTGGCCATGCAGATGGGATT 0.532 NA 4 165 0 0 0.001168 0 0 PADI2 11240 broad.mit.edu 37 1 17431488 17431488 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:17431488C>A uc001baf.2 - 2 243 c.161G>T c.(160-162)CGT>CTT p.R54L PADI2_uc010ocm.1_Missense_Mutation_p.R54L|PADI2_uc001bag.1_Missense_Mutation_p.R54L NM_007365 NP_031391 Q9Y2J8 PADI2_HUMAN peptidyl arginine deiminase, type II 54 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity ovary(3)|pancreas(1)|central_nervous_system(1)|skin(1) 6 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) L-Citrulline(DB00155) CTCCCCATCACGCACCACCTC 0.662 NA 39 21 1.04594e-18 1.40231e-18 0.00623 1 0 UBR4 23352 broad.mit.edu 37 1 19491400 19491400 + Silent SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:19491400G>C uc001bbi.2 - 32 4408 c.4404C>G c.(4402-4404)CTC>CTG p.L1468L UBR4_uc001bbm.1_Silent_p.L679L NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN retinoblastoma-associated factor 600 1468 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2) 25 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) TCATGCGGGTGAGCCAGGCCT 0.567 NA 41 80 0 0 0.00623 0 0 FAM43B 163933 broad.mit.edu 37 1 20879649 20879649 + Silent SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:20879649G>A uc001bdj.2 + 1 718 c.183G>A c.(181-183)CAG>CAA p.Q61Q NM_207334 NP_997217 Q6ZT52 FA43B_HUMAN family with sequence similarity 43, member B 61 0 Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00979)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000132)|Kidney(64;0.00016)|GBM - Glioblastoma multiforme(114;0.000399)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.195) GCCGGCGCCAGAAAGTGGAGC 0.692 NA 8 15 0 0 0.00308 0 0 KIF17 57576 broad.mit.edu 37 1 21036154 21036154 + Silent SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:21036154G>A uc001bdr.3 - 4 766 c.648C>T c.(646-648)ATC>ATT p.I216I KIF17_uc001bds.3_Silent_p.I216I NM_020816 NP_065867 Q9P2E2 KIF17_HUMAN kinesin family member 17 isoform a 216 Kinesin-motor. microtubule-based movement|protein transport cytoplasm|microtubule ATP binding ovary(3)|skin(1) 4 all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209) TCTCGATGCTGATGGTGAAGA 0.597 NA 16 72 0 0 0.003163 0 0 HSPG2 3339 broad.mit.edu 37 1 22180713 22180713 + Missense_Mutation SNP T T A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:22180713T>A uc001bfj.2 - 50 6452 c.6412A>T c.(6412-6414)ACC>TCC p.T2138S HSPG2_uc009vqd.2_Missense_Mutation_p.T2139S NM_005529 NP_005520 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 precursor 2138 Ig-like C2-type 6. 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) CCAGAATGGGTGCCGTGGAGC 0.617 NA 3 6 0 0 0.004672 0 0 HSPG2 3339 broad.mit.edu 37 1 22211041 22211041 + Missense_Mutation SNP T T C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:22211041T>C uc001bfj.2 - 13 1674 c.1634A>G c.(1633-1635)GAC>GGC p.D545G HSPG2_uc009vqd.2_Missense_Mutation_p.D546G NM_005529 NP_005520 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 precursor 545 Laminin IV type A 1. 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) ATCGGGTTGGTCAAAGCGCAG 0.662 NA 38 151 0 0 0.00874 0 0 MYOM3 127294 broad.mit.edu 37 1 24401952 24401952 + Silent SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:24401952G>A uc001bin.3 - 22 2878 c.2715C>T c.(2713-2715)ATC>ATT p.I905I MYOM3_uc001bim.3_Silent_p.I562I|MYOM3_uc001bio.2_Silent_p.I905I NM_152372 NP_689585 Q5VTT5 MYOM3_HUMAN myomesin family, member 3 905 skin(2)|ovary(1) 3 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) CACCAACCTCGATCTCATGGG 0.348 NA 8 36 0 0 0.004482 0 0 GPR3 2827 broad.mit.edu 37 1 27720714 27720714 + Silent SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:27720714C>T uc001bod.2 + 2 507 c.412C>T c.(412-414)CTG>TTG p.L138L NM_005281 NP_005272 P46089 GPR3_HUMAN G protein-coupled receptor 3 138 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway integral to plasma membrane ovary(1) 1 Breast(348;1.53e-05)|Ovarian(437;0.0606)|all_lung(284;0.157) UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.81e-26)|Colorectal(126;1.24e-08)|KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;4.45e-06)|Lung(427;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|LUSC - Lung squamous cell carcinoma(448;0.008)|READ - Rectum adenocarcinoma(331;0.0419) CTACCTTTCTCTGTACAATGC 0.592 NA 64 79 0 0 0.01441 0 0 PTPRU 10076 broad.mit.edu 37 1 29609316 29609316 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:29609316G>T uc001bru.2 + 12 2107 c.1997G>T c.(1996-1998)GGG>GTG p.G666V PTPRU_uc001brv.2_Missense_Mutation_p.G666V|PTPRU_uc001brw.2_Missense_Mutation_p.G666V|PTPRU_uc009vtq.2_Missense_Mutation_p.G666V|PTPRU_uc009vtr.2_Missense_Mutation_p.G666V NM_005704 NP_005695 Q92729 PTPRU_HUMAN protein tyrosine phosphatase, receptor type, U 666 Extracellular (Potential).|Fibronectin type-III 4. canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway cell-cell junction|integral to plasma membrane beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 7 Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871) CACTACTTCGGGGCCGAACTG 0.667 NA 48 67 1.19451e-25 1.64557e-25 0.01441 1 0 PUM1 9698 broad.mit.edu 37 1 31425212 31425212 + Splice_Site SNP T T G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:31425212T>G uc001bsi.1 - 16 2705 c.2592_splice c.e16-1 p.R864_splice PUM1_uc001bsf.1_Splice_Site_p.R530_splice|PUM1_uc001bsg.1_Splice_Site_p.R598_splice|PUM1_uc001bsh.1_Splice_Site_p.R864_splice|PUM1_uc001bsj.1_Splice_Site_p.R838_splice|PUM1_uc010oga.1_Splice_Site_p.R720_splice|PUM1_uc001bsk.1_Splice_Site_p.R900_splice|PUM1_uc010ogb.1_Splice_Site_p.R805_splice NM_014676 NP_055491 Q14671 PUM1_HUMAN pumilio 1 isoform 2 cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation cytosol RNA binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123) STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681) TGAATGAATCTGAAGTACAAA 0.473 NA 21 42 0 0 0.010504 0 0 KHDRBS1 10657 broad.mit.edu 37 1 32503611 32503611 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:32503611C>A uc001bub.2 + 6 1187 c.1081C>A c.(1081-1083)CCT>ACT p.P361T KHDRBS1_uc001bua.1_Missense_Mutation_p.P322T|KHDRBS1_uc001buc.1_RNA NM_006559 NP_006550 Q07666 KHDR1_HUMAN KH domain containing, RNA binding, signal 361 Pro-rich. cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent membrane|nucleus DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity ovary(1) 1 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) GCCTCCACCTCCTGCACCAGA 0.527 Ovarian(173;401 1982 12359 31110 42403) NA 16 104 3.41278e-10 4.18174e-10 0.00499 1 0 LCK 3932 broad.mit.edu 37 1 32739958 32739958 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:32739958G>A uc001bux.2 + 2 166 c.28G>A c.(28-30)GAA>AAA p.E10K LCK_uc001buy.2_Missense_Mutation_p.E10K|LCK_uc001buz.2_Missense_Mutation_p.E10K|LCK_uc010ohc.1_Missense_Mutation_p.E54K|LCK_uc001bva.2_Missense_Mutation_p.E10K NM_005356 NP_005347 P06239 LCK_HUMAN lymphocyte-specific protein tyrosine kinase 10 Interactions with CD4 and CD8 (By similarity). activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding lung(3)|central_nervous_system(2)|ovary(1) 6 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212) Dasatinib(DB01254) CTCACACCCGGAAGATGACTG 0.562 NA T TRB@ T-ALL 8 71 0 0 0.004482 0 0 S100PBP 64766 broad.mit.edu 37 1 33292344 33292344 + Nonsense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:33292344C>G uc001bvz.2 + 3 921 c.644C>G c.(643-645)TCA>TGA p.S215* S100PBP_uc001bwa.1_Nonsense_Mutation_p.S215*|S100PBP_uc001bwb.1_Nonsense_Mutation_p.S215*|S100PBP_uc001bwc.2_Nonsense_Mutation_p.S215*|S100PBP_uc001bwd.2_RNA NM_022753 NP_073590 Q96BU1 S1PBP_HUMAN S100P binding protein isoform a 215 nucleus calcium-dependent protein binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) CTCTCTTCTTCAAACAATAAC 0.443 NA 12 33 0 0 0.001855 0 0 CSMD2 114784 broad.mit.edu 37 1 34033349 34033349 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:34033349G>C uc001bxn.1 - 54 8184 c.8155C>G c.(8155-8157)CCT>GCT p.P2719A CSMD2_uc001bxm.1_Missense_Mutation_p.P2742A NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2719 Sushi 18.|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) ATGGGCTCAGGAGTCCCACAG 0.537 NA 4 19 0 0 0.009096 0 0 EPHA10 284656 broad.mit.edu 37 1 38188721 38188721 + Missense_Mutation SNP A A G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:38188721A>G uc009vvi.2 - 10 2038 c.1952T>C c.(1951-1953)CTT>CCT p.L651P EPHA10_uc001cbt.2_5'Flank|EPHA10_uc009vvh.1_RNA|EPHA10_uc001cbu.2_RNA|EPHA10_uc001cbv.1_RNA NM_001099439 NP_001092909 Q5JZY3 EPHAA_HUMAN EPH receptor A10 isofom 3 651 Cytoplasmic (Potential).|Protein kinase. extracellular region|integral to membrane|integral to plasma membrane ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity breast(4)|stomach(3)|lung(1) 8 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GCCTCCTCCAAGGCTCCTCTC 0.617 NA 27 56 0 0 0.007291 0 0 NASP 4678 broad.mit.edu 37 1 46056896 46056896 + Missense_Mutation SNP A A T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:46056896A>T uc001coi.1 + 2 163 c.61A>T c.(61-63)ATT>TTT p.I21F NASP_uc010olq.1_Missense_Mutation_p.I21F|NASP_uc001coh.1_5'UTR|NASP_uc001coj.1_Missense_Mutation_p.I21F|NASP_uc010olr.1_Missense_Mutation_p.I21F NM_002482 NP_002473 P49321 NASP_HUMAN nuclear autoantigenic sperm protein isoform 2 21 blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport cytoplasm|nucleus Hsp90 protein binding ovary(1) 1 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211) TTATTACAGAATTGAAGATGT 0.299 NA 3 44 0 0 0.004672 0 0 CYP4X1 260293 broad.mit.edu 37 1 47505153 47505153 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:47505153G>A uc001cqt.2 + 8 1272 c.1022G>A c.(1021-1023)AGA>AAA p.R341K CYP4X1_uc001cqr.2_Missense_Mutation_p.R340K|CYP4X1_uc001cqs.2_Missense_Mutation_p.R276K NM_178033 NP_828847 Q8N118 CP4X1_HUMAN cytochrome P450, family 4, subfamily X, 341 endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding ovary(1)|skin(1) 2 CATCAAGAGAGATGCCGGGAG 0.522 NA 17 29 0 0 0.008871 0 0 FOXE3 2301 broad.mit.edu 37 1 47882444 47882444 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:47882444G>T uc001crk.2 + 1 701 c.457G>T c.(457-459)GAC>TAC p.D153Y NM_012186 NP_036318 Q13461 FOXE3_HUMAN forkhead box E3 153 Fork-head. cell migration|embryonic organ morphogenesis|enteric nervous system development|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|pattern specification process|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thyroid gland development|thyroid hormone generation transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding 0 READ - Rectum adenocarcinoma(2;0.0908) CGCGGCCGCAGACATGTTCGA 0.557 NA 7 53 8.12818e-05 8.78788e-05 0.001984 1 0 USP1 7398 broad.mit.edu 37 1 62910485 62910485 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:62910485C>G uc001daj.1 + 6 962 c.634C>G c.(634-636)CAA>GAA p.Q212E USP1_uc001dak.1_Missense_Mutation_p.Q212E|USP1_uc001dal.1_Missense_Mutation_p.Q212E NM_001017415 NP_001017415 O94782 UBP1_HUMAN ubiquitin specific protease 1 212 DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process nucleoplasm cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(1) 1 all_neural(321;0.0281) BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535) GGGAAACATTCAAGAAACATG 0.338 Ovarian(122;1846 2315 3982 19504) NA 5 30 0 0 0.000602 0 0 JAK1 3716 broad.mit.edu 37 1 65321352 65321352 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:65321352C>G uc001dbu.1 - 11 1737 c.1488G>C c.(1486-1488)AAG>AAC p.K496N JAK1_uc009wam.1_Missense_Mutation_p.K484N NM_002227 NP_002218 P23458 JAK1_HUMAN janus kinase 1 496 SH2. interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway cytoskeleton|cytosol|endomembrane system|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity haematopoietic_and_lymphoid_tissue(34)|prostate(7)|soft_tissue(6)|lung(4)|breast(3)|central_nervous_system(2)|liver(2)|large_intestine(1)|stomach(1)|ovary(1) 61 BRCA - Breast invasive adenocarcinoma(111;0.0485) TCTGAAAGTTCTTGAACTGCT 0.468 NA Mis ALL 4 20 0 0 0.000602 0 0 DNAJC6 9829 broad.mit.edu 37 1 65849892 65849892 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:65849892C>T uc001dcd.1 + 6 676 c.512C>T c.(511-513)TCA>TTA p.S171L DNAJC6_uc001dcc.1_Missense_Mutation_p.S202L|DNAJC6_uc010opc.1_Missense_Mutation_p.S158L|DNAJC6_uc001dce.1_Missense_Mutation_p.S228L NM_014787 NP_055602 O75061 AUXI_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 6 171 Phosphatase tensin-type. 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 CGGGCGGCATCATCAATTCTG 0.403 NA 15 54 0 0 0.00245 0 0 ACADM 34 broad.mit.edu 37 1 76216217 76216217 + Nonsense_Mutation SNP A A T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:76216217A>T uc001dgw.3 + 10 1361 c.931A>T c.(931-933)AAG>TAG p.K311* ACADM_uc010ord.1_Nonsense_Mutation_p.K225*|ACADM_uc009wbp.2_Nonsense_Mutation_p.K315*|ACADM_uc009wbr.2_Nonsense_Mutation_p.K344*|ACADM_uc010ore.1_Nonsense_Mutation_p.K275*|ACADM_uc010orf.1_Nonsense_Mutation_p.K122*|ACADM_uc001dgx.3_Nonsense_Mutation_p.K225*|ACADM_uc010org.1_Nonsense_Mutation_p.K181*|ACADM_uc009wbs.1_RNA NM_000016 NP_000007 P11310 ACADM_HUMAN medium-chain acyl-CoA dehydrogenase isoform a 311 carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process mitochondrial matrix flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity breast(2)|ovary(1)|skin(1) 4 AACTTTCGGAAAGCTACTTGT 0.333 NA 7 11 0 0 0.001984 0 0 MSH4 4438 broad.mit.edu 37 1 76343962 76343962 + Missense_Mutation SNP T T A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:76343962T>A uc001dhd.1 + 11 1540 c.1499T>A c.(1498-1500)ATA>AAA p.I500K NM_002440 NP_002431 O15457 MSH4_HUMAN mutS homolog 4 500 chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding lung(3)|ovary(2) 5 TTTCTTGACATAGCAAGAAGA 0.348 NA MMR 9 14 0 0 0.006214 0 0 MSH4 4438 broad.mit.edu 37 1 76349447 76349447 + Missense_Mutation SNP T T A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:76349447T>A uc001dhd.1 + 15 2089 c.2048T>A c.(2047-2049)ATG>AAG p.M683K NM_002440 NP_002431 O15457 MSH4_HUMAN mutS homolog 4 683 ATP (Potential). chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding lung(3)|ovary(2) 5 GGACCAAACATGAGTGGAAAA 0.343 NA MMR 9 19 0 0 0.008291 0 0 TTLL7 79739 broad.mit.edu 37 1 84399443 84399443 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:84399443C>A uc001djc.2 - 9 1291 c.895G>T c.(895-897)GTG>TTG p.V299L TTLL7_uc001djb.2_RNA|TTLL7_uc001djd.2_RNA|TTLL7_uc001dje.2_RNA|TTLL7_uc001djf.2_RNA|TTLL7_uc001djg.2_RNA NM_024686 NP_078962 Q6ZT98 TTLL7_HUMAN tubulin tyrosine ligase-like family, member 7 299 TTL. cell differentiation|nervous system development|protein modification process cilium|dendrite|microtubule basal body|perikaryon tubulin-tyrosine ligase activity ovary(1) 1 all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16) GTCTTTACCACCAATTCCTAT 0.443 NA 10 34 3.07112e-06 3.46216e-06 0.010729 1 0 COL24A1 255631 broad.mit.edu 37 1 86578265 86578265 + Silent SNP T T C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:86578265T>C uc001dlj.2 - 5 1626 c.1584A>G c.(1582-1584)GGA>GGG p.G528G COL24A1_uc010osd.1_5'UTR|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA|COL24A1_uc009wcq.2_Silent_p.G528G NM_152890 NP_690850 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 precursor 528 Collagen-like 1. cell adhesion collagen extracellular matrix structural constituent ovary(3)|central_nervous_system(1)|skin(1) 5 all cancers(265;0.0627)|Epithelial(280;0.0689) GACCAGGTAATCCAGGTAAAC 0.388 NA 13 39 0 0 0.013537 0 0 PKN2 5586 broad.mit.edu 37 1 89294166 89294166 + Missense_Mutation SNP A A G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:89294166A>G uc001dmn.2 + 19 2764 c.2422A>G c.(2422-2424)ATG>GTG p.M808V PKN2_uc010osp.1_Missense_Mutation_p.M792V|PKN2_uc010osq.1_Missense_Mutation_p.M651V|PKN2_uc009wcv.2_Missense_Mutation_p.M760V|PKN2_uc010osr.1_Missense_Mutation_p.M473V NM_006256 NP_006247 Q16513 PKN2_HUMAN protein kinase N2 808 Protein kinase. signal transduction cytoplasm ATP binding|histone deacetylase binding|protein kinase C activity large_intestine(1)|lung(1)|skin(1) 3 Lung NSC(277;0.123) all cancers(265;0.0136)|Epithelial(280;0.0301) TTTTCCAGGAATGGGATATGG 0.343 NA 5 23 0 0 0.001168 0 0 ABCA4 24 broad.mit.edu 37 1 94544950 94544950 + Silent SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:94544950C>A uc001dqh.2 - 9 1271 c.1167G>T c.(1165-1167)GCG>GCT p.A389A ABCA4_uc010otn.1_Silent_p.A389A NM_000350 NP_000341 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A member 4 389 Extracellular. 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) AAGGCTTTGCCGCCCTCCAAG 0.473 NA 21 43 4.96729e-08 5.87338e-08 0.008871 1 0 ABCA4 24 broad.mit.edu 37 1 94564460 94564460 + Missense_Mutation SNP G G A rs61748538 TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:94564460G>A uc001dqh.2 - 6 762 c.658C>T c.(658-660)CGC>TGC p.R220C ABCA4_uc010otn.1_Missense_Mutation_p.R220C NM_000350 NP_000341 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A member 4 220 Extracellular. R -> C (in STGD1). 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) TTTGCCCCGCGTCTCTGGCTG 0.602 NA 14 64 0 0 0.004007 0 0 COL11A1 1301 broad.mit.edu 37 1 103487276 103487276 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:103487276G>C uc001dul.2 - 9 1613 c.1295C>G c.(1294-1296)GCA>GGA p.A432G COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Missense_Mutation_p.A444G|COL11A1_uc001dun.2_Missense_Mutation_p.A393G|COL11A1_uc009weh.2_Missense_Mutation_p.A316G NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 432 Triple-helical region (interrupted). collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) CTCAACCACTGCTGGTTCTCC 0.353 NA 11 27 0 0 0.010729 0 0 AMY2B 280 broad.mit.edu 37 1 104114738 104114738 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:104114738C>T uc001duq.2 + 4 791 c.175C>T c.(175-177)CCA>TCA p.P59S AMY2B_uc010ouo.1_RNA|LOC648740_uc001dur.2_Missense_Mutation_p.P59S NM_020978 NP_066188 P19961 AMY2B_HUMAN amylase, pancreatic, alpha-2B precursor 59 carbohydrate metabolic process|digestion extracellular region alpha-amylase activity|metal ion binding 0 all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451) Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112) GTAGGTCTCTCCACCAAATGA 0.318 NA 10 39 0 0 0.008291 0 0 AMY2B 280 broad.mit.edu 37 1 104120405 104120405 + Silent SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:104120405G>T uc001duq.2 + 11 1900 c.1284G>T c.(1282-1284)GGG>GGT p.G428G AMY2B_uc010ouo.1_RNA|LOC648740_uc001dur.2_Silent_p.G428G|AMY2B_uc001dus.1_RNA NM_020978 NP_066188 P19961 AMY2B_HUMAN amylase, pancreatic, alpha-2B precursor 428 carbohydrate metabolic process|digestion extracellular region alpha-amylase activity|metal ion binding 0 all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451) Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112) ATGATAATGGGAGCAACCAAG 0.348 NA 18 69 1.00905e-13 1.30003e-13 0.008871 1 0 VAV3 10451 broad.mit.edu 37 1 108307757 108307757 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:108307757C>T uc001dvk.1 - 9 916 c.862G>A c.(862-864)GCC>ACC p.A288T VAV3_uc010ouw.1_Missense_Mutation_p.A288T|VAV3_uc001dvl.1_Missense_Mutation_p.A112T|VAV3_uc010oux.1_Missense_Mutation_p.A288T NM_006113 NP_006104 Q9UKW4 VAV3_HUMAN vav 3 guanine nucleotide exchange factor isoform 288 DH. 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) CTAGAGATGGCTGACTCCACT 0.358 NA 6 18 0 0 0.001984 0 0 ATXN7L2 127002 broad.mit.edu 37 1 110030427 110030427 + Splice_Site SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:110030427G>A uc001dxr.2 + 5 715 c.700_splice c.e5+1 p.R234_splice ATXN7L2_uc001dxs.2_5'Flank NM_153340 NP_699171 Q5T6C5 AT7L2_HUMAN ataxin 7-like 2 ovary(2) 2 all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453) Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228) AAGATGGCTCGTGAGTAGTTG 0.592 NA 5 52 0 0 0.000602 0 0 AHCYL1 10768 broad.mit.edu 37 1 110551679 110551679 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:110551679G>A uc001dyx.2 + 2 511 c.144G>A c.(142-144)ATG>ATA p.M48I AHCYL1_uc010ovw.1_Missense_Mutation_p.M1I|AHCYL1_uc001dyy.2_Missense_Mutation_p.M1I|AHCYL1_uc010ovx.1_Missense_Mutation_p.M1I NM_006621 NP_006612 O43865 SAHH2_HUMAN S-adenosylhomocysteine hydrolase-like 1 48 one-carbon metabolic process endoplasmic reticulum adenosylhomocysteinase activity ovary(1) 1 all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143) CTGATGACATGCAGGAGTTCA 0.393 NA 9 30 0 0 0.004482 0 0 KCNA2 3737 broad.mit.edu 37 1 111147283 111147283 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:111147283C>G uc001dzu.2 - 2 618 c.122G>C c.(121-123)GGG>GCG p.G41A KCNA2_uc009wfv.1_Missense_Mutation_p.G41A|KCNA2_uc009wfw.2_Missense_Mutation_p.G41A NM_004974 NP_004965 P16389 KCNA2_HUMAN potassium voltage-gated channel, shaker-related 41 juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity ovary(1) 1 all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191) AAACCGCAGCCCTGAGATGTT 0.572 Pancreas(18;568 735 10587 23710 36357) NA 52 176 0 0 0.01441 0 0 ADORA3 140 broad.mit.edu 37 1 112031646 112031646 + Missense_Mutation SNP T T G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:112031646T>G uc001ebf.2 - 3 1225 c.458A>C c.(457-459)GAT>GCT p.D153A ADORA3_uc001ebg.3_Missense_Mutation_p.D72A NM_020683 NP_065734 P33765 AA3R_HUMAN adenosine A3 receptor isoform 1 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction integral to plasma membrane adenosine receptor activity, G-protein coupled ovary(2)|large_intestine(1)|skin(1) 4 all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156) all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134) Adenosine(DB00640)|Aminophylline(DB01223) GACCATGGCATCTGTGAAAac 0.363 NA 8 26 0 0 0.00308 0 0 PTGFRN 5738 broad.mit.edu 37 1 117491979 117491979 + Missense_Mutation SNP G G T rs149030409 TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:117491979G>T uc001egv.1 + 4 1135 c.998G>T c.(997-999)CGG>CTG p.R333L NM_020440 NP_065173 Q9P2B2 FPRP_HUMAN prostaglandin F2 receptor negative regulator 333 Ig-like C2-type 3.|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) GTGTTGGCGCGGCTTGACCGT 0.577 NA 20 59 5.03518e-11 6.27023e-11 0.007413 1 0 CD101 9398 broad.mit.edu 37 1 117552698 117552698 + Silent SNP A A T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:117552698A>T uc010oxb.1 + 2 328 c.270A>T c.(268-270)CGA>CGT p.R90R CD101_uc009whd.2_Silent_p.R90R|CD101_uc010oxc.1_Silent_p.R90R|CD101_uc010oxd.1_Silent_p.R90R NM_004258 NP_004249 Q93033 IGSF2_HUMAN immunoglobulin superfamily, member 2 precursor 90 Extracellular (Potential).|Ig-like C2-type 1. cell surface receptor linked signaling pathway integral to membrane|plasma membrane hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides skin(2)|upper_aerodigestive_tract(1)|ovary(1) 4 AGCGGGTGCGAAGCGGAGACG 0.532 NA 6 43 0 0 0.001984 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144923746 144923746 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:144923746C>T uc001elw.3 - 6 1003 c.712G>A c.(712-714)GAT>AAT p.D238N NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.D304N|PDE4DIP_uc001emc.1_Missense_Mutation_p.D238N|PDE4DIP_uc001emd.1_Missense_Mutation_p.D238N|PDE4DIP_uc001emb.1_Missense_Mutation_p.D401N|PDE4DIP_uc001eme.1_5'Flank|PDE4DIP_uc001emf.1_Missense_Mutation_p.D25N NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 238 Potential. cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) AAGTGGGAATCAGATACAGAC 0.438 NA T PDGFRB MPD 10 151 0 0 0.006214 0 0 GJA5 2702 broad.mit.edu 37 1 147230857 147230857 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:147230857C>G uc001eps.1 - 2 631 c.490G>C c.(490-492)GAG>CAG p.E164Q GJA5_uc001ept.1_Missense_Mutation_p.E164Q NM_181703 NP_859054 P36382 CXA5_HUMAN connexin 40 164 Cytoplasmic (Potential). angiogenesis|cell-cell junction assembly|muscle contraction integral to membrane ovary(1) 1 all_hematologic(923;0.0276) LUSC - Lung squamous cell carcinoma(543;0.202) AAGCCCACCTCCATGGTGGTG 0.577 NA 19 144 0 0 0.006122 0 0 FCGR1A 2209 broad.mit.edu 37 1 149762804 149762804 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:149762804C>G uc001esp.3 + 6 906 c.856C>G c.(856-858)CCA>GCA p.P286A HIST2H2BF_uc010pbj.1_Intron|FCGR1A_uc009wlg.2_RNA NM_000566 NP_000557 P12314 FCGR1_HUMAN Fc fragment of IgG, high affinity Ia, receptor 286 Extracellular (Potential). interferon-gamma-mediated signaling pathway|phagocytosis, engulfment integral to membrane|plasma membrane IgG binding|receptor activity|receptor signaling protein activity ovary(1) 1 Breast(34;0.0124)|all_hematologic(923;0.127) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) CCTCCAGTTACCAACTCCTGT 0.423 NA 9 95 0 0 0.006214 0 0 HIST2H2AC 8338 broad.mit.edu 37 1 149858701 149858701 + Silent SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:149858701G>C uc001etd.2 + 1 177 c.177G>C c.(175-177)CTG>CTC p.L59L HIST2H2BE_uc001etc.2_5'Flank NM_003517 NP_003508 Q16777 H2A2C_HUMAN histone cluster 2, H2ac 59 nucleosome assembly nucleosome|nucleus DNA binding ovary(1)|skin(1) 2 Breast(34;0.0124)|all_hematologic(923;0.127) STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221) TCGAGTACCTGACCGCCGAGA 0.687 NA 9 142 0 0 0.008291 0 0 SV2A 9900 broad.mit.edu 37 1 149882451 149882451 + Silent SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:149882451G>A uc001etg.2 - 4 1373 c.882C>T c.(880-882)AGC>AGT p.S294S SV2A_uc001eth.2_Silent_p.S294S NM_014849 NP_055664 Q7L0J3 SV2A_HUMAN synaptic vesicle glycoprotein 2 294 Cytoplasmic (Potential). neurotransmitter transport cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane transmembrane transporter activity ovary(6)|pancreas(1) 7 Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) Levetiracetam(DB01202) TGCAGAGCCAGCTCAAATGCT 0.542 NA 11 62 0 0 0.008291 0 0 RPRD2 23248 broad.mit.edu 37 1 150437062 150437062 + Missense_Mutation SNP A A G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:150437062A>G uc009wlr.2 + 10 1672 c.1471A>G c.(1471-1473)AGT>GGT p.S491G RPRD2_uc010pcc.1_Missense_Mutation_p.S465G|RPRD2_uc001eup.3_Missense_Mutation_p.S465G NM_015203 NP_056018 Q5VT52 RPRD2_HUMAN Regulation of nuclear pre-mRNA domain containing 491 Ser-rich. protein binding ovary(1) 1 CAACCTCACCAGTGGCCTGAA 0.527 NA OREG0013786 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 6 0 0 0.00308 0 0 TARS2 80222 broad.mit.edu 37 1 150463952 150463952 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:150463952G>A uc001euq.2 + 5 602 c.595G>A c.(595-597)GAG>AAG p.E199K TARS2_uc010pcd.1_RNA|TARS2_uc001eur.2_Missense_Mutation_p.E199K|TARS2_uc009wlt.2_Intron|TARS2_uc009wls.2_Missense_Mutation_p.E199K NM_025150 NP_079426 Q9BW92 SYTM_HUMAN threonyl-tRNA synthetase 2, mitochondrial 199 threonyl-tRNA aminoacylation mitochondrial matrix ATP binding|threonine-tRNA ligase activity ovary(1) 1 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) L-Threonine(DB00156) CCGGAGGCTAGAGGCTTCACG 0.532 NA 18 136 0 0 0.010504 0 0 CTSK 1513 broad.mit.edu 37 1 150772099 150772099 + Silent SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:150772099C>T uc001evp.1 - 6 829 c.705G>A c.(703-705)CTG>CTA p.L235L CTSK_uc001evq.1_Silent_p.L146L NM_000396 NP_000387 P43235 CATK_HUMAN cathepsin K preproprotein 235 proteolysis lysosome cysteine-type endopeptidase activity|protein binding skin(1) 1 all_cancers(9;2.32e-51)|all_epithelial(9;3.89e-42)|all_lung(15;4.59e-35)|Lung NSC(24;1.7e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Colorectal(459;0.171)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211) CTGCCCTCTTCAGGGCTTTCT 0.517 NA 5 146 0 0 0.000602 0 0 SETDB1 9869 broad.mit.edu 37 1 150935522 150935522 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:150935522C>G uc001evu.2 + 19 3554 c.3364C>G c.(3364-3366)CAG>GAG p.Q1122E SETDB1_uc001evv.2_Missense_Mutation_p.Q1122E|SETDB1_uc009wmg.1_Missense_Mutation_p.Q1122E NM_001145415 NP_001138887 Q15047 SETB1_HUMAN SET domain, bifurcated 1 isoform 1 1122 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|Golgi apparatus|nucleus|plasma membrane DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding ovary(2)|upper_aerodigestive_tract(1) 3 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211) CACTGCTGGTCAGACTTCGGC 0.532 NA 25 34 0 0 0.00333 0 0 SNX27 81609 broad.mit.edu 37 1 151641082 151641082 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:151641082G>A uc001eyn.1 + 7 1136 c.1120G>A c.(1120-1122)GAC>AAC p.D374N SNX27_uc001eyo.2_Missense_Mutation_p.D281N|SNX27_uc001eyp.2_Missense_Mutation_p.D188N NM_030918 NP_112180 Q96L92 SNX27_HUMAN sorting nexin family member 27 374 cell communication|protein transport|signal transduction cytosol|early endosome phosphatidylinositol binding|protein binding ovary(2)|central_nervous_system(1) 3 Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) AAATGACAATGACCTTGCTGT 0.343 Colon(46;291 966 40145 41237 41888) NA 8 53 0 0 0.004482 0 0 TCHHL1 126637 broad.mit.edu 37 1 152057927 152057927 + Nonsense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:152057927G>T uc001ezo.1 - 3 2296 c.2231C>A c.(2230-2232)TCA>TAA p.S744* NM_001008536 NP_001008536 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 744 calcium ion binding ovary(1)|skin(1) 2 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) TTCCTCCTCTGATGTTACAGG 0.468 NA 23 169 6.32553e-13 8.0638e-13 0.004656 1 0 TCHHL1 126637 broad.mit.edu 37 1 152059275 152059275 + Missense_Mutation SNP T T C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:152059275T>C uc001ezo.1 - 3 948 c.883A>G c.(883-885)AGA>GGA p.R295G NM_001008536 NP_001008536 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 295 calcium ion binding ovary(1)|skin(1) 2 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) TCATCTTCTCTTTGTAGGGGT 0.443 NA 166 166 0 0 0.01441 0 0 TCHH 7062 broad.mit.edu 37 1 152083697 152083697 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:152083697C>G uc001ezp.2 - 2 1996 c.1996G>C c.(1996-1998)GAG>CAG p.E666Q TCHH_uc009wne.1_Missense_Mutation_p.E666Q NM_007113 NP_009044 Q07283 TRHY_HUMAN trichohyalin 666 9 X 28 AA approximate tandem repeats. keratinization cytoskeleton calcium ion binding ovary(3)|kidney(1)|central_nervous_system(1) 5 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCGAGCCTCTCTTCCTCCTCC 0.652 NA 59 98 0 0 0.01441 0 0 HRNR 388697 broad.mit.edu 37 1 152187607 152187607 + Silent SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:152187607G>C uc001ezt.1 - 3 6574 c.6498C>G c.(6496-6498)TCC>TCG p.S2166S NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 2166 24. keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AAGACTGACGGGAGCCAGACC 0.632 NA 22 805 0 0 0.004656 0 0 FLG 2312 broad.mit.edu 37 1 152281538 152281538 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:152281538G>T uc001ezu.1 - 3 5860 c.5824C>A c.(5824-5826)CAT>AAT p.H1942N NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1942 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) GATCCAAGATGGTTTCTGGAA 0.572 NA Ichthyosis 260 359 6.0155e-110 8.50487e-110 0.01441 1 0 FLG 2312 broad.mit.edu 37 1 152285143 152285143 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:152285143C>A uc001ezu.1 - 3 2255 c.2219G>T c.(2218-2220)CGA>CTA p.R740L uc001ezv.2_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 740 Filaggrin 4.|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) ACTGGACCCTCGGTGTCCACT 0.577 NA Ichthyosis 92 673 3.28864e-39 4.61809e-39 0.01441 1 0 KPRP 448834 broad.mit.edu 37 1 152733553 152733553 + Missense_Mutation SNP A A T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:152733553A>T uc001fal.1 + 2 1547 c.1489A>T c.(1489-1491)AGC>TGC p.S497C NM_001025231 NP_001020402 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 497 Pro-rich. cytoplasm ovary(4)|pancreas(1) 5 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) GACTTGGCGCAGCCCCAGCCC 0.647 NA 80 60 0 0 0.01441 0 0 NUP210L 91181 broad.mit.edu 37 1 154067433 154067433 + Missense_Mutation SNP T T G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:154067433T>G uc001fdw.2 - 15 2237 c.2165A>C c.(2164-2166)CAA>CCA p.Q722P NUP210L_uc009woq.2_5'UTR|NUP210L_uc010peh.1_Missense_Mutation_p.Q722P NM_207308 NP_997191 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like isoform 1 722 integral to membrane skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1) 11 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) ATCCAGGCATTGGATCCGGTA 0.383 NA 5 30 0 0 0.000602 0 0 PYGO2 90780 broad.mit.edu 37 1 154931475 154931475 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:154931475C>T uc001fft.2 - 3 1207 c.1001G>A c.(1000-1002)CGG>CAG p.R334Q PBXIP1_uc001ffr.2_5'Flank|PBXIP1_uc001ffs.2_5'Flank|PBXIP1_uc010pep.1_5'Flank NM_138300 NP_612157 Q9BRQ0 PYGO2_HUMAN pygopus homolog 2 334 PHD-type. Wnt receptor signaling pathway nucleus protein binding|zinc ion binding skin(1) 1 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) CACCTCACTCCGACAGGCACC 0.632 NSCLC(87;357 1460 1955 21029 23522) NA 10 70 0 0 0.010729 0 0 SYT11 23208 broad.mit.edu 37 1 155838184 155838184 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:155838184G>C uc001fmg.2 + 2 726 c.463G>C c.(463-465)GAT>CAT p.D155H SYT11_uc010pgq.1_Intron NM_152280 NP_689493 Q9BT88 SYT11_HUMAN synaptotagmin XI 155 Cytoplasmic (Potential). cell junction|synaptic vesicle membrane protein binding|transporter activity ovary(1)|skin(1) 2 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;0.000162) TCCAGAGGAGGATGTCATGCT 0.517 NA 27 165 0 0 0.003954 0 0 C1orf61 10485 broad.mit.edu 37 1 156384530 156384530 + Silent SNP C C G rs144548564 TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:156384530C>G uc001fou.1 - 4 204 c.87G>C c.(85-87)GCG>GCC p.A29A C1orf61_uc001fov.1_RNA|C1orf61_uc001fow.1_Intron|C1orf61_uc001fox.1_RNA|C1orf61_uc001foy.1_RNA NM_006365 NP_006356 Q13536 CROC4_HUMAN transcriptional activator of the c-fos promoter 29 nucleus skin(1) 1 Hepatocellular(266;0.158) AGAACCCACCCGCCCCAGGTG 0.532 NA 5 17 0 0 0.000602 0 0 MEF2D 4209 broad.mit.edu 37 1 156437954 156437954 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:156437954G>A uc001fpc.2 - 11 1775 c.1385C>T c.(1384-1386)GCC>GTC p.A462V MEF2D_uc001fpb.2_Missense_Mutation_p.A455V|MEF2D_uc001fpd.2_Missense_Mutation_p.A455V|MEF2D_uc001fpe.1_Missense_Mutation_p.A462V|MEF2D_uc009wsa.2_RNA NM_005920 NP_005911 Q14814 MEF2D_HUMAN myocyte enhancer factor 2D 462 apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter nucleus activating transcription factor binding|histone deacetylase binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity ovary(1) 1 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CTCAGGGCGGGCAGCTGGGAA 0.682 NA 15 105 0 0 0.00245 0 0 TTC24 164118 broad.mit.edu 37 1 156554719 156554719 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:156554719G>T uc009wsc.1 + 5 602 c.462G>T c.(460-462)GAG>GAT p.E154D NM_001105669 NP_001099139 A2A3L6 TTC24_HUMAN tetratricopeptide repeat domain 24 434 binding pancreas(1) 1 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GCCAGGCGGAGGGGACCCCAG 0.612 NA 9 4 1.76689e-08 2.10981e-08 0.006214 1 0 BCAN 63827 broad.mit.edu 37 1 156618623 156618623 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:156618623C>T uc001fpp.2 + 6 1369 c.1033C>T c.(1033-1035)CAC>TAC p.H345Y BCAN_uc001fpo.2_Missense_Mutation_p.H345Y NM_021948 NP_068767 Q96GW7 PGCB_HUMAN brevican isoform 1 345 Link 2. cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding ovary(1)|pancreas(1) 2 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CCCCAATAAGCACAGCCGCTT 0.577 NA 111 104 0 0 0.01441 0 0 SH2D2A 9047 broad.mit.edu 37 1 156776986 156776986 + Missense_Mutation SNP A A C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:156776986A>C uc001fqd.2 - 8 1294 c.1154T>G c.(1153-1155)CTT>CGT p.L385R SH2D2A_uc001fqc.1_Missense_Mutation_p.L357R|SH2D2A_uc009wsh.2_Missense_Mutation_p.L395R|SH2D2A_uc001fqe.2_Missense_Mutation_p.L367R|SH2D2A_uc010phs.1_Missense_Mutation_p.L385R NM_003975 NP_003966 Q9NP31 SH22A_HUMAN SH2 domain protein 2A isoform 2 385 Pro-rich. angiogenesis|cell differentiation|signal transduction cytoplasm|soluble fraction SH3 domain binding|SH3/SH2 adaptor activity 0 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) AGGAGGCCCAAGGGGAAGCCA 0.582 NA 56 86 0 0 0.01441 0 0 SH2D2A 9047 broad.mit.edu 37 1 156776988 156776988 + Silent SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:156776988G>A uc001fqd.2 - 8 1292 c.1152C>T c.(1150-1152)CCC>CCT p.P384P SH2D2A_uc001fqc.1_Silent_p.P356P|SH2D2A_uc009wsh.2_Silent_p.P394P|SH2D2A_uc001fqe.2_Silent_p.P366P|SH2D2A_uc010phs.1_Silent_p.P384P NM_003975 NP_003966 Q9NP31 SH22A_HUMAN SH2 domain protein 2A isoform 2 384 Pro-rich. angiogenesis|cell differentiation|signal transduction cytoplasm|soluble fraction SH3 domain binding|SH3/SH2 adaptor activity 0 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GAGGCCCAAGGGGAAGCCATG 0.592 NA 55 87 0 0 0.01441 0 0 SH2D2A 9047 broad.mit.edu 37 1 156779566 156779566 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:156779566C>T uc001fqd.2 - 6 741 c.601G>A c.(601-603)GAA>AAA p.E201K SH2D2A_uc001fqc.1_Missense_Mutation_p.E173K|SH2D2A_uc009wsh.2_Missense_Mutation_p.E211K|SH2D2A_uc001fqe.2_Missense_Mutation_p.E183K|SH2D2A_uc010phs.1_Missense_Mutation_p.E201K NM_003975 NP_003966 Q9NP31 SH22A_HUMAN SH2 domain protein 2A isoform 2 201 Pro-rich. angiogenesis|cell differentiation|signal transduction cytoplasm|soluble fraction SH3 domain binding|SH3/SH2 adaptor activity 0 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) TTTGATTCTTCGGTCCTCAGG 0.582 NA 41 236 0 0 0.009718 0 0 FCRL5 83416 broad.mit.edu 37 1 157491004 157491004 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:157491004C>T uc001fqu.2 - 11 2476 c.2318G>A c.(2317-2319)TGT>TAT p.C773Y FCRL5_uc009wsm.2_Missense_Mutation_p.C773Y NM_031281 NP_112571 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 773 Extracellular (Potential).|Ig-like C2-type 8. integral to membrane|plasma membrane receptor activity ovary(3)|breast(2)|central_nervous_system(1) 6 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) CAGGGCCTCACAGTGAAGCTC 0.582 NA 12 86 0 0 0.010729 0 0 FCRL4 83417 broad.mit.edu 37 1 157551323 157551323 + Nonsense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:157551323G>T uc001fqw.2 - 7 1383 c.1247C>A c.(1246-1248)TCA>TAA p.S416* FCRL4_uc010phy.1_RNA NM_031282 NP_112572 Q96PJ5 FCRL4_HUMAN Fc receptor-like 4 precursor 416 Cytoplasmic (Potential). integral to membrane|plasma membrane receptor activity ovary(2)|kidney(1)|skin(1) 4 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.245) GCACAAACCTGACTTCCTCCG 0.592 NA 36 31 1.836e-18 2.45703e-18 0.003755 1 0 OR10K1 391109 broad.mit.edu 37 1 158435500 158435500 + Missense_Mutation SNP T T C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:158435500T>C uc010pij.1 + 1 149 c.149T>C c.(148-150)GTG>GCG p.V50A NM_001004473 NP_001004473 Q8NGX5 O10K1_HUMAN olfactory receptor, family 10, subfamily K, 50 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) TCCACCATTGTGCTGGACAGA 0.483 NA 4 142 0 0 0.001168 0 0 OR6K3 391114 broad.mit.edu 37 1 158687653 158687653 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:158687653G>T uc010pip.1 - 1 301 c.301C>A c.(301-303)CTC>ATC p.L101I NM_001005327 NP_001005327 Q8NGY3 OR6K3_HUMAN olfactory receptor, family 6, subfamily K, 101 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|kidney(1)|central_nervous_system(1) 3 all_hematologic(112;0.0378) TCACTGATGAGGTTGGAGAGC 0.453 NA 16 150 1.3612e-06 1.55873e-06 0.003163 1 0 IFI16 3428 broad.mit.edu 37 1 158988421 158988421 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:158988421G>T uc001ftf.1 + 6 1559 c.952G>T c.(952-954)GGG>TGG p.G318W IFI16_uc001ftg.2_Missense_Mutation_p.G318W|IFI16_uc010pis.1_Missense_Mutation_p.G262W NM_005531 NP_005522 Q16666 IF16_HUMAN interferon, gamma-inducible protein 16 318 HIN-200 1. cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent cytoplasm|nuclear speck|nucleolus double-stranded DNA binding|protein binding ovary(1) 1 all_hematologic(112;0.0429) TATTGTATATGGGGTATTTAT 0.338 NA 8 68 5.4927e-09 6.63511e-09 0.004482 1 0 ATP1A2 477 broad.mit.edu 37 1 160098582 160098582 + Silent SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:160098582C>A uc001fvc.2 + 9 1290 c.1158C>A c.(1156-1158)GTC>GTA p.V386V ATP1A2_uc001fvb.2_Silent_p.V386V|ATP1A2_uc010piz.1_Silent_p.V231V|ATP1A2_uc001fvd.2_Silent_p.V122V|ATP1A2_uc009wtg.1_Silent_p.V74V NM_000702 NP_000693 P50993 AT1A2_HUMAN Na+/K+ -ATPase alpha 2 subunit proprotein 386 Cytoplasmic (Potential). ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity central_nervous_system(3)|ovary(2)|skin(2) 7 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) GCATGACCGTCGCCCACATGT 0.597 NA 13 88 0.000219431 0.000235836 0.00245 1 0 CASQ1 844 broad.mit.edu 37 1 160164856 160164856 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:160164856G>C uc010pja.1 + 4 777 c.520G>C c.(520-522)GAG>CAG p.E174Q NM_001231 NP_001222 P31415 CASQ1_HUMAN calsequestrin 1 174 mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum calcium ion binding central_nervous_system(1) 1 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GCAGGCGTTTGAGAATATTGA 0.493 NA 37 18 0 0 0.004878 0 0 DCAF8 50717 broad.mit.edu 37 1 160209914 160209914 + Nonsense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:160209914G>C uc001fvo.2 - 4 608 c.296C>G c.(295-297)TCA>TGA p.S99* DCAF8_uc001fvn.2_Nonsense_Mutation_p.S99*|DCAF8_uc009wth.2_Nonsense_Mutation_p.S99*|DCAF8_uc010pjb.1_Nonsense_Mutation_p.S99*|DCAF8_uc010pjc.1_Nonsense_Mutation_p.S253*|DCAF8_uc001fvq.3_Nonsense_Mutation_p.S99*|DCAF8_uc001fvp.3_Nonsense_Mutation_p.S99*|uc010pjd.1_3'UTR NM_015726 NP_056541 Q5TAQ9 DCAF8_HUMAN DDB1 and CUL4 associated factor 8 99 CUL4 RING ubiquitin ligase complex protein binding skin(2) 2 ctcttcctctGAGCGGTCATG 0.428 NA 23 27 0 0 0.012319 0 0 HSPA6 3310 broad.mit.edu 37 1 161495729 161495729 + Silent SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:161495729C>A uc001gap.2 + 2 1941 c.1281C>A c.(1279-1281)ACC>ACA p.T427T HSPA6_uc001gaq.2_Silent_p.T427T NM_002155 NP_002146 P17066 HSP76_HUMAN heat shock 70kDa protein 6 (HSP70B') 427 response to unfolded protein ATP binding skin(1) 1 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) CCAAGCAGACCCAGACTTTCA 0.597 NA 52 33 2.17126e-26 2.99398e-26 0.01441 1 0 HSPA6 3310 broad.mit.edu 37 1 161496369 161496369 + Missense_Mutation SNP G G A rs144080022 TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:161496369G>A uc001gap.2 + 2 2581 c.1921G>A c.(1921-1923)GAG>AAG p.E641K HSPA6_uc001gaq.2_Missense_Mutation_p.E641K NM_002155 NP_002146 P17066 HSP76_HUMAN heat shock 70kDa protein 6 (HSP70B') 641 response to unfolded protein ATP binding skin(1) 1 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) CATCATTGAGGAGGTTGATTG 0.582 NA 5 50 0 0 0.001168 0 0 ADCY10 55811 broad.mit.edu 37 1 167830153 167830153 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:167830153C>G uc001ger.2 - 15 2063 c.1765G>C c.(1765-1767)GAT>CAT p.D589H ADCY10_uc009wvk.2_Missense_Mutation_p.D497H|ADCY10_uc010plj.1_Missense_Mutation_p.D436H|ADCY10_uc009wvl.2_Missense_Mutation_p.D588H NM_018417 NP_060887 Q96PN6 ADCYA_HUMAN adenylate cyclase 10 589 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding central_nervous_system(2)|ovary(1) 3 AACTTTTCATCCAACAGTGTC 0.403 NA 12 70 0 0 0.001855 0 0 F5 2153 broad.mit.edu 37 1 169528470 169528470 + Silent SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:169528470C>T uc001ggg.1 - 5 796 c.651G>A c.(649-651)GTG>GTA p.V217V F5_uc010plr.1_RNA NM_000130 NP_000121 P12259 FA5_HUMAN coagulation factor V precursor 217 F5/8 type A 1.|Plastocyanin-like 2. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) TTTCATCAAACACAGCAAATA 0.463 NA 28 26 0 0 0.00632 0 0 FMO1 2326 broad.mit.edu 37 1 171250036 171250036 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:171250036C>A uc009wvz.2 + 6 875 c.739C>A c.(739-741)CTC>ATC p.L247I FMO1_uc010pme.1_Missense_Mutation_p.L184I|FMO1_uc001ghl.2_Missense_Mutation_p.L247I|FMO1_uc001ghm.2_Missense_Mutation_p.L247I|FMO1_uc001ghn.2_Missense_Mutation_p.L247I NM_002021 NP_002012 Q01740 FMO1_HUMAN flavin containing monooxygenase 1 247 NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding skin(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) GAGAAATTCCCTCCCAACCCC 0.468 NA 13 52 9.05144e-12 1.14086e-11 0.001855 1 0 METTL13 51603 broad.mit.edu 37 1 171756899 171756899 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:171756899G>A uc001ghz.2 + 4 1485 c.1138G>A c.(1138-1140)GAC>AAC p.D380N METTL13_uc001gia.2_Missense_Mutation_p.D294N|METTL13_uc001gib.2_Missense_Mutation_p.D224N|METTL13_uc010pml.1_Missense_Mutation_p.D379N NM_015935 NP_057019 Q8N6R0 MTL13_HUMAN CGI-01 protein isoform 1 380 methyltransferase activity|protein binding kidney(1) 1 TGTGGGTGGGGACATTGGGGT 0.502 NA 5 43 0 0 0.001984 0 0 SLC9A11 284525 broad.mit.edu 37 1 173567171 173567171 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:173567171C>A uc001giz.2 - 4 652 c.229G>T c.(229-231)GTG>TTG p.V77L SLC9A11_uc010pmq.1_RNA NM_178527 NP_848622 Q5TAH2 S9A11_HUMAN solute carrier family 9, member 11 77 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity ovary(2) 2 ATTTGGTGCACCTAAAGTAAC 0.299 NA 4 18 0.00024832 0.000265313 0.009096 1 0 KLHL20 27252 broad.mit.edu 37 1 173703396 173703396 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:173703396G>C uc001gjc.2 + 3 747 c.568G>C c.(568-570)GAC>CAC p.D190H KLHL20_uc010pmr.1_Intron|KLHL20_uc009wwf.2_Missense_Mutation_p.D172H|KLHL20_uc001gjd.2_Missense_Mutation_p.D190H NM_014458 NP_055273 Q9Y2M5 KLH20_HUMAN kelch-like 20 190 BACK. cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body actin binding|interferon-gamma binding|ubiquitin-protein ligase activity ovary(1) 1 AAGGATAGCAGACAAGTTCAC 0.428 GBM(159;862 2695 6559 23041) NA 16 21 0 0 0.003163 0 0 RFWD2 64326 broad.mit.edu 37 1 175957454 175957454 + Silent SNP G G A rs142920790 byFrequency TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:175957454G>A uc001gku.1 - 17 2198 c.1942C>T c.(1942-1944)CTG>TTG p.L648L RFWD2_uc001gkv.1_Silent_p.L624L|RFWD2_uc001gkw.1_Silent_p.L408L|RFWD2_uc009wwv.2_Silent_p.L447L|RFWD2_uc001gkt.1_Silent_p.L487L NM_022457 NP_071902 Q8NHY2 RFWD2_HUMAN ring finger and WD repeat domain 2 isoform a 648 WD 6. DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest centrosome|cytosol|focal adhesion|nuclear speck protein binding|ubiquitin-protein ligase activity|zinc ion binding 0 TTGGAAGCCAGGCCTACAAAG 0.398 Ovarian(134;1413 1765 5706 35534 51541) NA 15 20 0 0 0.003163 0 0 ASTN1 460 broad.mit.edu 37 1 176838157 176838157 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:176838157G>T uc001glc.2 - 22 3682 c.3470C>A c.(3469-3471)GCA>GAA p.A1157E ASTN1_uc001glb.1_Missense_Mutation_p.A1157E|ASTN1_uc001gld.1_Missense_Mutation_p.A1157E NM_004319 NP_004310 O14525 ASTN1_HUMAN astrotactin isoform 1 1165 cell migration|neuron cell-cell adhesion integral to membrane ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1) 15 GATCTTGTCTGCTATTTCTGA 0.333 NA 21 11 7.45023e-12 9.41491e-12 0.010504 1 0 ASTN1 460 broad.mit.edu 37 1 176915180 176915180 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:176915180C>T uc001glc.2 - 13 2343 c.2131G>A c.(2131-2133)GAC>AAC p.D711N ASTN1_uc001glb.1_Missense_Mutation_p.D711N|ASTN1_uc001gld.1_Missense_Mutation_p.D711N|ASTN1_uc009wwx.1_Missense_Mutation_p.D711N NM_004319 NP_004310 O14525 ASTN1_HUMAN astrotactin isoform 1 719 cell migration|neuron cell-cell adhesion integral to membrane ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1) 15 TCCCCACAGTCACTTCCCTCT 0.532 NA 11 61 0 0 0.008291 0 0 ABL2 27 broad.mit.edu 37 1 179077723 179077723 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:179077723C>G uc001gmj.3 - 12 2966 c.2679G>C c.(2677-2679)AAG>AAC p.K893N ABL2_uc010pnf.1_Missense_Mutation_p.K790N|ABL2_uc010png.1_Missense_Mutation_p.K769N|ABL2_uc010pnh.1_Missense_Mutation_p.K872N|ABL2_uc001gmg.3_Missense_Mutation_p.K775N|ABL2_uc001gmi.3_Missense_Mutation_p.K878N|ABL2_uc001gmh.3_Missense_Mutation_p.K857N|ABL2_uc010pne.1_Missense_Mutation_p.K754N NM_007314 NP_009298 P42684 ABL2_HUMAN arg tyrosine kinase isoform b 893 F-actin-binding (By similarity).|Pro-rich. 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 lung(8)|breast(3)|ovary(2)|central_nervous_system(1) 14 Adenosine triphosphate(DB00171)|Dasatinib(DB01254) CCCCACCATTCTTCTCTTTAC 0.617 NA T ETV6 AML 35 47 0 0 0.013726 0 0 HMCN1 83872 broad.mit.edu 37 1 186014906 186014906 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:186014906C>T uc001grq.1 + 41 6620 c.6391C>T c.(6391-6393)CCC>TCC p.P2131S NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 2131 Ig-like C2-type 19. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 TGATGCTATTCCCCCACCTAC 0.418 NA 4 36 0 0 0.009096 0 0 FAM5C 339479 broad.mit.edu 37 1 190068179 190068179 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:190068179G>T uc001gse.1 - 8 1502 c.1270C>A c.(1270-1272)CAC>AAC p.H424N FAM5C_uc010pot.1_Missense_Mutation_p.H322N NM_199051 NP_950252 Q76B58 FAM5C_HUMAN family with sequence similarity 5, member C 424 extracellular region lung(2)|ovary(1)|kidney(1)|skin(1) 5 Prostate(682;0.198) GTGCACGAGTGCGTCTCTTCT 0.552 NA 11 29 4.68919e-08 5.56267e-08 0.008291 1 0 ASPM 259266 broad.mit.edu 37 1 197115467 197115467 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:197115467G>C uc001gtu.2 - 1 358 c.101C>G c.(100-102)TCT>TGT p.S34C ASPM_uc001gtv.2_Missense_Mutation_p.S34C|ASPM_uc001gtw.3_5'UTR NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 34 mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 CGGCGGGGAagacgcctcctc 0.308 NA 4 107 0 0 0.009096 0 0 NR5A2 2494 broad.mit.edu 37 1 200017620 200017621 + Missense_Mutation DNP GG GG TT TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:200017620_200017621GG>TT uc001gvb.2 + 5 990_991 c.784_785GG>TT c.(784-786)GGC>TTC p.G262F NR5A2_uc001gvc.2_Missense_Mutation_p.G216F|NR5A2_uc009wzh.2_Missense_Mutation_p.G222F|NR5A2_uc010pph.1_Missense_Mutation_p.G190F NM_205860 NP_995582 O00482 NR5A2_HUMAN nuclear receptor subfamily 5, group A, member 2 262 embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Prostate(682;0.19) CCAAACATATGGCCACTTTCCT 0.51 Melanoma(179;1138 2773 15678 26136) NA 9 72 0 0 0.004672 0 0 CAMSAP1L1 23271 broad.mit.edu 37 1 200730088 200730088 + Silent SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:200730088C>G uc001gvl.2 + 2 531 c.261C>G c.(259-261)CTC>CTG p.L87L CAMSAP1L1_uc001gvk.2_Silent_p.L87L|CAMSAP1L1_uc001gvm.2_Silent_p.L87L NM_203459 NP_982284 Q08AD1 CAMP2_HUMAN calmodulin regulated spectrin-associated protein 87 cytoplasm|microtubule protein binding ovary(2)|large_intestine(1)|pancreas(1) 4 CTGGGAGTCTCATTCTCAAGA 0.433 NA 13 93 0 0 0.001855 0 0 LAD1 3898 broad.mit.edu 37 1 201356047 201356047 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:201356047G>C uc001gwm.2 - 3 677 c.442C>G c.(442-444)CGG>GGG p.R148G LAD1_uc009wzu.1_Missense_Mutation_p.R170G NM_005558 NP_005549 O00515 LAD1_HUMAN ladinin 1 148 basement membrane structural molecule activity 0 CGCTGTTCCCGACTCAGTCTC 0.612 NA 12 139 0 0 0.013537 0 0 PRELP 5549 broad.mit.edu 37 1 203455883 203455883 + Silent SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:203455883C>T uc001gzs.2 + 3 1223 c.1023C>T c.(1021-1023)GAC>GAT p.D341D PRELP_uc001gzt.2_Silent_p.D341D NM_002725 NP_002716 P51888 PRELP_HUMAN proline arginine-rich end leucine-rich repeat 341 LRR 11. skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent ovary(1)|central_nervous_system(1)|pancreas(1) 3 BRCA - Breast invasive adenocarcinoma(75;0.109) CGTTCCATGACTTCTCCTCGG 0.562 NA 14 35 0 0 0.00245 0 0 GOLT1A 127845 broad.mit.edu 37 1 204183019 204183019 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:204183019C>G uc001has.1 - 1 202 c.16G>C c.(16-18)GAA>CAA p.E6Q GOLT1A_uc001hat.1_Missense_Mutation_p.E6Q NM_198447 NP_940849 Q6ZVE7 GOT1A_HUMAN golgi transport 1 homolog A 6 Cytoplasmic (Potential). protein transport|vesicle-mediated transport Golgi membrane|integral to membrane 0 all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244) CTCTGCCATTCGGTGATGGAG 0.642 NA 6 24 0 0 0.001168 0 0 NUCKS1 64710 broad.mit.edu 37 1 205696877 205696877 + Nonsense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:205696877G>A uc001hdb.2 - 3 384 c.124C>T c.(124-126)CGA>TGA p.R42* NM_022731 NP_073568 Q9H1E3 NUCKS_HUMAN nuclear casein kinase and cyclin-dependent 42 nucleus 0 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0194) TTAGCTTCTCGGGGAGATGAT 0.378 NA 7 41 0 0 0.001984 0 0 PLXNA2 5362 broad.mit.edu 37 1 208390760 208390760 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:208390760C>A uc001hgz.2 - 2 1266 c.508G>T c.(508-510)GGG>TGG p.G170W PLXNA2_uc001hha.3_Missense_Mutation_p.G224W NM_025179 NP_079455 O75051 PLXA2_HUMAN plexin A2 precursor 170 Extracellular (Potential).|Sema. axon guidance integral to membrane|intracellular|plasma membrane ovary(2)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(81;0.199) ACAATCACCCCGTACATGGTG 0.587 NA 38 289 1.56738e-10 1.93688e-10 0.004289 1 0 FAM71A 149647 broad.mit.edu 37 1 212798989 212798989 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:212798989C>T uc001hjk.2 + 1 1174 c.770C>T c.(769-771)GCA>GTA p.A257V uc010pth.1_RNA NM_153606 NP_705834 Q8IYT1 FA71A_HUMAN hypothetical protein LOC149647 257 skin(3)|ovary(1)|central_nervous_system(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094) GTGCTCAATGCATCCATCCCC 0.413 NA 17 173 0 0 0.007413 0 0 PTPN14 5784 broad.mit.edu 37 1 214551349 214551349 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:214551349G>A uc001hkk.1 - 14 2912 c.2641C>T c.(2641-2643)CGG>TGG p.R881W PTPN14_uc010pty.1_Missense_Mutation_p.R782W NM_005401 NP_005392 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 881 lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding breast(2)|ovary(1)|kidney(1)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) TTCTCTTCCCGCCCTGAGACT 0.547 Colon(92;557 1424 24372 34121 40073) NA 31 47 0 0 0.009535 0 0 PTPN14 5784 broad.mit.edu 37 1 214557780 214557780 + Missense_Mutation SNP T T A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:214557780T>A uc001hkk.1 - 13 1689 c.1418A>T c.(1417-1419)AAC>ATC p.N473I PTPN14_uc010pty.1_Missense_Mutation_p.N374I NM_005401 NP_005392 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 473 lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding breast(2)|ovary(1)|kidney(1)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) GGCATGGGTGTTGATAATGTT 0.562 Colon(92;557 1424 24372 34121 40073) NA 138 143 0 0 0.01441 0 0 USH2A 7399 broad.mit.edu 37 1 216348824 216348824 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:216348824G>A uc001hku.1 - 21 4784 c.4397C>T c.(4396-4398)GCA>GTA p.A1466V USH2A_uc001hkv.2_Missense_Mutation_p.A1466V NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 1466 Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TTGTGCTGGTGCTAAATATTA 0.373 NA HNSCC(13;0.011) 12 30 0 0 0.001855 0 0 MARK1 4139 broad.mit.edu 37 1 220825366 220825366 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:220825366G>C uc001hmn.3 + 15 2207 c.1610G>C c.(1609-1611)GGC>GCC p.G537A MARK1_uc009xdw.2_Missense_Mutation_p.G537A|MARK1_uc010pun.1_Missense_Mutation_p.G537A|MARK1_uc001hmm.3_Missense_Mutation_p.G515A NM_018650 NP_061120 Q9P0L2 MARK1_HUMAN MAP/microtubule affinity-regulating kinase 1 537 intracellular protein kinase cascade cytoplasm|microtubule cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(4)|central_nervous_system(2)|skin(2)|stomach(1)|lung(1) 10 GBM - Glioblastoma multiforme(131;0.0407) TCTTCTGCAGGCTCTTCTGTG 0.463 NA 13 78 0 0 0.001855 0 0 DEGS1 8560 broad.mit.edu 37 1 224377623 224377623 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:224377623G>A uc001hoj.2 + 2 538 c.427G>A c.(427-429)GAT>AAT p.D143N DEGS1_uc001hoi.2_Missense_Mutation_p.D122N NM_144780 NP_659004 O15121 DEGS1_HUMAN degenerative spermatocyte homolog 1, lipid 143 sphingolipid metabolic process|unsaturated fatty acid biosynthetic process endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction electron carrier activity|protein binding|sphingolipid delta-4 desaturase activity 0 Breast(184;0.193) GBM - Glioblastoma multiforme(131;0.00643) CGTCGATGTAGATATTCCTAC 0.408 NA 17 96 0 0 0.00499 0 0 CNIH3 149111 broad.mit.edu 37 1 224872505 224872505 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:224872505G>C uc001hos.1 + 3 856 c.158G>C c.(157-159)CGG>CCG p.R53P NM_152495 NP_689708 Q8TBE1 CNIH3_HUMAN cornichon homolog 3 53 Lumenal (Potential). intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|postsynaptic membrane 0 Breast(184;0.218) GBM - Glioblastoma multiforme(131;0.073) TAGAGGGAACGGTTGAGGAAC 0.542 NA 6 84 0 0 0.001984 0 0 ACBD3 64746 broad.mit.edu 37 1 226340111 226340111 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:226340111C>G uc001hpy.2 - 7 1347 c.1300G>C c.(1300-1302)GAA>CAA p.E434Q NM_022735 NP_073572 Q9H3P7 GCP60_HUMAN acyl-Coenzyme A binding domain containing 3 434 GOLD. steroid biosynthetic process|transport Golgi membrane|integral to membrane|mitochondrion fatty-acyl-CoA binding|protein binding 0 Breast(184;0.158) GBM - Glioblastoma multiforme(131;0.121) TCTGTCCATTCAAAATACACC 0.468 NA 5 140 0 0 0.000602 0 0 WNT9A 7483 broad.mit.edu 37 1 228109549 228109549 + Silent SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:228109549G>A uc001hri.2 - 4 856 c.768C>T c.(766-768)ACC>ACT p.T256T NM_003395 NP_003386 O14904 WNT9A_HUMAN wingless-type MMTV integration site family, 256 anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity central_nervous_system(1)|pancreas(1) 2 Prostate(94;0.0405) CTTCATTGGTGGTGCTGCCCA 0.672 NA 14 99 0 0 0.00245 0 0 C1orf69 200205 broad.mit.edu 37 1 228363178 228363178 + Silent SNP A A G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:228363178A>G uc001hsl.3 + 3 1124 c.1035A>G c.(1033-1035)GCA>GCG p.A345A C1orf69_uc010pvw.1_Silent_p.A152A NM_001010867 NP_001010867 Q5T440 CAF17_HUMAN hypothetical protein LOC200205 precursor 345 glycine catabolic process|heme biosynthetic process mitochondrion aminomethyltransferase activity 0 Prostate(94;0.0405) CCTTAGCCGCATCTGTGCCAG 0.647 NA 73 95 0 0 0.01441 0 0 OBSCN 84033 broad.mit.edu 37 1 228559464 228559464 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:228559464C>G uc009xez.1 + 94 21029 c.20985C>G c.(20983-20985)ATC>ATG p.I6995M OBSCN_uc001hsr.1_Missense_Mutation_p.I1624M NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 6995 Pro-rich. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) GGGCCCCTATCAGGGACATGG 0.692 NA 28 28 0 0 0.009535 0 0 CAPN9 10753 broad.mit.edu 37 1 230910379 230910379 + Splice_Site SNP T T A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:230910379T>A uc001htz.1 + 8 1066 c.953_splice c.e8+2 p.W318_splice CAPN9_uc009xfg.1_Splice_Site_p.W255_splice|CAPN9_uc001hua.1_Intron NM_006615 NP_006606 O14815 CAN9_HUMAN calpain 9 isoform 1 digestion|proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity ovary(1) 1 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) GGAATTCTGGTACCGTGCTTG 0.502 NA 8 41 0 0 0.00308 0 0 TARBP1 6894 broad.mit.edu 37 1 234593467 234593467 + Silent SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:234593467G>A uc001hwd.2 - 9 1668 c.1668C>T c.(1666-1668)CTC>CTT p.L556L NM_005646 NP_005637 Q13395 TARB1_HUMAN TAR RNA binding protein 1 556 regulation of transcription from RNA polymerase II promoter|RNA processing nucleus RNA binding|RNA methyltransferase activity ovary(2)|skin(1) 3 Ovarian(103;0.0339) all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172) OV - Ovarian serous cystadenocarcinoma(106;0.000263) TCAGAGACATGAGAAAAGTTG 0.328 NA 18 15 0 0 0.012319 0 0 TBCE 6905 broad.mit.edu 37 1 235612020 235612020 + Silent SNP A A C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:235612020A>C uc001hwz.1 + 17 1650 c.1527A>C c.(1525-1527)CTA>CTC p.L509L TBCE_uc001hxa.1_Silent_p.L509L|TBCE_uc010pxr.1_Silent_p.L560L|TBCE_uc001hxb.1_Silent_p.L396L|B3GALNT2_uc001hxc.2_3'UTR NM_003193 NP_003184 Q15813 TBCE_HUMAN beta-tubulin cofactor E 509 'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway cytoplasm|microtubule|nucleus|plasma membrane chaperone binding 0 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238) OV - Ovarian serous cystadenocarcinoma(106;2.56e-05) AAAATGACCTAAAGTCATTAC 0.393 NA 9 54 0 0 0.006214 0 0 ACTN2 88 broad.mit.edu 37 1 236918345 236918345 + Silent SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:236918345C>T uc001hyf.2 + 17 2205 c.2001C>T c.(1999-2001)ATC>ATT p.I667I ACTN2_uc001hyg.2_Silent_p.I459I|ACTN2_uc009xgi.1_Silent_p.I667I|ACTN2_uc010pxu.1_Silent_p.I356I|ACTN2_uc001hyh.2_Silent_p.I355I NM_001103 NP_001094 P35609 ACTN2_HUMAN actinin, alpha 2 667 Spectrin 4. focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding ovary(4)|skin(1) 5 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) CCATCCAGATCACAGGAGCCC 0.557 NA 28 130 0 0 0.007291 0 0 RYR2 6262 broad.mit.edu 37 1 237753224 237753224 + Missense_Mutation SNP A A G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:237753224A>G uc001hyl.1 + 30 3850 c.3730A>G c.(3730-3732)AAC>GAC p.N1244D NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 1244 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) CGTTAATACAAACAGGGATAT 0.398 NA 17 25 0 0 0.00499 0 0 ZP4 57829 broad.mit.edu 37 1 238050702 238050702 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:238050702G>A uc001hym.2 - 5 713 c.713C>T c.(712-714)CCA>CTA p.P238L LOC100130331_uc010pyc.1_Intron NM_021186 NP_067009 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 preproprotein 238 ZP.|Extracellular (Potential). acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity ovary(2)|skin(1) 3 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) GGAAGTAAATGGAAACTGGAA 0.522 NSCLC(166;160 2029 11600 18754 19936) NA 15 94 0 0 0.006122 0 0 C1orf101 257044 broad.mit.edu 37 1 244716037 244716037 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:244716037G>A uc001iam.2 + 9 1009 c.950G>A c.(949-951)GGA>GAA p.G317E C1orf101_uc001iak.1_Intron|C1orf101_uc001ial.2_Missense_Mutation_p.G317E|C1orf101_uc010pym.1_Missense_Mutation_p.G166E|C1orf101_uc010pyn.1_Missense_Mutation_p.G250E NM_001130957 NP_001124429 Q5SY80 CA101_HUMAN hypothetical protein LOC257044 isoform 1 317 Extracellular (Potential). integral to membrane ovary(1)|breast(1) 2 all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121) all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154) ATAAGACTGGGAGGAATTGTA 0.343 NA 43 41 0 0 0.011902 0 0 AHCTF1 25909 broad.mit.edu 37 1 247065962 247065962 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:247065962C>T uc001ibu.1 - 7 989 c.982G>A c.(982-984)GAA>AAA p.E328K AHCTF1_uc001ibv.1_Missense_Mutation_p.E337K NM_015446 NP_056261 Q8WYP5 ELYS_HUMAN transcription factor ELYS 328 Necessary for cytoplasmic localization (By similarity). cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm DNA binding ovary(5)|skin(2) 7 all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) TATCTTTCTTCACAGTATTCT 0.368 Colon(145;197 1800 4745 15099 26333) NA 16 71 0 0 0.00499 0 0 OR2W5 441932 broad.mit.edu 37 1 247654775 247654775 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:247654775G>A uc001icz.1 + 1 346 c.346G>A c.(346-348)GTT>ATT p.V116I NM_001004698 NP_001004698 A6NFC9 OR2W5_HUMAN olfactory receptor, family 2, subfamily W, 116 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1)|skin(1) 3 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.222) OV - Ovarian serous cystadenocarcinoma(106;0.0188) CGTCCTCCTGGTTGTCATGTC 0.607 NA 55 82 0 0 0.01441 0 0 OR2C3 81472 broad.mit.edu 37 1 247695646 247695646 + Silent SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:247695646G>T uc009xgy.2 - 2 530 c.168C>A c.(166-168)CTC>CTA p.L56L C1orf150_uc009xgw.2_Intron|C1orf150_uc001ida.3_Intron|C1orf150_uc001idb.3_Intron|C1orf150_uc009xgx.2_Intron|LOC148824_uc001idd.2_5'Flank NM_198074 NP_932340 Q8N628 OR2C3_HUMAN olfactory receptor, family 2, subfamily C, 56 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0242) OV - Ovarian serous cystadenocarcinoma(106;0.0241) TAGGTGTGTGGAGGTGCACAT 0.493 NA 46 52 1.76056e-25 2.42306e-25 0.011902 1 0 OR13G1 441933 broad.mit.edu 37 1 247835786 247835786 + Silent SNP A A G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:247835786A>G uc001idi.1 - 1 558 c.558T>C c.(556-558)TGT>TGC p.C186C NM_001005487 NP_001005487 Q8NGZ3 O13G1_HUMAN olfactory receptor, family 13, subfamily G, 186 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) TTACAGGGCTACAGGACAAAG 0.463 NA 6 52 0 0 0.001984 0 0 OR13G1 441933 broad.mit.edu 37 1 247836167 247836167 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:247836167G>T uc001idi.1 - 1 177 c.177C>A c.(175-177)TTC>TTA p.F59L NM_001005487 NP_001005487 Q8NGZ3 O13G1_HUMAN olfactory receptor, family 13, subfamily G, 59 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) GTGTCAGAAGGAAAACATACA 0.418 NA 14 10 1.05317e-09 1.28397e-09 0.00245 1 0 OR6F1 343169 broad.mit.edu 37 1 247875710 247875710 + Silent SNP T T A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:247875710T>A uc001idj.1 - 1 348 c.348A>T c.(346-348)GCA>GCT p.A116A NM_001005286 NP_001005286 Q8NGZ6 OR6F1_HUMAN olfactory receptor, family 6, subfamily F, 116 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0168) AAGCCATGGCTGCCAGGAGGA 0.517 NA 7 47 0 0 0.001984 0 0 OR2W3 343171 broad.mit.edu 37 1 248059305 248059305 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:248059305G>T uc001idp.1 + 3 686 c.417G>T c.(415-417)AGG>AGT p.R139S OR2W3_uc010pzb.1_Missense_Mutation_p.R139S NM_001001957 NP_001001957 Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, 139 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1)|pancreas(1) 3 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) TGAACCCCAGGCTCTGCCGGG 0.627 NA 47 44 1.7489e-18 2.34263e-18 0.011902 1 0 OR2M2 391194 broad.mit.edu 37 1 248343411 248343411 + Missense_Mutation SNP A A T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:248343411A>T uc010pzf.1 + 1 124 c.124A>T c.(124-126)AAC>TAC p.N42Y NM_001004688 NP_001004688 Q96R28 OR2M2_HUMAN olfactory receptor, family 2, subfamily M, 42 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|skin(1) 4 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) CTTCATGGGAAACTCTGTCAT 0.522 NA 115 124 0 0 0.01441 0 0 OR2T6 254879 broad.mit.edu 37 1 248551236 248551236 + Silent SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:248551236G>T uc001iei.1 + 1 327 c.327G>T c.(325-327)GGG>GGT p.G109G NM_001005471 NP_001005471 Q8NHC8 OR2T6_HUMAN olfactory receptor, family 2, subfamily T, 109 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(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;0.0265) GCTTTATGGGGGCTGAATTCT 0.562 NA 15 76 0.000308642 0.000328795 0.003163 1 0 OR2T34 127068 broad.mit.edu 37 1 248737412 248737412 + Missense_Mutation SNP A A G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:248737412A>G uc001iep.1 - 1 647 c.647T>C c.(646-648)ATC>ACC p.I216T NM_001001821 NP_001001821 Q8NGX1 O2T34_HUMAN olfactory receptor, family 2, subfamily T, 216 Helical; Name=5; (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) GATGACCATGATGGGGGTGAG 0.572 NA 28 100 0 0 0.007291 0 0 OR2T27 403239 broad.mit.edu 37 1 248813783 248813783 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:248813783G>C uc010pzo.1 - 1 403 c.403C>G c.(403-405)CTC>GTC p.L135V NM_001001824 NP_001001824 Q8NH04 O2T27_HUMAN olfactory receptor, family 2, subfamily T, 135 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199) all_cancers(173;0.237) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CGGCTCATGAGGACAGGATAG 0.552 NA 23 15 0 0 0.008361 0 0 ZNF692 55657 broad.mit.edu 37 1 249144947 249144947 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:249144947C>A uc001ifc.1 - 11 1354 c.1187G>T c.(1186-1188)CGG>CTG p.R396L ZNF692_uc001iez.1_Missense_Mutation_p.R118L|ZNF692_uc001ifa.1_Missense_Mutation_p.R118L|ZNF692_uc001ifb.1_Missense_Mutation_p.R192L|ZNF692_uc001ifd.1_Missense_Mutation_p.R395L|ZNF692_uc001ife.1_RNA|ZNF692_uc001iff.1_Missense_Mutation_p.R351L|ZNF692_uc010pzr.1_Missense_Mutation_p.R401L NM_017865 NP_060335 Q9BU19 ZN692_HUMAN zinc finger protein 692 isoform 2 396 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.19) OV - Ovarian serous cystadenocarcinoma(106;0.00805) GCGGAAAGACCGGGCGCAGAA 0.622 NA 15 59 2.31682e-05 2.54658e-05 0.003163 1 0 PGBD2 267002 broad.mit.edu 37 1 249210873 249210873 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:249210873G>T uc001ifh.2 + 3 237 c.90G>T c.(88-90)ATG>ATT p.M30I PGBD2_uc001ifg.2_Intron|PGBD2_uc009xhd.2_Missense_Mutation_p.M27I NM_170725 NP_733843 Q6P3X8 PGBD2_HUMAN hypothetical protein LOC267002 isoform a 30 ovary(1) 1 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.012) OV - Ovarian serous cystadenocarcinoma(106;0.00989) TGAATGCTATGGAGGAGGAAG 0.478 NA 8 42 0.00448238 0.00463893 0.004482 1 0 KLF6 1316 broad.mit.edu 37 10 3822343 3822343 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr10:3822343C>G uc001iha.2 - 3 1022 c.755G>C c.(754-756)CGA>CCA p.R252P KLF6_uc010qaj.1_Intron|KLF6_uc010qak.1_RNA|KLF6_uc010qal.1_Missense_Mutation_p.R210P NM_001300 NP_001291 Q99612 KLF6_HUMAN Kruppel-like factor 6 isoform A 252 C2H2-type 2. B cell differentiation nucleus zinc ion binding central_nervous_system(3)|lung(1) 4 Colorectal(1;0.238) GGTGTGCTTTCGGAAGTGCCT 0.542 NA 7 26 0 0 0.001984 0 0 USP6NL 9712 broad.mit.edu 37 10 11505373 11505373 + Silent SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr10:11505373G>T uc001ikt.3 - 15 1875 c.1554C>A c.(1552-1554)ACC>ACA p.T518T USP6NL_uc001iks.1_Silent_p.T535T NM_014688 NP_055503 Q92738 US6NL_HUMAN USP6 N-terminal like isoform 1 518 intracellular Rab GTPase activator activity 0 GACCTGGGACGGTAACTGCGA 0.597 NA 69 76 6.26901e-30 8.7357e-30 0.01441 1 0 FRMD4A 55691 broad.mit.edu 37 10 13702486 13702486 + Silent SNP T T A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr10:13702486T>A uc001ims.2 - 20 2080 c.1728A>T c.(1726-1728)CCA>CCT p.P576P FRMD4A_uc009xjf.1_Silent_p.P576P NM_018027 NP_060497 Q9P2Q2 FRM4A_HUMAN FERM domain containing 4A 576 cytoplasm|cytoskeleton binding ovary(1)|skin(1)|pancreas(1) 3 TGTGCGACGGTGGCCGAGGAG 0.562 NA OREG0020030 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 38 44 0 0 0.003755 0 0 FAM107B 83641 broad.mit.edu 37 10 14563219 14563219 + Silent SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr10:14563219G>C uc001imx.1 - 4 611 c.366C>G c.(364-366)GGC>GGG p.G122G FAM107B_uc001ina.1_Silent_p.G297G|FAM107B_uc010qbu.1_RNA|FAM107B_uc009xjg.1_Silent_p.G122G|FAM107B_uc001imy.1_Silent_p.G122G|FAM107B_uc001imz.1_Silent_p.G122G NM_031453 NP_113641 Q9H098 F107B_HUMAN hypothetical protein LOC83641 122 breast(4) 4 CGACTTCTTGGCCTGTTCTCC 0.517 NA 51 79 0 0 0.01441 0 0 SUV39H2 79723 broad.mit.edu 37 10 14939210 14939210 + Silent SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr10:14939210C>T uc001inh.2 + 2 419 c.363C>T c.(361-363)ATC>ATT p.I121I SUV39H2_uc001ing.2_Intron|SUV39H2_uc001ini.2_Silent_p.I121I|SUV39H2_uc001inj.2_Silent_p.I121I NM_024670 NP_078946 Q9H5I1 SUV92_HUMAN suppressor of variegation 3-9 homolog 2 181 cell cycle|cell differentiation|chromatin assembly or disassembly|chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin|chromosome, centromeric region|nucleus histone methyltransferase activity (H3-K9 specific)|protein binding|zinc ion binding breast(2)|ovary(1) 3 CTCCTGGAATCAGCTTAGTCA 0.363 NA 13 58 0 0 0.013537 0 0 OLAH 55301 broad.mit.edu 37 10 15103747 15103747 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr10:15103747G>T uc001inu.2 + 4 442 c.188G>T c.(187-189)AGA>ATA p.R63I ACBD7_uc010qby.1_Intron|OLAH_uc001int.2_Missense_Mutation_p.R116I NM_001039702 NP_001034791 Q9NV23 SAST_HUMAN oleoyl-ACP hydrolase isoform 2 63 fatty acid biosynthetic process myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity 0 CTTCCTGGAAGAGAAAGCAGA 0.423 NA 17 23 2.23348e-06 2.53163e-06 0.004007 1 0 C10orf111 221060 broad.mit.edu 37 10 15138469 15138469 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr10:15138469G>A uc001inw.2 - 2 629 c.355C>T c.(355-357)CTT>TTT p.L119F RPP38_uc001iny.3_5'Flank|RPP38_uc009xjm.2_5'Flank|RPP38_uc001inx.3_5'Flank NM_153244 NP_694976 Q8N326 CJ111_HUMAN hypothetical protein LOC221060 119 Helical; (Potential). integral to membrane 0 GCGGGGAGAAGGAGGAGGCTC 0.478 NA 26 30 0 0 0.003954 0 0 NMT2 9397 broad.mit.edu 37 10 15210517 15210517 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr10:15210517G>C uc001inz.1 - 1 179 c.95C>G c.(94-96)ACG>AGG p.T32R NMT2_uc001ioa.1_Missense_Mutation_p.R5G|NMT2_uc009xjo.1_Missense_Mutation_p.T32R NM_004808 NP_004799 O60551 NMT2_HUMAN N-myristoyltransferase 2 32 N-terminal protein myristoylation|protein lipoylation Golgi apparatus|plasma membrane glycylpeptide N-tetradecanoyltransferase activity ovary(1) 1 GGCGTGCTCCGTCTCCTCCTC 0.726 Melanoma(117;1345 1645 4130 12688 30625) NA 9 68 0 0 0.008291 0 0 ITGA8 8516 broad.mit.edu 37 10 15760843 15760843 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr10:15760843C>T uc001ioc.1 - 2 265 c.265G>A c.(265-267)GAA>AAA p.E89K ITGA8_uc010qcb.1_Missense_Mutation_p.E89K NM_003638 NP_003629 P53708 ITA8_HUMAN integrin, alpha 8 precursor 89 Extracellular (Potential).|FG-GAP 1. cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity ovary(3)|lung(3) 6 GCTCCCCCTTCCACGATATCG 0.567 NA 21 102 0 0 0.014323 0 0 ST8SIA6 338596 broad.mit.edu 37 10 17495561 17495561 + Missense_Mutation SNP T T A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr10:17495561T>A uc001ipd.2 - 2 197 c.197A>T c.(196-198)AAC>ATC p.N66I ST8SIA6_uc010qce.1_RNA NM_001004470 NP_001004470 P61647 SIA8F_HUMAN ST8 alpha-N-acetyl-neuraminide 66 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity ovary(1) 1 GCTGTACCTGTTAGTGGCGCG 0.731 NA 3 11 0 0 0.004672 0 0 GPR158 57512 broad.mit.edu 37 10 25861687 25861687 + Missense_Mutation SNP A A C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr10:25861687A>C uc001isj.2 + 7 1684 c.1624A>C c.(1624-1626)ATT>CTT p.I542L NM_020752 NP_065803 Q5T848 GP158_HUMAN G protein-coupled receptor 158 precursor 542 Helical; Name=4; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(4)|large_intestine(2)|pancreas(1)|skin(1) 8 TTGGTTTCTCATTGGCTGGAC 0.453 NA 14 29 0 0 0.00245 0 0 GPR158 57512 broad.mit.edu 37 10 25887236 25887236 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr10:25887236C>A uc001isj.2 + 11 2741 c.2681C>A c.(2680-2682)CCA>CAA p.P894Q GPR158_uc001isk.2_Missense_Mutation_p.P269Q NM_020752 NP_065803 Q5T848 GP158_HUMAN G protein-coupled receptor 158 precursor 894 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(4)|large_intestine(2)|pancreas(1)|skin(1) 8 ACTGGGCACCCACGAACATCG 0.517 NA 21 88 4.96729e-08 5.87338e-08 0.008871 1 0 LYZL2 119180 broad.mit.edu 37 10 30918542 30918542 + Silent SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr10:30918542G>T uc001ivk.2 - 1 106 c.93C>A c.(91-93)GGC>GGA p.G31G NM_183058 NP_898881 Q7Z4W2 LYZL2_HUMAN lysozyme-like 2 Error:Variant_position_missing_in_Q7Z4W2_after_alignment cell wall macromolecule catabolic process extracellular region lysozyme activity 0 Prostate(175;0.151) GATTCCTGGTGCCTGCCGCAG 0.517 NA 11 32 3.86212e-05 4.21639e-05 0.008291 1 0 Unknown 0 broad.mit.edu 37 10 30998254 30998254 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr10:30998254G>T uc010qdx.1 + 8 1342 c.800G>T c.(799-801)CGC>CTC p.R267L SubName: Full=cDNA FLJ59642, highly similar to Supervillin; NA TTCGCGCCCCGCCTGTTCGTC 0.507 NA 8 20 7.48243e-07 8.60894e-07 0.006214 1 0 ARHGAP12 94134 broad.mit.edu 37 10 32103262 32103262 + Nonsense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr10:32103262C>A uc001ivz.1 - 14 2029 c.1759G>T c.(1759-1761)GAG>TAG p.E587* ARHGAP12_uc001ivy.1_Nonsense_Mutation_p.E533*|ARHGAP12_uc009xls.2_Nonsense_Mutation_p.E538*|ARHGAP12_uc001iwb.1_Nonsense_Mutation_p.E580*|ARHGAP12_uc001iwc.1_Nonsense_Mutation_p.E555*|ARHGAP12_uc009xlq.1_Nonsense_Mutation_p.E508*|ARHGAP12_uc001iwd.1_Nonsense_Mutation_p.E555*|ARHGAP12_uc009xlr.1_Nonsense_Mutation_p.E585* NM_018287 NP_060757 Q8IWW6 RHG12_HUMAN Rho GTPase activating protein 12 587 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity 0 Prostate(175;0.0199) GGTATCTCCTCTTCAATTCCT 0.363 NA 29 68 5.60225e-13 7.14804e-13 0.009535 1 0 ZNF248 57209 broad.mit.edu 37 10 38126615 38126615 + Silent SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr10:38126615C>T uc001izd.1 - 5 667 c.168G>A c.(166-168)GTG>GTA p.V56V ZNF248_uc009xmc.2_Silent_p.V56V|ZNF248_uc001izb.2_RNA|ZNF248_uc001izc.2_Silent_p.V56V|ZNF248_uc010qeu.1_Silent_p.V56V NM_021045 NP_066383 Q8NDW4 ZN248_HUMAN zinc finger protein 248 56 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TCTTAAAGATCACTTCTGGTT 0.438 NA 5 40 0 0 0.000602 0 0 BMS1 9790 broad.mit.edu 37 10 43292056 43292056 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr10:43292056G>T uc001jaj.2 + 10 1722 c.1364G>T c.(1363-1365)GGG>GTG p.G455V NM_014753 NP_055568 Q14692 BMS1_HUMAN BMS1-like, ribosome assembly protein 455 ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity ovary(2)|upper_aerodigestive_tract(1) 3 GAAGATGACGGGTTGGAAAAC 0.438 NA 7 31 0.00198382 0.00206488 0.001984 1 0 GDF2 2658 broad.mit.edu 37 10 48414052 48414052 + Silent SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr10:48414052C>G uc001jfa.1 - 2 979 c.816G>C c.(814-816)CTG>CTC p.L272L NM_016204 NP_057288 Q9UK05 GDF2_HUMAN growth differentiation factor 2 precursor 272 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 TCATCTCCCTCAGCTCCAGCC 0.572 NA 9 63 0 0 0.004482 0 0 GDF10 2662 broad.mit.edu 37 10 48428803 48428803 + Silent SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr10:48428803C>T uc001jfb.2 - 2 1539 c.1083G>A c.(1081-1083)ACG>ACA p.T361T GDF10_uc009xnp.2_Silent_p.T360T|GDF10_uc009xnq.1_Silent_p.T361T NM_004962 NP_004953 P55107 BMP3B_HUMAN growth differentiation factor 10 precursor 361 growth|skeletal system development|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity lung(1)|central_nervous_system(1) 2 CTTTCTGCATCGTCTTCTCGT 0.612 NA 14 50 0 0 0.003163 0 0 ERCC6 2074 broad.mit.edu 37 10 50679084 50679084 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr10:50679084C>G uc001jhs.3 - 17 3161 c.3007G>C c.(3007-3009)GAG>CAG p.E1003Q ERCC6_uc009xod.2_Missense_Mutation_p.E163Q|ERCC6_uc010qgr.1_Missense_Mutation_p.E373Q|ERCC6_uc001jhr.3_Missense_Mutation_p.E371Q NM_000124 NP_000115 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent 1003 base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1) 16 GTAAATAGCTCATAGAGATCA 0.313 NA Direct_reversal_of_damage|NER 11 68 0 0 0.010729 0 0 BICC1 80114 broad.mit.edu 37 10 60566883 60566883 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr10:60566883G>T uc001jki.1 + 17 2341 c.2341G>T c.(2341-2343)GTG>TTG p.V781L BICC1_uc001jkj.1_Missense_Mutation_p.V422L NM_001080512 NP_001073981 Q9H694 BICC1_HUMAN bicaudal C homolog 1 781 multicellular organismal development RNA binding ovary(2)|lung(1)|skin(1) 4 GGCCAATCATGTGTCCTATAA 0.468 NA 32 66 4.74835e-14 6.15041e-14 0.010818 1 0 FAM13C 220965 broad.mit.edu 37 10 61028318 61028318 + Missense_Mutation SNP A A G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr10:61028318A>G uc001jkn.2 - 9 1071 c.937T>C c.(937-939)TAC>CAC p.Y313H FAM13C_uc001jko.2_Missense_Mutation_p.Y313H|FAM13C_uc010qid.1_Missense_Mutation_p.Y230H|FAM13C_uc010qie.1_Missense_Mutation_p.Y230H|FAM13C_uc010qif.1_Missense_Mutation_p.Y335H|FAM13C_uc001jkp.2_Missense_Mutation_p.Y230H NM_198215 NP_937858 Q8NE31 FA13C_HUMAN hypothetical protein LOC220965 isoform 1 313 ovary(2) 2 CTTACCCGGTATTTCTTTTCT 0.493 NA 18 31 0 0 0.007413 0 0 CCDC6 8030 broad.mit.edu 37 10 61554281 61554281 + Missense_Mutation SNP T T A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr10:61554281T>A uc001jks.3 - 8 1816 c.1180A>T c.(1180-1182)AAT>TAT p.N394Y NM_005436 NP_005427 Q16204 CCDC6_HUMAN coiled-coil domain containing 6 394 cytoplasm|cytoskeleton SH3 domain binding|structural constituent of cytoskeleton ovary(3)|breast(1) 4 Kidney(211;0.0597) CCCGGGGAATTGTAATAAGAC 0.448 NA 24 32 0 0 0.00278 0 0 REEP3 221035 broad.mit.edu 37 10 65357812 65357812 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr10:65357812G>A uc001jmt.2 + 4 394 c.211G>A c.(211-213)GCT>ACT p.A71T REEP3_uc009xpl.1_Missense_Mutation_p.A71T NM_001001330 NP_001001330 Q6NUK4 REEP3_HUMAN receptor accessory protein 3 71 Helical; (Potential). integral to membrane 0 Prostate(12;0.0119)|all_hematologic(501;0.191) GCTGAAGATTGCTTTTGTCAT 0.348 NA 17 39 0 0 0.007413 0 0 CTNNA3 29119 broad.mit.edu 37 10 67829219 67829219 + Missense_Mutation SNP T T A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr10:67829219T>A uc009xpn.1 - 15 2129 c.2006A>T c.(2005-2007)GAA>GTA p.E669V CTNNA3_uc001jmw.2_Missense_Mutation_p.E669V NM_001127384 NP_001120856 Q9UI47 CTNA3_HUMAN catenin, alpha 3 669 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1) 8 CTTTTCTTTTTCTGCCTCAGG 0.348 NA 9 32 0 0 0.004482 0 0 SIRT1 23411 broad.mit.edu 37 10 69651262 69651262 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr10:69651262G>C uc001jnd.2 + 4 945 c.892G>C c.(892-894)GAT>CAT p.D298H SIRT1_uc010qis.1_Missense_Mutation_p.D3H|SIRT1_uc009xpp.2_Missense_Mutation_p.D106H|SIRT1_uc001jne.2_5'UTR NM_012238 NP_036370 Q96EB6 SIRT1_HUMAN sirtuin 1 isoform a 298 Deacetylase sirtuin-type. apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding 0 AGCGATGTTTGATATTGAATA 0.403 NA 24 133 0 0 0.00333 0 0 TET1 80312 broad.mit.edu 37 10 70406705 70406705 + Missense_Mutation SNP A A G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr10:70406705A>G uc001jok.3 + 4 4724 c.4219A>G c.(4219-4221)ACA>GCA p.T1407A NM_030625 NP_085128 Q8NFU7 TET1_HUMAN CXXC finger 6 1407 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding ovary(5)|lung(2)|prostate(1)|breast(1) 9 TACTAACCCTACAAAAAACCT 0.388 NA 9 36 0 0 0.006214 0 0 DDX50 79009 broad.mit.edu 37 10 70706206 70706206 + Silent SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr10:70706206G>A uc001jou.2 + 15 2141 c.2034G>A c.(2032-2034)CAG>CAA p.Q678Q DDX50_uc010qjc.1_Intron NM_024045 NP_076950 Q9BQ39 DDX50_HUMAN nucleolar protein GU2 678 Arg-rich. nucleolus ATP binding|ATP-dependent helicase activity|RNA binding ovary(1) 1 ATTCCAGACAGAGGAGTGGCT 0.522 NA 3 45 0 0 0.001984 0 0 HK1 3098 broad.mit.edu 37 10 71048521 71048521 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr10:71048521G>A uc001jpj.3 + 4 416 c.22G>A c.(22-24)GAA>AAA p.E8K HK1_uc009xqc.1_Missense_Mutation_p.E8K|HK1_uc001jpg.3_5'UTR|HK1_uc001jph.3_Missense_Mutation_p.E8K|HK1_uc001jpi.3_Missense_Mutation_p.E8K NM_033500 NP_277035 P19367 HXK1_HUMAN hexokinase 1 isoform HKI-td Error:Variant_position_missing_in_P19367_after_alignment glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane|nucleus ATP binding|glucokinase activity ovary(1) 1 CTGCCAGCGAGAATCGGTAAG 0.348 NA 4 35 0 0 0.000602 0 0 NEUROG3 50674 broad.mit.edu 37 10 71332433 71332433 + Missense_Mutation SNP C C G rs140128333 TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr10:71332433C>G uc001jpp.2 - 2 525 c.367G>C c.(367-369)GAG>CAG p.E123Q NM_020999 NP_066279 Q9Y4Z2 NGN3_HUMAN neurogenin 3 123 Helix-loop-helix motif. central nervous system development|endocrine pancreas development|peripheral nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity nucleus transcription coactivator activity 0 CGCAGCGTCTCGATCTTGGTG 0.652 NA 5 42 0 0 0.000602 0 0 KIAA1274 27143 broad.mit.edu 37 10 72292391 72292391 + Silent SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr10:72292391C>A uc001jrd.3 + 6 929 c.648C>A c.(646-648)GCC>GCA p.A216A NM_014431 NP_055246 Q9ULE6 PALD_HUMAN KIAA1274 216 ovary(2)|central_nervous_system(1) 3 ACGACTTTGCCCAGCTGAGCG 0.587 NA 22 118 1.50039e-11 1.88132e-11 0.012319 1 0 C10orf27 219793 broad.mit.edu 37 10 72541683 72541683 + Silent SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr10:72541683G>T uc001jrj.1 - 4 541 c.151C>A c.(151-153)CGG>AGG p.R51R C10orf27_uc010qjm.1_Silent_p.R51R|C10orf27_uc009xqh.1_RNA|C10orf27_uc010qjn.1_Silent_p.R51R|C10orf27_uc009xqi.1_RNA|C10orf27_uc010qjo.1_Silent_p.R40R|C10orf27_uc009xqj.1_Silent_p.R40R|C10orf27_uc010qjp.1_Silent_p.R40R NM_152710 NP_689923 Q96M53 SPATL_HUMAN stromal protein associated with thymii and lymph 51 cell differentiation|multicellular organismal development|spermatogenesis cytosol skin(1) 1 CGGCGGATCCGCTCGAAATCC 0.597 NA 41 100 6.2361e-21 8.43093e-21 0.007835 1 0 OIT3 170392 broad.mit.edu 37 10 74660219 74660219 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr10:74660219G>T uc001jte.1 + 3 739 c.521G>T c.(520-522)GGC>GTC p.G174V OIT3_uc009xqs.1_RNA NM_152635 NP_689848 Q8WWZ8 OIT3_HUMAN oncoprotein-induced transcript 3 precursor 174 nuclear envelope calcium ion binding ovary(2) 2 Prostate(51;0.0198) ACTGTGCTAGGCCCTGACAGG 0.473 Colon(7;19 345 13446 17537) NA 5 28 3.59834e-05 3.94026e-05 0.001168 1 0 TTC18 118491 broad.mit.edu 37 10 75095212 75095212 + Missense_Mutation SNP T T C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr10:75095212T>C uc009xrc.2 - 8 984 c.863A>G c.(862-864)TAC>TGC p.Y288C TTC18_uc001jty.2_Missense_Mutation_p.Y288C|TTC18_uc009xrd.1_Missense_Mutation_p.Y96C NM_145170 NP_660153 Q5T0N1 TTC18_HUMAN tetratricopeptide repeat domain 18 288 binding ovary(2)|central_nervous_system(1) 3 Prostate(51;0.0119) AGGATCAAGGTAGCAGCGACT 0.393 NA 7 21 0 0 0.001984 0 0 NDST2 8509 broad.mit.edu 37 10 75565368 75565368 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr10:75565368G>C uc001jvk.2 - 8 2527 c.1723C>G c.(1723-1725)CAG>GAG p.Q575E NDST2_uc010qks.1_Missense_Mutation_p.Q201E|NDST2_uc010qkt.1_Missense_Mutation_p.Q452E|NDST2_uc001jvl.1_5'Flank|NDST2_uc009xro.2_Missense_Mutation_p.Q201E|NDST2_uc010qku.1_Missense_Mutation_p.Q450E NM_003635 NP_003626 P52849 NDST2_HUMAN heparan glucosaminyl 575 Lumenal (Potential).|Heparan sulfate N-deacetylase 2. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity ovary(1) 1 Prostate(51;0.0112) CTTCGCTCCTGAGGGAAAAGT 0.473 NA 6 41 0 0 0.001168 0 0 KCNMA1 3778 broad.mit.edu 37 10 78651442 78651442 + Silent SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr10:78651442C>G uc001jxn.2 - 26 3360 c.3183G>C c.(3181-3183)CGG>CGC p.R1061R KCNMA1_uc001jxj.2_Silent_p.R1007R|KCNMA1_uc001jxk.1_Silent_p.R679R|KCNMA1_uc009xrt.1_Silent_p.R852R|KCNMA1_uc001jxl.1_Silent_p.R686R|KCNMA1_uc001jxo.2_Silent_p.R1044R|KCNMA1_uc001jxm.2_Silent_p.R1003R|KCNMA1_uc001jxq.2_Silent_p.R1033R|uc001jxp.2_Intron NM_001161352 NP_001154824 Q12791 KCMA1_HUMAN large conductance calcium-activated potassium 1061 Cytoplasmic (Potential). cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity pancreas(2)|ovary(1) 3 all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198) OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021) TCACCAGGGTCCGTATCAGGG 0.542 NA 14 40 0 0 0.00245 0 0 LDB3 11155 broad.mit.edu 37 10 88476445 88476445 + Silent SNP T T A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr10:88476445T>A uc001kdv.2 + 9 1616 c.1593T>A c.(1591-1593)CTT>CTA p.L531L LDB3_uc010qml.1_Silent_p.L468L|LDB3_uc010qmm.1_Silent_p.L536L|LDB3_uc001kdu.2_Silent_p.L421L|LDB3_uc009xsz.2_Silent_p.L160L|LDB3_uc009xta.1_5'Flank NM_007078 NP_009009 O75112 LDB3_HUMAN LIM domain binding 3 isoform 1 531 cytoskeleton|perinuclear region of cytoplasm|pseudopodium zinc ion binding ovary(1) 1 TGCCACCACTTGCCAGGGGGA 0.652 NA 10 50 0 0 0.006214 0 0 CYP26C1 340665 broad.mit.edu 37 10 94828349 94828349 + Silent SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr10:94828349C>T uc010qns.1 + 6 1464 c.1464C>T c.(1462-1464)GCC>GCT p.A488A CYP26C1_uc009xud.2_RNA NM_183374 NP_899230 Q6V0L0 CP26C_HUMAN cytochrome P450, family 26, subfamily C, 488 anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|retinoic acid catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding central_nervous_system(1) 1 Colorectal(252;0.122) CCACACCCGCCTTCCCCGCCA 0.692 NA 5 7 0 0 0.000602 0 0 CYP2C18 1562 broad.mit.edu 37 10 96447589 96447589 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr10:96447589G>T uc001kjv.3 + 2 557 c.231G>T c.(229-231)TTG>TTT p.L77F CYP2C18_uc001kjw.3_Missense_Mutation_p.L77F|CYP2C19_uc009xus.1_5'Flank|CYP2C19_uc010qny.1_5'Flank NM_000772 NP_000763 P33260 CP2CI_HUMAN cytochrome P450 family 2 subfamily C polypeptide 77 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding ovary(3)|lung(1)|skin(1) 5 Colorectal(252;0.09) all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805) TTGTGGTGTTGCATGGATATG 0.423 NA 40 77 1.49673e-21 2.03108e-21 0.00623 1 0 CYP2C18 1562 broad.mit.edu 37 10 96454680 96454680 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr10:96454680C>T uc001kjv.3 + 4 814 c.488C>T c.(487-489)CCC>CTC p.P163L CYP2C18_uc001kjw.3_Missense_Mutation_p.P163L|CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.1_5'UTR NM_000772 NP_000763 P33260 CP2CI_HUMAN cytochrome P450 family 2 subfamily C polypeptide 163 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding ovary(3)|lung(1)|skin(1) 5 Colorectal(252;0.09) all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805) TTAGCCTCACCCTGTGATCCC 0.328 NA 21 34 0 0 0.003954 0 0 ENTPD1 953 broad.mit.edu 37 10 97605318 97605318 + Nonsense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr10:97605318C>T uc001klh.3 + 6 1102 c.778C>T c.(778-780)CAG>TAG p.Q260* ENTPD1_uc001kle.1_Nonsense_Mutation_p.Q267*|ENTPD1_uc001kli.3_Nonsense_Mutation_p.Q267*|uc001klg.1_Intron|ENTPD1_uc010qoj.1_Nonsense_Mutation_p.Q272*|ENTPD1_uc010qok.1_Nonsense_Mutation_p.Q152*|ENTPD1_uc010qol.1_Nonsense_Mutation_p.Q152*|ENTPD1_uc010qom.1_Nonsense_Mutation_p.Q260*|ENTPD1_uc010qon.1_Nonsense_Mutation_p.Q122*|ENTPD1_uc009xva.2_Nonsense_Mutation_p.Q122*|ENTPD1_uc009xuz.2_RNA NM_001776 NP_001767 P49961 ENTP1_HUMAN ectonucleoside triphosphate diphosphohydrolase 1 260 Extracellular (Potential). cell adhesion integral to plasma membrane ATP binding ovary(3) 3 Colorectal(252;0.0821) Epithelial(162;1.31e-07)|all cancers(201;5.33e-06) TGGGAAGGATCAGGCACTCTG 0.502 NA 17 73 0 0 0.004007 0 0 SLIT1 6585 broad.mit.edu 37 10 98807550 98807550 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr10:98807550C>T uc001kmw.2 - 16 1783 c.1531G>A c.(1531-1533)GTG>ATG p.V511M SLIT1_uc009xvh.1_Missense_Mutation_p.V521M NM_003061 NP_003052 O75093 SLIT1_HUMAN slit homolog 1 precursor 511 LRRNT 3. axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space calcium ion binding|Roundabout binding ovary(4) 4 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) GGACAGACCACGTCGCTGTTG 0.647 NA 32 57 0 0 0.008361 0 0 BLOC1S2 282991 broad.mit.edu 37 10 102039910 102039910 + Missense_Mutation SNP T T C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr10:102039910T>C uc001kqw.1 - 4 391 c.368A>G c.(367-369)TAC>TGC p.Y123C BLOC1S2_uc001kqv.1_Missense_Mutation_p.Y80C NM_173809 NP_776170 Q6QNY1 BL1S2_HUMAN biogenesis of lysosome-related organelles 123 Potential. melanosome organization|microtubule nucleation|platelet dense granule organization|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of apoptosis BLOC-1 complex|centrosome|gamma-tubulin complex|nucleus gamma-tubulin binding|identical protein binding|protein C-terminus binding ovary(1) 1 Colorectal(252;0.117) Epithelial(162;2.44e-10)|all cancers(201;1.97e-08) ATCCAACTTGTAAGCTGCCTG 0.368 NA 8 49 0 0 0.004482 0 0 LZTS2 84445 broad.mit.edu 37 10 102763856 102763856 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr10:102763856G>A uc001ksj.2 + 3 1070 c.1001G>A c.(1000-1002)CGA>CAA p.R334Q LZTS2_uc010qpw.1_Missense_Mutation_p.R334Q|LZTS2_uc001ksk.2_Missense_Mutation_p.R334Q|LZTS2_uc001ksl.2_Missense_Mutation_p.R334Q|LZTS2_uc001ksm.2_RNA NM_032429 NP_115805 Q9BRK4 LZTS2_HUMAN leucine zipper, putative tumor suppressor 2 334 Potential. cell division|mitosis|Wnt receptor signaling pathway membrane|microtubule|microtubule organizing center ovary(2)|large_intestine(1)|breast(1) 4 Epithelial(162;7.3e-09)|all cancers(201;3.72e-07) GGAAAGCTCCGAGACCGGGAG 0.632 Esophageal Squamous(8;38 437 13604 19902 37640) NA 16 69 0 0 0.00499 0 0 LDB1 8861 broad.mit.edu 37 10 103870845 103870845 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr10:103870845C>A uc009xwz.2 - 4 573 c.230G>T c.(229-231)CGG>CTG p.R77L LDB1_uc001kuk.3_Missense_Mutation_p.R41L|LDB1_uc001kul.3_Missense_Mutation_p.R41L NM_001113407 NP_001106878 Q86U70 LDB1_HUMAN LIM domain binding 1 isoform 1 77 histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery nuclear chromatin|protein complex LIM domain binding|protein homodimerization activity|transcription corepressor activity large_intestine(1) 1 Colorectal(252;0.122) Epithelial(162;1.11e-07)|all cancers(201;1.82e-06) GTTCTGAAGCCGTTTGTTAAG 0.532 NA 12 40 2.80697e-09 3.40495e-09 0.010729 1 0 ADRA2A 150 broad.mit.edu 37 10 112838147 112838147 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr10:112838147C>G uc001kzo.2 + 1 1358 c.393C>G c.(391-393)TTC>TTG p.F131L NM_000681 NP_000672 P08913 ADA2A_HUMAN alpha-2A-adrenergic receptor 116 Helical; Name=3; (By similarity). actin cytoskeleton organization|activation of MAPK activity by adrenergic receptor signaling pathway|activation of phospholipase C activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cellular component movement|cellular response to hormone stimulus|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|glucose homeostasis|inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway|intestinal absorption|negative regulation of adrenergic receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of epinephrine secretion|negative regulation of insulin secretion involved in cellular response to glucose stimulus|negative regulation of lipid catabolic process|negative regulation of norepinephrine secretion|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine production|positive regulation of membrane protein ectodomain proteolysis|positive regulation of potassium ion transport|positive regulation of wound healing|Rho protein signal transduction basolateral plasma membrane|cytoplasm|integral to plasma membrane|receptor complex alpha-1B adrenergic receptor binding|alpha-2C adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|heterotrimeric G-protein binding|norepinephrine binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|thioesterase binding 0 Breast(234;0.0735)|Lung NSC(174;0.238) Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118) Amitriptyline(DB00321)|Amphetamine(DB00182)|Apraclonidine(DB00964)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Clonidine(DB00575)|Debrisoquin(DB04840)|Dexmedetomidine(DB00633)|Dipivefrin(DB00449)|Epinastine(DB00751)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Lofexidine(DB04948)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Oxymetazoline(DB00935)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Tizanidine(DB00697)|Trazodone(DB00656)|Yohimbine(DB01392) ACGTGCTCTTCTGCACGTCGT 0.622 Esophageal Squamous(173;605 2658 7278 49362) NA 10 33 0 0 0.006214 0 0 C10orf81 79949 broad.mit.edu 37 10 115540407 115540407 + Missense_Mutation SNP A A G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr10:115540407A>G uc009xyc.1 + 13 1659 c.968A>G c.(967-969)CAT>CGT p.H323R C10orf81_uc001lar.1_3'UTR|C10orf81_uc001las.1_Missense_Mutation_p.H323R|C10orf81_uc001lau.1_Missense_Mutation_p.H239R|C10orf81_uc001lav.2_5'Flank Q5SXH7 CJ081_HUMAN RecName: Full=PH domain-containing protein C10orf81; 419 central_nervous_system(1) 1 Colorectal(252;0.175) Epithelial(162;0.0181)|all cancers(201;0.0204) GAGACATTCCATGCTGCATCC 0.423 NA 6 32 0 0 0.001168 0 0 ATRNL1 26033 broad.mit.edu 37 10 116925403 116925403 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr10:116925403C>G uc001lcg.2 + 7 1476 c.1090C>G c.(1090-1092)CAG>GAG p.Q364E ATRNL1_uc001lce.2_RNA|ATRNL1_uc001lcf.2_Missense_Mutation_p.Q364E|ATRNL1_uc009xyq.2_Intron NM_207303 NP_997186 Q5VV63 ATRN1_HUMAN attractin-like 1 precursor 364 Extracellular (Potential).|Kelch 1. integral to membrane sugar binding ovary(5)|lung(1)|central_nervous_system(1) 7 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) TGCTTTATATCAGGTATGGCT 0.313 NA 3 24 0 0 0.004672 0 0 PDZD8 118987 broad.mit.edu 37 10 119043108 119043108 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr10:119043108C>T uc001lde.1 - 5 3335 c.3136G>A c.(3136-3138)GAA>AAA p.E1046K NM_173791 NP_776152 Q8NEN9 PDZD8_HUMAN PDZ domain containing 8 1046 Potential. intracellular signal transduction metal ion binding 0 Colorectal(252;0.19) all cancers(201;0.0121) TGATCAATTTCATTCTGTAGC 0.383 NA 17 63 0 0 0.004007 0 0 PPAPDC1A 196051 broad.mit.edu 37 10 122263423 122263423 + Silent SNP T T A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr10:122263423T>A uc001lev.1 + 2 502 c.150T>A c.(148-150)CCT>CCA p.P50P PPAPDC1A_uc010qtd.1_Silent_p.P50P|PPAPDC1A_uc009xzl.1_Silent_p.P50P|PPAPDC1A_uc001lew.1_Silent_p.P50P|PPAPDC1A_uc001lex.1_Silent_p.P50P|PPAPDC1A_uc001ley.1_5'UTR NM_001030059 NP_001025230 Q5VZY2 PPC1A_HUMAN phosphatidic acid phosphatase type 2 domain 50 Helical; (Potential). phospholipid dephosphorylation integral to membrane phosphatidate phosphatase activity breast(1) 1 Lung NSC(174;0.1)|all_lung(145;0.132) all cancers(201;0.0117) ATAACATACCTACCCGCCTCA 0.393 NA 15 46 0 0 0.004007 0 0 DMBT1 1755 broad.mit.edu 37 10 124377590 124377590 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr10:124377590G>T uc001lgk.1 + 38 4668 c.4562G>T c.(4561-4563)CGA>CTA p.R1521L DMBT1_uc001lgl.1_Missense_Mutation_p.R1511L|DMBT1_uc001lgm.1_Missense_Mutation_p.R893L|DMBT1_uc009xzz.1_Missense_Mutation_p.R1521L|DMBT1_uc010qtx.1_Missense_Mutation_p.R372L|DMBT1_uc009yab.1_Missense_Mutation_p.R224L|DMBT1_uc009yac.1_5'Flank NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 isoform b 1521 SRCR 12. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding central_nervous_system(7) 7 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) TGTCGAGGCCGAGTGGAGGTC 0.582 Ovarian(182;93 2026 18125 22222 38972) NA 81 392 1.39159e-27 1.93173e-27 0.01441 1 0 ADAM12 8038 broad.mit.edu 37 10 127782626 127782626 + Missense_Mutation SNP T T A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr10:127782626T>A uc001ljk.2 - 11 1495 c.1082A>T c.(1081-1083)GAC>GTC p.D361V ADAM12_uc010qul.1_Missense_Mutation_p.D312V|ADAM12_uc001ljm.2_Missense_Mutation_p.D361V|ADAM12_uc001ljn.2_Missense_Mutation_p.D358V|ADAM12_uc001ljl.3_Missense_Mutation_p.D358V NM_003474 NP_003465 O43184 ADA12_HUMAN ADAM metallopeptidase domain 12 isoform 1 361 Extracellular (Potential).|Peptidase M12B. cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding breast(4)|ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 9 all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216) GTCCAGTGTGTCATGATTCAT 0.517 NA 14 74 0 0 0.001855 0 0 MKI67 4288 broad.mit.edu 37 10 129903116 129903116 + Nonsense_Mutation SNP T T A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr10:129903116T>A uc001lke.2 - 13 7183 c.6988A>T c.(6988-6990)AAG>TAG p.K2330* MKI67_uc001lkf.2_Nonsense_Mutation_p.K1970*|MKI67_uc009yav.1_Nonsense_Mutation_p.K1905*|MKI67_uc009yaw.1_Nonsense_Mutation_p.K1480* NM_002417 NP_002408 P46013 KI67_HUMAN antigen identified by monoclonal antibody Ki-67 2330 16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding ovary(4)|central_nervous_system(2)|skin(1) 7 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) GTCGTGGGCTTGTCAGTGCCT 0.522 NA 119 308 0 0 0.01441 0 0 Unknown 0 broad.mit.edu 37 10 134648922 134648922 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr10:134648922C>T uc010qux.1 - 39 5808 c.5808G>A c.(5806-5808)ATG>ATA p.M1936I NM_017609 NP_060079 Homo sapiens cDNA, FLJ17989. NA TGGCCAGACGCATCACCTTGC 0.632 NA 17 51 0 0 0.006122 0 0 FRG2B 441581 broad.mit.edu 37 10 135440237 135440237 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr10:135440237C>T uc010qvg.1 - 1 63 c.10G>A c.(10-12)GGA>AGA p.G4R NM_001080998 NP_001074467 Q96QU4 FRG2B_HUMAN FSHD region gene 2 family, member B 4 nucleus 0 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) TCTTCATTTCCCTTTCCCATG 0.522 NA 7 184 0 0 0.00308 0 0 IFITM1 8519 broad.mit.edu 37 11 315104 315104 + Silent SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:315104G>T uc001loy.3 + 2 549 c.369G>T c.(367-369)CGG>CGT p.R123R NM_003641 NP_003632 P13164 IFM1_HUMAN interferon induced transmembrane protein 1 123 Interaction with CAV1.|Extracellular (Potential). negative regulation of cell proliferation|regulation of immune response|response to virus|type I interferon-mediated signaling pathway integral to membrane|plasma membrane protein binding|receptor signaling protein activity 0 all_cancers(49;2e-09)|all_epithelial(84;3.36e-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;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122) AGGAAAAACGGGGTTACTAGT 0.527 NA 19 65 3.8784e-16 5.12415e-16 0.012319 1 0 MUC6 4588 broad.mit.edu 37 11 1025314 1025314 + Silent SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:1025314G>T uc001lsw.2 - 23 2904 c.2853C>A c.(2851-2853)CCC>CCA p.P951P NM_005961 NP_005952 Q6W4X9 MUC6_HUMAN mucin 6, gastric 951 VWFD 3. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent ovary(1) 1 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GCTGCACGTGGGGCTCCTCCC 0.657 NA 31 74 2.2171e-23 3.03415e-23 0.009535 1 0 MUC5B 727897 broad.mit.edu 37 11 1271377 1271377 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:1271377G>A uc009ycr.1 + 51 14812 c.14686G>A c.(14686-14688)GAG>AAG p.E4896K MUC5B_uc001ltb.2_Missense_Mutation_p.E4426K NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 4423 23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GATCCTCACAGAGCTGACCAC 0.647 NA 29 113 0 0 0.010818 0 0 BRSK2 9024 broad.mit.edu 37 11 1475797 1475797 + Silent SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:1475797C>T uc001lti.2 + 16 2013 c.1627C>T c.(1627-1629)CTG>TTG p.L543L BRSK2_uc009ycv.1_Silent_p.L565L|BRSK2_uc001lth.1_Silent_p.L543L|BRSK2_uc001ltj.2_Silent_p.L543L|BRSK2_uc001ltk.2_RNA|BRSK2_uc001ltl.2_Silent_p.L543L|BRSK2_uc001ltm.2_Silent_p.L589L|BRSK2_uc001ltn.2_RNA|BRSK2_uc010qwx.1_RNA|BRSK2_uc009ycw.2_Silent_p.L39L NM_003957 NP_003948 Q8IWQ3 BRSK2_HUMAN BR serine/threonine kinase 2 543 establishment of cell polarity|neuron differentiation ATP binding|magnesium ion binding|protein serine/threonine kinase activity 0 all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842) AGACAAACCTCTGAGCTCCAT 0.622 NA 10 48 0 0 0.010729 0 0 TNNI2 7136 broad.mit.edu 37 11 1862435 1862435 + Nonsense_Mutation SNP A A T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:1862435A>T uc010qxe.1 + 5 473 c.451A>T c.(451-453)AAG>TAG p.K151* TNNI2_uc010qxc.1_Nonsense_Mutation_p.K149*|TNNI2_uc010qxd.1_Nonsense_Mutation_p.K149* NM_001145841 NP_001139313 P48788 TNNI2_HUMAN fast-twitch skeletal muscle troponin I isoform 151 muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction cytosol|nucleus|troponin complex actin binding|troponin T binding 0 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) GGACACAGAGAAGGTGCGTGC 0.667 NA 8 27 0 0 0.006214 0 0 TH 7054 broad.mit.edu 37 11 2191051 2191051 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:2191051C>A uc001lvq.2 - 3 253 c.234G>T c.(232-234)AAG>AAT p.K78N TH_uc001lvp.2_Missense_Mutation_p.K74N|TH_uc001lvr.2_Missense_Mutation_p.K47N|TH_uc010qxj.1_Missense_Mutation_p.K51N|TH_uc001lvs.2_Missense_Mutation_p.K47N|TH_uc001lvt.2_Missense_Mutation_p.K51N|TH_uc009ydh.1_5'Flank NM_199292 NP_954986 P07101 TY3H_HUMAN tyrosine hydroxylase isoform a 78 dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum protein binding|tyrosine 3-monooxygenase activity 0 all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416) Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239) BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154) L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360) CCTCCCGCTCCTTGCGGGCGT 0.721 NA 9 35 7.48243e-07 8.60894e-07 0.006214 1 0 OR51E1 143503 broad.mit.edu 37 11 4674254 4674254 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:4674254C>G uc001lzi.3 + 2 642 c.498C>G c.(496-498)ATC>ATG p.I166M NM_152430 NP_689643 Q8TCB6 O51E1_HUMAN olfactory receptor, family 51, subfamily E, 165 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|pancreas(1) 4 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19) CTGTCTTCATCAAGCAGCTGC 0.552 NA 26 106 0 0 0.005443 0 0 OR51G2 81282 broad.mit.edu 37 11 4936270 4936270 + Silent SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:4936270G>A uc001lzr.1 - 1 624 c.624C>T c.(622-624)ATC>ATT p.I208I NM_001005238 NP_001005238 Q8NGK0 O51G2_HUMAN olfactory receptor, family 51, subfamily G, 208 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) CTGTAGAGACGATGACAAACA 0.512 NA 9 34 0 0 0.004482 0 0 OR51B6 390058 broad.mit.edu 37 11 5373536 5373536 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:5373536C>T uc010qzb.1 + 1 799 c.799C>T c.(799-801)CCT>TCT p.P267S HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001004750 NP_001004750 Q9H340 O51B6_HUMAN olfactory receptor, family 51, subfamily B, 267 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AAAGCATGTTCCTCATGTCGT 0.408 NA 13 46 0 0 0.001855 0 0 OR52L1 338751 broad.mit.edu 37 11 6007293 6007293 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:6007293C>T uc001mcd.2 - 1 923 c.868G>A c.(868-870)GTC>ATC p.V290I NM_001005173 NP_001005173 Q8NGH7 O52L1_HUMAN olfactory receptor, family 52, subfamily L, 290 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|pancreas(1) 2 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGAACATGGACATGATGGGGT 0.502 Melanoma(121;653 1666 10547 22796 51255) NA 5 13 0 0 0.000602 0 0 OR52L1 338751 broad.mit.edu 37 11 6007353 6007353 + Missense_Mutation SNP A A T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:6007353A>T uc001mcd.2 - 1 863 c.808T>A c.(808-810)TAT>AAT p.Y270N NM_001005173 NP_001005173 Q8NGH7 O52L1_HUMAN olfactory receptor, family 52, subfamily L, 270 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|pancreas(1) 2 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCAGGGACATAGAAGACCAGG 0.517 Melanoma(121;653 1666 10547 22796 51255) NA 11 40 0 0 0.008291 0 0 OR56B4 196335 broad.mit.edu 37 11 6129473 6129473 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:6129473G>T uc010qzx.1 + 1 465 c.465G>T c.(463-465)ATG>ATT p.M155I NM_001005181 NP_001005181 Q8NH76 O56B4_HUMAN olfactory receptor, family 56, subfamily B, 155 Helical; Name=4; (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)|Breast(177;0.114) Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGTTCATCATGCTCAGGAATG 0.502 NA 22 64 1.96292e-10 2.40927e-10 0.010504 1 0 FAM160A2 84067 broad.mit.edu 37 11 6238941 6238941 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:6238941C>A uc001mcl.3 - 9 2234 c.1875G>T c.(1873-1875)GAG>GAT p.E625D FAM160A2_uc001mck.3_Missense_Mutation_p.E639D|FAM160A2_uc001mcm.2_Missense_Mutation_p.E625D NM_001098794 NP_001092264 Q8N612 F16A2_HUMAN hypothetical protein LOC84067 isoform 2 625 early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport FHF complex protein binding skin(2) 2 GACCAGGGccctcccctgcac 0.378 NA 6 24 0.00116845 0.00122497 0.001168 1 0 DNHD1 144132 broad.mit.edu 37 11 6588332 6588332 + Missense_Mutation SNP A A T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:6588332A>T uc001mdw.3 + 36 12157 c.11593A>T c.(11593-11595)AGC>TGC p.S3865C DNHD1_uc001mea.3_Missense_Mutation_p.S134C|DNHD1_uc001meb.2_Missense_Mutation_p.S133C|DNHD1_uc001mec.2_Missense_Mutation_p.S133C|DNHD1_uc010rao.1_Missense_Mutation_p.S123C|DNHD1_uc009yfg.2_5'Flank NM_144666 NP_653267 Q96M86 DNHD1_HUMAN dynein heavy chain domain 1 isoform 1 3865 microtubule-based movement dynein complex microtubule motor activity ovary(2) 2 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171) Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) AAAGGCCCTAAGCCAACTGCA 0.507 NA 16 77 0 0 0.003163 0 0 OR10A4 283297 broad.mit.edu 37 11 6897968 6897968 + Silent SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:6897968C>T uc010rat.1 + 1 90 c.90C>T c.(88-90)CTC>CTT p.L30L NM_207186 NP_997069 Q9H209 O10A4_HUMAN olfactory receptor, family 10, subfamily A, 30 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) TACTGTTTCTCCTTTTCTTGA 0.443 NA 20 105 0 0 0.007413 0 0 HPS5 11234 broad.mit.edu 37 11 18313334 18313334 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:18313334C>T uc001mod.1 - 16 2373 c.2095G>A c.(2095-2097)GAA>AAA p.E699K HPS5_uc001moe.1_Missense_Mutation_p.E585K|HPS5_uc001mof.1_Missense_Mutation_p.E585K NM_181507 NP_852608 Q9UPZ3 HPS5_HUMAN Hermansky-Pudlak syndrome 5 isoform a 699 cytosol ovary(1)|pancreas(1)|skin(1) 3 ACAGATTCTTCATTGCCTAAA 0.363 NA Hermansky-Pudlak_syndrome 17 43 0 0 0.004007 0 0 HPS5 11234 broad.mit.edu 37 11 18316688 18316688 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:18316688C>T uc001mod.1 - 14 1941 c.1663G>A c.(1663-1665)GAG>AAG p.E555K HPS5_uc001moe.1_Missense_Mutation_p.E441K|HPS5_uc001mof.1_Missense_Mutation_p.E441K NM_181507 NP_852608 Q9UPZ3 HPS5_HUMAN Hermansky-Pudlak syndrome 5 isoform a 555 cytosol ovary(1)|pancreas(1)|skin(1) 3 CCAATCTTCTCAGTAGTTTTA 0.398 NA Hermansky-Pudlak_syndrome 10 38 0 0 0.006214 0 0 HPS5 11234 broad.mit.edu 37 11 18327041 18327041 + Splice_Site SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:18327041C>T uc001mod.1 - 8 1103 c.825_splice c.e8-1 p.R275_splice HPS5_uc001moe.1_Splice_Site_p.R161_splice|HPS5_uc001mof.1_Splice_Site_p.R161_splice NM_181507 NP_852608 Q9UPZ3 HPS5_HUMAN Hermansky-Pudlak syndrome 5 isoform a cytosol ovary(1)|pancreas(1)|skin(1) 3 AGGTTCTGATCTAGAAAGTAA 0.343 NA Hermansky-Pudlak_syndrome 4 25 0 0 0.009096 0 0 ANO5 203859 broad.mit.edu 37 11 22248914 22248914 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:22248914G>T uc001mqi.2 + 7 747 c.430G>T c.(430-432)GCT>TCT p.A144S ANO5_uc001mqj.2_Missense_Mutation_p.A143S NM_213599 NP_998764 Q75V66 ANO5_HUMAN anoctamin 5 isoform a 144 Cytoplasmic (Potential). chloride channel complex|endoplasmic reticulum membrane chloride channel activity central_nervous_system(3)|ovary(1) 4 AGTTACCTATGCTGAAGTCTT 0.433 NA 14 38 8.60227e-14 1.11224e-13 0.004007 1 0 Unknown 0 broad.mit.edu 37 11 31115602 31115602 + Missense_Mutation SNP T T A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:31115602T>A uc009yjk.1 - 4 526 c.457A>T c.(457-459)ACC>TCC p.T153S uc009yjl.1_Missense_Mutation_p.T81S|DCDC1_uc001msu.1_Missense_Mutation_p.T324S RecName: Full=Doublecortin domain-containing protein 5; NA GGTACCTTGGTGATCAGCCAC 0.537 NA 12 72 0 0 0.001855 0 0 C11orf41 25758 broad.mit.edu 37 11 33565707 33565707 + Missense_Mutation SNP T T A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:33565707T>A uc001mup.3 + 1 1831 c.1707T>A c.(1705-1707)GAT>GAA p.D569E C11orf41_uc001mun.1_Missense_Mutation_p.D569E NM_012194 NP_036326 Q6ZVL6 CK041_HUMAN hypothetical protein LOC25758 569 integral to membrane ovary(2) 2 ATGGAACAGATACAGGTTCTG 0.453 NA 14 69 0 0 0.001855 0 0 PDHX 8050 broad.mit.edu 37 11 34969155 34969155 + Splice_Site SNP T T C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:34969155T>C uc001mvt.2 + 3 868 c.342_splice c.e3+2 p.V114_splice PDHX_uc010rep.1_Splice_Site_p.V99_splice|PDHX_uc010req.1_Splice_Site_p.V114_splice NM_003477 NP_003468 O00330 ODPX_HUMAN pyruvate dehydrogenase complex, component X pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix acyltransferase activity kidney(1) 1 all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242) all_hematologic(20;0.124) STAD - Stomach adenocarcinoma(6;0.00113) AAAATCGTGGTAAGTTTTTAT 0.348 NA 3 64 0 0 0.004672 0 0 RAG2 5897 broad.mit.edu 37 11 36614834 36614834 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:36614834G>T uc001mwv.3 - 2 1073 c.885C>A c.(883-885)AAC>AAA p.N295K C11orf74_uc010rfd.1_5'Flank|C11orf74_uc001mww.1_5'Flank|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank NM_000536 NP_000527 P55895 RAG2_HUMAN recombination activating gene 2 295 chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination nucleus chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding skin(3)|ovary(1)|pancreas(1) 5 all_lung(20;0.226) all_hematologic(20;0.00756) TTTCTATCTTGTTGTCCTCTA 0.388 NA Familial_Hemophagocytic_Lymphohistiocytosis 45 139 3.76604e-16 4.98022e-16 0.010771 1 0 MYBPC3 4607 broad.mit.edu 37 11 47367838 47367838 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:47367838G>C uc001nfa.3 - 12 1065 c.1010C>G c.(1009-1011)GCC>GGC p.A337G NM_000256 NP_000247 Q14896 MYPC3_HUMAN myosin binding protein C, cardiac 337 cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis C zone|cytosol|striated muscle myosin thick filament actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding ovary(2)|central_nervous_system(1) 3 Lung(87;0.176) GTACTGGAAGGCGATGCGCTC 0.612 NA 12 18 0 0 0.010729 0 0 OR4S2 219431 broad.mit.edu 37 11 55418972 55418972 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:55418972C>A uc001nhs.1 + 1 593 c.593C>A c.(592-594)ACA>AAA p.T198K NM_001004059 NP_001004059 Q8NH73 OR4S2_HUMAN olfactory receptor, family 4, subfamily S, 198 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_epithelial(135;0.0748) GTTGTTGTGACAGCCAACAGT 0.453 NA 28 90 2.44723e-14 3.18118e-14 0.004656 1 0 OR5W2 390148 broad.mit.edu 37 11 55681456 55681456 + Silent SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:55681456G>A uc010rir.1 - 1 603 c.603C>T c.(601-603)ACC>ACT p.T201T NM_001001960 NP_001001960 Q8NH69 OR5W2_HUMAN olfactory receptor, family 5, subfamily W, 201 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 AACCAAAGACGGTGAATAACA 0.388 Melanoma(48;171 1190 15239 43886 49348) NA 7 19 0 0 0.004482 0 0 OR5M11 219487 broad.mit.edu 37 11 56310672 56310672 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:56310672G>A uc010rjl.1 - 1 62 c.62C>T c.(61-63)CCG>CTG p.P21L NM_001005245 NP_001005245 Q96RB7 OR5MB_HUMAN olfactory receptor, family 5, subfamily M, 21 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CTGGAGTTCCGGGCAATCTGT 0.458 NA 10 42 0 0 0.008291 0 0 OR5M1 390168 broad.mit.edu 37 11 56380893 56380893 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:56380893C>A uc001nja.1 - 1 86 c.86G>T c.(85-87)GGG>GTG p.G29V NM_001004740 NP_001004740 Q8NGP8 OR5M1_HUMAN olfactory receptor, family 5, subfamily M, 29 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 AAGGAATACCCCAAACAGGAT 0.473 NA 10 32 1.58986e-06 1.81627e-06 0.008291 1 0 LRRC55 219527 broad.mit.edu 37 11 56949837 56949837 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:56949837G>C uc001njl.1 + 1 617 c.470G>C c.(469-471)CGC>CCC p.R157P NM_001005210 NP_001005210 Q6ZSA7 LRC55_HUMAN leucine rich repeat containing 55 127 LRR 3. integral to membrane 0 CATGCCAAGCGCTTGGCACAC 0.577 NA 10 27 0 0 0.006214 0 0 CTNND1 1500 broad.mit.edu 37 11 57572182 57572182 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:57572182G>A uc001nmc.3 + 9 2223 c.1652G>A c.(1651-1653)TGT>TAT p.C551Y CTNND1_uc001nlh.1_Missense_Mutation_p.C551Y|CTNND1_uc001nlu.3_Missense_Mutation_p.C450Y|CTNND1_uc001nlt.3_Missense_Mutation_p.C450Y|CTNND1_uc001nls.3_Missense_Mutation_p.C450Y|CTNND1_uc001nlw.3_Missense_Mutation_p.C450Y|CTNND1_uc001nmf.3_Missense_Mutation_p.C551Y|CTNND1_uc001nmd.3_Missense_Mutation_p.C497Y|CTNND1_uc001nlk.3_Missense_Mutation_p.C497Y|CTNND1_uc001nme.3_Missense_Mutation_p.C551Y|CTNND1_uc001nll.3_Missense_Mutation_p.C497Y|CTNND1_uc001nmg.3_Missense_Mutation_p.C497Y|CTNND1_uc001nlj.3_Missense_Mutation_p.C497Y|CTNND1_uc001nlr.3_Missense_Mutation_p.C497Y|CTNND1_uc001nlp.3_Missense_Mutation_p.C497Y|CTNND1_uc001nlx.3_Missense_Mutation_p.C228Y|CTNND1_uc001nlz.3_Missense_Mutation_p.C228Y|CTNND1_uc009ymn.2_Missense_Mutation_p.C228Y|CTNND1_uc001nlm.3_Missense_Mutation_p.C551Y|CTNND1_uc001nly.3_Missense_Mutation_p.C228Y|CTNND1_uc001nmb.3_Missense_Mutation_p.C228Y|CTNND1_uc001nma.3_Missense_Mutation_p.C228Y|CTNND1_uc001nmi.3_Missense_Mutation_p.C450Y|CTNND1_uc001nmh.3_Missense_Mutation_p.C551Y|CTNND1_uc001nlq.3_Missense_Mutation_p.C450Y|CTNND1_uc001nln.3_Missense_Mutation_p.C551Y|CTNND1_uc001nli.3_Missense_Mutation_p.C551Y|CTNND1_uc001nlo.3_Missense_Mutation_p.C450Y|CTNND1_uc001nlv.3_Missense_Mutation_p.C450Y NM_001085458 NP_001078927 O60716 CTND1_HUMAN catenin, delta 1 isoform 1ABC 551 ARM 5. adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway cytosol|midbody|nucleus cadherin binding|protein binding|receptor binding breast(4)|ovary(1)|kidney(1) 6 all_epithelial(135;0.155) CTTCGGGAATGTGATGGTTTA 0.463 NA 6 22 0 0 0.001984 0 0 OR10Q1 219960 broad.mit.edu 37 11 57995949 57995949 + Silent SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:57995949C>T uc010rkd.1 - 1 399 c.399G>A c.(397-399)CCG>CCA p.P133P NM_001004471 NP_001004471 Q8NGQ4 O10Q1_HUMAN olfactory receptor, family 10, subfamily Q, 133 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Breast(21;0.0589) TGTAGTGCAGCGGGTGGCAGA 0.612 NA 13 24 0 0 0.013537 0 0 OR5B21 219968 broad.mit.edu 37 11 58275103 58275103 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:58275103G>T uc010rki.1 - 1 476 c.476C>A c.(475-477)GCA>GAA p.A159E NM_001005218 NP_001005218 A6NL26 OR5BL_HUMAN olfactory receptor, family 5, subfamily B, 159 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3) 3 Esophageal squamous(5;0.0027) Breast(21;0.0778) GAAGGTGCCTGCTGCATGGAT 0.507 NA 12 34 2.27111e-07 2.64023e-07 0.013537 1 0 OR5B21 219968 broad.mit.edu 37 11 58275540 58275540 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:58275540C>G uc010rki.1 - 1 39 c.39G>C c.(37-39)TTG>TTC p.L13F NM_001005218 NP_001005218 A6NL26 OR5BL_HUMAN olfactory receptor, family 5, subfamily B, 13 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3) 3 Esophageal squamous(5;0.0027) Breast(21;0.0778) CTGTTAATCCCAAGAGGATAA 0.443 NA 12 34 0 0 0.013537 0 0 GLYAT 10249 broad.mit.edu 37 11 58477469 58477469 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:58477469G>C uc001nnb.2 - 6 816 c.661C>G c.(661-663)CTA>GTA p.L221V NM_201648 NP_964011 Q6IB77 GLYAT_HUMAN glycine-N-acyltransferase isoform a 221 acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process mitochondrial matrix glycine N-acyltransferase activity|glycine N-benzoyltransferase activity 0 Breast(21;0.0044)|all_epithelial(135;0.0157) Glycine(DB00145) TGGTCCATTAGATCCCAGCAC 0.552 NA 21 53 0 0 0.014323 0 0 GLYAT 10249 broad.mit.edu 37 11 58491902 58491902 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:58491902G>T uc001nnb.2 - 2 223 c.68C>A c.(67-69)CCA>CAA p.P23Q GLYAT_uc001nnc.2_Missense_Mutation_p.P23Q NM_201648 NP_964011 Q6IB77 GLYAT_HUMAN glycine-N-acyltransferase isoform a 23 acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process mitochondrial matrix glycine N-acyltransferase activity|glycine N-benzoyltransferase activity 0 Breast(21;0.0044)|all_epithelial(135;0.0157) Glycine(DB00145) TAAGGATGCTGGGAGGCTCTT 0.418 NA 8 36 5.18039e-06 5.81293e-06 0.00308 1 0 ZP1 22917 broad.mit.edu 37 11 60636693 60636693 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:60636693C>T uc001nqd.2 + 2 292 c.272C>T c.(271-273)CCT>CTT p.P91L ZP1_uc001nqe.2_5'Flank NM_207341 NP_997224 P60852 ZP1_HUMAN zona pellucida glycoprotein 1 precursor 91 Extracellular (Potential). single fertilization integral to membrane|plasma membrane|proteinaceous extracellular matrix 0 CCGCAGGAGCCTGCAGTCTTC 0.577 NA 16 30 0 0 0.006122 0 0 TMEM132A 54972 broad.mit.edu 37 11 60699590 60699590 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:60699590G>T uc001nqj.2 + 7 1540 c.1347G>T c.(1345-1347)CAG>CAT p.Q449H TMEM132A_uc001nqi.2_Missense_Mutation_p.Q450H|TMEM132A_uc001nqk.2_Missense_Mutation_p.Q462H|TMEM132A_uc001nql.1_3'UTR|TMEM132A_uc001nqm.2_5'Flank NM_178031 NP_821174 Q24JP5 T132A_HUMAN transmembrane protein 132A isoform b 449 Extracellular (Potential). endoplasmic reticulum membrane|Golgi membrane|integral to membrane skin(1) 1 CCAACACACAGGTCCTGCAGG 0.622 NA 30 54 7.01153e-11 8.67924e-11 0.007291 1 0 CD5 921 broad.mit.edu 37 11 60889133 60889133 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:60889133G>A uc009ynk.2 + 6 959 c.856G>A c.(856-858)GAA>AAA p.E286K NM_014207 NP_055022 P06127 CD5_HUMAN CD5 molecule precursor 286 Extracellular (Potential).|SRCR 3. cell proliferation|cell recognition integral to plasma membrane scavenger receptor activity ovary(1) 1 all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05) BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528) CAGCATCTGTGAAGGCACCGT 0.647 NA 36 61 0 0 0.004289 0 0 DAK 26007 broad.mit.edu 37 11 61106638 61106638 + Silent SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:61106638G>A uc001nre.2 + 4 551 c.294G>A c.(292-294)CAG>CAA p.Q98Q DDB1_uc010rlf.1_Intron|DAK_uc009ynm.1_Silent_p.Q28Q NM_015533 NP_056348 Q3LXA3 DHAK_HUMAN dihydroxyacetone kinase 2 98 DhaK. glycerol metabolic process cytosol ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding 0 CCGTGGCCCAGGCCGGCACAG 0.672 NA 36 53 0 0 0.004289 0 0 DAGLA 747 broad.mit.edu 37 11 61493493 61493493 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:61493493C>G uc001nsa.2 + 6 686 c.575C>G c.(574-576)ACC>AGC p.T192S NM_006133 NP_006124 Q9Y4D2 DGLA_HUMAN neural stem cell-derived dendrite regulator 192 Cytoplasmic (Potential). cell death|lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity ovary(2)|central_nervous_system(1) 3 READ - Rectum adenocarcinoma(4;0.219) GGTCAAGCCACCAGCTGGTCG 0.607 NA 6 159 0 0 0.00308 0 0 AHNAK 79026 broad.mit.edu 37 11 62294197 62294197 + Silent SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:62294197C>A uc001ntl.2 - 5 7992 c.7692G>T c.(7690-7692)GGG>GGT p.G2564G AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 2564 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) TTAACTTAGGCCCTTTCAACT 0.483 NA 53 99 4.25531e-23 5.81253e-23 0.01441 1 0 INTS5 80789 broad.mit.edu 37 11 62416029 62416029 + Missense_Mutation SNP A A G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:62416029A>G uc001nud.2 - 2 1576 c.1523T>C c.(1522-1524)GTC>GCC p.V508A GANAB_uc001nua.2_5'Flank|GANAB_uc001nub.2_5'Flank|GANAB_uc001nuc.2_5'Flank|GANAB_uc010rma.1_5'Flank|GANAB_uc010rmb.1_5'Flank NM_030628 NP_085131 Q6P9B9 INT5_HUMAN integrator complex subunit 5 508 snRNA processing integral to membrane|integrator complex protein binding ovary(2) 2 CCGGGTATAGACAGACAGCAG 0.577 NA 28 150 0 0 0.007291 0 0 ZBTB3 79842 broad.mit.edu 37 11 62519745 62519745 + Silent SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:62519745G>A uc001nuz.2 - 2 1664 c.1542C>T c.(1540-1542)GAC>GAT p.D514D NM_024784 NP_079060 Q9H5J0 ZBTB3_HUMAN zinc finger and BTB domain containing 3 514 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|ovary(1) 3 GGCGGTAGAGGTCCCCTGACT 0.602 NA 34 58 0 0 0.003271 0 0 SLC3A2 6520 broad.mit.edu 37 11 62655685 62655685 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:62655685G>C uc001nwd.2 + 11 1749 c.1525G>C c.(1525-1527)GTG>CTG p.V509L SLC3A2_uc001nwb.2_Missense_Mutation_p.V540L|SLC3A2_uc001nwc.2_Missense_Mutation_p.V510L|SLC3A2_uc001nwe.2_Missense_Mutation_p.V478L|SLC3A2_uc001nwf.2_Missense_Mutation_p.V447L|SLC3A2_uc001nwg.2_Missense_Mutation_p.V408L NM_002394 NP_002385 P08195 4F2_HUMAN solute carrier family 3, member 2 isoform c 509 Extracellular (Potential). blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport apical plasma membrane|cell surface|integral to membrane|melanosome calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding 0 CAACATGACTGTGAAGGTAAG 0.537 NA 35 63 0 0 0.012213 0 0 SLC22A6 9356 broad.mit.edu 37 11 62751918 62751918 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:62751918G>T uc001nwk.2 - 1 552 c.245C>A c.(244-246)ACC>AAC p.T82N SLC22A6_uc001nwl.2_Missense_Mutation_p.T82N|SLC22A6_uc001nwj.2_Missense_Mutation_p.T82N|SLC22A6_uc001nwm.2_Missense_Mutation_p.T82N NM_004790 NP_004781 Q4U2R8 S22A6_HUMAN solute carrier family 22 member 6 isoform a 82 Extracellular (Potential). alpha-ketoglutarate transport basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|protein binding 0 CTGCGGGGAGGTGAAGCGGAG 0.662 NA 28 95 7.41945e-09 8.93287e-09 0.005443 1 0 HRASLS5 117245 broad.mit.edu 37 11 63235916 63235916 + Nonsense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:63235916C>A uc001nwy.2 - 4 571 c.397G>T c.(397-399)GGA>TGA p.G133* HRASLS5_uc001nwz.2_Nonsense_Mutation_p.G123*|HRASLS5_uc010rmq.1_Nonsense_Mutation_p.G133*|HRASLS5_uc009yos.2_Intron NM_054108 NP_473449 Q96KN8 HRSL5_HUMAN HRAS-like suppressor family, member 5 isoform 1 133 ovary(1) 1 ATCAGGTCTCCAGGTCTGGGT 0.443 NA 21 47 1.87028e-06 2.13327e-06 0.012319 1 0 TRPT1 83707 broad.mit.edu 37 11 63991664 63991664 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:63991664C>G uc001nyo.2 - 7 792 c.578G>C c.(577-579)CGC>CCC p.R193P TRPT1_uc010rnc.1_Missense_Mutation_p.R194P|TRPT1_uc010rnd.1_Missense_Mutation_p.R195P|TRPT1_uc001nyn.2_Missense_Mutation_p.R144P|TRPT1_uc010rne.1_Intron|TRPT1_uc010rnf.1_Missense_Mutation_p.R193P|NUDT22_uc009ypd.2_5'Flank|NUDT22_uc001nyp.3_5'Flank|NUDT22_uc009ype.2_5'Flank|NUDT22_uc001nyq.3_5'Flank NM_001033678 NP_001028850 Q86TN4 TRPT1_HUMAN tRNA phosphotransferase 1 isoform 1 193 tRNA 2'-phosphotransferase activity 0 ATTGGCAGAGCGGAAGAAGGG 0.567 NA 16 75 0 0 0.004007 0 0 CCDC88B 283234 broad.mit.edu 37 11 64120219 64120219 + Silent SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:64120219C>T uc001nzy.2 + 20 3404 c.3360C>T c.(3358-3360)CAC>CAT p.H1120H CCDC88B_uc009ypo.1_Silent_p.H1117H|CCDC88B_uc001oaa.2_Silent_p.H272H|CCDC88B_uc001oab.1_5'Flank|CCDC88B_uc001oac.2_5'Flank NM_032251 NP_115627 A6NC98 CC88B_HUMAN coiled-coil domain containing 88 1120 Potential. microtubule cytoskeleton organization cytoplasm microtubule binding ovary(3)|skin(1) 4 ATCCCAGGCACGAGCAGCTGC 0.677 NA 6 47 0 0 0.001168 0 0 NRXN2 9379 broad.mit.edu 37 11 64374937 64374937 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:64374937C>A uc001oap.2 - 8 2243 c.1732G>T c.(1732-1734)GGC>TGC p.G578C NRXN2_uc001oar.2_Missense_Mutation_p.G1624C|NRXN2_uc001oas.2_Missense_Mutation_p.G1554C|NRXN2_uc001oao.2_Missense_Mutation_p.G264C|NRXN2_uc001oaq.2_Missense_Mutation_p.G1291C NM_138734 NP_620063 P58401 NRX2B_HUMAN neurexin 2 isoform beta precursor 578 Extracellular (Potential). cell adhesion integral to membrane upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1) 10 TCCACTGCGCCCGGCGGGCCC 0.736 NA 11 22 1.08611e-07 1.27695e-07 0.010729 1 0 PYGM 5837 broad.mit.edu 37 11 64518939 64518939 + Splice_Site SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:64518939C>A uc001oax.3 - 16 2645 c.1828_splice c.e16-1 p.A610_splice PYGM_uc001oay.3_Splice_Site_p.A522_splice NM_005609 NP_005600 P11217 PYGM_HUMAN muscle glycogen phosphorylase isoform 1 glucose metabolic process|glycogen catabolic process cytosol glycogen phosphorylase activity|protein binding ovary(2) 2 Pyridoxal Phosphate(DB00114) CAGGTGCAGCCTGAGGGGACA 0.602 NA 44 97 5.48756e-27 7.57409e-27 0.011902 1 0 NAALADL1 10004 broad.mit.edu 37 11 64815843 64815843 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:64815843G>A uc001ocn.2 - 9 1229 c.1213C>T c.(1213-1215)CGC>TGC p.R405C NAALADL1_uc010rnw.1_5'UTR|NAALADL1_uc009ypz.2_RNA NM_005468 NP_005459 Q9UQQ1 NALDL_HUMAN N-acetylated alpha-linked acidic 405 NAALADase.|Extracellular (Potential). proteolysis apical plasma membrane|integral to membrane carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity 0 ATTGATCTGCGAGGACGCCAG 0.597 NA 16 52 0 0 0.004007 0 0 SIPA1 6494 broad.mit.edu 37 11 65417286 65417286 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:65417286G>T uc001ofb.2 + 12 2863 c.2696G>T c.(2695-2697)AGG>ATG p.R899M SIPA1_uc010rom.1_Missense_Mutation_p.R797M|SIPA1_uc001ofd.2_Missense_Mutation_p.R899M NM_006747 NP_006738 Q96FS4 SIPA1_HUMAN signal-induced proliferation-associated protein 899 cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth cytosol|endomembrane system|membrane|perinuclear region of cytoplasm Rap GTPase activator activity 0 CCGGAGCTGAGGGCCTCCTTT 0.627 NA 30 54 5.77227e-19 7.76769e-19 0.008361 1 0 CATSPER1 117144 broad.mit.edu 37 11 65793536 65793536 + Silent SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:65793536G>C uc001ogt.2 - 1 453 c.315C>G c.(313-315)GTC>GTG p.V105V NM_053054 NP_444282 Q8NEC5 CTSR1_HUMAN sperm-associated cation channel 1 105 His-rich.|Cytoplasmic (Potential). cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane protein binding ovary(2) 2 GGTGGGAGGGGACGGCGCCTT 0.607 NA 44 112 0 0 0.01441 0 0 SF3B2 10992 broad.mit.edu 37 11 65827291 65827291 + Silent SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:65827291G>C uc001ogy.1 + 13 1480 c.1440G>C c.(1438-1440)GTG>GTC p.V480V NM_006842 NP_006833 Q13435 SF3B2_HUMAN splicing factor 3B subunit 2 480 interspecies interaction between organisms catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex nucleic acid binding|protein binding ovary(2)|breast(1) 3 TGCACGATGTGACAGCGCAGG 0.557 NA 3 109 0 0 0.004672 0 0 RIN1 9610 broad.mit.edu 37 11 66102012 66102012 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:66102012C>T uc001ohn.1 - 6 1385 c.1258G>A c.(1258-1260)GAG>AAG p.E420K RIN1_uc010roy.1_Missense_Mutation_p.E113K|RIN1_uc009yrd.1_Missense_Mutation_p.E113K|RIN1_uc010roz.1_Missense_Mutation_p.E315K|RIN1_uc010rpa.1_Missense_Mutation_p.E315K NM_004292 NP_004283 Q13671 RIN1_HUMAN ras inhibitor RIN1 420 Ras and 14-3-3 protein binding region. endocytosis|signal transduction cytoplasm|cytoskeleton|plasma membrane GTPase activator activity|protein binding lung(2)|breast(1) 3 AGCAGCTTCTCAGGGCCCAGC 0.701 NA 5 6 0 0 0.000602 0 0 CCDC87 55231 broad.mit.edu 37 11 66357977 66357977 + Missense_Mutation SNP T T A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:66357977T>A uc001oiq.3 - 1 2578 c.2510A>T c.(2509-2511)CAC>CTC p.H837L CCS_uc001oir.2_5'Flank NM_018219 NP_060689 Q9NVE4 CCD87_HUMAN coiled-coil domain containing 87 837 ovary(1)|skin(1) 2 GGTTGACTGGTGGGGATCCTT 0.577 NA 104 205 0 0 0.01441 0 0 CLCF1 23529 broad.mit.edu 37 11 67132763 67132763 + Silent SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:67132763G>T uc001okq.2 - 3 718 c.522C>A c.(520-522)GCC>GCA p.A174A LOC100130987_uc010rpo.1_Intron|CLCF1_uc010rpp.1_Silent_p.A164A NM_013246 NP_037378 Q9UBD9 CLCF1_HUMAN cardiotrophin-like cytokine factor 1 precursor 174 B cell differentiation|cytokine-mediated signaling pathway|JAK-STAT cascade|negative regulation of neuron apoptosis|positive regulation of astrocyte differentiation|positive regulation of B cell proliferation|positive regulation of immunoglobulin production|positive regulation of isotype switching to IgE isotypes|positive regulation of tyrosine phosphorylation of Stat3 protein extracellular space ciliary neurotrophic factor receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity 0 BRCA - Breast invasive adenocarcinoma(15;2.39e-06) AGTCACTGTGGGCAGGGCCAG 0.637 NA 10 56 3.07112e-06 3.46216e-06 0.010729 1 0 NDUFS8 4728 broad.mit.edu 37 11 67800450 67800450 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:67800450G>T uc001onc.2 + 4 277 c.170G>T c.(169-171)CGC>CTC p.R57L NDUFS8_uc010rpz.1_Missense_Mutation_p.R57L|NDUFS8_uc009ysb.1_Intron|NDUFS8_uc009ysc.1_Missense_Mutation_p.R57L NM_002496 NP_002487 O00217 NDUS8_HUMAN NADH dehydrogenase ubiquinone Fe-S 8 precursor 57 mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|response to oxidative stress|transport mitochondrial respiratory chain complex I 4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity skin(1) 1 NADH(DB00157) CGGGCAGCCCGCACCCTGCTG 0.652 Colon(116;1205 2770 20054) NA 44 62 1.61863e-15 2.12308e-15 0.01441 1 0 CCND1 595 broad.mit.edu 37 11 69456155 69456155 + Missense_Mutation SNP A A C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:69456155A>C uc001opa.2 + 1 283 c.74A>C c.(73-75)GAC>GCC p.D25A NM_053056 NP_444284 P24385 CCND1_HUMAN cyclin D1 25 cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm protein kinase binding ovary(1)|lung(1) 2 all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348) Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537) Arsenic trioxide(DB01169) CTCCTCAACGACCGGGTGCTG 0.647 Pancreas(65;393 884 2788 21700 24360 27795 36895) NA T IGH@|FSTL3 CLL|B-ALL|breast Multiple Myeloma(6;0.086) 33 120 0 0 0.012213 0 0 FOLR3 2352 broad.mit.edu 37 11 71850011 71850011 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:71850011G>C uc001ory.1 + 3 351 c.301G>C c.(301-303)GTC>CTC p.V101L FOLR3_uc001orx.1_Missense_Mutation_p.S58T P41439 FOLR3_HUMAN SubName: Full=FOLR3 protein; Flags: Fragment; Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment folic acid transport extracellular region|extrinsic to membrane|membrane fraction folic acid binding|receptor activity 0 Folic Acid(DB00158) ACCCAGTGCAGTCCCTGGAAG 0.572 NA 4 29 0 0 0.009096 0 0 INPPL1 3636 broad.mit.edu 37 11 71940249 71940249 + Missense_Mutation SNP G G T rs17847214 byFrequency TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:71940249G>T uc001osf.2 + 5 781 c.634G>T c.(634-636)GCT>TCT p.A212S INPPL1_uc001osg.2_5'UTR NM_001567 NP_001558 O15357 SHIP2_HUMAN inositol polyphosphate phosphatase-like 1 212 actin filament organization|cell adhesion|endocytosis actin cortical patch|cytosol actin binding|SH2 domain binding|SH3 domain binding skin(2)|ovary(1)|breast(1) 4 CCGTACCCTCGCTACCTCATG 0.622 NA 5 36 3.59834e-05 3.94026e-05 0.001168 1 0 WNT11 7481 broad.mit.edu 37 11 75902715 75902715 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:75902715C>A uc001oxe.2 - 4 906 c.783G>T c.(781-783)AAG>AAT p.K261N WNT11_uc001oxf.1_Missense_Mutation_p.K261N NM_004626 NP_004617 O96014 WNT11_HUMAN wingless-type MMTV integration site family, 261 adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of transcription, DNA-dependent|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|protein kinase activator activity|Ras GTPase activator activity|transcription regulatory region DNA binding lung(1)|skin(1) 2 TATCCAGGTCCTTGGGCACCA 0.597 NA 33 138 4.4194e-11 5.5176e-11 0.013726 1 0 LRRC32 2615 broad.mit.edu 37 11 76372111 76372111 + Nonsense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:76372111C>A uc001oxq.3 - 3 769 c.526G>T c.(526-528)GAG>TAG p.E176* LRRC32_uc001oxr.3_Nonsense_Mutation_p.E176*|LRRC32_uc010rsf.1_Nonsense_Mutation_p.E176* NM_005512 NP_005503 Q14392 LRC32_HUMAN leucine rich repeat containing 32 precursor 176 Extracellular (Potential).|LRR 6. integral to plasma membrane 0 TCAAGCTGCTCCAGCGCAGGC 0.637 NA 15 65 1.00905e-13 1.30003e-13 0.008871 1 0 ODZ4 26011 broad.mit.edu 37 11 78412823 78412823 + Missense_Mutation SNP T T C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:78412823T>C uc001ozl.3 - 28 5298 c.4835A>G c.(4834-4836)TAC>TGC p.Y1612C ODZ4_uc009yvb.1_Missense_Mutation_p.Y196C NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN odz, odd Oz/ten-m homolog 4 1612 Extracellular (Potential).|YD 2. signal transduction integral to membrane ovary(2)|pancreas(2) 4 GTCCCCAGTGTAGGTGAAGTT 0.537 NA 30 115 0 0 0.008361 0 0 C11orf82 220042 broad.mit.edu 37 11 82643578 82643578 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:82643578G>C uc001ozt.2 + 6 1442 c.1198G>C c.(1198-1200)GAG>CAG p.E400Q C11orf82_uc010rsr.1_Missense_Mutation_p.E99Q|C11orf82_uc010rss.1_Missense_Mutation_p.E99Q|C11orf82_uc009yvd.2_Intron NM_145018 NP_659455 Q8IXT1 NOXIN_HUMAN nitric oxide-inducible gene protein 400 apoptosis|cell cycle arrest cytoplasm|nucleus ovary(2) 2 CAGACTTGAAGAGACAGCCAG 0.463 NA 28 126 0 0 0.00632 0 0 NOX4 50507 broad.mit.edu 37 11 89184980 89184980 + Silent SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:89184980G>A uc001pct.2 - 3 476 c.237C>T c.(235-237)CTC>CTT p.L79L NOX4_uc009yvr.2_Silent_p.L54L|NOX4_uc001pcu.2_Silent_p.L5L|NOX4_uc001pcw.2_Intron|NOX4_uc001pcx.2_Intron|NOX4_uc001pcv.2_Silent_p.L79L|NOX4_uc009yvo.2_RNA|NOX4_uc010rtu.1_Intron|NOX4_uc009yvp.2_Silent_p.L79L|NOX4_uc010rtv.1_Silent_p.L55L|NOX4_uc009yvq.2_Silent_p.L55L|NOX4_uc009yvs.1_RNA NM_016931 NP_058627 Q9NPH5 NOX4_HUMAN NADPH oxidase 4 isoform a 79 Ferric oxidoreductase.|Helical; (Potential). cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity ovary(1)|central_nervous_system(1) 2 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011) GGTAAGCCAAGAGTGTTCGGC 0.413 NA 6 44 0 0 0.001984 0 0 FAT3 120114 broad.mit.edu 37 11 92532943 92532943 + Missense_Mutation SNP A A G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:92532943A>G uc001pdj.3 + 9 6781 c.6764A>G c.(6763-6765)AAG>AGG p.K2255R NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 2255 Cadherin 20.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TCTGCTTACAAGCTGACAATA 0.428 NA TCGA Ovarian(4;0.039) 5 19 0 0 0.000602 0 0 MTNR1B 4544 broad.mit.edu 37 11 92714702 92714702 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:92714702G>C uc001pdk.1 + 2 416 c.313G>C c.(313-315)GGC>CGC p.G105R NM_005959 NP_005950 P49286 MTR1B_HUMAN melatonin receptor 1B 105 Extracellular (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission integral to plasma membrane melatonin receptor activity ovary(1)|central_nervous_system(1) 2 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) Ramelteon(DB00980) CTTCTATGACGGCTGGGCCCT 0.572 NA 72 176 0 0 0.01441 0 0 MTNR1B 4544 broad.mit.edu 37 11 92715222 92715222 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:92715222C>A uc001pdk.1 + 2 936 c.833C>A c.(832-834)CCC>CAC p.P278H NM_005959 NP_005950 P49286 MTR1B_HUMAN melatonin receptor 1B 278 Extracellular (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission integral to plasma membrane melatonin receptor activity ovary(1)|central_nervous_system(1) 2 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) Ramelteon(DB00980) GCCATCAACCCCCAAGAAATG 0.512 NA 62 157 9.10829e-22 1.23948e-21 0.01441 1 0 TRPC6 7225 broad.mit.edu 37 11 101375108 101375108 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:101375108G>T uc001pgk.3 - 2 1017 c.592C>A c.(592-594)CAG>AAG p.Q198K TRPC6_uc009ywy.2_Missense_Mutation_p.Q198K|TRPC6_uc009ywz.1_Missense_Mutation_p.Q198K NM_004621 NP_004612 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, 198 Cytoplasmic (Potential). axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding skin(2)|ovary(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) AGTTCAGACTGGCTAGGGCTG 0.468 Colon(166;1315 1927 11094 12848 34731) NA 7 41 8.12818e-05 8.78788e-05 0.001984 1 0 DYNC2H1 79659 broad.mit.edu 37 11 103106399 103106399 + Splice_Site SNP A A T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:103106399A>T uc001pho.2 + 62 9712 c.9568_splice c.e62-2 p.V3190_splice DYNC2H1_uc001phn.1_Splice_Site_p.V3190_splice|DYNC2H1_uc009yxe.1_Intron NM_001080463 NP_001073932 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity 0 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) TCTTTTTTCCAGGTTGTAGAG 0.373 NA 4 5 0 0 0.009096 0 0 DDI1 414301 broad.mit.edu 37 11 103908684 103908684 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:103908684G>T uc001phr.2 + 1 1377 c.1134G>T c.(1132-1134)GAG>GAT p.E378D PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron NM_001001711 NP_001001711 Q8WTU0 DDI1_HUMAN DDI1, DNA-damage inducible 1, homolog 1 378 proteolysis aspartic-type endopeptidase activity large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1) 5 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164) BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169) GGCAAGATGAGTCTTCGGACA 0.458 NA 5 31 1.23904e-05 1.37125e-05 0.000602 1 0 CUL5 8065 broad.mit.edu 37 11 107965125 107965125 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:107965125G>A uc001pjv.2 + 14 2118 c.1451G>A c.(1450-1452)GGT>GAT p.G484D CUL5_uc001pju.2_RNA NM_003478 NP_003469 Q93034 CUL5_HUMAN Vasopressin-activated calcium-mobilizing 484 cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction cullin-RING ubiquitin ligase complex|cytosol calcium channel activity|receptor activity|ubiquitin protein ligase binding ovary(1) 1 all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217) TAGGAAGTTGGTATGCCAGCG 0.289 NA 4 30 0 0 0.000602 0 0 NCAM1 4684 broad.mit.edu 37 11 113103046 113103046 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:113103046C>G uc009yyq.1 + 12 1813 c.1119C>G c.(1117-1119)ATC>ATG p.I373M NM_001076682 NP_001070150 P13591 NCAM1_HUMAN neural cell adhesion molecule 1 isoform 3 465 Ig-like C2-type 5.|Extracellular (Potential). axon guidance|interferon-gamma-mediated signaling pathway anchored to membrane|extracellular region|Golgi membrane|integral to membrane ovary(1) 1 all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212) ATATCAAGATCTACAACACCC 0.527 NA 6 52 0 0 0.001984 0 0 DRD2 1813 broad.mit.edu 37 11 113286152 113286152 + Silent SNP A A T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:113286152A>T uc001pnz.2 - 4 1035 c.714T>A c.(712-714)GCT>GCA p.A238A DRD2_uc010rwv.1_Silent_p.A237A|DRD2_uc001poa.3_Silent_p.A238A|DRD2_uc001pob.3_Silent_p.A238A|DRD2_uc009yyr.1_Silent_p.A238A NM_000795 NP_000786 P14416 DRD2_HUMAN dopamine receptor D2 isoform long 238 Cytoplasmic (By similarity).|Interaction with PPP1R9B (By similarity). activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning integral to plasma membrane dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding pancreas(1)|skin(1) 2 all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494) BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624) CCTTTAGTGGAGCCCTCAGGT 0.572 NA 27 117 0 0 0.00632 0 0 FAM55D 54827 broad.mit.edu 37 11 114453161 114453161 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:114453161C>T uc001ppc.2 - 3 860 c.679G>A c.(679-681)GCT>ACT p.A227T FAM55D_uc001ppd.2_Intron NM_001077639 NP_001071107 Q6UWF7 FA55D_HUMAN hypothetical protein LOC54827 isoform 1 227 extracellular region ovary(2)|skin(2) 4 all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906) BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938) CACAATTCAGCATTTGTGTTT 0.488 NA 4 45 0 0 0.000602 0 0 APOA5 116519 broad.mit.edu 37 11 116661394 116661394 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:116661394G>T uc001ppr.2 - 3 559 c.551C>A c.(550-552)ACC>AAC p.T184N ZNF259_uc001ppp.2_5'Flank|ZNF259_uc009yzd.2_5'Flank|ZNF259_uc001ppq.2_5'Flank|APOA5_uc009yze.2_Missense_Mutation_p.T184N|APOA5_uc009yzf.2_Missense_Mutation_p.T184N|APOA5_uc009yzg.2_Missense_Mutation_p.T210N NM_052968 NP_443200 Q6Q788 APOA5_HUMAN apolipoprotein AV precursor 184 acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding 0 all_hematologic(175;0.0487) all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149) GAAGCGGCCGGTGTGGTGCAC 0.682 NA 11 39 1.33987e-11 1.68295e-11 0.008291 1 0 APOA4 337 broad.mit.edu 37 11 116691596 116691596 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:116691596G>A uc001pps.1 - 3 1282 c.1178C>T c.(1177-1179)CCT>CTT p.P393L NM_000482 NP_000473 apolipoprotein A-IV precursor 0 all_hematologic(175;0.0487) Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148) GCTCTCCAAAGGGGCCAGCAT 0.483 NA 10 47 0 0 0.006214 0 0 DSCAML1 57453 broad.mit.edu 37 11 117395754 117395754 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:117395754G>T uc001prh.1 - 5 885 c.883C>A c.(883-885)CAG>AAG p.Q295K DSCAML1_uc001pri.1_Missense_Mutation_p.Q99K NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 235 Ig-like C2-type 3.|Extracellular (Potential). axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1) 8 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) CACACTTCCTGGGAGTGGAAG 0.697 NA 5 15 0.000602214 0.000636401 0.000602 1 0 TREH 11181 broad.mit.edu 37 11 118532435 118532435 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:118532435G>C uc001pty.1 - 6 573 c.528C>G c.(526-528)GAC>GAG p.D176E TREH_uc009zaj.1_Intron|TREH_uc001ptz.1_Missense_Mutation_p.D53E|TREH_uc009zak.2_Missense_Mutation_p.D176E NM_007180 NP_009111 O43280 TREA_HUMAN trehalase precursor 176 polysaccharide digestion|trehalose catabolic process anchored to plasma membrane alpha,alpha-trehalase activity pancreas(1) 1 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;3.16e-05) CCCAGTAGGAGTCCCTGGGGA 0.632 NA 19 39 0 0 0.008871 0 0 CBL 867 broad.mit.edu 37 11 119170450 119170450 + Nonsense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:119170450G>T uc001pwe.2 + 16 2818 c.2680G>T c.(2680-2682)GAA>TAA p.E894* NM_005188 NP_005179 P22681 CBL_HUMAN Cas-Br-M (murine) ecotropic retroviral 894 Interaction with CD2AP.|UBA. epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis cytosol|nucleus calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(135)|lung(10)|central_nervous_system(2)|ovary(1)|breast(1) 149 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784) CATCCTCCGGGAATTTGTTTC 0.488 NA CBL_gene-associated_Juvenile_Myelomonocytic_Leukemia_and_Developmental_Anomalies|Noonan_syndrome 126 202 9.77321e-77 1.38042e-76 0.01441 1 0 MFRP 83552 broad.mit.edu 37 11 119215663 119215663 + Silent SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:119215663G>T uc001pwj.2 - 6 853 c.693C>A c.(691-693)CTC>CTA p.L231L MFRP_uc010rzf.1_RNA|MFRP_uc010rzg.1_Silent_p.L231L NM_031433 NP_113621 Q9BXJ0 C1QT5_HUMAN membrane frizzled-related protein Error:Variant_position_missing_in_Q9BXJ0_after_alignment collagen 0 Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.84e-05) AGACCACCAGGAGGTGGCTGG 0.617 NA 5 14 1.23904e-05 1.37125e-05 0.000602 1 0 TBCEL 219899 broad.mit.edu 37 11 120916426 120916426 + Silent SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:120916426C>T uc009zay.2 + 2 105 c.27C>T c.(25-27)TTC>TTT p.F9F TBCEL_uc001pxo.2_Silent_p.F9F|TBCEL_uc001pxp.2_5'UTR|TBCEL_uc001pxq.2_RNA NM_001130047 NP_001123519 Q5QJ74 TBCEL_HUMAN tubulin folding cofactor E-like 9 cytoplasm|cytoskeleton skin(1) 1 Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121) GAAGAAGTTTCATGCAAGTAT 0.363 NA 12 15 0 0 0.001855 0 0 ZNF202 7753 broad.mit.edu 37 11 123601254 123601254 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:123601254C>T uc001pzd.1 - 4 743 c.343G>A c.(343-345)GAG>AAG p.E115K ZNF202_uc001pzc.1_5'UTR|ZNF202_uc001pze.1_Missense_Mutation_p.E115K|ZNF202_uc001pzf.1_Missense_Mutation_p.E115K NM_003455 NP_003446 O95125 ZN202_HUMAN zinc finger protein 202 115 SCAN box. lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03) ACTGCCTCCTCGCCACTTTCT 0.582 NA 42 94 0 0 0.009718 0 0 OR8B4 283162 broad.mit.edu 37 11 124294222 124294222 + Silent SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:124294222G>T uc010sak.1 - 1 546 c.546C>A c.(544-546)CCC>CCA p.P182P NM_001005196 NP_001005196 Q96RC9 OR8B4_HUMAN olfactory receptor, family 8, subfamily B, 182 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) GCTGCAAGAGGGGGAGAACGT 0.507 NA 8 28 0.000157383 0.0001694 0.00308 1 0 APLP2 334 broad.mit.edu 37 11 129996686 129996686 + Silent SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:129996686G>A uc010sby.1 + 8 1339 c.1182G>A c.(1180-1182)AAG>AAA p.K394K APLP2_uc001qfp.2_Silent_p.K394K|APLP2_uc001qfq.2_Silent_p.K338K|APLP2_uc010sbz.1_Silent_p.K182K|APLP2_uc001qfr.2_Silent_p.K160K|APLP2_uc001qfs.2_Silent_p.K165K|APLP2_uc001qfv.2_Silent_p.K285K NM_001642 NP_001633 Q06481 APLP2_HUMAN amyloid beta (A4) precursor-like protein 2 394 Extracellular (Potential). G-protein coupled receptor protein signaling pathway integral to membrane|nucleus|plasma membrane DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity ovary(3) 3 all_hematologic(175;0.0429) Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24) AGAAGGCTAAGGAGCAGCTGG 0.468 NA 57 111 0 0 0.01441 0 0 WNK1 65125 broad.mit.edu 37 12 994187 994187 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr12:994187C>T uc001qio.3 + 19 4724 c.4217C>T c.(4216-4218)TCA>TTA p.S1406L WNK1_uc001qip.3_Missense_Mutation_p.S1159L|WNK1_uc001qir.3_Missense_Mutation_p.S579L NM_018979 NP_061852 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 1406 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) GTGTCTGAATCACCAGTACTT 0.498 Colon(19;451 567 6672 12618 28860) NA 21 60 0 0 0.010504 0 0 AKAP3 10566 broad.mit.edu 37 12 4747357 4747357 + Silent SNP T T C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr12:4747357T>C uc001qnb.3 - 3 235 c.6A>G c.(4-6)TCA>TCG p.S2S NM_006422 NP_006413 O75969 AKAP3_HUMAN A-kinase anchor protein 3 2 acrosome reaction|cellular component movement acrosomal vesicle protein kinase A binding skin(3)|large_intestine(1)|ovary(1)|kidney(1) 6 CAACCTTTTCTGACATCTGGA 0.428 NA 16 42 0 0 0.004007 0 0 GRIN2B 2904 broad.mit.edu 37 12 13717013 13717013 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr12:13717013G>T uc001rbt.2 - 13 3338 c.3159C>A c.(3157-3159)GAC>GAA p.D1053E NM_000834 NP_000825 Q13224 NMDE2_HUMAN N-methyl-D-aspartate receptor subunit 2B 1053 Cytoplasmic (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding central_nervous_system(4)|ovary(3)|skin(3)|lung(2) 12 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GGATCAAGTCGTCGTGGCCAC 0.572 NA 13 20 0.00010058 0.000108581 0.013537 1 0 GRIN2B 2904 broad.mit.edu 37 12 13717313 13717313 + Silent SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr12:13717313G>T uc001rbt.2 - 13 3038 c.2859C>A c.(2857-2859)CCC>CCA p.P953P NM_000834 NP_000825 Q13224 NMDE2_HUMAN N-methyl-D-aspartate receptor subunit 2B 953 Cytoplasmic (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding central_nervous_system(4)|ovary(3)|skin(3)|lung(2) 12 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TCTCCTCACAGGGCGGGTTGT 0.547 NA 23 63 3.5997e-14 4.67092e-14 0.014323 1 0 ABCC9 10060 broad.mit.edu 37 12 21981911 21981911 + Missense_Mutation SNP C C G rs12298510 TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr12:21981911C>G uc001rfi.1 - 29 3670 c.3650G>C c.(3649-3651)AGA>ACA p.R1217T ABCC9_uc001rfh.2_Missense_Mutation_p.R1217T|ABCC9_uc001rfj.1_Missense_Mutation_p.R1181T NM_005691 NP_005682 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C, member 9 1217 Extracellular (Potential).|ABC transmembrane type-1 2. 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) CTCCAGCCATCTGTTGGCAGC 0.418 NA 11 38 0 0 0.013537 0 0 ABCC9 10060 broad.mit.edu 37 12 22068796 22068796 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr12:22068796G>T uc001rfi.1 - 5 642 c.622C>A c.(622-624)CTC>ATC p.L208I ABCC9_uc001rfh.2_Missense_Mutation_p.L208I|ABCC9_uc001rfj.1_Missense_Mutation_p.L208I NM_005691 NP_005682 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C, member 9 208 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) AGATCCTGGAGGTCTTCAGGA 0.363 NA 7 13 8.12818e-05 8.78788e-05 0.001984 1 0 ITPR2 3709 broad.mit.edu 37 12 26553192 26553192 + Splice_Site SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr12:26553192C>G uc001rhg.2 - 53 7817 c.7400_splice c.e53-1 p.A2467_splice ITPR2_uc009zjg.1_Splice_Site_p.A618_splice NM_002223 NP_002214 Q14571 ITPR2_HUMAN inositol 1,4,5-triphosphate receptor, type 2 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) TCTTCATCAGCTATAAAAACA 0.284 NA 10 27 0 0 0.006214 0 0 TMTC1 83857 broad.mit.edu 37 12 29786167 29786167 + Missense_Mutation SNP C C A rs139579223 by1000genomes TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr12:29786167C>A uc001rjb.2 - 6 1191 c.717G>T c.(715-717)GAG>GAT p.E239D TMTC1_uc001riz.2_5'UTR|TMTC1_uc001rja.2_Missense_Mutation_p.E83D|TMTC1_uc001rjc.1_Missense_Mutation_p.E301D NM_175861 NP_787057 Q8IUR5 TMTC1_HUMAN transmembrane and tetratricopeptide repeat 347 integral to membrane binding 0 Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032) CCCATATGGTCTCTACCAGAG 0.507 NA 9 36 1.12685e-05 1.25378e-05 0.004482 1 0 CNTN1 1272 broad.mit.edu 37 12 41410526 41410526 + Missense_Mutation SNP A A G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr12:41410526A>G uc001rmm.1 + 19 2340 c.2227A>G c.(2227-2229)ATA>GTA p.I743V CNTN1_uc001rmn.1_Missense_Mutation_p.I732V NM_001843 NP_001834 Q12860 CNTN1_HUMAN contactin 1 isoform 1 precursor 743 Fibronectin type-III 2. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane lung(4)|ovary(3)|large_intestine(1)|skin(1) 9 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) TTTTGGTTACATAGTGGCATT 0.363 NA 12 30 0 0 0.010729 0 0 NELL2 4753 broad.mit.edu 37 12 45004705 45004705 + Nonsense_Mutation SNP A A T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr12:45004705A>T uc001rog.2 - 14 2088 c.1493T>A c.(1492-1494)TTA>TAA p.L498* NELL2_uc001rof.3_Nonsense_Mutation_p.L497*|NELL2_uc001roh.2_Nonsense_Mutation_p.L498*|NELL2_uc009zkd.2_Nonsense_Mutation_p.L497*|NELL2_uc010skz.1_Nonsense_Mutation_p.L548*|NELL2_uc010sla.1_Nonsense_Mutation_p.L521*|NELL2_uc001roi.1_Nonsense_Mutation_p.L498*|NELL2_uc010slb.1_Nonsense_Mutation_p.L497* NM_001145108 NP_001138580 Q99435 NELL2_HUMAN NEL-like protein 2 isoform b precursor 498 EGF-like 3. cell adhesion extracellular region calcium ion binding|protein binding|structural molecule activity skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 4 Lung SC(27;0.192) Lung NSC(34;0.144) GBM - Glioblastoma multiforme(48;0.092) GTTGAAGCATAAAGCATTTTC 0.388 NA 22 37 0 0 0.014323 0 0 DBX2 440097 broad.mit.edu 37 12 45410214 45410214 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr12:45410214C>G uc001rok.1 - 4 1047 c.875G>C c.(874-876)AGG>ACG p.R292T NM_001004329 NP_001004329 Q6ZNG2 DBX2_HUMAN developing brain homeobox 2 292 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Lung SC(27;0.192) Lung NSC(34;0.142) GBM - Glioblastoma multiforme(48;0.0515) AGAATTCTCCCTCCATCTTGG 0.502 NA 13 48 0 0 0.013537 0 0 SFRS2IP 9169 broad.mit.edu 37 12 46321290 46321290 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr12:46321290C>G uc001rox.2 - 11 2481 c.2194G>C c.(2194-2196)GAA>CAA p.E732Q SFRS2IP_uc001row.2_Missense_Mutation_p.E417Q|SFRS2IP_uc001roy.1_Missense_Mutation_p.E806Q NM_004719 NP_004710 Q99590 SCAFB_HUMAN splicing factor, arginine/serine-rich 2, 732 spliceosome assembly nucleus protein binding|zinc ion binding 0 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.209) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.1) GGTTCAACTTCAGATTCATTT 0.348 NA 5 69 0 0 0.001168 0 0 ASB8 140461 broad.mit.edu 37 12 48543473 48543473 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr12:48543473G>T uc001rrh.2 - 4 712 c.543C>A c.(541-543)AAC>AAA p.N181K ASB8_uc010slr.1_Missense_Mutation_p.N177K NM_024095 NP_077000 Q9H765 ASB8_HUMAN ankyrin repeat and SOCS box-containing 8 181 intracellular signal transduction cytoplasm|nucleus kidney(1) 1 GGCCTATTAGGTTGATGACTC 0.522 NA 18 56 1.45105e-14 1.88793e-14 0.006122 1 0 WNT1 7471 broad.mit.edu 37 12 49373271 49373271 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr12:49373271C>T uc001rsu.2 + 2 323 c.125C>T c.(124-126)TCC>TTC p.S42F NM_005430 NP_005421 P04628 WNT1_HUMAN wingless-type MMTV integration site family, 42 brain segmentation|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|central nervous system morphogenesis|cerebellum formation|dermatome development|diencephalon development|embryonic axis specification|forebrain anterior/posterior pattern formation|fourth ventricle development|hemopoietic stem cell proliferation|hepatocyte differentiation|inner ear morphogenesis|mesoderm morphogenesis|midbrain development|midbrain-hindbrain boundary maturation during brain development|negative regulation of cell-cell adhesion|negative regulation of cell-substrate adhesion|negative regulation of DNA damage checkpoint|negative regulation of fat cell differentiation|neuron fate determination|positive regulation of fibroblast proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of lamellipodium assembly|positive regulation of Notch signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to wounding|signal transduction in response to DNA damage|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway, calcium modulating pathway early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix cytokine activity|frizzled-2 binding|transcription regulatory region DNA binding kidney(1) 1 BRCA - Breast invasive adenocarcinoma(357;0.244) AACGTAGCCTCCTCCACGAAC 0.552 NA 25 71 0 0 0.007291 0 0 MLL2 8085 broad.mit.edu 37 12 49435132 49435132 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr12:49435132C>A uc001rta.3 - 31 6421 c.6421G>T c.(6421-6423)GGG>TGG p.G2141W NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 2141 Pro-rich. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 TTCAGGAACCCGTCCGCAGAG 0.711 NA N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 7 12 0.00198382 0.00206488 0.001984 1 0 NR4A1 3164 broad.mit.edu 37 12 52448768 52448768 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr12:52448768G>T uc001rzs.2 + 3 970 c.656G>T c.(655-657)GGG>GTG p.G219V NR4A1_uc010sno.1_Missense_Mutation_p.G232V|NR4A1_uc001rzr.2_Missense_Mutation_p.G219V|NR4A1_uc009zmb.1_Missense_Mutation_p.G219V|NR4A1_uc001rzt.2_Missense_Mutation_p.G219V|NR4A1_uc009zmc.2_5'Flank NM_002135 NP_002126 P22736 NR4A1_HUMAN nuclear receptor subfamily 4, group A, member 1 219 nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor steroid hormone receptor activity|zinc ion binding 0 BRCA - Breast invasive adenocarcinoma(357;0.0967) CACCAGCTGGGGGAGGGAGAG 0.632 NA 82 159 3.80779e-57 5.36267e-57 0.01441 1 0 C12orf44 60673 broad.mit.edu 37 12 52467573 52467573 + Missense_Mutation SNP A A G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr12:52467573A>G uc001rzu.3 + 3 614 c.139A>G c.(139-141)ATT>GTT p.I47V C12orf44_uc009zmd.2_Missense_Mutation_p.I47V NM_021934 NP_068753 Q9BSB4 ATGA1_HUMAN Atg13-interacting protein 47 I -> T (in Ref. 1; BAB13907). autophagic vacuole assembly pre-autophagosomal structure identical protein binding|protein complex binding 0 BRCA - Breast invasive adenocarcinoma(357;0.0978) CACCTACTCCATTGGCACCGT 0.587 NA 18 34 0 0 0.00499 0 0 KRT82 3888 broad.mit.edu 37 12 52788852 52788853 + Missense_Mutation DNP GG GG TT TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr12:52788852_52788853GG>TT uc001sai.1 - 9 1563_1564 c.1448_1449CC>AA c.(1447-1449)CCC>CAA p.P483Q NM_033033 NP_149022 Q9NSB4 KRT82_HUMAN keratin 82 483 Tail. keratin filament protein binding|structural constituent of epidermis ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(357;0.193) GGGGCTCGCAGGGGACATAGAG 0.634 NA 25 76 0 0 0.004672 0 0 KRT73 319101 broad.mit.edu 37 12 53010126 53010126 + Silent SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr12:53010126G>A uc001sas.2 - 2 521 c.486C>T c.(484-486)ACC>ACT p.T162T NM_175068 NP_778238 Q86Y46 K2C73_HUMAN keratin 73 162 Coil 1A.|Rod. keratin filament structural molecule activity large_intestine(2)|ovary(2)|skin(2) 6 BRCA - Breast invasive adenocarcinoma(357;0.189) GCTCCCACTTGGTCTCCAGCA 0.552 NA 18 78 0 0 0.00499 0 0 KRT2 3849 broad.mit.edu 37 12 53042001 53042001 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr12:53042001C>A uc001sat.2 - 5 1111 c.1078G>T c.(1078-1080)GCC>TCC p.A360S NM_000423 NP_000414 P35908 K22E_HUMAN keratin 2 360 Coil 2.|Rod. keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation Golgi apparatus|keratin filament protein binding|structural constituent of cytoskeleton ovary(2) 2 BRCA - Breast invasive adenocarcinoma(357;0.19) CTCCTCTGGGCGATCTCCTCA 0.572 NA 44 87 6.21074e-16 8.19073e-16 0.011902 1 0 KRT2 3849 broad.mit.edu 37 12 53045355 53045355 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr12:53045355G>A uc001sat.2 - 1 605 c.572C>T c.(571-573)TCC>TTC p.S191F NM_000423 NP_000414 P35908 K22E_HUMAN keratin 2 191 Coil 1A.|Rod. keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation Golgi apparatus|keratin filament protein binding|structural constituent of cytoskeleton ovary(2) 2 BRCA - Breast invasive adenocarcinoma(357;0.19) GTCAATGAAGGAGGCAAATTT 0.483 NA 12 48 0 0 0.010729 0 0 KRT8 3856 broad.mit.edu 37 12 53291304 53291304 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr12:53291304G>C uc001sbd.2 - 8 1463 c.1360C>G c.(1360-1362)CGC>GGC p.R454G KRT8_uc009zmj.2_3'UTR|KRT8_uc009zmk.1_Missense_Mutation_p.R482G|KRT8_uc009zml.1_Missense_Mutation_p.R454G|KRT8_uc009zmm.1_Missense_Mutation_p.R454G NM_002273 NP_002264 P05787 K2C8_HUMAN keratin 8 454 Tail. cytoskeleton organization|interspecies interaction between organisms cytoplasm|keratin filament|nuclear matrix|nucleoplasm protein binding|structural molecule activity ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(357;0.108) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GAGCTGGTGCGGCTGAAggag 0.423 NA 9 86 0 0 0.006214 0 0 TENC1 23371 broad.mit.edu 37 12 53451395 53451395 + Missense_Mutation SNP T T C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr12:53451395T>C uc001sbp.2 + 12 1025 c.890T>C c.(889-891)ATG>ACG p.M297T TENC1_uc001sbl.2_Missense_Mutation_p.M173T|TENC1_uc001sbn.2_Missense_Mutation_p.M307T|TENC1_uc001sbo.1_Missense_Mutation_p.M297T|TENC1_uc001sbq.2_5'Flank|TENC1_uc001sbr.2_5'Flank|TENC1_uc009zmr.2_5'Flank NM_170754 NP_736610 Q63HR2 TENC1_HUMAN tensin like C1 domain containing phosphatase 297 intracellular signal transduction|negative regulation of cell proliferation focal adhesion metal ion binding|phosphoprotein phosphatase activity|protein binding ovary(1)|pancreas(1) 2 TCCATCAGAATGAACAGCAGC 0.537 NA 221 193 0 0 0.01441 0 0 HOXC13 3229 broad.mit.edu 37 12 54338891 54338891 + Missense_Mutation SNP A A G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr12:54338891A>G uc001sei.2 + 2 959 c.844A>G c.(844-846)AGC>GGC p.S282G HOXC13_uc010sop.1_RNA NM_017410 NP_059106 P31276 HXC13_HUMAN homeobox C13 282 Homeobox. nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1) 1 ATACGCGGCTAGCAAGTTCAT 0.607 NA T NUP98 AML 29 119 0 0 0.007291 0 0 HNRNPA1 3178 broad.mit.edu 37 12 54675174 54675174 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr12:54675174C>G uc001sfl.2 + 2 124 c.20C>G c.(19-21)CCT>CGT p.P7R CBX5_uc001sfk.3_5'Flank|CBX5_uc001sfi.3_5'Flank|HNRNPA1_uc001sfm.2_Missense_Mutation_p.P7R|HNRNPA1_uc009zng.2_Missense_Mutation_p.P7R|HNRNPA1_uc009znh.2_Missense_Mutation_p.P7R|HNRNPA1_uc009zni.2_Missense_Mutation_p.P7R|HNRNPA1_uc001sfn.2_Missense_Mutation_p.P7R|HNRNPA1_uc001sfo.3_RNA|HNRNPA1_uc001sfp.1_5'UTR|HNRNPA1_uc009znj.1_5'Flank NM_031157 NP_112420 P09651 ROA1_HUMAN heterogeneous nuclear ribonucleoprotein A1 7 Globular A domain. interspecies interaction between organisms|mRNA transport|nuclear import catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm nucleotide binding|protein binding|single-stranded DNA binding skin(2)|ovary(1) 3 CTCTAGTCTCCTAAAGAGCCC 0.483 Colon(83;502 1289 8436 16406 24870) NA 24 44 0 0 0.00333 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54912725 54912725 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr12:54912725C>T uc001sgc.3 + 15 1527 c.1448C>T c.(1447-1449)TCA>TTA p.S483L NCKAP1L_uc010sox.1_Missense_Mutation_p.S25L|NCKAP1L_uc010soy.1_Missense_Mutation_p.S433L NM_005337 NP_005328 P55160 NCKPL_HUMAN NCK-associated protein 1-like 483 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity ovary(3)|central_nervous_system(1) 4 TTTGAATTCTCAGGATTGAGG 0.388 NA 7 38 0 0 0.004482 0 0 OR9K2 441639 broad.mit.edu 37 12 55523797 55523797 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr12:55523797C>A uc010spe.1 + 1 245 c.245C>A c.(244-246)ACA>AAA p.T82K NM_001005243 NP_001005243 Q8NGE7 OR9K2_HUMAN olfactory receptor, family 9, subfamily K, 82 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|pancreas(1) 2 CGGCTGAACACACCAATGTAT 0.388 NA 30 86 5.60225e-13 7.14804e-13 0.009535 1 0 OR6C2 341416 broad.mit.edu 37 12 55846499 55846499 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr12:55846499G>C uc001sgz.1 + 1 502 c.502G>C c.(502-504)GAC>CAC p.D168H NM_054105 NP_473446 Q9NZP2 OR6C2_HUMAN olfactory receptor, family 6, subfamily C, 168 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 CGAATTCTGTGACTCCAATGC 0.448 NA 15 28 0 0 0.003163 0 0 SUOX 6821 broad.mit.edu 37 12 56397693 56397693 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr12:56397693G>A uc001six.2 + 6 846 c.520G>A c.(520-522)GAC>AAC p.D174N SUOX_uc001siy.2_Missense_Mutation_p.D174N|SUOX_uc001siz.2_Missense_Mutation_p.D174N|SUOX_uc001sja.2_Missense_Mutation_p.D174N NM_000456 NP_000447 P51687 SUOX_HUMAN sulfite oxidase precursor 174 Hinge (By similarity). mitochondrial intermembrane space electron carrier activity|molybdenum ion binding|sulfite oxidase activity 0 UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119) GGAGACCTCTGACCCTTATGC 0.547 NA 8 61 0 0 0.00308 0 0 OBFC2B 79035 broad.mit.edu 37 12 56619478 56619478 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr12:56619478G>C uc001ski.2 + 4 413 c.289G>C c.(289-291)GAA>CAA p.E97Q OBFC2B_uc001skk.2_Missense_Mutation_p.E122Q|OBFC2B_uc001skj.2_Missense_Mutation_p.E113Q NM_024068 NP_076973 Q9BQ15 SOSB1_HUMAN oligonucleotide/oligosaccharide-binding fold 97 double-strand break repair via homologous recombination|G2/M transition checkpoint|response to ionizing radiation SOSS complex protein binding|single-stranded DNA binding ovary(1) 1 GAAGATTGGAGAGTAAGTGCT 0.488 NA Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function 20 110 0 0 0.014323 0 0 ANKRD52 283373 broad.mit.edu 37 12 56647906 56647906 + Missense_Mutation SNP T T A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr12:56647906T>A uc001skm.3 - 8 941 c.851A>T c.(850-852)AAT>ATT p.N284I ANKRD52_uc001skn.1_RNA NM_173595 NP_775866 Q8NB46 ANR52_HUMAN ankyrin repeat domain 52 284 ANK 9. protein binding ovary(2) 2 GAGAGCGCCATTGGTGGAGAC 0.552 NA 15 82 0 0 0.003163 0 0 RDH16 8608 broad.mit.edu 37 12 57346020 57346020 + Silent SNP T T A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr12:57346020T>A uc001smi.3 - 4 919 c.747A>T c.(745-747)TCA>TCT p.S249S RDH16_uc009zpa.2_Silent_p.S104S NM_003708 NP_003699 O75452 RDH16_HUMAN retinol dehydrogenase 16 249 Cytoplasmic (Potential). lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome binding|electron carrier activity|retinol dehydrogenase activity 0 TTTGTTCAGCTGATTTCTTAT 0.468 GBM(179;741 2921 43105 45298) NA 13 27 0 0 0.013537 0 0 AVPR1A 552 broad.mit.edu 37 12 63543950 63543950 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr12:63543950C>T uc001sro.1 - 1 2641 c.667G>A c.(667-669)GGC>AGC p.G223S NM_000706 NP_000697 P37288 V1AR_HUMAN arginine vasopressin receptor 1A 223 Helical; Name=5; (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) ACAAAGATGCCGCCCGTCATC 0.617 NA 25 135 0 0 0.003954 0 0 SRGAP1 57522 broad.mit.edu 37 12 64536211 64536211 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr12:64536211C>T uc010ssp.1 + 22 3073 c.3017C>T c.(3016-3018)ACG>ATG p.T1006M SRGAP1_uc001srv.2_Missense_Mutation_p.T943M NM_020762 NP_065813 Q7Z6B7 SRGP1_HUMAN SLIT-ROBO Rho GTPase activating protein 1 1006 axon guidance cytosol ovary(2)|central_nervous_system(2) 4 GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225) GBM - Glioblastoma multiforme(28;0.0608) GCCACTTCCACGGAATCTCTC 0.552 NA 18 37 0 0 0.00499 0 0 PTPRR 5801 broad.mit.edu 37 12 71094993 71094993 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr12:71094993G>A uc001swi.1 - 7 1534 c.1118C>T c.(1117-1119)TCA>TTA p.S373L PTPRR_uc001swh.1_Missense_Mutation_p.S128L|PTPRR_uc009zrs.2_Missense_Mutation_p.S222L|PTPRR_uc010stq.1_Missense_Mutation_p.S261L|PTPRR_uc010str.1_Missense_Mutation_p.S222L NM_002849 NP_002840 Q15256 PTPRR_HUMAN protein tyrosine phosphatase, receptor type, R 373 Cytoplasmic (Potential). in utero embryonic development cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity skin(2)|ovary(1) 3 GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132) COAD - Colon adenocarcinoma(1;0.136) TCGGCTGGCTGACTGCAGATA 0.458 NA 10 46 0 0 0.006214 0 0 LGR5 8549 broad.mit.edu 37 12 71977541 71977541 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr12:71977541G>A uc001swl.2 + 18 1799 c.1751G>A c.(1750-1752)AGA>AAA p.R584K LGR5_uc001swm.2_Missense_Mutation_p.R560K|LGR5_uc001swn.1_RNA NM_003667 NP_003658 O75473 LGR5_HUMAN leucine-rich repeat-containing G protein-coupled 584 Cytoplasmic (Potential). integral to plasma membrane protein-hormone receptor activity lung(4)|skin(3)|ovary(1)|pancreas(1) 9 ACAGTTTTCAGATCCCCTCTG 0.493 NA 22 104 0 0 0.012319 0 0 TRHDE 29953 broad.mit.edu 37 12 72680629 72680629 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr12:72680629G>T uc001sxa.2 + 2 978 c.948G>T c.(946-948)TGG>TGT p.W316C NM_013381 NP_037513 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 316 Extracellular (Potential). cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding ovary(2)|skin(1) 3 AAGATGGATGGGTTACGGATC 0.418 NA 30 56 3.65163e-15 4.77672e-15 0.00632 1 0 NAV3 89795 broad.mit.edu 37 12 78400307 78400307 + Missense_Mutation SNP A A T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr12:78400307A>T uc001syp.2 + 8 1162 c.989A>T c.(988-990)AAG>ATG p.K330M NAV3_uc001syo.2_Missense_Mutation_p.K330M NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 330 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 AGTGCCAGCAAGCCCTGGCGC 0.547 NA HNSCC(70;0.22) 19 40 0 0 0.007413 0 0 NAV3 89795 broad.mit.edu 37 12 78574751 78574751 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr12:78574751C>A uc001syp.2 + 30 5791 c.5618C>A c.(5617-5619)ACC>AAC p.T1873N NAV3_uc001syo.2_Missense_Mutation_p.T1851N|NAV3_uc010sub.1_Missense_Mutation_p.T1330N|NAV3_uc009zsf.2_Missense_Mutation_p.T682N NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 1873 Ser-rich. nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 TCAAGCAGCACCTCCTCTTCA 0.448 NA HNSCC(70;0.22) 7 19 0.00198382 0.00206488 0.001984 1 0 SLC6A15 55117 broad.mit.edu 37 12 85285753 85285754 + Missense_Mutation DNP TG TG CT TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 TG TG - - TG TG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr12:85285753_85285754TG>CT uc001szv.2 - 2 639_640 c.146_147CA>AG c.(145-147)ACA>AAG p.T49K SLC6A15_uc010sul.1_Intron|SLC6A15_uc001szy.2_Missense_Mutation_p.T49K NM_182767 NP_877499 Q9H2J7 S6A15_HUMAN solute carrier family 6, member 15 isoform 1 49 Cytoplasmic (Potential). cellular nitrogen compound metabolic process|leucine transport|proline transport integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity pancreas(2)|ovary(1) 3 CTTCAACATCTGTATCTTTCTC 0.406 NA 7 74 0 0 0.004672 0 0 TMTC3 160418 broad.mit.edu 37 12 88588674 88588674 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr12:88588674C>T uc001tau.2 + 14 2213 c.1993C>T c.(1993-1995)CCA>TCA p.P665S NM_181783 NP_861448 Q6ZXV5 TMTC3_HUMAN transmembrane and tetratricopeptide repeat 666 integral to membrane binding skin(1) 1 AAATGAAGAGCCACTAGATGC 0.313 NA 3 22 0 0 0.004672 0 0 GALNT4 8693 broad.mit.edu 37 12 89916936 89916936 + Missense_Mutation SNP T T A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr12:89916936T>A uc001tbd.2 - 1 1600 c.1391A>T c.(1390-1392)GAC>GTC p.D464V POC1B_uc001tba.2_Intron|POC1B_uc001tbb.2_Intron|POC1B_uc001tbc.2_Intron|POC1B_uc010sun.1_Intron|GALNT4_uc001tbe.2_Missense_Mutation_p.D461V|GALNT4_uc010suo.1_Missense_Mutation_p.D156V NM_003774 NP_003765 Q8N4A0 GALT4_HUMAN polypeptide N-acetylgalactosaminyltransferase 4 464 Ricin B-type lectin.|Lumenal (Potential). carbohydrate metabolic process Golgi membrane|integral to membrane|perinuclear region of cytoplasm polypeptide N-acetylgalactosaminyltransferase activity|sugar binding 0 GGGGTTGTTGTCAGGAGAATT 0.403 NA 11 43 0 0 0.008291 0 0 PLEKHG7 440107 broad.mit.edu 37 12 93163941 93163941 + Silent SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr12:93163941C>T uc001tcj.2 + 12 1340 c.1110C>T c.(1108-1110)TTC>TTT p.F370F NM_001004330 NP_001004330 Q6ZR37 PKHG7_HUMAN pleckstrin homology domain containing, family G 370 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity ovary(1) 1 TATCTTTATTCACATTGCCCG 0.318 NA 5 23 0 0 0.000602 0 0 NR1H4 9971 broad.mit.edu 37 12 100934574 100934574 + Silent SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr12:100934574G>A uc001tht.1 + 7 1114 c.1086G>A c.(1084-1086)TTG>TTA p.L362L NR1H4_uc001thp.1_Silent_p.L348L|NR1H4_uc001thq.1_Silent_p.L352L|NR1H4_uc010svj.1_RNA|NR1H4_uc001thr.1_Silent_p.L352L|NR1H4_uc010svk.1_Silent_p.L301L|NR1H4_uc001ths.1_Silent_p.L358L NM_005123 NP_005114 Q96RI1 NR1H4_HUMAN nuclear receptor subfamily 1, group H, member 4 362 Ligand-binding. bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(1)|lung(1)|skin(1) 3 CTGACCTATTGGAAGAAAGAA 0.333 NA 14 33 0 0 0.001855 0 0 NR1H4 9971 broad.mit.edu 37 12 100957082 100957082 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr12:100957082C>T uc001tht.1 + 9 1304 c.1276C>T c.(1276-1278)CTT>TTT p.L426F NR1H4_uc001thp.1_Missense_Mutation_p.L412F|NR1H4_uc001thq.1_Missense_Mutation_p.L416F|NR1H4_uc010svj.1_RNA|NR1H4_uc001thr.1_Missense_Mutation_p.L416F|NR1H4_uc010svk.1_Missense_Mutation_p.L365F|NR1H4_uc001ths.1_Missense_Mutation_p.L422F NM_005123 NP_005114 Q96RI1 NR1H4_HUMAN nuclear receptor subfamily 1, group H, member 4 426 Ligand-binding. bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(1)|lung(1)|skin(1) 3 GGAGCCACTTCTTGATGTGCT 0.383 NA 19 23 0 0 0.007413 0 0 GAS2L3 283431 broad.mit.edu 37 12 101018004 101018004 + Missense_Mutation SNP T T C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr12:101018004T>C uc001thu.2 + 10 1647 c.1421T>C c.(1420-1422)TTG>TCG p.L474S GAS2L3_uc009zty.2_Missense_Mutation_p.L474S|GAS2L3_uc001thv.2_Missense_Mutation_p.L370S NM_174942 NP_777602 Q86XJ1 GA2L3_HUMAN growth arrest-specific 2 like 3 474 cell cycle arrest skin(1) 1 CCTAAGTATTTGAAACATAAT 0.403 NA 5 38 0 0 0.000602 0 0 HSP90B1 7184 broad.mit.edu 37 12 104340715 104340715 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr12:104340715C>G uc001tkb.1 + 16 2363 c.2258C>G c.(2257-2259)GCA>GGA p.A753G HSP90B1_uc010swg.1_Missense_Mutation_p.A418G|HSP90B1_uc009zui.1_Intron NM_003299 NP_003290 P14625 ENPL_HUMAN heat shock protein 90kDa beta, member 1 753 actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding ovary(2)|skin(1) 3 Rifabutin(DB00615) GACCCTGATGCAAAGGTTTGT 0.453 NA 5 25 0 0 0.001168 0 0 CHST11 50515 broad.mit.edu 37 12 105150924 105150924 + Silent SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr12:105150924C>T uc001tkx.1 + 4 693 c.402C>T c.(400-402)CTC>CTT p.L134L CHST11_uc001tky.2_Silent_p.L129L|uc001tkz.2_5'Flank NM_018413 NP_060883 Q9NPF2 CHSTB_HUMAN carbohydrate sulfotransferase 11 134 Lumenal (Potential). chondroitin sulfate biosynthetic process Golgi membrane|integral to membrane chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity 0 GGAAGCGGCTCATGATGGTCC 0.612 NA 6 68 0 0 0.001168 0 0 KIAA1033 23325 broad.mit.edu 37 12 105515907 105515907 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr12:105515907C>G uc001tld.2 + 10 764 c.677C>G c.(676-678)TCT>TGT p.S226C KIAA1033_uc010swr.1_Missense_Mutation_p.S226C|KIAA1033_uc010sws.1_Missense_Mutation_p.S38C NM_015275 NP_056090 Q2M389 WAHS7_HUMAN hypothetical protein LOC23325 226 endosome transport WASH complex kidney(1)|central_nervous_system(1) 2 TTACTGAAATCTGTCCATCAC 0.284 NA 11 19 0 0 0.008291 0 0 POLR3B 55703 broad.mit.edu 37 12 106848433 106848433 + Missense_Mutation SNP A A G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr12:106848433A>G uc001tlp.2 + 20 2459 c.2237A>G c.(2236-2238)TAT>TGT p.Y746C POLR3B_uc001tlq.2_Missense_Mutation_p.Y688C NM_018082 NP_060552 Q9NW08 RPC2_HUMAN DNA-directed RNA polymerase III B isoform 1 746 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding ovary(1)|central_nervous_system(1) 2 GTGATGAGCTATAGTGGCTAT 0.373 NA 9 18 0 0 0.006214 0 0 PRDM4 11108 broad.mit.edu 37 12 108134944 108134944 + Missense_Mutation SNP T T C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr12:108134944T>C uc001tmp.2 - 10 2140 c.1703A>G c.(1702-1704)CAT>CGT p.H568R PRDM4_uc010sww.1_5'UTR|PRDM4_uc001tmq.2_RNA NM_012406 NP_036538 Q9UKN5 PRDM4_HUMAN PR domain containing 4 568 cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding breast(1)|skin(1) 2 AAGATGGTTATGGATGTGGCT 0.488 NA 15 85 0 0 0.004007 0 0 CORO1C 23603 broad.mit.edu 37 12 109055932 109055932 + Silent SNP T T C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr12:109055932T>C uc001tnj.2 - 4 417 c.321A>G c.(319-321)GTA>GTG p.V107V CORO1C_uc009zva.2_Silent_p.V160V|CORO1C_uc010sxf.1_Silent_p.V107V NM_014325 NP_055140 Q9ULV4 COR1C_HUMAN coronin, actin binding protein, 1C isoform 1 107 WD 1. actin cytoskeleton organization|phagocytosis|signal transduction actin cytoskeleton actin filament binding skin(3) 3 GGATCTGCCATACCTGTTGGA 0.438 NA 10 20 0 0 0.006214 0 0 PPTC7 160760 broad.mit.edu 37 12 110977723 110977723 + Silent SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr12:110977723G>A uc001trh.1 - 4 858 c.630C>T c.(628-630)TTC>TTT p.F210F NM_139283 NP_644812 Q8NI37 PPTC7_HUMAN T-cell activation protein phosphatase 2C 210 PP2C-like. metal ion binding|phosphoprotein phosphatase activity 0 GCTGGACATCGAAAGACGTGC 0.453 NA 3 31 0 0 0.004672 0 0 RBM19 9904 broad.mit.edu 37 12 114384250 114384250 + Missense_Mutation SNP T T C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr12:114384250T>C uc009zwi.2 - 12 1582 c.1438A>G c.(1438-1440)ATC>GTC p.I480V RBM19_uc001tvn.3_Missense_Mutation_p.I480V|RBM19_uc001tvm.2_Missense_Mutation_p.I480V NM_001146699 NP_001140171 Q9Y4C8 RBM19_HUMAN RNA binding motif protein 19 480 RRM 3. multicellular organismal development|positive regulation of embryonic development chromosome|cytoplasm|nucleolus|nucleoplasm nucleotide binding|RNA binding skin(3)|ovary(1)|liver(1)|central_nervous_system(1) 6 Medulloblastoma(191;0.163)|all_neural(191;0.178) TCCTTCTTGATGGTAGATGGT 0.562 NA 8 32 0 0 0.004482 0 0 NOS1 4842 broad.mit.edu 37 12 117660523 117660523 + Silent SNP T T A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr12:117660523T>A uc001twm.1 - 26 4658 c.3972A>T c.(3970-3972)CCA>CCT p.P1324P NM_000620 NP_000611 P29475 NOS1_HUMAN nitric oxide synthase 1, neuronal 1324 multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding ovary(3)|skin(3)|pancreas(1) 7 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) GGGTTACCTTTGGTTTGTCTG 0.552 Esophageal Squamous(162;1748 2599 51982 52956) NA 73 117 0 0 0.01441 0 0 CABP1 9478 broad.mit.edu 37 12 121098917 121098917 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr12:121098917G>A uc001tyu.2 + 5 1050 c.983G>A c.(982-984)CGA>CAA p.R328Q CABP1_uc001tyv.2_Missense_Mutation_p.R185Q|CABP1_uc001tyw.2_Missense_Mutation_p.R125Q|CABP1_uc001tyx.2_Missense_Mutation_p.R170Q NM_001033677 NP_001028849 Q9NZU7 CABP1_HUMAN calcium binding protein 1 isoform 3 328 EF-hand 3. cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding central_nervous_system(1) 1 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) AGTGAGCTGCGAGAGGCTATG 0.542 NA 13 44 0 0 0.001855 0 0 WDR66 144406 broad.mit.edu 37 12 122396299 122396299 + Nonsense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr12:122396299C>T uc009zxk.2 + 12 1994 c.1852C>T c.(1852-1854)CAA>TAA p.Q618* NM_144668 NP_653269 Q8TBY9 WDR66_HUMAN WD repeat domain 66 618 WD 6. calcium ion binding ovary(1)|skin(1) 2 all_neural(191;0.0496)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248) CCACCCATATCAACCCCTCAT 0.463 Esophageal Squamous(85;849 1794 49757 52143) NA 25 121 0 0 0.00278 0 0 UBC 7316 broad.mit.edu 37 12 125397990 125397990 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr12:125397990C>T uc001ugs.3 - 2 776 c.328G>A c.(328-330)GAA>AAA p.E110K UBC_uc001ugr.2_5'Flank|UBC_uc001ugu.1_Missense_Mutation_p.E110K|UBC_uc001ugt.2_Missense_Mutation_p.E110K|UBC_uc001ugv.2_Intron|UBC_uc001ugw.2_5'UTR NM_021009 NP_066289 P0CG48 UBC_HUMAN ubiquitin C 110 Ubiquitin-like 2. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|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|S phase of mitotic cell cycle|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|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding ovary(2) 2 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) GGAATGCCTTCCTTGTCCTGG 0.522 NA 32 222 0 0 0.013726 0 0 DHX37 57647 broad.mit.edu 37 12 125453184 125453184 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr12:125453184C>A uc001ugy.2 - 10 1403 c.1304G>T c.(1303-1305)AGG>ATG p.R435M NM_032656 NP_116045 Q8IY37 DHX37_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 37 435 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding skin(1) 1 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653) TGGGAACTGCCTGGATTCCAC 0.602 NA 45 149 2.43468e-25 3.34769e-25 0.01441 1 0 TMEM132B 114795 broad.mit.edu 37 12 126137061 126137061 + Silent SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr12:126137061G>T uc001uhe.1 + 8 1982 c.1974G>T c.(1972-1974)GCG>GCT p.A658A TMEM132B_uc001uhf.1_Silent_p.A170A NM_052907 NP_443139 Q14DG7 T132B_HUMAN transmembrane protein 132B 658 Extracellular (Potential). integral to membrane skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1) 19 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) TCACCATCGCGGAGCTGGGAG 0.587 NA 23 46 1.1804e-14 1.53854e-14 0.003954 1 0 EP400 57634 broad.mit.edu 37 12 132546780 132546780 + Silent SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr12:132546780C>T uc001ujn.2 + 45 8045 c.8010C>T c.(8008-8010)GTC>GTT p.V2670V EP400_uc001ujl.2_Silent_p.V2669V|EP400_uc001ujm.2_Silent_p.V2589V|EP400_uc001ujp.2_5'Flank NM_015409 NP_056224 Q96L91 EP400_HUMAN E1A binding protein p400 2706 Interaction with ZNF42 (By similarity). histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity central_nervous_system(4)|ovary(3)|breast(3)|skin(2) 12 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) TTCGAGCGGTCACTTCTGTGA 0.662 NA 15 99 0 0 0.00245 0 0 PGAM5 192111 broad.mit.edu 37 12 133291505 133291505 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr12:133291505C>G uc009zyv.2 + 2 280 c.253C>G c.(253-255)CTG>GTG p.L85V PGAM5_uc010tbr.1_RNA|PGAM5_uc001uku.2_Missense_Mutation_p.L85V NM_138575 NP_612642 Q96HS1 PGAM5_HUMAN phosphoglycerate mutase family member 5 85 integral to membrane|mitochondrial outer membrane phosphoprotein phosphatase activity 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.89e-08)|Epithelial(86;1.14e-07)|all cancers(50;3.57e-06) GGAAGAAGAGCTGGCGTCCAA 0.542 NA 8 87 0 0 0.008291 0 0 SACS 26278 broad.mit.edu 37 13 23913317 23913317 + Silent SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr13:23913317G>A uc001uon.2 - 10 5287 c.4698C>T c.(4696-4698)ATC>ATT p.I1566I SACS_uc001uoo.2_Silent_p.I1419I|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 1566 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) GAATGTCAGTGATATGGTACA 0.343 NA 5 48 0 0 0.001168 0 0 ATP8A2 51761 broad.mit.edu 37 13 26155990 26155990 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr13:26155990G>T uc001uqk.2 + 23 2183 c.2041G>T c.(2041-2043)GAT>TAT p.D681Y ATP8A2_uc010tdi.1_Missense_Mutation_p.D641Y|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc010aaj.1_Missense_Mutation_p.D191Y NM_016529 NP_057613 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter-like, 641 Cytoplasmic (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) AGCCATAGAAGATCGCCTTCA 0.393 NA 18 29 3.52763e-06 3.97372e-06 0.00499 1 0 FLT3 2322 broad.mit.edu 37 13 28578214 28578214 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr13:28578214G>T uc001urw.2 - 24 3039 c.2957C>A c.(2956-2958)CCG>CAG p.P986Q FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Missense_Mutation_p.P945Q NM_004119 NP_004110 P36888 FLT3_HUMAN fms-related tyrosine kinase 3 precursor 986 Cytoplasmic (Potential). positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1) 8549 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) CTGAGCCTGCGGAGAGAGTAG 0.463 NA Mis|O AML|ALL 17 27 1.15088e-07 1.34873e-07 0.004007 1 0 FLT1 2321 broad.mit.edu 37 13 28880878 28880878 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr13:28880878G>T uc001usb.3 - 29 4037 c.3752C>A c.(3751-3753)GCC>GAC p.A1251D FLT1_uc010aap.2_Missense_Mutation_p.A256D|FLT1_uc010aaq.2_Missense_Mutation_p.A376D|FLT1_uc001usa.3_Missense_Mutation_p.A469D NM_002019 NP_002010 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 isoform 1 1251 Cytoplasmic (Potential). cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1) 24 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) CATGGGAGAGGCCAACAGAGT 0.547 NA 6 36 5.9392e-07 6.8551e-07 0.001168 1 0 FLT1 2321 broad.mit.edu 37 13 29001982 29001982 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr13:29001982C>G uc001usb.3 - 9 1468 c.1183G>C c.(1183-1185)GTA>CTA p.V395L FLT1_uc010aar.1_Missense_Mutation_p.V395L|FLT1_uc001usc.3_Missense_Mutation_p.V395L|FLT1_uc010tdp.1_Missense_Mutation_p.V395L NM_002019 NP_002010 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 isoform 1 395 Ig-like C2-type 4.|Extracellular (Potential). cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1) 24 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) TCTTCAGTTACGTCCTTGATA 0.388 NA 15 39 0 0 0.003163 0 0 MTUS2 23281 broad.mit.edu 37 13 29600034 29600034 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr13:29600034C>T uc001usl.3 + 1 1287 c.1229C>T c.(1228-1230)TCT>TTT p.S410F NM_001033602 NP_001028774 Q5JR59 MTUS2_HUMAN hypothetical protein LOC23281 isoform a 400 cytoplasm|microtubule microtubule binding|protein homodimerization activity 0 AAACAGGGCTCTGCTTCCTTA 0.547 NA 5 15 0 0 0.000602 0 0 NBEA 26960 broad.mit.edu 37 13 35624523 35624523 + Missense_Mutation SNP A A T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr13:35624523A>T uc001uvb.2 + 7 1169 c.963A>T c.(961-963)CAA>CAT p.Q321H NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN neurobeachin 321 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding ovary(9)|large_intestine(2) 11 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) ATGATTTTCAACCACGCAAGG 0.353 NA 3 5 0 0 0.004672 0 0 NBEA 26960 broad.mit.edu 37 13 36241513 36241513 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr13:36241513G>T uc001uvb.2 + 56 8610 c.8404G>T c.(8404-8406)GGC>TGC p.G2802C NBEA_uc010abi.2_Missense_Mutation_p.G1460C|NBEA_uc010tef.1_Missense_Mutation_p.G595C|NBEA_uc001uvd.2_Missense_Mutation_p.G380C NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN neurobeachin 2802 WD 3. cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding ovary(9)|large_intestine(2) 11 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) CTTTGCAGAGGGCCCTTGCCT 0.532 NA 7 55 1.06961e-07 1.25857e-07 0.00308 1 0 DCLK1 9201 broad.mit.edu 37 13 36699915 36699915 + Silent SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr13:36699915C>G uc001uvf.2 - 2 593 c.360G>C c.(358-360)CTG>CTC p.L120L NM_004734 NP_004725 O15075 DCLK1_HUMAN doublecortin-like kinase 1 120 Doublecortin 1. cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus integral to plasma membrane ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity stomach(6)|ovary(2)|skin(1) 9 Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638) CCAGTTGGTCCAGGCTGGAAA 0.522 NA 16 36 0 0 0.004007 0 0 TRPC4 7223 broad.mit.edu 37 13 38266182 38266182 + Silent SNP A A T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr13:38266182A>T uc001uws.2 - 4 1423 c.1188T>A c.(1186-1188)GGT>GGA p.G396G TRPC4_uc010abv.2_Intron|TRPC4_uc001uwt.2_Silent_p.G396G|TRPC4_uc010tey.1_Silent_p.G396G|TRPC4_uc010abw.2_Silent_p.G223G|TRPC4_uc010abx.2_Silent_p.G396G|TRPC4_uc010aby.2_Silent_p.G396G NM_016179 NP_057263 Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, 396 Cytoplasmic (Potential). axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity ovary(3)|skin(2)|breast(1) 6 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) TTGGTGGTGGACCTTGCCTGT 0.433 NA 23 26 0 0 0.00278 0 0 TRPC4 7223 broad.mit.edu 37 13 38266380 38266380 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr13:38266380C>A uc001uws.2 - 4 1225 c.990G>T c.(988-990)ATG>ATT p.M330I TRPC4_uc010abv.2_Intron|TRPC4_uc001uwt.2_Missense_Mutation_p.M330I|TRPC4_uc010tey.1_Missense_Mutation_p.M330I|TRPC4_uc010abw.2_Missense_Mutation_p.M157I|TRPC4_uc010abx.2_Missense_Mutation_p.M330I|TRPC4_uc010aby.2_Missense_Mutation_p.M330I NM_016179 NP_057263 Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, 330 Helical; (Potential). axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity ovary(3)|skin(2)|breast(1) 6 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) AACATGTCACCATCTTCACTG 0.478 NA 6 30 0.00116845 0.00122497 0.001168 1 0 KBTBD6 89890 broad.mit.edu 37 13 41706012 41706012 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr13:41706012C>A uc001uxu.1 - 1 925 c.636G>T c.(634-636)GAG>GAT p.E212D KBTBD6_uc010ace.1_Intron|KBTBD6_uc010tfe.1_Missense_Mutation_p.E146D|uc001uxv.1_5'Flank NM_152903 NP_690867 Q86V97 KBTB6_HUMAN kelch repeat and BTB (POZ) domain-containing 6 212 protein binding ovary(1)|skin(1) 2 Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673) CTGCTAGAGTCTCCTCCCGAA 0.562 NA 17 112 6.49762e-13 8.27592e-13 0.006122 1 0 ENOX1 55068 broad.mit.edu 37 13 43930179 43930179 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr13:43930179C>A uc001uza.3 - 8 999 c.699G>T c.(697-699)AGG>AGT p.R233S ENOX1_uc001uzb.3_Missense_Mutation_p.R233S|ENOX1_uc001uzc.3_Missense_Mutation_p.R233S|ENOX1_uc001uyz.3_5'UTR|ENOX1_uc010tfm.1_Missense_Mutation_p.R46S NM_001127615 NP_001121087 Q8TC92 ENOX1_HUMAN ecto-NOX disulfide-thiol exchanger 1 233 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) GGGCACGCATCCTCTGCTTGC 0.617 NA 20 163 4.96729e-08 5.87338e-08 0.008871 1 0 CCDC70 83446 broad.mit.edu 37 13 52439604 52439604 + Silent SNP G G C rs112168960 TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr13:52439604G>C uc001vfu.3 + 2 386 c.90G>C c.(88-90)GCG>GCC p.A30A uc010tgr.1_RNA NM_031290 NP_112580 Q6NSX1 CCD70_HUMAN coiled-coil domain containing 70 precursor 30 extracellular region|plasma membrane 0 Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;2.4e-08) GGTCCCTGGCGGCATCCTCTC 0.507 NA 19 104 0 0 0.014323 0 0 ATP7B 540 broad.mit.edu 37 13 52511514 52511514 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr13:52511514C>A uc001vfw.2 - 19 4076 c.3919G>T c.(3919-3921)GTG>TTG p.V1307L ATP7B_uc010adv.2_Missense_Mutation_p.V877L|ATP7B_uc001vfx.2_Missense_Mutation_p.V1100L|ATP7B_uc001vfy.2_Missense_Mutation_p.V1196L|ATP7B_uc010tgt.1_Missense_Mutation_p.V1242L|ATP7B_uc010tgu.1_Missense_Mutation_p.V1259L|ATP7B_uc010tgv.1_Missense_Mutation_p.V1229L|ATP7B_uc001vfv.2_Missense_Mutation_p.V579L|ATP7B_uc010tgs.1_Missense_Mutation_p.V518L NM_000053 NP_000044 P35670 ATP7B_HUMAN ATPase, Cu++ transporting, beta polypeptide 1307 Cytoplasmic (Potential). ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) CTAGCCACCACATCCAGCAAA 0.552 NA Wilson_disease 47 58 1.61004e-24 2.21171e-24 0.01441 1 0 KLHL1 57626 broad.mit.edu 37 13 70535449 70535449 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr13:70535449C>A uc001vip.2 - 3 1602 c.808G>T c.(808-810)GCA>TCA p.A270S KLHL1_uc010thm.1_Missense_Mutation_p.A209S NM_020866 NP_065917 Q9NR64 KLHL1_HUMAN kelch-like 1 protein 270 BTB. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding 0 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) CCTGTATATGCAAATTGGACA 0.353 NA 6 15 3.59834e-05 3.94026e-05 0.001168 1 0 KLHL1 57626 broad.mit.edu 37 13 70681521 70681521 + Missense_Mutation SNP T T G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr13:70681521T>G uc001vip.2 - 1 1105 c.311A>C c.(310-312)CAG>CCG p.Q104P KLHL1_uc010thm.1_Missense_Mutation_p.Q104P|ATXN8OS_uc010aej.1_RNA NM_020866 NP_065917 Q9NR64 KLHL1_HUMAN kelch-like 1 protein 104 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding 0 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) AGCCCCTTGCTGCAGCCTCGT 0.453 NA 33 25 0 0 0.010818 0 0 DIS3 22894 broad.mit.edu 37 13 73334716 73334716 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr13:73334716G>A uc001vix.3 - 20 3118 c.2744C>T c.(2743-2745)TCA>TTA p.S915L DIS3_uc001viy.3_Missense_Mutation_p.S885L|DIS3_uc001viz.2_RNA NM_014953 NP_055768 Q9Y2L1 RRP44_HUMAN DIS3 mitotic control isoform a 915 CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing cytosol|exosome (RNase complex)|nucleolus|nucleoplasm 3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding central_nervous_system(1) 1 Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195) GBM - Glioblastoma multiforme(99;0.000181) AAGATTAGATGAGTCTAACAT 0.328 NA Multiple Myeloma(4;0.011) 4 40 0 0 0.001168 0 0 CLN5 1203 broad.mit.edu 37 13 77566091 77566091 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr13:77566091G>C uc001vkc.2 + 1 33 c.5G>C c.(4-6)CGC>CCC p.R2P NM_006493 NP_006484 O75503 CLN5_HUMAN ceroid-lipofuscinosis, neuronal 5 Error:Variant_position_missing_in_O75503_after_alignment brain development|cell death|lysosomal lumen acidification|neuron maturation|protein catabolic process endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm protein binding ovary(1) 1 Acute lymphoblastic leukemia(28;0.205) GBM - Glioblastoma multiforme(99;0.0503) GGTGTCATGCGCCGGAACCTG 0.592 NA 6 9 0 0 0.001168 0 0 MYCBP2 23077 broad.mit.edu 37 13 77765894 77765894 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr13:77765894C>A uc001vkf.2 - 29 3967 c.3876G>T c.(3874-3876)TGG>TGT p.W1292C MYCBP2_uc010aev.2_Missense_Mutation_p.W696C NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 1292 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1) 14 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) ATGCCACATACCACCACCCAG 0.438 NA 14 19 1.5842e-08 1.8979e-08 0.001855 1 0 ABCC4 10257 broad.mit.edu 37 13 95862948 95862948 + Nonsense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr13:95862948G>A uc001vmd.3 - 5 738 c.619C>T c.(619-621)CAG>TAG p.Q207* ABCC4_uc010afk.2_Nonsense_Mutation_p.Q207*|ABCC4_uc001vme.2_Nonsense_Mutation_p.Q207*|ABCC4_uc010tih.1_Nonsense_Mutation_p.Q132*|ABCC4_uc001vmf.2_Nonsense_Mutation_p.Q164*|ABCC4_uc010afl.1_Nonsense_Mutation_p.Q164*|ABCC4_uc010afm.1_Nonsense_Mutation_p.Q220* NM_005845 NP_005836 O15439 MRP4_HUMAN ATP-binding cassette, sub-family C, member 4 207 ABC transmembrane type-1 1.|Helical; (Potential). platelet activation|platelet degranulation integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity central_nervous_system(3)|skin(1) 4 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Cefazolin(DB01327) CAGCTTACCTGATCAAACTTG 0.353 NA 6 50 0 0 0.001168 0 0 COL4A1 1282 broad.mit.edu 37 13 110817207 110817207 + Splice_Site SNP A A T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr13:110817207A>T uc001vqw.3 - 46 4272 c.4150_splice c.e46+1 p.G1384_splice COL4A1_uc010agl.2_Intron NM_001845 NP_001836 P02462 CO4A1_HUMAN alpha 1 type IV collagen preproprotein angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1) 6 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) AAGCCTTCTCACCTTGCTGGC 0.597 NA 4 36 0 0 0.009096 0 0 SOX1 6656 broad.mit.edu 37 13 112722007 112722007 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr13:112722007C>T uc001vsb.1 + 1 95 c.35C>T c.(34-36)TCG>TTG p.S12L NM_005986 NP_005977 O00570 SOX1_HUMAN SRY (sex determining region Y)-box 1 12 chromatin organization nucleus core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity 0 all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231) OV - Ovarian serous cystadenocarcinoma(48;0.132) GACCTGCACTCGCCCGGCGGC 0.567 NA 5 32 0 0 0.000602 0 0 MCF2L 23263 broad.mit.edu 37 13 113719264 113719264 + Silent SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr13:113719264C>T uc001vsu.2 + 7 814 c.792C>T c.(790-792)TTC>TTT p.F264F MCF2L_uc001vsq.2_Silent_p.F264F|MCF2L_uc010tjr.1_Silent_p.F207F|MCF2L_uc001vsr.2_Silent_p.F211F|MCF2L_uc001vss.3_Silent_p.F205F|MCF2L_uc010tjs.1_Silent_p.F205F|MCF2L_uc001vst.1_Silent_p.F169F NM_001112732 NP_001106203 O15068 MCF2L_HUMAN MCF.2 cell line derived transforming 237 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|plasma membrane Rho guanyl-nucleotide exchange factor activity ovary(1)|kidney(1) 2 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;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188) TCGAAAGTTTCGCCCTCATGG 0.577 NA 30 52 0 0 0.010818 0 0 RASA3 22821 broad.mit.edu 37 13 114773076 114773076 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr13:114773076C>G uc001vui.2 - 18 1806 c.1675G>C c.(1675-1677)GAT>CAT p.D559H RASA3_uc010tkk.1_Missense_Mutation_p.D527H|RASA3_uc001vuj.2_Missense_Mutation_p.D176H NM_007368 NP_031394 Q14644 RASA3_HUMAN RAS p21 protein activator 3 559 intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane calcium-release channel activity|metal ion binding|Ras GTPase activator activity lung(3)|skin(1) 4 Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188) BRCA - Breast invasive adenocarcinoma(86;0.128) GAAATCAGATCCAAGAACTAA 0.438 NA 8 51 0 0 0.004482 0 0 CHD8 57680 broad.mit.edu 37 14 21860668 21860668 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr14:21860668C>G uc001was.1 - 34 6026 c.5932G>C c.(5932-5934)GAT>CAT p.D1978H CHD8_uc001war.1_Missense_Mutation_p.D1874H|SNORD9_uc001wat.1_5'Flank NM_020920 NP_065971 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 2257 ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1) 10 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) GAGCTTACATCTTTGATTTGA 0.463 NA 21 110 0 0 0.012319 0 0 OR4E2 26686 broad.mit.edu 37 14 22133522 22133522 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr14:22133522G>T uc010tmd.1 + 1 226 c.226G>T c.(226-228)GTC>TTC p.V76F NM_001001912 NP_001001912 Q8NGC2 OR4E2_HUMAN olfactory receptor, family 4, subfamily E, 76 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1)|skin(1) 4 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0137) CCACTCATCTGTCACTGTGCC 0.433 NA 35 180 1.62565e-12 2.06332e-12 0.012213 1 0 NGDN 25983 broad.mit.edu 37 14 23945466 23945466 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr14:23945466G>C uc001wjy.2 + 8 590 c.563G>C c.(562-564)CGG>CCG p.R188P NGDN_uc001wjz.2_Missense_Mutation_p.R188P|NGDN_uc001wka.2_RNA NM_001042635 NP_001036100 Q8NEJ9 NGDN_HUMAN neuroguidin isoform 1 188 Potential. regulation of translation axon|cytoplasm|dendrite|filopodium|nucleus 0 all_cancers(95;0.000251) GBM - Glioblastoma multiforme(265;0.00654) GAAGCTGAGCGGGAGAAGAAG 0.468 NA 9 55 0 0 0.006214 0 0 IRF9 10379 broad.mit.edu 37 14 24631533 24631533 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr14:24631533G>T uc001wmq.2 + 2 307 c.180G>T c.(178-180)AAG>AAT p.K60N RNF31_uc001wmp.2_RNA|IRF9_uc010alj.2_5'Flank NM_006084 NP_006075 Q00978 IRF9_HUMAN interferon-stimulated transcription factor 3, 60 IRF tryptophan pentad repeat. interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytosol|nucleoplasm DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 GBM - Glioblastoma multiforme(265;0.00853) CCTTCTTCAAGGTGAAAGGGC 0.532 NA 19 70 2.5808e-16 3.41597e-16 0.006122 1 0 KHNYN 23351 broad.mit.edu 37 14 24901483 24901483 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr14:24901483G>T uc001wph.3 + 3 1218 c.1016G>T c.(1015-1017)CGA>CTA p.R339L KHNYN_uc010tpc.1_Missense_Mutation_p.R380L|KHNYN_uc010alw.2_Missense_Mutation_p.R339L|CBLN3_uc001wpg.3_5'Flank NM_015299 NP_056114 O15037 KHNYN_HUMAN hypothetical protein LOC23351 339 ovary(2)|liver(1) 3 GCTCAGTCCCGAGGAGCCTCC 0.667 NA OREG0022627 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 41 61 3.05275e-18 4.08157e-18 0.013114 1 0 NOVA1 4857 broad.mit.edu 37 14 26917884 26917884 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr14:26917884C>G uc001wpy.2 - 5 1123 c.805G>C c.(805-807)GGA>CGA p.G269R NOVA1_uc001wpz.2_Missense_Mutation_p.G245R|NOVA1_uc001wqa.2_Missense_Mutation_p.G147R NM_002515 NP_002506 P51513 NOVA1_HUMAN neuro-oncological ventral antigen 1 isoform 1 272 locomotory behavior|RNA splicing|synaptic transmission nucleus RNA binding skin(2)|upper_aerodigestive_tract(1)|breast(1)|liver(1) 5 GBM - Glioblastoma multiforme(265;0.0135) TAAGGAGATCCGGTTGGATTG 0.483 NA 14 64 0 0 0.003163 0 0 NPAS3 64067 broad.mit.edu 37 14 34269356 34269356 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr14:34269356C>G uc001wru.2 + 12 1907 c.1843C>G c.(1843-1845)CGG>GGG p.R615G NPAS3_uc001wrs.2_Missense_Mutation_p.R602G|NPAS3_uc001wrt.2_Missense_Mutation_p.R583G|NPAS3_uc001wrv.2_Missense_Mutation_p.R585G NM_173159 NP_071406 Q8IXF0 NPAS3_HUMAN neuronal PAS domain protein 3 isoform 3 615 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity ovary(1)|skin(1) 2 Breast(36;0.0102)|Hepatocellular(127;0.133) LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968) GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115) CGCCAGCCGCCGGCGCCTGTC 0.721 NA 8 15 0 0 0.004482 0 0 CLEC14A 161198 broad.mit.edu 37 14 38724115 38724115 + Silent SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr14:38724115G>T uc001wum.1 - 1 1460 c.1113C>A c.(1111-1113)ACC>ACA p.T371T NM_175060 NP_778230 Q86T13 CLC14_HUMAN C-type lectin domain family 14, member A 371 Extracellular (Potential). integral to membrane sugar binding ovary(3)|skin(1) 4 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;0.00439) TCCCTGATGGGGTGATAGTGG 0.488 NA 9 45 1.76689e-08 2.10981e-08 0.006214 1 0 LRFN5 145581 broad.mit.edu 37 14 42355849 42355849 + Nonsense_Mutation SNP T T A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr14:42355849T>A uc001wvm.2 + 3 1219 c.21T>A c.(19-21)TAT>TAA p.Y7* LRFN5_uc010ana.2_Nonsense_Mutation_p.Y7* NM_152447 NP_689660 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III 7 integral to membrane ovary(5)|pancreas(2)|central_nervous_system(1) 8 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) TTCTTTTTTATCTGTTTCTCA 0.363 NA HNSCC(30;0.082) 6 15 0 0 0.001984 0 0 KLHL28 54813 broad.mit.edu 37 14 45415050 45415050 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr14:45415050G>C uc001wvq.2 - 2 328 c.82C>G c.(82-84)CTT>GTT p.L28V KLHL28_uc001wvr.2_Missense_Mutation_p.L28V|KLHL28_uc001wvt.3_Missense_Mutation_p.L28V NM_017658 NP_060128 Q9NXS3 KLH28_HUMAN BTB (POZ) domain containing 5 28 ovary(1) 1 TGTTGGCGAAGAAGATTCAAG 0.433 NA 4 34 0 0 0.009096 0 0 FANCM 57697 broad.mit.edu 37 14 45644332 45644332 + Nonsense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr14:45644332C>G uc001wwd.3 + 14 2474 c.2375C>G c.(2374-2376)TCA>TGA p.S792* FANCM_uc010anf.2_Nonsense_Mutation_p.S766*|FANCM_uc001wwe.3_Nonsense_Mutation_p.S328*|FANCM_uc010ang.2_Nonsense_Mutation_p.S6* NM_020937 NP_065988 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 792 DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding ovary(3)|lung(2)|breast(2) 7 GATGTTACCTCAACATTTATT 0.328 NA Involved_in_tolerance_or_repair_of_DNA_crosslinks FanconAnemia 6 24 0 0 0.001984 0 0 NIN 51199 broad.mit.edu 37 14 51226916 51226916 + Silent SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr14:51226916G>C uc001wym.2 - 17 2249 c.2058C>G c.(2056-2058)CTC>CTG p.L686L NIN_uc001wyi.2_Silent_p.L686L|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Silent_p.L686L|NIN_uc010tqp.1_Silent_p.L692L|NIN_uc001wyo.2_Silent_p.L686L NM_182946 NP_891991 Q8N4C6 NIN_HUMAN ninein isoform 5 686 Potential. centrosome localization centrosome|microtubule calcium ion binding|GTP binding|protein binding skin(3)|ovary(1)|kidney(1)|central_nervous_system(1) 6 all_epithelial(31;0.00244)|Breast(41;0.127) GTGCCTCCTTGAGCACTGCTG 0.458 NA T PDGFRB MPD 7 178 0 0 0.001984 0 0 PTGER2 5732 broad.mit.edu 37 14 52781297 52781297 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr14:52781297G>A uc001wzr.2 + 1 282 c.31G>A c.(31-33)GAG>AAG p.E11K NM_000956 NP_000947 P43116 PE2R2_HUMAN prostaglandin E receptor 2 (subtype EP2), 53kDa 11 Extracellular (Potential). integral to plasma membrane prostaglandin E receptor activity lung(1)|breast(1) 2 Breast(41;0.0639)|all_epithelial(31;0.0729) Alprostadil(DB00770)|Iloprost(DB01088) CTCCCAGTCTGAGGACTGCGA 0.627 NA 7 81 0 0 0.00308 0 0 DACT1 51339 broad.mit.edu 37 14 59112366 59112366 + Missense_Mutation SNP T T A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr14:59112366T>A uc001xdw.2 + 4 1189 c.1025T>A c.(1024-1026)ATT>AAT p.I342N DACT1_uc010trv.1_Missense_Mutation_p.I61N|DACT1_uc001xdx.2_Missense_Mutation_p.I305N|DACT1_uc010trw.1_Missense_Mutation_p.I61N NM_016651 NP_057735 Q9NYF0 DACT1_HUMAN dapper 1 isoform 1 342 multicellular organismal development|Wnt receptor signaling pathway cytoplasm|nucleus large_intestine(2)|lung(2)|ovary(1) 5 GATGGCTACATTCTGAGCCTG 0.517 NA 31 26 0 0 0.008361 0 0 MNAT1 4331 broad.mit.edu 37 14 61201638 61201638 + Nonsense_Mutation SNP A A T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr14:61201638A>T uc001xfd.2 + 1 169 c.58A>T c.(58-60)AAG>TAG p.K20* MNAT1_uc010apq.1_Nonsense_Mutation_p.K20*|MNAT1_uc001xfe.2_Nonsense_Mutation_p.K20* NM_002431 NP_002422 P51948 MAT1_HUMAN menage a trois 1 (CAK assembly factor) 20 RING-type. cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein complex assembly|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction cytoplasm|holo TFIIH complex protein N-terminus binding|zinc ion binding ovary(1)|lung(1) 2 OV - Ovarian serous cystadenocarcinoma(108;0.0174) CCCCTCCTTGAAGCTGATGGT 0.602 NA Direct_reversal_of_damage|NER 12 74 0 0 0.010729 0 0 KIAA0247 9766 broad.mit.edu 37 14 70170156 70170156 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr14:70170156C>T uc001xlk.2 + 3 482 c.166C>T c.(166-168)CAC>TAC p.H56Y KIAA0247_uc010aqz.2_Missense_Mutation_p.H31Y NM_014734 NP_055549 Q92537 K0247_HUMAN hypothetical protein LOC9766 precursor 56 Sushi.|Extracellular (Potential). integral to membrane ovary(3) 3 all cancers(60;0.00155)|BRCA - Breast invasive adenocarcinoma(234;0.0164)|OV - Ovarian serous cystadenocarcinoma(108;0.0196) CTACATCTGCCACCCCCGGCC 0.572 NA 15 155 0 0 0.003163 0 0 MAP3K9 4293 broad.mit.edu 37 14 71199455 71199455 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr14:71199455G>C uc001xmm.2 - 11 2631 c.2631C>G c.(2629-2631)CAC>CAG p.H877Q MAP3K9_uc010ttk.1_Missense_Mutation_p.H605Q|MAP3K9_uc001xmk.2_Missense_Mutation_p.H610Q|MAP3K9_uc001xml.2_Missense_Mutation_p.H891Q NM_033141 NP_149132 P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 877 Pro-rich. activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity stomach(2)|lung(1)|central_nervous_system(1)|skin(1) 5 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) CCAGGGGGTTGTGGGTACATG 0.592 GBM(114;411 1587 13539 28235 50070) NA 4 169 0 0 0.000602 0 0 MAP3K9 4293 broad.mit.edu 37 14 71227747 71227747 + Missense_Mutation SNP T T A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr14:71227747T>A uc001xmm.2 - 3 973 c.973A>T c.(973-975)ATG>TTG p.M325L MAP3K9_uc010ttk.1_Missense_Mutation_p.M62L|MAP3K9_uc001xmk.2_Missense_Mutation_p.M19L|MAP3K9_uc001xml.2_Missense_Mutation_p.M325L NM_033141 NP_149132 P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 325 Protein kinase. activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity stomach(2)|lung(1)|central_nervous_system(1)|skin(1) 5 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) TTGGAAAACATGGAGGCCCGG 0.557 GBM(114;411 1587 13539 28235 50070) NA 81 71 0 0 0.01441 0 0 DPF3 8110 broad.mit.edu 37 14 73190390 73190390 + Missense_Mutation SNP T T C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr14:73190390T>C uc001xnc.2 - 5 489 c.476A>G c.(475-477)GAG>GGG p.E159G DPF3_uc001xnd.1_RNA|DPF3_uc001xnf.2_RNA|DPF3_uc010ari.1_Missense_Mutation_p.E159G|DPF3_uc010ttq.1_Missense_Mutation_p.E169G NM_012074 NP_036206 Q92784 DPF3_HUMAN D4, zinc and double PHD fingers, family 3 159 chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nBAF complex nucleic acid binding|zinc ion binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654) TTCCAAATCCTCTTCTTCATT 0.418 NA 116 115 0 0 0.01441 0 0 YLPM1 56252 broad.mit.edu 37 14 75265292 75265292 + Nonsense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr14:75265292C>T uc001xqj.3 + 5 3416 c.3292C>T c.(3292-3294)CAA>TAA p.Q1098* YLPM1_uc001xql.3_RNA NM_019589 NP_062535 P49750 YLPM1_HUMAN YLP motif containing 1 903 Arg-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck ovary(2)|pancreas(1) 3 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) AGGTGGTCTTCAAGGGAGCCA 0.602 NA 49 42 0 0 0.01441 0 0 NEK9 91754 broad.mit.edu 37 14 75563845 75563845 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr14:75563845G>A uc001xrl.2 - 17 2285 c.2131C>T c.(2131-2133)CCG>TCG p.P711S NEK9_uc001xrk.2_Missense_Mutation_p.P211S NM_033116 NP_149107 Q8TD19 NEK9_HUMAN NIMA-related kinase 9 711 RCC1 6. cell division|mitosis mitochondrion|nucleus ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity lung(2)|stomach(2)|ovary(1) 5 BRCA - Breast invasive adenocarcinoma(234;0.00718) GACAGGTCCGGGACATGATGC 0.522 NA 10 83 0 0 0.006214 0 0 TTLL5 23093 broad.mit.edu 37 14 76211508 76211508 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr14:76211508C>T uc001xrx.2 + 16 1557 c.1352C>T c.(1351-1353)CCA>CTA p.P451L TTLL5_uc010ask.1_Missense_Mutation_p.P465L|TTLL5_uc001xrz.2_Missense_Mutation_p.P13L|TTLL5_uc001xry.1_RNA NM_015072 NP_055887 Q6EMB2 TTLL5_HUMAN tubulin tyrosine ligase-like family, member 5 451 protein modification process|transcription, DNA-dependent centrosome|cilium|microtubule basal body|nucleus tubulin-tyrosine ligase activity ovary(2)|central_nervous_system(1) 3 BRCA - Breast invasive adenocarcinoma(234;0.029) GAGAAAGGGCCAGGGAAGTTG 0.453 NA 21 31 0 0 0.012319 0 0 TTLL5 23093 broad.mit.edu 37 14 76243112 76243112 + Missense_Mutation SNP A A G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr14:76243112A>G uc001xrx.2 + 23 2511 c.2306A>G c.(2305-2307)AAG>AGG p.K769R TTLL5_uc010ask.1_Missense_Mutation_p.K783R|TTLL5_uc001xrz.2_Missense_Mutation_p.K344R|TTLL5_uc001xry.1_RNA NM_015072 NP_055887 Q6EMB2 TTLL5_HUMAN tubulin tyrosine ligase-like family, member 5 769 protein modification process|transcription, DNA-dependent centrosome|cilium|microtubule basal body|nucleus tubulin-tyrosine ligase activity ovary(2)|central_nervous_system(1) 3 BRCA - Breast invasive adenocarcinoma(234;0.029) ATGGCTGAAAAGAAATCAAAG 0.378 NA 30 20 0 0 0.010818 0 0 ESRRB 2103 broad.mit.edu 37 14 76966335 76966335 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr14:76966335C>A uc001xsr.2 + 10 1797 c.1426C>A c.(1426-1428)CGC>AGC p.R476S ESRRB_uc001xso.2_RNA NM_004452 NP_004443 A2VDJ2 A2VDJ2_HUMAN estrogen-related receptor beta 476 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(234;0.0213) CCCCAATCCACGCCCTTCTAG 0.537 NA 9 4 0.00448238 0.00463893 0.004482 1 0 GPR65 8477 broad.mit.edu 37 14 88477258 88477258 + Missense_Mutation SNP T T C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr14:88477258T>C uc001xvv.2 + 2 597 c.67T>C c.(67-69)TTT>CTT p.F23L NM_003608 NP_003599 Q8IYL9 PSYR_HUMAN G protein-coupled receptor 65 23 Helical; Name=1; (Potential). actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity integral to plasma membrane G-protein coupled receptor activity 0 TGTTTACATCTTTGTGATTAT 0.358 NA 3 39 0 0 0.004672 0 0 CPSF2 53981 broad.mit.edu 37 14 92609541 92609541 + Missense_Mutation SNP A A T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr14:92609541A>T uc001yah.1 + 9 1280 c.1043A>T c.(1042-1044)GAC>GTC p.D348V NM_017437 NP_059133 Q9P2I0 CPSF2_HUMAN cleavage and polyadenylation specific factor 2 348 histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex hydrolase activity|protein binding|RNA binding ovary(2) 2 all_cancers(154;0.0766) COAD - Colon adenocarcinoma(157;0.222) TGGTGTCAGGACCCTAAAAAC 0.423 Ovarian(78;28 1788 18702 44111) NA 5 22 0 0 0.000602 0 0 KIAA1409 57578 broad.mit.edu 37 14 94083525 94083525 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr14:94083525C>A uc001ybv.1 + 26 3717 c.3634C>A c.(3634-3636)CTC>ATC p.L1212I KIAA1409_uc001ybs.1_Missense_Mutation_p.L1190I NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 1367 integral to membrane ovary(10)|skin(4)|large_intestine(3) 17 all_cancers(154;0.0354)|all_epithelial(191;0.216) Epithelial(152;0.188) GGTTCAGGTGCTCAAATACTG 0.433 NA 12 54 1.61879e-10 1.99532e-10 0.013537 1 0 KIAA1409 57578 broad.mit.edu 37 14 94083609 94083609 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr14:94083609C>T uc001ybv.1 + 26 3801 c.3718C>T c.(3718-3720)CGG>TGG p.R1240W KIAA1409_uc001ybs.1_Missense_Mutation_p.R1218W NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 1395 integral to membrane ovary(10)|skin(4)|large_intestine(3) 17 all_cancers(154;0.0354)|all_epithelial(191;0.216) Epithelial(152;0.188) GCCTCACATCCGGCAGATGTG 0.502 NA 13 48 0 0 0.001855 0 0 SERPINA9 327657 broad.mit.edu 37 14 94936017 94936017 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr14:94936017C>A uc001ydf.2 - 2 376 c.215G>T c.(214-216)CGC>CTC p.R72L SERPINA9_uc001yde.2_Missense_Mutation_p.R72L|SERPINA9_uc010avc.2_Intron|SERPINA9_uc001ydg.2_Intron|SERPINA9_uc001ydh.1_Missense_Mutation_p.R72L|SERPINA9_uc001ydi.1_Intron NM_175739 NP_783866 Q86WD7 SPA9_HUMAN serine (or cysteine) proteinase inhibitor, clade 54 regulation of proteolysis cytoplasm|extracellular region|membrane serine-type endopeptidase inhibitor activity lung(1)|central_nervous_system(1) 2 all_cancers(154;0.0691)|all_epithelial(191;0.233) Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24) GCGGTATAGGCGGAAGGCAAA 0.607 NA 18 54 2.94398e-08 3.5067e-08 0.007413 1 0 TCL6 27004 broad.mit.edu 37 14 96135898 96135899 + Missense_Mutation DNP AG AG TT rs76461999 TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 AG AG - - AG AG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr14:96135898_96135899AG>TT uc001yeq.2 + 5 1671_1672 c.202_203AG>TT c.(202-204)AGG>TTG p.R68L TCL6_uc001yep.1_RNA|TCL6_uc001yes.2_3'UTR|TCL6_uc001yet.1_Missense_Mutation_p.R10L|TCL6_uc001yeu.2_3'UTR|TCL6_uc001yev.2_3'UTR|TCL1B_uc001yew.2_RNA|TCL1B_uc001yex.2_RNA|TCL1B_uc010avj.2_Intron|TCL6_uc010avk.1_5'Flank NM_020554 NP_065579 SubName: Full=T-cell leukemia/lymphoma 6 ORF163; 0 all_cancers(154;0.103) Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207) gttagaagcaaggcacaagtca 0.005 NA T TRA@ T-ALL 5 27 0 0 0.004672 0 0 BCL11B 64919 broad.mit.edu 37 14 99642483 99642483 + Silent SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr14:99642483G>A uc001yga.2 - 4 957 c.690C>T c.(688-690)TTC>TTT p.F230F BCL11B_uc001ygb.2_Silent_p.F159F NM_138576 NP_612808 Q9C0K0 BC11B_HUMAN B-cell CLL/lymphoma 11B isoform 1 230 C2H2-type 1. nucleus zinc ion binding central_nervous_system(8)|large_intestine(1)|lung(1) 10 Melanoma(154;0.0866)|all_epithelial(191;0.241) COAD - Colon adenocarcinoma(157;0.103) ACGCGCTGTTGAAGGGCTGCT 0.622 NA T TLX3 T-ALL 8 27 0 0 0.00308 0 0 AHNAK2 113146 broad.mit.edu 37 14 105408231 105408231 + Silent SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr14:105408231G>A uc010axc.1 - 7 13677 c.13557C>T c.(13555-13557)GAC>GAT p.D4519D AHNAK2_uc001ypx.2_Silent_p.D4419D NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 4519 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) GGACCTCCAGGTCGGCGGAAG 0.622 NA 38 146 0 0 0.004289 0 0 AHNAK2 113146 broad.mit.edu 37 14 105416868 105416868 + Silent SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr14:105416868C>G uc010axc.1 - 7 5040 c.4920G>C c.(4918-4920)CTG>CTC p.L1640L AHNAK2_uc001ypx.2_Silent_p.L1540L NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 1640 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) GGTCCCCCTCCAGCTGCGCAC 0.602 NA 58 239 0 0 0.01441 0 0 AHNAK2 113146 broad.mit.edu 37 14 105419147 105419147 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr14:105419147G>T uc010axc.1 - 7 2761 c.2641C>A c.(2641-2643)CTC>ATC p.L881I AHNAK2_uc001ypx.2_Missense_Mutation_p.L781I NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 881 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) TGAATGCTGAGGTCAGTGGCC 0.652 NA 66 250 2.165e-29 3.01398e-29 0.01441 1 0 OR4M2 390538 broad.mit.edu 37 15 22369243 22369243 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr15:22369243C>A uc010tzu.1 + 1 668 c.668C>A c.(667-669)GCC>GAC p.A223D LOC727924_uc001yua.2_Intron|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron NM_001004719 NP_001004719 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, 223 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) TTCCTTCTGGCCTTGTTCAAG 0.478 NA 21 95 1.15919e-05 1.28779e-05 0.008871 1 0 GOLGA8DP 100132979 broad.mit.edu 37 15 22709206 22709206 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr15:22709206G>A uc010axw.2 - 11 1191 c.293C>T c.(292-294)CCC>CTC p.P98L GOLGA8DP_uc010axx.2_Missense_Mutation_p.P98L|uc010tzw.1_5'Flank NM_001012423 NP_001012423 golgi autoantigen, golgin subfamily a, 8E 0 CACCTCAGAGGGCACTGCTGG 0.493 NA 6 71 0 0 0.004482 0 0 TUBGCP5 114791 broad.mit.edu 37 15 22855270 22855270 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr15:22855270C>G uc001yur.3 + 13 1861 c.1731C>G c.(1729-1731)AGC>AGG p.S577R TUBGCP5_uc001yuq.2_Missense_Mutation_p.S577R|TUBGCP5_uc010axz.1_Missense_Mutation_p.S164R NM_052903 NP_443135 Q96RT8 GCP5_HUMAN tubulin, gamma complex associated protein 5 577 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding skin(1) 1 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949) GTGCGGAGAGCACCACCTGCC 0.557 NA 4 20 0 0 0.009096 0 0 PLA2G4E 123745 broad.mit.edu 37 15 42285002 42285002 + Missense_Mutation SNP T T C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr15:42285002T>C uc001zow.1 - 12 1316 c.1316A>G c.(1315-1317)CAG>CGG p.Q439R PLA2G4E_uc010udc.1_5'UTR|PLA2G4E_uc001zov.1_Missense_Mutation_p.Q92R NM_001080490 NP_001073959 Q3MJ16 PA24E_HUMAN phospholipase A2, group 4E 456 PLA2c. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity 0 all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273) OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06) GTAGCCTTCCTGGCTGCGCTG 0.607 NA 3 58 0 0 0.004672 0 0 DUOX2 50506 broad.mit.edu 37 15 45397883 45397883 + Silent SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr15:45397883C>G uc010bea.2 - 18 2495 c.2292G>C c.(2290-2292)CGG>CGC p.R764R DUOX2_uc001zun.2_Silent_p.R764R NM_014080 NP_054799 Q9NRD8 DUOX2_HUMAN dual oxidase 2 precursor 764 Cytoplasmic (Potential). cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity ovary(2)|skin(2)|pancreas(1) 5 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) GGATGCGTTCCCGCTGCTGCT 0.557 NA 39 61 0 0 0.005524 0 0 FBN1 2200 broad.mit.edu 37 15 48712914 48712914 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr15:48712914G>A uc001zwx.1 - 63 8117 c.7789C>T c.(7789-7791)CTC>TTC p.L2597F FBN1_uc010beo.1_RNA NM_000138 NP_000129 P35555 FBN1_HUMAN fibrillin 1 precursor 2597 EGF-like 45; calcium-binding. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding ovary(2)|large_intestine(1) 3 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) TAGTGCTGGAGGTAGCCCTGG 0.527 NA 5 54 0 0 0.000602 0 0 FBN1 2200 broad.mit.edu 37 15 48805800 48805800 + Missense_Mutation SNP T T G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr15:48805800T>G uc001zwx.1 - 13 1862 c.1534A>C c.(1534-1536)ACC>CCC p.T512P NM_000138 NP_000129 P35555 FBN1_HUMAN fibrillin 1 precursor 512 EGF-like 7; calcium-binding. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding ovary(2)|large_intestine(1) 3 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) CACTGACAGGTGTACGAACCC 0.473 NA 7 35 0 0 0.00308 0 0 CEP152 22995 broad.mit.edu 37 15 49059596 49059597 + Missense_Mutation DNP CT CT TA TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 CT CT - - CT CT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr15:49059596_49059597CT>TA uc001zwy.2 - 16 2116_2117 c.2082_2083AG>TA c.(2080-2085)TTAGCA>TTTACA p.694_695LA>FT CEP152_uc001zwz.2_Missense_Mutation_p.694_695LA>FT|CEP152_uc001zxa.1_Missense_Mutation_p.601_602LA>FT NM_014985 NP_055800 O94986 CE152_HUMAN centrosomal protein 152kDa 694_695 centrosome duplication|G2/M transition of mitotic cell cycle centrosome|cytosol protein kinase binding lung(2) 2 all_lung(180;0.0428) all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06) GCATGCTTTGCTAATAGGCTTT 0.436 NA 7 16 0 0 0.004672 0 0 GALK2 2585 broad.mit.edu 37 15 49611952 49611952 + Silent SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr15:49611952C>T uc001zxj.1 + 9 1217 c.1119C>T c.(1117-1119)GAC>GAT p.D373D GALK2_uc001zxi.1_Silent_p.D362D|GALK2_uc010ufb.1_Silent_p.D349D|GALK2_uc001zxk.2_RNA|GALK2_uc010ufc.1_Silent_p.D349D NM_002044 NP_002035 Q01415 GALK2_HUMAN galactokinase 2 isoform 1 373 galactose metabolic process cytoplasm ATP binding|galactokinase activity|N-acetylgalactosamine kinase activity breast(1) 1 all_lung(180;0.000325) all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05) GCTGCCGGGACATGTATGAGT 0.532 NA 9 22 0 0 0.006214 0 0 HDC 3067 broad.mit.edu 37 15 50534774 50534775 + Missense_Mutation DNP GG GG TT TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr15:50534774_50534775GG>TT uc001zxz.2 - 12 1777_1778 c.1671_1672CC>AA c.(1669-1674)GCCCCA>GCAACA p.P558T HDC_uc001zxy.2_Missense_Mutation_p.P301T|HDC_uc010uff.1_Missense_Mutation_p.P525T NM_002112 NP_002103 P19113 DCHS_HUMAN histidine decarboxylase 558 catecholamine biosynthetic process|histidine metabolic process histidine decarboxylase activity large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 6 all_lung(180;0.0138) all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05) L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114) GTGGCATCTGGGGCCTCTTCTG 0.545 GBM(95;1627 1936 6910 9570) NA 50 109 0 0 0.004672 0 0 HDC 3067 broad.mit.edu 37 15 50540459 50540459 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr15:50540459G>C uc001zxz.2 - 10 1229 c.1123C>G c.(1123-1125)CAA>GAA p.Q375E HDC_uc001zxy.2_Missense_Mutation_p.Q118E|HDC_uc010uff.1_Intron NM_002112 NP_002103 P19113 DCHS_HUMAN histidine decarboxylase 375 catecholamine biosynthetic process|histidine metabolic process histidine decarboxylase activity large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 6 all_lung(180;0.0138) all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05) L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114) ACATGTGCTTGAAGATTCTTC 0.507 GBM(95;1627 1936 6910 9570) NA 5 11 0 0 0.001168 0 0 HDC 3067 broad.mit.edu 37 15 50555455 50555455 + Missense_Mutation SNP T T A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr15:50555455T>A uc001zxz.2 - 2 287 c.181A>T c.(181-183)ATT>TTT p.I61F HDC_uc010uff.1_Missense_Mutation_p.I61F|HDC_uc010bet.1_Missense_Mutation_p.I61F|HDC_uc010beu.1_Missense_Mutation_p.I61F NM_002112 NP_002103 P19113 DCHS_HUMAN histidine decarboxylase 61 catecholamine biosynthetic process|histidine metabolic process histidine decarboxylase activity large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 6 all_lung(180;0.0138) all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05) L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114) ATTCGTTCAATGTCCCCAAAG 0.597 GBM(95;1627 1936 6910 9570) NA 50 138 0 0 0.01441 0 0 LYSMD2 256586 broad.mit.edu 37 15 52017224 52017224 + Missense_Mutation SNP A A G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr15:52017224A>G uc002abi.2 - 2 869 c.368T>C c.(367-369)TTG>TCG p.L123S LYSMD2_uc002abj.2_Missense_Mutation_p.L32S NM_153374 NP_699205 Q8IV50 LYSM2_HUMAN LysM, putative peptidoglycan-binding, domain 123 cell wall macromolecule catabolic process 0 all cancers(107;0.00258) ATTAAACAACAAAGGCTTCTC 0.383 NA 11 26 0 0 0.008291 0 0 TEX9 374618 broad.mit.edu 37 15 56681599 56681599 + Splice_Site SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr15:56681599G>A uc002adp.2 + 6 400 c.395_splice c.e6+1 p.S132_splice TEX9_uc002ado.1_Splice_Site_p.S132_splice|TEX9_uc010ugl.1_Splice_Site_p.S57_splice|TEX9_uc002adq.1_Splice_Site_p.S57_splice NM_198524 NP_940926 Q8N6V9 TEX9_HUMAN testis expressed 9 0 all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056) CAAATTCAAGGTATAGTATAG 0.274 NA 3 5 0 0 0.004672 0 0 ADAM10 102 broad.mit.edu 37 15 58957351 58957351 + Nonsense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr15:58957351G>C uc002afd.1 - 5 974 c.530C>G c.(529-531)TCA>TGA p.S177* ADAM10_uc010bgc.1_RNA|ADAM10_uc010ugz.1_Intron|ADAM10_uc002afe.1_Intron|ADAM10_uc002afg.2_Nonsense_Mutation_p.S177* NM_001110 NP_001101 O14672 ADA10_HUMAN ADAM metallopeptidase domain 10 precursor 177 Cysteine switch (By similarity).|Extracellular (Potential). cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding skin(2) 2 GBM - Glioblastoma multiforme(80;0.202) TTCAAATACTGAATGATCTGC 0.368 NA 6 42 0 0 0.001168 0 0 VPS13C 54832 broad.mit.edu 37 15 62212764 62212764 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr15:62212764G>T uc002agz.2 - 56 7219 c.7145C>A c.(7144-7146)TCT>TAT p.S2382Y VPS13C_uc002aha.2_Missense_Mutation_p.S2339Y|VPS13C_uc002ahb.1_Missense_Mutation_p.S2382Y|VPS13C_uc002ahc.1_Missense_Mutation_p.S2339Y|VPS13C_uc002ahd.1_5'Flank NM_020821 NP_065872 Q709C8 VP13C_HUMAN vacuolar protein sorting 13C protein isoform 2A 2382 protein localization ovary(2) 2 ATTTCCTGAAGAAATATGAAT 0.308 NA 3 13 6.4e-05 6.95722e-05 0.004672 1 0 IGDCC4 57722 broad.mit.edu 37 15 65676637 65676637 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr15:65676637G>T uc002aou.1 - 20 3673 c.3463C>A c.(3463-3465)CCT>ACT p.P1155T IGDCC4_uc002aot.1_Missense_Mutation_p.P743T NM_020962 NP_066013 Q8TDY8 IGDC4_HUMAN immunoglobulin superfamily, DCC subclass, member 1155 Cytoplasmic (Potential). integral to membrane|plasma membrane ovary(1)|pancreas(1)|skin(1) 3 GGGTCCTCAGGCTCCAGGTCT 0.612 NA 19 60 8.28177e-16 1.08825e-15 0.007413 1 0 TLE3 7090 broad.mit.edu 37 15 70342515 70342515 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr15:70342515C>T uc002asm.2 - 20 3359 c.2240G>A c.(2239-2241)TGT>TAT p.C747Y TLE3_uc002ask.2_Missense_Mutation_p.C674Y|TLE3_uc002asl.2_Missense_Mutation_p.C747Y|TLE3_uc010ukd.1_Missense_Mutation_p.C737Y|TLE3_uc010bik.1_Missense_Mutation_p.C328Y|TLE3_uc010bil.1_Missense_Mutation_p.C744Y|TLE3_uc002asn.2_Missense_Mutation_p.C735Y|TLE3_uc002asp.2_Missense_Mutation_p.C739Y|TLE3_uc002aso.2_Missense_Mutation_p.C742Y NM_005078 NP_005069 Q04726 TLE3_HUMAN transducin-like enhancer protein 3 isoform a 747 WD 7. organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding|protein binding lung(2) 2 TGAAATGTCACAACTCAAGAC 0.473 NA 32 79 0 0 0.013726 0 0 MYO9A 4649 broad.mit.edu 37 15 72122611 72122611 + Silent SNP C C A rs146276674 byFrequency TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr15:72122611C>A uc002atl.3 - 40 7352 c.6879G>T c.(6877-6879)TCG>TCT p.S2293S MYO9A_uc002atj.2_Silent_p.S224S|MYO9A_uc002atk.2_Silent_p.S1088S NM_006901 NP_008832 B2RTY4 MYO9A_HUMAN myosin IXA 2293 Tail. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity ovary(1)|pancreas(1)|skin(1) 3 CAACAGGAGACGATGGACCTG 0.468 NA 3 45 6.4e-05 6.95722e-05 0.004672 1 0 CD276 80381 broad.mit.edu 37 15 73991925 73991925 + Splice_Site SNP A A G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr15:73991925A>G uc002avv.1 + 2 181 c.-53_splice c.e2-2 CD276_uc010bjd.1_Intron|CD276_uc002avu.1_Splice_Site|CD276_uc002avw.1_Splice_Site|CD276_uc010ulb.1_Splice_Site NM_001024736 NP_001019907 Q5ZPR3 CD276_HUMAN CD276 antigen isoform a cell proliferation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of T cell proliferation|regulation of immune response|T cell activation external side of plasma membrane|integral to membrane receptor binding skin(1) 1 TCTTTCTCCCAGGCAGGGGCA 0.637 NA 3 12 0 0 0.004672 0 0 CYP1A1 1543 broad.mit.edu 37 15 75014861 75014861 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr15:75014861G>A uc002ayp.3 - 2 700 c.578C>T c.(577-579)TCA>TTA p.S193L CYP1A1_uc010bjv.2_Intron|CYP1A1_uc010bjw.2_Intron|CYP1A1_uc010bju.2_5'UTR|CYP1A1_uc010bjx.2_Intron|CYP1A1_uc002ayq.3_Missense_Mutation_p.S193L|CYP1A1_uc010bjy.2_Missense_Mutation_p.S193L|CYP1A1_uc010bjz.1_5'UTR NM_000499 NP_000490 P04798 CP1A1_HUMAN cytochrome P450, family 1, subfamily A, 193 cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity ovary(2)|breast(2)|pancreas(1) 5 Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730) ATTGGTCACTGATACCACCAC 0.517 NA Endometrial_Cancer_Familial_Clustering_of|ACTH-independent_macronodular_adrenal_hyperplasia 28 59 0 0 0.00632 0 0 CYP1A1 1543 broad.mit.edu 37 15 75014929 75014929 + Silent SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr15:75014929C>G uc002ayp.3 - 2 632 c.510G>C c.(508-510)CTG>CTC p.L170L CYP1A1_uc010bjv.2_RNA|CYP1A1_uc010bjw.2_RNA|CYP1A1_uc010bju.2_Intron|CYP1A1_uc010bjx.2_Intron|CYP1A1_uc002ayq.3_Silent_p.L170L|CYP1A1_uc010bjy.2_Silent_p.L170L|CYP1A1_uc010bjz.1_Intron NM_000499 NP_000490 P04798 CP1A1_HUMAN cytochrome P450, family 1, subfamily A, 170 cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity ovary(2)|breast(2)|pancreas(1) 5 Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730) ACGTGCTTATCAGGACCTCAG 0.537 NA Endometrial_Cancer_Familial_Clustering_of|ACTH-independent_macronodular_adrenal_hyperplasia 25 88 0 0 0.00333 0 0 MEX3B 84206 broad.mit.edu 37 15 82336941 82336941 + Missense_Mutation SNP T T A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr15:82336941T>A uc002bgq.1 - 2 585 c.270A>T c.(268-270)AAA>AAT p.K90N NM_032246 NP_115622 Q6ZN04 MEX3B_HUMAN mex-3 homolog B 90 KH 1. protein autophosphorylation cytoplasmic mRNA processing body|nucleus calcium ion binding|RNA binding|zinc ion binding breast(1)|kidney(1) 2 CCCGCAGCGCTTTGATTTTAC 0.597 NA 15 35 0 0 0.003163 0 0 AP3B2 8120 broad.mit.edu 37 15 83332601 83332601 + Silent SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr15:83332601C>A uc010uoh.1 - 19 2508 c.2331G>T c.(2329-2331)TCG>TCT p.S777S AP3B2_uc010uoi.1_Silent_p.S796S|AP3B2_uc010uoj.1_Silent_p.S745S|AP3B2_uc010bmp.2_5'Flank|AP3B2_uc010uog.1_Silent_p.S413S|AP3B2_uc002biy.1_5'Flank NM_004644 NP_004635 Q13367 AP3B2_HUMAN adaptor-related protein complex 3, beta 2 777 Glu/Ser-rich. endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat binding|protein transporter activity ovary(3)|breast(1)|pancreas(1) 5 BRCA - Breast invasive adenocarcinoma(143;0.229) CCTCGGACTCCGATGTCATCT 0.572 NA 15 25 1.3612e-06 1.55873e-06 0.003163 1 0 ISG20 3669 broad.mit.edu 37 15 89198743 89198743 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr15:89198743G>A uc002bmv.1 + 4 820 c.527G>A c.(526-528)CGC>CAC p.R176H ISG20_uc002bmu.1_RNA|ISG20_uc002bmw.1_RNA|ISG20_uc010upn.1_RNA NM_002201 NP_002192 Q96AZ6 ISG20_HUMAN interferon stimulated exonuclease 176 cell proliferation|DNA catabolic process, exonucleolytic|response to virus|RNA catabolic process|type I interferon-mediated signaling pathway PML body 3'-5'-exoribonuclease activity|exoribonuclease II activity|metal ion binding|RNA binding|single-stranded DNA specific 3'-5' exodeoxyribonuclease activity 0 Lung NSC(78;0.0554)|all_lung(78;0.103) BRCA - Breast invasive adenocarcinoma(143;0.12) GGGCTGCCCCGCCTGGCTGTG 0.572 NA 19 64 0 0 0.008871 0 0 MFGE8 4240 broad.mit.edu 37 15 89449995 89449995 + Silent SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr15:89449995C>A uc002bng.3 - 4 515 c.402G>T c.(400-402)CGG>CGT p.R134R MFGE8_uc002bnf.3_Silent_p.R22R|MFGE8_uc002bnh.3_Silent_p.R134R|MFGE8_uc010bnn.2_Silent_p.R126R|MFGE8_uc010upq.1_Silent_p.R90R|MFGE8_uc010upr.1_Silent_p.R134R|MFGE8_uc010bno.2_Silent_p.R90R NM_005928 NP_005919 Q08431 MFGM_HUMAN milk fat globule-EGF factor 8 protein isoform a 134 F5/8 type C 1. angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization ovary(1) 1 Lung NSC(78;0.0392)|all_lung(78;0.077) CCCACATCCTCCGCAGCAGGT 0.587 NA 23 51 1.66031e-10 2.04129e-10 0.003954 1 0 RHCG 51458 broad.mit.edu 37 15 90020012 90020012 + Missense_Mutation SNP A A T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr15:90020012A>T uc002bnz.2 - 9 1309 c.1285T>A c.(1285-1287)TGC>AGC p.C429S RHCG_uc002bny.2_Missense_Mutation_p.C200S|RHCG_uc002boa.2_RNA NM_016321 NP_057405 Q9UBD6 RHCG_HUMAN Rh family, C glycoprotein 429 Cytoplasmic (Potential). amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding kidney(1) 1 Lung NSC(78;0.0237)|all_lung(78;0.0478) TCCTCAAAGCAGTTCTCATCT 0.547 NA 15 37 0 0 0.004007 0 0 ANPEP 290 broad.mit.edu 37 15 90346962 90346962 + Silent SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr15:90346962G>A uc002bop.3 - 8 1645 c.1353C>T c.(1351-1353)TCC>TCT p.S451S NM_001150 NP_001141 P15144 AMPN_HUMAN membrane alanine aminopeptidase precursor 451 Extracellular.|Metalloprotease. angiogenesis|cell differentiation|interspecies interaction between organisms cytosol|ER-Golgi intermediate compartment|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding ovary(3)|skin(1) 4 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169) Ezetimibe(DB00973) GCGGGTGGGAGGAGGCCAGTG 0.607 NSCLC(30;827 977 2459 19669 26125) NA 20 59 0 0 0.012319 0 0 ADAMTS17 170691 broad.mit.edu 37 15 100802561 100802561 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr15:100802561C>G uc002bvv.1 - 5 948 c.869G>C c.(868-870)CGT>CCT p.R290P ADAMTS17_uc002bvx.1_Missense_Mutation_p.R47P NM_139057 NP_620688 Q8TE56 ATS17_HUMAN ADAM metallopeptidase with thrombospondin type 1 290 Peptidase M12B. proteolysis intracellular|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571) OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161) COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219) ACTTACGGGACGTTGTCGTAG 0.473 NA 15 105 0 0 0.00499 0 0 AXIN1 8312 broad.mit.edu 37 16 347741 347741 + Missense_Mutation SNP T T C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr16:347741T>C uc002cgp.1 - 6 1942 c.1765A>G c.(1765-1767)AGT>GGT p.S589G AXIN1_uc002cgq.1_Missense_Mutation_p.S589G NM_003502 NP_003493 O15169 AXIN1_HUMAN axin 1 isoform a 589 Interaction with RNF111.|Interaction with PPP2CA. activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding breast(1)|liver(1) 2 all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187) AGGCCATCACTGGCGTTGGGG 0.652 NA 8 19 0 0 0.004482 0 0 WDR90 197335 broad.mit.edu 37 16 706405 706405 + Silent SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr16:706405G>T uc002cii.1 + 18 2124 c.2070G>T c.(2068-2070)CGG>CGT p.R690R WDR90_uc002cig.1_3'UTR|WDR90_uc002cih.1_3'UTR|WDR90_uc002cij.1_Intron|WDR90_uc002cik.1_Silent_p.R217R|WDR90_uc002cil.1_5'Flank|WDR90_uc002cim.1_5'Flank NM_145294 NP_660337 Q96KV7 WDR90_HUMAN WD repeat domain 90 690 WD 5. ovary(1) 1 Hepatocellular(780;0.0218) CGCTGTCCCGGGTGTACCACA 0.697 NA 6 19 0.00116845 0.00122497 0.001168 1 0 CCDC78 124093 broad.mit.edu 37 16 773113 773113 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr16:773113G>T uc002cjg.2 - 12 1288 c.1182C>A c.(1180-1182)GAC>GAA p.D394E CCDC78_uc002cjf.2_Missense_Mutation_p.D243E|CCDC78_uc002cji.3_3'UTR|CCDC78_uc002cjj.3_3'UTR|CCDC78_uc002cjh.2_Missense_Mutation_p.D153E NM_001031737 NP_001026907 A2IDD5 CCD78_HUMAN coiled-coil domain containing 78 394 central_nervous_system(1) 1 Hepatocellular(780;0.0218) TGCGGGAGAAGTCCCGGAGCT 0.642 NA 8 39 1.12685e-05 1.25378e-05 0.004482 1 0 TPSD1 23430 broad.mit.edu 37 16 1306299 1306299 + Silent SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr16:1306299C>A uc002clb.1 + 1 27 c.18C>A c.(16-18)CCC>CCA p.P6P TPSD1_uc010brm.1_5'Flank NM_012217 NP_036349 Q9BZJ3 TRYD_HUMAN tryptase delta 1 precursor 6 proteolysis extracellular region serine-type endopeptidase activity 0 Hepatocellular(780;0.00369) TCCTTGCTCCCCAGATGCTGA 0.711 NA 22 77 1.64293e-13 2.1111e-13 0.00333 1 0 IFT140 9742 broad.mit.edu 37 16 1652541 1652541 + Silent SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr16:1652541G>A uc002cmb.2 - 4 561 c.199C>T c.(199-201)CTG>TTG p.L67L NM_014714 NP_055529 Q96RY7 IF140_HUMAN intraflagellar transport 140 67 WD 2. ovary(3)|pancreas(1)|skin(1) 5 Hepatocellular(780;0.219) TGCCAGCACAGGGAAGCAACC 0.602 NA 6 44 0 0 0.001984 0 0 PKD1 5310 broad.mit.edu 37 16 2159683 2159684 + Missense_Mutation DNP GC GC AA TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 GC GC - - GC GC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr16:2159683_2159684GC>AA uc002cos.1 - 15 5693_5694 c.5484_5485GC>TT c.(5482-5487)CAGCTG>CATTTG p.Q1828H PKD1_uc002cot.1_Missense_Mutation_p.Q1828H NM_001009944 NP_001009944 P98161 PKD1_HUMAN polycystin 1 isoform 1 precursor 1828 PKD 14.|Extracellular (Potential). calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding central_nervous_system(2)|skin(1) 3 CCCGTGGCCAGCTGCCCCCAAA 0.668 NA 3 8 0 0 0.004672 0 0 PKD1 5310 broad.mit.edu 37 16 2164413 2164413 + Nonsense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr16:2164413C>A uc002cos.1 - 11 2820 c.2611G>T c.(2611-2613)GAG>TAG p.E871* PKD1_uc002cot.1_Nonsense_Mutation_p.E871* NM_001009944 NP_001009944 P98161 PKD1_HUMAN polycystin 1 isoform 1 precursor 871 Extracellular (Potential).|PKD 3. calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding central_nervous_system(2)|skin(1) 3 CAGACATTCTCAAAGCGGGCG 0.667 NA 8 26 0.00448238 0.00463893 0.004482 1 0 MEFV 4210 broad.mit.edu 37 16 3294475 3294475 + Nonsense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr16:3294475G>C uc002cun.1 - 7 1764 c.1724C>G c.(1723-1725)TCA>TGA p.S575* NM_000243 NP_000234 O15553 MEFV_HUMAN Mediterranean fever protein 575 inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding central_nervous_system(2)|skin(2)|ovary(1)|lung(1) 6 Colchicine(DB01394) CCATCTACCTGAGAAGTACTT 0.507 NA 18 81 0 0 0.006122 0 0 ZNF75A 7627 broad.mit.edu 37 16 3367374 3367374 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr16:3367374G>C uc002cut.3 + 6 922 c.396G>C c.(394-396)AAG>AAC p.K132N ZNF75A_uc002cuv.3_RNA NM_153028 NP_694573 Q96N20 ZN75A_HUMAN zinc finger protein 75a 132 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 TTCCAGTGAAGAAAAGAAAGA 0.383 NA 5 21 0 0 0.000602 0 0 ZNF500 26048 broad.mit.edu 37 16 4802892 4802892 + Missense_Mutation SNP C C A rs75619376 byFrequency TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr16:4802892C>A uc002cxp.1 - 6 1175 c.928G>T c.(928-930)GGC>TGC p.G310C ZNF500_uc002cxo.1_Missense_Mutation_p.G102C|ZNF500_uc010uxt.1_Missense_Mutation_p.G310C NM_021646 NP_067678 O60304 ZN500_HUMAN zinc finger protein 500 310 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(1) 3 GGTGGGGGGCCGCCTCTTGGC 0.662 NA 18 68 1.99824e-07 2.3286e-07 0.00499 1 0 CLEC16A 23274 broad.mit.edu 37 16 11133706 11133706 + Missense_Mutation SNP A A G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr16:11133706A>G uc002dao.2 + 14 1863 c.1633A>G c.(1633-1635)AGG>GGG p.R545G CLEC16A_uc002dan.3_Missense_Mutation_p.R527G NM_015226 NP_056041 Q2KHT3 CL16A_HUMAN C-type lectin domain family 16, member A 545 p.0?(1) ovary(1)|central_nervous_system(1) 2 AAGACTCATCAGGATCATGAA 0.577 NA 5 8 0 0 0.001168 0 0 PLA2G10 8399 broad.mit.edu 37 16 14766512 14766512 + Silent SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr16:14766512G>C uc002dcq.2 - 4 890 c.450C>G c.(448-450)CTC>CTG p.L150L NM_003561 NP_003552 O15496 PA2GX_HUMAN phospholipase A2, group X precursor 150 arachidonic acid metabolic process|axon guidance|cholesterol homeostasis|lipid catabolic process|lysophospholipid transport|negative regulation of cholesterol efflux|negative regulation of sequence-specific DNA binding transcription factor activity|phospholipid metabolic process|positive regulation of arachidonic acid secretion|positive regulation of cellular protein metabolic process|positive regulation of lipid storage|positive regulation of prostaglandin secretion|regulation of macrophage activation extracellular region calcium ion binding|phospholipase A2 activity 0 GGGGGTAGAAGAGGTACTTTA 0.478 NA 34 168 0 0 0.012213 0 0 Unknown 0 broad.mit.edu 37 16 15023240 15023240 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr16:15023240G>T uc010uzk.1 + 6 1085 c.809G>T c.(808-810)CGC>CTC p.R270L NPIP_uc002dcx.3_RNA SubName: Full=cDNA FLJ57488, highly similar to Polycystin-1; NA ATCCTCACGCGCTCCCGCGTG 0.701 NA 4 26 0.00024832 0.000265313 0.009096 1 0 SMG1 23049 broad.mit.edu 37 16 18856973 18856973 + Silent SNP T T C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr16:18856973T>C uc002dfm.2 - 39 6360 c.5997A>G c.(5995-5997)AAA>AAG p.K1999K SMG1_uc010bwb.2_Silent_p.K1859K|SMG1_uc010bwa.2_Silent_p.K730K|SMG1_uc002dfo.3_Silent_p.K297K NM_015092 NP_055907 Q96Q15 SMG1_HUMAN PI-3-kinase-related kinase SMG-1 1999 DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1) 16 TTTTCTCTTCTCTGACCAAGA 0.363 NA 8 44 0 0 0.00308 0 0 ACSM2A 123876 broad.mit.edu 37 16 20486733 20486733 + Missense_Mutation SNP A A C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr16:20486733A>C uc010bwe.2 + 8 1183 c.944A>C c.(943-945)TAC>TCC p.Y315S ACSM2A_uc010bwd.1_RNA|ACSM2A_uc010vax.1_Missense_Mutation_p.Y236S|ACSM2A_uc002dhf.3_Missense_Mutation_p.Y315S|ACSM2A_uc002dhg.3_Missense_Mutation_p.Y315S|ACSM2A_uc010vay.1_Missense_Mutation_p.Y236S|ACSM2A_uc002dhh.3_5'Flank NM_001010845 NP_001010845 Q08AH3 ACS2A_HUMAN acyl-CoA synthetase medium-chain family member 315 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding skin(2)|breast(1) 3 CCCATTGTTTACCGGATGTTG 0.507 NA 8 51 0 0 0.004482 0 0 OTOA 146183 broad.mit.edu 37 16 21698923 21698923 + Missense_Mutation SNP A A T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr16:21698923A>T uc002djh.2 + 7 590 c.589A>T c.(589-591)ACA>TCA p.T197S uc002diq.3_Intron|OTOA_uc010vbj.1_Missense_Mutation_p.T118S NM_144672 NP_653273 Q7RTW8 OTOAN_HUMAN otoancorin isoform 1 197 sensory perception of sound anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix ovary(1)|central_nervous_system(1)|skin(1) 3 GBM - Glioblastoma multiforme(48;0.0414) GCCAGACATCACAGAGCGGCT 0.488 NA 11 46 0 0 0.010729 0 0 PRKCB 5579 broad.mit.edu 37 16 23848711 23848711 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr16:23848711G>T uc002dmd.2 + 2 386 c.189G>T c.(187-189)CAG>CAT p.Q63H PRKCB_uc002dme.2_Missense_Mutation_p.Q63H NM_212535 NP_997700 P05771 KPCB_HUMAN protein kinase C, beta isoform 1 63 Phorbol-ester/DAG-type 1. apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1) 9 Vitamin E(DB00163) TCGGGAAGCAGGGATTCCAGT 0.547 NA 41 185 1.32136e-16 1.75536e-16 0.00874 1 0 IL4R 3566 broad.mit.edu 37 16 27375021 27375021 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr16:27375021C>T uc002don.2 + 11 2590 c.2348C>T c.(2347-2349)TCG>TTG p.S783L IL4R_uc002dop.3_Missense_Mutation_p.S768L|IL4R_uc010bxy.2_Missense_Mutation_p.S783L|IL4R_uc002doo.2_Missense_Mutation_p.S623L NM_000418 NP_000409 P24394 IL4RA_HUMAN interleukin 4 receptor alpha chain isoform a 783 Cytoplasmic (Potential). immune response|production of molecular mediator involved in inflammatory response integral to plasma membrane identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity ovary(1)|skin(1) 2 CTGGCACCCTCGGGCATCTCA 0.612 NA 14 75 0 0 0.001855 0 0 MAZ 4150 broad.mit.edu 37 16 29819948 29819948 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr16:29819948G>A uc002dty.2 + 4 1333 c.1165G>A c.(1165-1167)GAG>AAG p.E389K uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MAZ_uc002dtv.1_Intron|MAZ_uc010vdx.1_Missense_Mutation_p.E366K|MAZ_uc002dtw.2_Intron|MAZ_uc002dtx.2_Missense_Mutation_p.E389K|MAZ_uc010bzg.2_Missense_Mutation_p.E84K|MAZ_uc002dtz.1_3'UTR|MAZ_uc002dua.2_5'UTR|MAZ_uc010vdy.1_5'UTR NM_002383 NP_002374 P56270 MAZ_HUMAN MYC-associated zinc finger protein isoform 1 389 regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter nucleus DNA binding|protein binding|RNA binding|zinc ion binding ovary(1) 1 AGTACGACACGAGGAGAAAGT 0.582 Colon(72;875 1167 15364 30899 37091) NA 3 27 0 0 0.004672 0 0 SRCAP 10847 broad.mit.edu 37 16 30732215 30732216 + Missense_Mutation DNP GG GG TT rs141288104 TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr16:30732215_30732216GG>TT uc002dze.1 + 20 3554_3555 c.3169_3170GG>TT c.(3169-3171)GGG>TTG p.G1057L SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.G914L|SRCAP_uc010bzz.1_Missense_Mutation_p.G627L NM_006662 NP_006653 Q6ZRS2 SRCAP_HUMAN Snf2-related CBP activator protein 1057 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity ovary(3)|skin(1) 4 Colorectal(24;0.198) CTCACCTGCCGGGCCCCCGCTT 0.639 NA 15 79 0 0 0.004672 0 0 ITGAD 3681 broad.mit.edu 37 16 31422674 31422674 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr16:31422674C>A uc002ebv.1 + 14 1592 c.1543C>A c.(1543-1545)CAC>AAC p.H515N ITGAD_uc010cap.1_Missense_Mutation_p.H516N NM_005353 NP_005344 Q13349 ITAD_HUMAN integrin, alpha D precursor 515 FG-GAP 6.|Extracellular (Potential). cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity skin(1) 1 TGAGCAGGGCCACCCCTGGGG 0.622 NA 52 147 6.03219e-31 8.41378e-31 0.01441 1 0 COQ9 57017 broad.mit.edu 37 16 57490421 57490421 + Silent SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr16:57490421G>C uc002elq.2 + 4 400 c.384G>C c.(382-384)CTG>CTC p.L128L COQ9_uc010vhn.1_Silent_p.L128L|COQ9_uc010vho.1_Silent_p.L128L|COQ9_uc010vhp.1_Silent_p.L128L|COQ9_uc002elr.2_Silent_p.L128L|COQ9_uc002els.2_5'Flank NM_020312 NP_064708 O75208 COQ9_HUMAN coenzyme Q9 homolog precursor 128 ubiquinone biosynthetic process mitochondrion breast(1) 1 TGTAGTCTCTGGGTCTCTCCA 0.512 NA 47 60 0 0 0.01441 0 0 CCDC135 84229 broad.mit.edu 37 16 57761225 57761225 + Silent SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr16:57761225G>A uc002emi.2 + 15 2189 c.2100G>A c.(2098-2100)CTG>CTA p.L700L CCDC135_uc002emj.2_Silent_p.L700L|CCDC135_uc002emk.2_Silent_p.L635L NM_032269 NP_115645 Q8IY82 CC135_HUMAN coiled-coil domain containing 135 700 Potential. cytoplasm central_nervous_system(1) 1 TGGAGATTCTGAAGCTTCGAG 0.433 NA 20 91 0 0 0.008871 0 0 CES8 283848 broad.mit.edu 37 16 67034819 67034819 + Silent SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr16:67034819C>G uc002eqv.2 + 4 505 c.462C>G c.(460-462)GGC>GGG p.G154G CES8_uc010vix.1_Silent_p.G154G|CES8_uc002eqw.2_Silent_p.G154G|CES8_uc002eqy.2_Silent_p.G56G|CES8_uc002eqx.2_5'UTR|CES8_uc010viy.1_Silent_p.G56G|CES8_uc010viz.1_Silent_p.G56G NM_173815 NP_776176 Q5XG92 EST4A_HUMAN carboxylesterase 8 (putative) 154 extracellular region carboxylesterase activity 0 CGTACGAGGGCTCTGACTTGG 0.662 NA 12 17 0 0 0.013537 0 0 EXOC3L 283849 broad.mit.edu 37 16 67218614 67218614 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr16:67218614G>C uc002erx.1 - 13 2246 c.2005C>G c.(2005-2007)CTG>GTG p.L669V KIAA0895L_uc002ert.2_5'Flank|KIAA0895L_uc002eru.2_5'Flank|EXOC3L_uc002erv.1_RNA|EXOC3L_uc002erw.1_Missense_Mutation_p.L320V|EXOC3L_uc002ery.1_Missense_Mutation_p.P601R|EXOC3L_uc010vje.1_Missense_Mutation_p.P596R NM_178516 NP_848611 Q86VI1 EX3L1_HUMAN exocyst complex component 3-like 669 exocytosis|peptide hormone secretion exocyst|stored secretory granule|transport vesicle 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0021)|Epithelial(162;0.0073)|all cancers(182;0.0616) TGTTGCCGCAGGCCAGCCACC 0.716 NA 15 49 0 0 0.00245 0 0 PLA2G15 23659 broad.mit.edu 37 16 68289811 68289811 + Nonsense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr16:68289811G>A uc002evr.2 + 5 728 c.645G>A c.(643-645)TGG>TGA p.W215* PLA2G15_uc010vld.1_Missense_Mutation_p.E174K|PLA2G15_uc010vle.1_Nonsense_Mutation_p.W121*|PLA2G15_uc010vlf.1_Intron|PLA2G15_uc002evs.2_Nonsense_Mutation_p.W36* NM_012320 NP_036452 Q8NCC3 PAG15_HUMAN lysophospholipase 3 (lysosomal phospholipase A2) 215 fatty acid catabolic process extracellular region|lysosome lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding ovary(1) 1 CGCAGGCCTGGAAGGACAAGT 0.632 NA 17 35 0 0 0.006122 0 0 SLC7A6 9057 broad.mit.edu 37 16 68309111 68309111 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr16:68309111C>A uc002evt.1 + 4 791 c.482C>A c.(481-483)CCC>CAC p.P161H SLC7A6_uc010cfb.1_RNA|SLC7A6_uc002evu.1_Missense_Mutation_p.P161H|SLC7A6_uc002evv.1_RNA|SLC7A6_uc010cfc.1_RNA NM_001076785 NP_001070253 Q92536 YLAT2_HUMAN solute carrier family 7 (cationic amino acid 161 Extracellular (Potential). blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly basolateral plasma membrane|integral to plasma membrane amino acid transmembrane transporter activity|antiporter activity central_nervous_system(1) 1 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948) AGCTGTGATCCCCCATACCTG 0.572 NA 18 88 8.00594e-06 8.9558e-06 0.007413 1 0 TMCO7 79613 broad.mit.edu 37 16 68941453 68941453 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr16:68941453G>T uc002ewi.3 + 10 1787 c.1775G>T c.(1774-1776)GGA>GTA p.G592V NM_024562 NP_078838 Q9C0B7 TMCO7_HUMAN transmembrane and coiled-coil domains 7 592 integral to membrane binding 0 Ovarian(137;0.0568) OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198) GGTTTGGCAGGAGACTTCTTC 0.502 NA 15 21 2.31682e-05 2.54658e-05 0.003163 1 0 CLEC18B 497190 broad.mit.edu 37 16 74443757 74443757 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr16:74443757C>A uc002fct.2 - 11 1431 c.1231G>T c.(1231-1233)GCC>TCC p.A411S CLEC18B_uc002fcu.2_Intron NM_001011880 NP_001011880 Q6UXF7 CL18B_HUMAN C-type lectin domain family 18, member B 411 C-type lectin. extracellular region sugar binding 0 TACCCCATGGCAGCACTCAGC 0.632 NA 5 60 5.18039e-06 5.81293e-06 0.00308 1 0 SLC38A8 146167 broad.mit.edu 37 16 84050323 84050323 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr16:84050323C>T uc002fhg.1 - 8 963 c.963G>A c.(961-963)ATG>ATA p.M321I NM_001080442 NP_001073911 A6NNN8 S38A8_HUMAN solute carrier family 38, member 8 321 amino acid transport|sodium ion transport integral to membrane 0 AGAAGTCCTGCATCACTGACC 0.677 NA 17 31 0 0 0.00499 0 0 ITGAE 3682 broad.mit.edu 37 17 3651249 3651249 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr17:3651249C>G uc002fwo.3 - 17 2221 c.2122G>C c.(2122-2124)GAA>CAA p.E708Q NM_002208 NP_002199 P38570 ITAE_HUMAN integrin, alpha E precursor 708 Extracellular (Potential). cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity large_intestine(2)|breast(1)|pancreas(1) 4 UCEC - Uterine corpus endometrioid carcinoma (3;0.0813) GAGCTGATTTCAAAACATAAA 0.542 NSCLC(182;635 2928 8995 38788) NA 8 32 0 0 0.00308 0 0 CAMKK1 84254 broad.mit.edu 37 17 3786361 3786361 + Missense_Mutation SNP T T A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr17:3786361T>A uc002fwt.2 - 6 717 c.623A>T c.(622-624)CAC>CTC p.H208L CAMKK1_uc002fwu.2_Missense_Mutation_p.H208L|CAMKK1_uc002fwv.2_Missense_Mutation_p.H208L NM_172206 NP_757343 Q8N5S9 KKCC1_HUMAN calcium/calmodulin-dependent protein kinase 1 208 Protein kinase. synaptic transmission cytosol|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity ovary(1) 1 LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176) CACATTCACGTGGTCCAGCTT 0.642 NA 26 33 0 0 0.005443 0 0 UBE2G1 7326 broad.mit.edu 37 17 4186205 4186205 + Silent SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr17:4186205C>T uc002fxs.2 - 5 796 c.438G>A c.(436-438)AGG>AGA p.R146R NM_003342 NP_003333 P62253 UB2G1_HUMAN ubiquitin-conjugating enzyme E2G 1 146 protein K48-linked ubiquitination|protein K63-linked ubiquitination|ubiquitin-dependent protein catabolic process ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity 0 TTCTATCTTCCCTCCATTCTT 0.323 NA 3 7 0 0 0.004672 0 0 NLRP1 22861 broad.mit.edu 37 17 5463332 5463332 + Silent SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr17:5463332C>T uc002gci.2 - 4 1239 c.684G>A c.(682-684)GAG>GAA p.E228E NLRP1_uc002gcg.1_Silent_p.E228E|NLRP1_uc002gck.2_Silent_p.E228E|NLRP1_uc002gcj.2_Silent_p.E228E|NLRP1_uc002gcl.2_Silent_p.E228E|NLRP1_uc002gch.3_Silent_p.E228E|NLRP1_uc010clh.2_Silent_p.E228E NM_033004 NP_127497 Q9C000 NALP1_HUMAN NLR family, pyrin domain containing 1 isoform 1 228 defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide cytoplasm|NALP1 inflammasome complex|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1) 9 Colorectal(1115;3.48e-05) GCCTGCCTTTCTCTGATTTCT 0.488 NA 7 28 0 0 0.001984 0 0 SLC13A5 284111 broad.mit.edu 37 17 6606404 6606404 + Silent SNP G G T rs142320179 TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr17:6606404G>T uc002gdj.2 - 5 689 c.601C>A c.(601-603)CGG>AGG p.R201R SLC13A5_uc010vtf.1_Silent_p.R201R|SLC13A5_uc010clq.2_Silent_p.R158R|SLC13A5_uc002gdk.2_Silent_p.R184R|SLC13A5_uc002gdl.1_Silent_p.R183R NM_177550 NP_808218 Q86YT5 S13A5_HUMAN solute carrier family 13, member 5 isoform a 201 integral to membrane citrate transmembrane transporter activity 0 AACCTCTTCCGCTCTTGGTCT 0.632 NA 39 59 3.78316e-11 4.72732e-11 0.00623 1 0 TP53 7157 broad.mit.edu 37 17 7578550 7578550 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr17:7578550G>C uc002gim.2 - 5 574 c.380C>G c.(379-381)TCC>TGC p.S127C TP53_uc002gig.1_Missense_Mutation_p.S127C|TP53_uc002gih.2_Missense_Mutation_p.S127C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'UTR|TP53_uc010cng.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cnh.1_Missense_Mutation_p.S127C|TP53_uc010cni.1_Missense_Mutation_p.S127C|TP53_uc002gij.2_Missense_Mutation_p.S127C|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.S34C|TP53_uc002gio.2_5'UTR|TP53_uc010vug.1_Missense_Mutation_p.S88C NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 127 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). S -> C (in a sporadic cancer; somatic mutation).|S -> F (in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.S127F(18)|p.S127Y(8)|p.0?(7)|p.Y126_K132delYSPALNK(6)|p.Y126_N131delYSPALN(3)|p.S127P(3)|p.S127T(2)|p.P128fs*42(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.P128fs*18(1)|p.Y126fs*11(1)|p.S127S(1)|p.S127C(1)|p.S127_Q136del10(1)|p.P13fs*18(1)|p.?(1)|p.S127fs*43(1)|p.S127fs*42(1)|p.Y126fs*18(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GAGGGCAGGGGAGTACTGTAG 0.552 Pancreas(47;798 1329 9957 10801) 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 19 15 0 0 0.007413 0 0 MYH4 4622 broad.mit.edu 37 17 10361031 10361031 + Missense_Mutation SNP A A G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr17:10361031A>G uc002gmn.2 - 16 1714 c.1603T>C c.(1603-1605)TCC>CCC p.S535P uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN myosin, heavy polypeptide 4, skeletal muscle 535 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(10)|skin(2)|central_nervous_system(1) 13 TCTAGGATGGAGAAGATGCCC 0.403 NA 9 40 0 0 0.004482 0 0 MYH4 4622 broad.mit.edu 37 17 10367852 10367852 + Nonsense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr17:10367852G>T uc002gmn.2 - 7 696 c.585C>A c.(583-585)TAC>TAA p.Y195* uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN myosin, heavy polypeptide 4, skeletal muscle 195 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(10)|skin(2)|central_nervous_system(1) 13 TTGTTGCAAAGTACTGGATGA 0.428 NA 14 23 2.32078e-09 2.8199e-09 0.003163 1 0 MAP2K4 6416 broad.mit.edu 37 17 12028689 12028689 + Splice_Site SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr17:12028689G>C uc002gnj.2 + 8 960 c.891_splice c.e8+1 p.L297_splice MAP2K4_uc002gnk.2_Splice_Site_p.L308_splice|MAP2K4_uc010vvi.1_Splice_Site_p.L179_splice|MAP2K4_uc010vvj.1_Splice_Site_p.L169_splice NM_003010 NP_003001 P45985 MP2K4_HUMAN mitogen-activated protein kinase kinase 4 cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.?(1) large_intestine(14)|breast(12)|lung(8)|ovary(8)|pancreas(8)|stomach(2)|central_nervous_system(1)|biliary_tract(1)|testis(1)|endometrium(1)|urinary_tract(1)|skin(1) 58 all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163) Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681) GATCACATTGGTATGTTTATG 0.403 NA D|Mis|N pancreatic|breast|colorectal 17 27 0 0 0.004007 0 0 RAI1 10743 broad.mit.edu 37 17 17699745 17699745 + Silent SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr17:17699745G>A uc002grm.2 + 3 3952 c.3483G>A c.(3481-3483)CGG>CGA p.R1161R RAI1_uc002grn.1_Silent_p.R1161R NM_030665 NP_109590 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 1161 Nuclear localization signal (Potential). cytoplasm|nucleus zinc ion binding central_nervous_system(1)|skin(1) 2 READ - Rectum adenocarcinoma(1115;0.0276) CCAAGCGGCGGAGGCCCTCTG 0.632 NA 17 58 0 0 0.004007 0 0 EVPLL 645027 broad.mit.edu 37 17 18284947 18284947 + Silent SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr17:18284947G>A uc002gte.2 + 4 504 c.249G>A c.(247-249)CAG>CAA p.Q83Q NM_001145127 NP_001138599 A8MZ36 EVPLL_HUMAN envoplakin-like 83 Potential. 0 GGGTGACCCAGGAGTGTGCGG 0.657 NA 14 30 0 0 0.004007 0 0 CCDC144B 284047 broad.mit.edu 37 17 18513562 18513562 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr17:18513562C>G uc002gub.1 - 3 544 c.459G>C c.(457-459)CAG>CAC p.Q153H CCDC144B_uc002gua.3_RNA|CCDC144B_uc010vyc.1_RNA|CCDC144B_uc002guc.1_Missense_Mutation_p.Q153H NM_182568 NP_872374 coiled-coil domain containing 144B ovary(1)|skin(1) 2 TCTTGGATCTCTGACAAGTCT 0.353 NA 8 47 0 0 0.00308 0 0 MAPK7 5598 broad.mit.edu 37 17 19282274 19282274 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr17:19282274G>T uc002gvn.2 + 2 447 c.61G>T c.(61-63)GTG>TTG p.V21L B9D1_uc010cqm.1_5'Flank|B9D1_uc002gvl.3_5'Flank|MAPK7_uc002gvo.2_Intron|MAPK7_uc002gvq.2_Missense_Mutation_p.V21L|MAPK7_uc002gvp.2_Missense_Mutation_p.V21L NM_139033 NP_620602 Q13164 MK07_HUMAN mitogen-activated protein kinase 7 isoform 1 21 Required for cytoplasmic targeting (By similarity). cell cycle|cell differentiation|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|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|MAP kinase activity|protein binding central_nervous_system(4)|lung(3)|stomach(1)|skin(1) 9 all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206) CCCCGGGCCCGTGAAGGCCGA 0.657 NA 6 10 0.00198382 0.00206488 0.001984 1 0 KCNJ12 3768 broad.mit.edu 37 17 21319507 21319507 + Silent SNP C C A rs143946927 byFrequency TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr17:21319507C>A uc002gyv.1 + 3 1558 c.853C>A c.(853-855)CGG>AGG p.R285R NM_021012 NP_066292 Q14500 IRK12_HUMAN potassium inwardly-rectifying channel, subfamily 285 Cytoplasmic (By similarity). Missing (in Ref. 1; AAA65122). blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission integral to membrane inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity ovary(3)|skin(1) 4 Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732) Dofetilide(DB00204) CGGCATCAGCCGGCAGGACCT 0.622 NA Prostate(3;0.18) 10 92 3.86212e-05 4.21639e-05 0.008291 1 0 NOS2 4843 broad.mit.edu 37 17 26094815 26094815 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr17:26094815G>T uc002gzu.2 - 18 2347 c.2083C>A c.(2083-2085)CCC>ACC p.P695T NOS2_uc010wab.1_Missense_Mutation_p.P660T NM_000625 NP_000616 P35228 NOS2_HUMAN nitric oxide synthase 2A 695 arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process cytosol|nucleus arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding skin(2)|ovary(1)|breast(1) 4 Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155) TAGAGCTTGGGGATCTGAATG 0.567 NA 10 32 1.33987e-11 1.68295e-11 0.008291 1 0 SPAG5 10615 broad.mit.edu 37 17 26919437 26919437 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr17:26919437C>T uc002hbq.2 - 3 917 c.825G>A c.(823-825)ATG>ATA p.M275I SGK494_uc010waq.1_Intron NM_006461 NP_006452 Q96R06 SPAG5_HUMAN sperm associated antigen 5 275 cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization condensed chromosome kinetochore|cytoplasm|spindle pole protein binding central_nervous_system(1) 1 Lung NSC(42;0.00431) CTCTTTCCTCCATAGCTCCAT 0.473 NA 21 50 0 0 0.010504 0 0 SPACA3 124912 broad.mit.edu 37 17 31324729 31324729 + Splice_Site SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr17:31324729G>T uc002hhs.1 + 5 657 c.582_splice c.e5-1 p.W194_splice SPACA3_uc010cte.1_Splice_Site NM_173847 NP_776246 Q8IXA5 SACA3_HUMAN sperm acrosome associated 3 cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus acrosomal membrane|extracellular region|integral to membrane|lysosome bacterial cell surface binding|lysozyme activity|protein binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(9;0.193) TCCATCCTCAGGGAGGCCTGG 0.532 NA 28 50 1.42536e-11 1.78878e-11 0.004656 1 0 MRPL45 84311 broad.mit.edu 37 17 36453205 36453205 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr17:36453205G>T uc002hpy.2 + 1 208 c.56G>T c.(55-57)TGG>TTG p.W19L NM_032351 NP_115727 Q9BRJ2 RM45_HUMAN mitochondrial ribosomal protein L45 precursor 19 intracellular protein transport|translation mitochondrial inner membrane presequence translocase complex|ribosome P-P-bond-hydrolysis-driven protein transmembrane transporter activity|structural constituent of ribosome 0 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) TTGGGCTGGTGGTTTCGGCAG 0.572 NA 15 67 1.99824e-07 2.3286e-07 0.00499 1 0 KRT23 25984 broad.mit.edu 37 17 39092742 39092742 + Silent SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr17:39092742C>A uc002hvm.1 - 2 703 c.114G>T c.(112-114)GCG>GCT p.A38A KRT23_uc010wfl.1_Intron|KRT23_uc010cxf.1_Intron|KRT23_uc010cxg.2_Silent_p.A38A|KRT23_uc002hvn.1_Silent_p.A38A NM_015515 NP_056330 Q9C075 K1C23_HUMAN keratin 23 38 Head. intermediate filament structural molecule activity ovary(1) 1 Breast(137;0.000301)|Ovarian(249;0.15) GGGCTCCCCCCGCACCGCCAT 0.697 NA 32 64 1.62565e-12 2.06332e-12 0.012213 1 0 JUP 3728 broad.mit.edu 37 17 39681167 39681167 + Silent SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr17:39681167G>C uc010wfs.1 - 6 1085 c.1077C>G c.(1075-1077)GCC>GCG p.A359A KRT19_uc002hxd.3_Silent_p.A196A NM_021991 NP_068831 P14923 PLAK_HUMAN junction plakoglobin Error:Variant_position_missing_in_P14923_after_alignment adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity ovary(2)|lung(2)|breast(1) 5 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.233) BRCA - Breast invasive adenocarcinoma(366;0.15) GGTCGGTCCTGGCCAGGGTCA 0.572 Colon(16;42 520 6044 17852 28530) NA 20 133 0 0 0.008871 0 0 TTC25 83538 broad.mit.edu 37 17 40095333 40095333 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr17:40095333G>T uc002hyj.3 + 7 1055 c.966G>T c.(964-966)TTG>TTT p.L322F TTC25_uc010cxt.2_RNA|TTC25_uc010cxs.1_Intron NM_031421 NP_113609 Q96NG3 TTC25_HUMAN tetratricopeptide repeat domain 25 322 TPR 5. cytoplasm protein binding ovary(1) 1 all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236) TTGGAAACTTGTATAGCTGCA 0.512 NA 9 27 1.12685e-05 1.25378e-05 0.004482 1 0 RAB5C 5878 broad.mit.edu 37 17 40280324 40280324 + Silent SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr17:40280324C>A uc002hyz.2 - 5 713 c.396G>T c.(394-396)GCG>GCT p.A132A RAB5C_uc002hza.2_Silent_p.A132A|RAB5C_uc010cxx.2_Silent_p.A165A|RAB5C_uc010cxy.2_Silent_p.A44A NM_201434 NP_958842 P51148 RAB5C_HUMAN RAB5C, member RAS oncogene family isoform a 132 protein transport|small GTPase mediated signal transduction early endosome membrane|melanosome|plasma membrane GTP binding|GTPase activity|protein binding large_intestine(1)|skin(1) 2 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.128) CCTTGTTACCCGCGAGTGCAA 0.587 NA 16 64 6.31663e-08 7.4567e-08 0.003163 1 0 GHDC 84514 broad.mit.edu 37 17 40344578 40344578 + Silent SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr17:40344578C>T uc002hzd.2 - 4 1054 c.570G>A c.(568-570)CTG>CTA p.L190L GHDC_uc002hzg.1_Silent_p.L190L|GHDC_uc010wgg.1_Silent_p.L151L|GHDC_uc002hze.3_Silent_p.L190L|GHDC_uc002hzf.3_Silent_p.L190L|GHDC_uc010cxz.2_RNA NM_032484 NP_115873 Q8N2G8 GHDC_HUMAN LGP1 homolog isoform 1 190 endoplasmic reticulum|nuclear envelope 0 all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304) BRCA - Breast invasive adenocarcinoma(366;0.124) CTGGGGACCTCAGTGCGTCCA 0.652 NA 32 105 0 0 0.010818 0 0 NAGLU 4669 broad.mit.edu 37 17 40695718 40695718 + Missense_Mutation SNP G G T rs104894598 TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr17:40695718G>T uc002hzv.2 + 6 2034 c.1694G>T c.(1693-1695)CGG>CTG p.R565L NM_000263 NP_000254 P54802 ANAG_HUMAN alpha-N-acetylglucosaminidase precursor 565 R -> Q (in MPS3B).|R -> W (in MPS3B; accounts for approximately 6% of the mutant alleles in Australasian patients with MPS3B).|R -> P (in MPS3B; does not yield active enzyme). lysosome alpha-N-acetylglucosaminidase activity 0 all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344) BRCA - Breast invasive adenocarcinoma(366;0.13) N-Acetyl-D-glucosamine(DB00141) GACCTCACTCGGCAGGCAGTG 0.632 NA 3 41 6.4e-05 6.95722e-05 0.004672 1 0 SLC4A1 6521 broad.mit.edu 37 17 42335826 42335826 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr17:42335826G>C uc002igf.3 - 10 1191 c.1042C>G c.(1042-1044)CAG>GAG p.Q348E SLC4A1_uc002igg.3_Missense_Mutation_p.Q348E NM_000342 NP_000333 P02730 B3AT_HUMAN solute carrier family 4, anion exchanger, member 348 Cytoplasmic. bicarbonate transport|cellular ion homeostasis basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(137;0.014)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.115) GGGCTGGACTGATAGCGCCTT 0.637 NA 24 139 0 0 0.00333 0 0 SLC4A1 6521 broad.mit.edu 37 17 42336924 42336924 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr17:42336924G>A uc002igf.3 - 8 784 c.635C>T c.(634-636)TCA>TTA p.S212L SLC4A1_uc002igg.3_Missense_Mutation_p.S212L NM_000342 NP_000333 P02730 B3AT_HUMAN solute carrier family 4, anion exchanger, member 212 Cytoplasmic. bicarbonate transport|cellular ion homeostasis basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(137;0.014)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.115) TCCAGATGGTGAGTGCCCTTC 0.602 NA 12 63 0 0 0.013537 0 0 GPATCH8 23131 broad.mit.edu 37 17 42478467 42478467 + Silent SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr17:42478467C>T uc002igw.1 - 8 1042 c.978G>A c.(976-978)GGG>GGA p.G326G GPATCH8_uc002igv.1_Silent_p.G248G|GPATCH8_uc010wiz.1_Silent_p.G248G NM_001002909 NP_001002909 Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 326 intracellular nucleic acid binding|zinc ion binding ovary(2)|kidney(1)|skin(1) 4 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) CTTCAGAGGTCCCTTCCTCCG 0.448 NA OREG0024461 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 37 145 0 0 0.003755 0 0 KIF18B 146909 broad.mit.edu 37 17 43012664 43012664 + Missense_Mutation SNP T T C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr17:43012664T>C uc010wji.1 - 3 535 c.434A>G c.(433-435)CAG>CGG p.Q145R KIF18B_uc002iht.2_Missense_Mutation_p.Q145R|KIF18B_uc010wjh.1_Missense_Mutation_p.Q145R NM_001080443 NP_001073912 kinesin family member 18B ovary(2) 2 Prostate(33;0.155) GTGCTTCTCCTGCTGGCGGGC 0.657 NA 3 36 0 0 0.004672 0 0 ACBD4 79777 broad.mit.edu 37 17 43213514 43213514 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr17:43213514G>T uc002iid.2 + 2 347 c.3G>T c.(1-3)ATG>ATT p.M1I ACBD4_uc010wjj.1_Missense_Mutation_p.M1I|ACBD4_uc002iie.2_Missense_Mutation_p.M1I|ACBD4_uc002iif.2_Missense_Mutation_p.M1I|ACBD4_uc002iic.2_Missense_Mutation_p.M1I|ACBD4_uc010dae.2_5'UTR NM_001135707 NP_001129179 Q8NC06 ACBD4_HUMAN acyl-Coenzyme A binding domain containing 4 1 fatty-acyl-CoA binding ovary(1)|kidney(1) 2 GCAGCAGCATGGGCACCGAGA 0.627 NA 7 30 0.00198382 0.00206488 0.001984 1 0 CRHR1 1394 broad.mit.edu 37 17 43910522 43910522 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr17:43910522G>T uc010dap.2 + 10 1141 c.876G>T c.(874-876)AGG>AGT p.R292S CRHR1_uc010wjx.1_Missense_Mutation_p.R88S|CRHR1_uc002ijp.2_Missense_Mutation_p.R162S|CRHR1_uc002ijm.2_Missense_Mutation_p.R263S|CRHR1_uc002ijn.2_Missense_Mutation_p.R223S|CRHR1_uc010dar.2_Missense_Mutation_p.R263S|CRHR1_uc010dao.2_Missense_Mutation_p.R162S|CRHR1_uc010daq.2_Missense_Mutation_p.R88S NM_001145146 NP_001138618 P34998 CRFR1_HUMAN corticotropin releasing hormone receptor 1 292 Extracellular (Potential). female pregnancy|immune response|parturition integral to plasma membrane corticotrophin-releasing factor receptor activity|protein binding lung(3) 3 Colorectal(2;0.0416) BRCA - Breast invasive adenocarcinoma(366;0.161) TTGGCAAAAGGCCTGGGGTGT 0.552 Ovarian(110;57 1568 10207 38216 49865) NA 12 144 1.36491e-13 1.75696e-13 0.001855 1 0 C17orf57 124989 broad.mit.edu 37 17 45447856 45447856 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr17:45447856G>C uc002iln.2 + 11 1270 c.859G>C c.(859-861)GAA>CAA p.E287Q C17orf57_uc002ilm.2_Missense_Mutation_p.E191Q|C17orf57_uc002ill.1_Missense_Mutation_p.E43Q|C17orf57_uc010daz.1_Missense_Mutation_p.E239Q NM_152347 NP_689560 Q8IY85 CQ057_HUMAN hypothetical protein LOC124989 287 calcium ion binding breast(1)|central_nervous_system(1)|skin(1) 3 TGAGCTACAGGAACAGTATGA 0.274 NA 3 22 0 0 0.004672 0 0 TBX21 30009 broad.mit.edu 37 17 45822468 45822468 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr17:45822468C>A uc002ilv.1 + 6 1555 c.1344C>A c.(1342-1344)TTC>TTA p.F448L NM_013351 NP_037483 Q9UL17 TBX21_HUMAN T-box 21 448 lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding 0 CCAGCTGGTTCCGCCCTATGC 0.677 NA 17 36 1.99824e-07 2.3286e-07 0.00499 1 0 PNPO 55163 broad.mit.edu 37 17 46019090 46019090 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr17:46019090G>A uc002imo.2 + 1 202 c.49G>A c.(49-51)GAG>AAG p.E17K PNPO_uc010wkz.1_Missense_Mutation_p.E17K|PNPO_uc010wla.1_5'UTR|PNPO_uc010wlb.1_Missense_Mutation_p.E17K NM_018129 NP_060599 Q9NVS9 PNPO_HUMAN pyridoxine 5'-phosphate oxidase 17 pyridoxine biosynthetic process cytosol FMN binding|pyridoxamine-phosphate oxidase activity 0 Pyridoxal Phosphate(DB00114) GCGACCTGCCGAGTGGCCAGG 0.706 NA 3 3 0 0 0.004672 0 0 CACNA1G 8913 broad.mit.edu 37 17 48655845 48655845 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr17:48655845G>T uc002irk.1 + 9 2593 c.2221G>T c.(2221-2223)GAC>TAC p.D741Y CACNA1G_uc002iri.1_Missense_Mutation_p.D741Y|CACNA1G_uc002irj.1_Missense_Mutation_p.D741Y|CACNA1G_uc002irl.1_Missense_Mutation_p.D741Y|CACNA1G_uc002irm.1_Missense_Mutation_p.D741Y|CACNA1G_uc002irn.1_Missense_Mutation_p.D741Y|CACNA1G_uc002iro.1_Missense_Mutation_p.D741Y|CACNA1G_uc002irp.1_Missense_Mutation_p.D741Y|CACNA1G_uc002irq.1_Missense_Mutation_p.D741Y|CACNA1G_uc002irr.1_Missense_Mutation_p.D741Y|CACNA1G_uc002irs.1_Missense_Mutation_p.D741Y|CACNA1G_uc002irt.1_Missense_Mutation_p.D741Y|CACNA1G_uc002irv.1_Missense_Mutation_p.D741Y|CACNA1G_uc002irw.1_Missense_Mutation_p.D741Y|CACNA1G_uc002iru.1_Missense_Mutation_p.D741Y|CACNA1G_uc002irx.1_Missense_Mutation_p.D654Y|CACNA1G_uc002iry.1_Missense_Mutation_p.D654Y|CACNA1G_uc002irz.1_Missense_Mutation_p.D654Y|CACNA1G_uc002isa.1_Missense_Mutation_p.D654Y|CACNA1G_uc002isb.1_Missense_Mutation_p.D654Y|CACNA1G_uc002isc.1_Missense_Mutation_p.D654Y|CACNA1G_uc002isd.1_Missense_Mutation_p.D654Y|CACNA1G_uc002ise.1_Missense_Mutation_p.D654Y|CACNA1G_uc002isf.1_Missense_Mutation_p.D654Y|CACNA1G_uc002isg.1_Missense_Mutation_p.D654Y|CACNA1G_uc002ish.1_Missense_Mutation_p.D654Y|CACNA1G_uc002isi.1_Missense_Mutation_p.D654Y NM_018896 NP_061496 O43497 CAC1G_HUMAN voltage-dependent calcium channel alpha 1G 741 Cytoplasmic (Potential).|II. axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(1) 1 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) AAAGATTGTGGACAGCAAGTA 0.597 NA 12 73 3.07112e-06 3.46216e-06 0.010729 1 0 ABCC3 8714 broad.mit.edu 37 17 48761448 48761448 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr17:48761448C>G uc002isl.2 + 28 4173 c.4093C>G c.(4093-4095)CAG>GAG p.Q1365E ABCC3_uc002isn.2_Missense_Mutation_p.Q119E NM_003786 NP_003777 O15438 MRP3_HUMAN ATP-binding cassette, sub-family C, member 3 1365 Cytoplasmic (By similarity).|ABC transporter 2. bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity skin(3)|central_nervous_system(1) 4 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) CCTGCGCTCTCAGCTGACCAT 0.602 NA 13 34 0 0 0.013537 0 0 VEZF1 7716 broad.mit.edu 37 17 56058018 56058018 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr17:56058018G>C uc002ivf.1 - 4 1065 c.922C>G c.(922-924)CAT>GAT p.H308D VEZF1_uc010dcn.1_Missense_Mutation_p.H158D NM_007146 NP_009077 Q14119 VEZF1_HUMAN zinc finger protein 161 308 C2H2-type 6. cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding ovary(1)|breast(1) 2 CTCTGCCCATGAGTCTTTAAG 0.443 NA 8 56 0 0 0.006214 0 0 TRIM37 4591 broad.mit.edu 37 17 57126552 57126552 + Missense_Mutation SNP T T C rs77807605 TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr17:57126552T>C uc002iwy.3 - 15 1961 c.1517A>G c.(1516-1518)AAT>AGT p.N506S TRIM37_uc002iwz.3_Missense_Mutation_p.N506S|TRIM37_uc002ixa.3_Missense_Mutation_p.N384S|TRIM37_uc010woc.1_Missense_Mutation_p.N472S NM_001005207 NP_001005207 O94972 TRI37_HUMAN tripartite motif-containing 37 protein 506 perinuclear region of cytoplasm|peroxisome ligase activity|protein binding|zinc ion binding lung(2)|pancreas(2)|ovary(1)|skin(1)|breast(1) 7 Medulloblastoma(34;0.0922)|all_neural(34;0.101) ATAATCTTCATTCTGAATCTT 0.363 NA Mulibrey_Nanism 7 31 0 0 0.00308 0 0 YPEL2 388403 broad.mit.edu 37 17 57430790 57430790 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr17:57430790C>G uc002ixm.1 + 2 348 c.20C>G c.(19-21)TCG>TGG p.S7W YPEL2_uc002ixl.1_Missense_Mutation_p.S7W NM_001005404 NP_001005404 Q96QA6 YPEL2_HUMAN yippee-like 2 7 nucleolus 0 all_neural(34;0.0837)|Medulloblastoma(34;0.0922) ATGACAAGATCGAAGACTTTC 0.547 Melanoma(86;1113 1364 8518 42220 42625) NA 12 68 0 0 0.010729 0 0 TUBD1 51174 broad.mit.edu 37 17 57958297 57958297 + Silent SNP T T G rs142691296 TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr17:57958297T>G uc002ixw.1 - 4 773 c.495A>C c.(493-495)TCA>TCC p.S165S TUBD1_uc010ddf.1_Silent_p.S165S|TUBD1_uc010ddg.1_Silent_p.S130S|TUBD1_uc010ddh.1_Silent_p.S46S|TUBD1_uc010wok.1_Silent_p.S165S|TUBD1_uc002ixx.1_Silent_p.S165S|TUBD1_uc010wol.1_Intron|TUBD1_uc010ddi.1_Intron NM_016261 NP_057345 Q9UJT1 TBD_HUMAN delta-tubulin 165 cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis centriole|microtubule|nucleus GTP binding|GTPase activity|structural molecule activity ovary(1) 1 all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;9.34e-13)|all cancers(12;1.91e-11) TCATTTTCAATGAGTTTGAGT 0.343 NA 58 106 0 0 0.01441 0 0 BCAS3 54828 broad.mit.edu 37 17 58786579 58786579 + Splice_Site SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr17:58786579G>A uc002iyv.3 + 5 324 c.215_splice c.e5-1 p.D72_splice BCAS3_uc010wow.1_Intron|BCAS3_uc002iyu.3_Splice_Site_p.D72_splice|BCAS3_uc002iyw.3_Splice_Site_p.D68_splice NM_001099432 NP_001092902 Q9H6U6 BCAS3_HUMAN breast carcinoma amplified sequence 3 isoform 1 nucleus ovary(2)|central_nervous_system(2)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06) TTCTAATGCAGATACATCAAG 0.328 NA 14 32 0 0 0.003163 0 0 SMURF2 64750 broad.mit.edu 37 17 62558992 62558992 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr17:62558992C>T uc002jep.1 - 11 1497 c.1109G>A c.(1108-1110)CGA>CAA p.R370Q SMURF2_uc002jeq.1_Missense_Mutation_p.R129Q|SMURF2_uc002jer.1_Missense_Mutation_p.R129Q NM_022739 NP_073576 Q9HAU4 SMUF2_HUMAN SMAD specific E3 ubiquitin protein ligase 2 370 BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex identical protein binding|SMAD binding|ubiquitin-protein ligase activity skin(3)|lung(1) 4 Breast(5;1.32e-14) BRCA - Breast invasive adenocarcinoma(8;9.88e-12) AACCAGGTCTCGCTTGTACCT 0.463 NA 7 37 0 0 0.00308 0 0 RGS9 8787 broad.mit.edu 37 17 63189700 63189700 + Silent SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr17:63189700C>T uc002jfe.2 + 12 896 c.786C>T c.(784-786)GCC>GCT p.A262A RGS9_uc010dem.2_Silent_p.A259A|RGS9_uc002jfd.2_Silent_p.A259A|RGS9_uc002jff.2_RNA|RGS9_uc002jfg.2_Silent_p.A33A NM_003835 NP_003826 O75916 RGS9_HUMAN regulator of G-protein signaling 9 isoform 1 262 G protein gamma. intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity ovary(2)|skin(2) 4 CCAACGATGCCATCATGTCAG 0.423 NA 6 25 0 0 0.00308 0 0 ABCA9 10350 broad.mit.edu 37 17 67012515 67012515 + Missense_Mutation SNP A A T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr17:67012515A>T uc002jhu.2 - 22 3061 c.2918T>A c.(2917-2919)ATA>AAA p.I973K ABCA9_uc010dez.2_Missense_Mutation_p.I973K NM_080283 NP_525022 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A, member 9 973 transport integral to membrane ATP binding|ATPase activity ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1) 6 Breast(10;1.47e-12) ATTACATGCTATTGAAAATCT 0.343 NA 4 34 0 0 0.009096 0 0 SDK2 54549 broad.mit.edu 37 17 71427710 71427711 + Missense_Mutation DNP CC CC AT TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr17:71427710_71427711CC>AT uc010dfm.2 - 11 1410_1411 c.1410_1411GG>AT c.(1408-1413)GCGGGG>GCATGG p.G471W SDK2_uc010dfn.2_Missense_Mutation_p.G150W NM_001144952 NP_001138424 Q58EX2 SDK2_HUMAN sidekick 2 471 Ig-like C2-type 5.|Extracellular (Potential). cell adhesion integral to membrane ovary(2) 2 GTGTAGGTCCCCGCATCGGAGA 0.629 NA 63 190 0 0 0.004672 0 0 TTYH2 94015 broad.mit.edu 37 17 72233616 72233616 + Nonsense_Mutation SNP A A T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr17:72233616A>T uc002jkc.2 + 4 629 c.598A>T c.(598-600)AAG>TAG p.K200* TTYH2_uc010wqw.1_Nonsense_Mutation_p.K179* NM_032646 NP_116035 Q9BSA4 TTYH2_HUMAN tweety 2 isoform 1 200 Extracellular (Potential). chloride channel complex|plasma membrane chloride channel activity|protein binding ovary(3)|large_intestine(1) 4 GGAGCTGACCAAGCTATCCGA 0.572 NA 11 59 0 0 0.013537 0 0 CD300A 11314 broad.mit.edu 37 17 72469792 72469792 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr17:72469792C>T uc002jkv.2 + 2 479 c.158C>T c.(157-159)CCA>CTA p.P53L CD300A_uc002jkw.2_Intron|CD300A_uc010dfr.2_Intron|CD300A_uc010dfs.2_Intron NM_007261 NP_009192 Q9UGN4 CLM8_HUMAN leukocyte membrane antigen 53 Extracellular (Potential).|Ig-like V-type. cell adhesion integral to membrane|plasma membrane receptor activity ovary(1)|skin(1) 2 TGCAGACCACCACAGATTTTC 0.547 NA 18 96 0 0 0.006122 0 0 FADS6 283985 broad.mit.edu 37 17 72875562 72875562 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr17:72875562G>A uc002jmd.1 - 5 890 c.878C>T c.(877-879)CCC>CTC p.P293L FADS6_uc010wrn.1_Missense_Mutation_p.P147L NM_178128 NP_835229 Q8N9I5 FADS6_HUMAN fatty acid desaturase domain family, member 6 299 fatty acid biosynthetic process integral to membrane oxidoreductase activity 0 all_lung(278;0.172)|Lung NSC(278;0.207) AGAGAGCCTGGGGAATAGATG 0.582 NA 10 53 0 0 0.013537 0 0 LLGL2 3993 broad.mit.edu 37 17 73567113 73567113 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr17:73567113G>T uc002joh.2 + 17 2262 c.2108G>T c.(2107-2109)CGC>CTC p.R703L LLGL2_uc002joi.2_Missense_Mutation_p.R703L|LLGL2_uc010dgg.1_Missense_Mutation_p.R703L|LLGL2_uc002joj.2_Missense_Mutation_p.R692L|LLGL2_uc010wsd.1_Missense_Mutation_p.R330L NM_001031803 NP_001026973 Q6P1M3 L2GL2_HUMAN lethal giant larvae homolog 2 isoform c 703 cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity cytoplasm|intracellular membrane-bounded organelle PDZ domain binding ovary(2) 2 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112) ATCGAGGCTCGCTCGGCAGAG 0.657 NA 57 81 9.53978e-28 1.32553e-27 0.01441 1 0 EXOC7 23265 broad.mit.edu 37 17 74094015 74094015 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr17:74094015C>A uc002jqs.2 - 5 597 c.502G>T c.(502-504)GTG>TTG p.V168L EXOC7_uc010dgv.1_Missense_Mutation_p.V115L|EXOC7_uc002jqq.2_Missense_Mutation_p.V168L|EXOC7_uc010wsw.1_Missense_Mutation_p.V168L|EXOC7_uc010wsx.1_Missense_Mutation_p.V168L|EXOC7_uc002jqr.2_Missense_Mutation_p.V168L|EXOC7_uc010wsv.1_Missense_Mutation_p.V127L|EXOC7_uc002jqu.2_Missense_Mutation_p.V168L NM_001145297 NP_001138769 Q9UPT5 EXOC7_HUMAN exocyst complex component 7 isoform 4 168 exocytosis|protein transport centriolar satellite|cytosol|exocyst|plasma membrane protein binding 0 LUSC - Lung squamous cell carcinoma(166;0.187) AAGATGAGCACGGGCGAGACG 0.592 NA 25 111 3.28513e-13 4.20265e-13 0.003954 1 0 MFSD11 79157 broad.mit.edu 37 17 74740468 74740468 + Silent SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr17:74740468C>T uc002jta.2 + 8 1534 c.561C>T c.(559-561)TTC>TTT p.F187F MFSD11_uc002jtb.2_Silent_p.F187F|MFSD11_uc010dha.2_Silent_p.F135F|MFSD11_uc002jtc.2_Silent_p.F187F|MFSD11_uc002jtd.3_Silent_p.F187F|MFSD11_uc010dhb.2_Silent_p.F135F|MFSD11_uc002jte.2_Silent_p.F187F NM_024311 NP_077287 O43934 MFS11_HUMAN major facilitator superfamily domain containing 187 Helical; (Potential). integral to membrane ovary(1) 1 CAGTTCTATTCTTTCTCATTC 0.418 NA 11 67 0 0 0.008291 0 0 DNAH17 8632 broad.mit.edu 37 17 76455187 76455187 + Missense_Mutation SNP C C G rs145638188 byFrequency TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr17:76455187C>G uc010dhp.1 - 6 979 c.757G>C c.(757-759)GAG>CAG p.E253Q DNAH17_uc002jvs.2_RNA SubName: Full=DNAH17 variant protein; Flags: Fragment; ovary(6)|breast(2)|skin(1) 9 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) CAGTAGACCTCGTAGAAGCGG 0.607 NA 11 221 0 0 0.004007 0 0 Unknown 0 broad.mit.edu 37 17 78265440 78265440 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr17:78265440G>C uc002jyf.2 + 8 1428 c.1285G>C c.(1285-1287)GAC>CAC p.D429H uc002jyg.1_Missense_Mutation_p.D160H NM_020954 NP_066005 hypothetical protein LOC57714 NA CTTGGGTCATGACCGCGTTCT 0.408 NA 23 98 0 0 0.00278 0 0 RNF213 57674 broad.mit.edu 37 17 78357570 78357570 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr17:78357570C>T uc002jyh.1 + 34 8606 c.8383C>T c.(8383-8385)CCA>TCA p.P2795S uc002jyi.1_Intron|RNF213_uc010dhx.1_5'Flank NM_020914 NP_065965 Q9HCF4 ALO17_HUMAN ring finger protein 213 Error:Variant_position_missing_in_Q9HCF4_after_alignment ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1) 21 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) ATATGGTGACCCAGTGACCTT 0.468 NA 3 48 0 0 0.004672 0 0 SLC38A10 124565 broad.mit.edu 37 17 79234101 79234101 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr17:79234101C>T uc002jzz.1 - 11 1600 c.1225G>A c.(1225-1227)GCC>ACC p.A409T SLC38A10_uc002jzy.1_Missense_Mutation_p.A327T|SLC38A10_uc002kab.2_Missense_Mutation_p.A409T NM_001037984 NP_001033073 Q9HBR0 S38AA_HUMAN solute carrier family 38, member 10 isoform a 409 amino acid transport|sodium ion transport integral to membrane pancreas(1)|skin(1) 2 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) CCGCCAGGGGCTTCCTCTGCC 0.657 NA 10 10 0 0 0.008291 0 0 SLC38A10 124565 broad.mit.edu 37 17 79250893 79250893 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr17:79250893C>T uc002jzz.1 - 7 1042 c.667G>A c.(667-669)GTG>ATG p.V223M SLC38A10_uc002jzy.1_Missense_Mutation_p.V141M|SLC38A10_uc002kab.2_Missense_Mutation_p.V223M NM_001037984 NP_001033073 Q9HBR0 S38AA_HUMAN solute carrier family 38, member 10 isoform a 223 amino acid transport|sodium ion transport integral to membrane pancreas(1)|skin(1) 2 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) ATGGTTTTCACTGACGGCTCA 0.572 NA 9 50 0 0 0.008291 0 0 LRRC30 339291 broad.mit.edu 37 18 7231811 7231811 + Silent SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr18:7231811G>T uc010wzk.1 + 1 675 c.675G>T c.(673-675)CCG>CCT p.P225P NM_001105581 NP_001099051 A6NM36 LRC30_HUMAN leucine rich repeat containing 30 225 LRR 7. ovary(1)|liver(1) 2 ACTCCTTCCCGAGGTCGCTTT 0.577 NA 16 53 1.62849e-17 2.16933e-17 0.004007 1 0 C18orf1 753 broad.mit.edu 37 18 13387578 13387578 + Translation_Start_Site SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr18:13387578G>T uc002ksa.2 + 3 525 c.-143G>T c.(-145--141)CAGGT>CATGT C18orf1_uc002ksb.2_Translation_Start_Site NM_181481 NP_852146 O15165 CR001_HUMAN hypothetical protein LOC753 isoform alpha 1 integral to membrane|plasma membrane ovary(2)|skin(1) 3 READ - Rectum adenocarcinoma(73;0.0642) GAGCCGGGCAGGTGGGCCGCG 0.736 NA 5 19 0.00116845 0.00122497 0.001168 1 0 ROCK1 6093 broad.mit.edu 37 18 18550453 18550453 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr18:18550453C>A uc002kte.2 - 23 3617 c.2676G>T c.(2674-2676)TTG>TTT p.L892F NM_005406 NP_005397 Q13464 ROCK1_HUMAN Rho-associated, coiled-coil containing protein 892 Glu-rich. actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction centriole|cytosol|Golgi membrane ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity lung(2)|breast(2)|central_nervous_system(1) 5 Melanoma(1;0.165) CTGCTAGATCCAACTGAGTAG 0.378 NA 9 20 0.000442599 0.000469777 0.006214 1 0 MIB1 57534 broad.mit.edu 37 18 19359454 19359454 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr18:19359454G>A uc002ktq.2 + 6 716 c.716G>A c.(715-717)GGC>GAC p.G239D MIB1_uc002ktp.2_5'UTR NM_020774 NP_065825 Q86YT6 MIB1_HUMAN mindbomb homolog 1 239 Notch signaling pathway centrosome|nuclear membrane|plasma membrane ubiquitin-protein ligase activity|zinc ion binding ovary(4) 4 STAD - Stomach adenocarcinoma(5;0.212) GAGCAGAATGGCAACAGGAAT 0.408 NA 7 42 0 0 0.001984 0 0 ANKRD29 147463 broad.mit.edu 37 18 21214028 21214028 + Missense_Mutation SNP T T C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr18:21214028T>C uc002kun.2 - 5 573 c.416A>G c.(415-417)CAT>CGT p.H139R ANKRD29_uc002kuo.2_Missense_Mutation_p.H139R NM_173505 NP_775776 Q8N6D5 ANR29_HUMAN ankyrin repeat domain 29 139 ANK 4. ovary(3)|breast(1) 4 all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127) AAGTTGGTCATGGATGTTTGC 0.493 NA 10 35 0 0 0.010729 0 0 HRH4 59340 broad.mit.edu 37 18 22040786 22040786 + Nonsense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr18:22040786G>T uc002kvi.2 + 1 194 c.94G>T c.(94-96)GGA>TGA p.G32* HRH4_uc010xbd.1_Nonsense_Mutation_p.G32*|HRH4_uc010dlx.2_Nonsense_Mutation_p.G32* NM_021624 NP_067637 Q9H3N8 HRH4_HUMAN histamine H4 receptor isoform 1 32 Helical; Name=1; (Potential). integral to membrane|plasma membrane histamine receptor activity ovary(2) 2 all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991) Clozapine(DB00363) TATAATGCTAGGAAATGCTTT 0.353 NA 27 49 4.7796e-09 5.7785e-09 0.004656 1 0 ZNF521 25925 broad.mit.edu 37 18 22805686 22805686 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr18:22805686G>T uc002kvk.2 - 4 2443 c.2196C>A c.(2194-2196)GAC>GAA p.D732E ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.D732E|ZNF521_uc002kvl.2_Missense_Mutation_p.D512E NM_015461 NP_056276 Q96K83 ZN521_HUMAN zinc finger protein 521 732 C2H2-type 17. cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding ovary(4)|large_intestine(2)|lung(1) 7 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) AGACTTTTGAGTCAAAAACTT 0.473 NA T PAX5 ALL 4 84 2.56e-06 2.89947e-06 0.009096 1 0 ZNF521 25925 broad.mit.edu 37 18 22807148 22807148 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr18:22807148G>T uc002kvk.2 - 4 981 c.734C>A c.(733-735)ACT>AAT p.T245N ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.T245N|ZNF521_uc002kvl.2_Missense_Mutation_p.T25N NM_015461 NP_056276 Q96K83 ZN521_HUMAN zinc finger protein 521 245 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding ovary(4)|large_intestine(2)|lung(1) 7 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) GCACTTCTGAGTGTCCTTCAT 0.532 NA T PAX5 ALL 20 38 3.5997e-14 4.67092e-14 0.014323 1 0 KCTD1 284252 broad.mit.edu 37 18 24035815 24035815 + Silent SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr18:24035815C>T uc002kvw.2 - 5 1226 c.666G>A c.(664-666)GGG>GGA p.G222G KCTD1_uc010xbj.1_Silent_p.G830G|KCTD1_uc010xbk.1_Silent_p.G222G|KCTD1_uc002kvy.2_3'UTR NM_001136205 NP_001129677 Q719H9 KCTD1_HUMAN potassium channel tetramerisation domain 222 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) CTACTCCTCCCCCACAGGAGC 0.572 NA 7 72 0 0 0.00308 0 0 CDH2 1000 broad.mit.edu 37 18 25589787 25589787 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr18:25589787C>A uc002kwg.2 - 5 1055 c.596G>T c.(595-597)GGG>GTG p.G199V CDH2_uc010xbn.1_Missense_Mutation_p.G168V NM_001792 NP_001783 P19022 CADH2_HUMAN cadherin 2, type 1 preproprotein 199 Cadherin 1.|Extracellular (Potential). 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 AGCTCCTGGCCCAGTTACACT 0.488 NA 13 48 1.5842e-08 1.8979e-08 0.001855 1 0 DSG4 147409 broad.mit.edu 37 18 28993526 28993526 + Silent SNP C C A rs147705128 by1000genomes TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr18:28993526C>A uc002kwq.2 + 16 3226 c.3091C>A c.(3091-3093)CGA>AGA p.R1031R DSG4_uc002kwr.2_Silent_p.R1050R NM_177986 NP_817123 Q86SJ6 DSG4_HUMAN desmoglein 4 isoform 2 preproprotein 1031 Cytoplasmic (Potential). homophilic cell adhesion desmosome|integral to membrane calcium ion binding central_nervous_system(5)|ovary(3) 8 OV - Ovarian serous cystadenocarcinoma(10;0.00504) CAGAGTAACACGATACAGTAA 0.438 NA 23 26 1.55469e-16 2.06157e-16 0.00333 1 0 KLHL14 57565 broad.mit.edu 37 18 30260213 30260213 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr18:30260213C>G uc002kxm.1 - 7 1895 c.1507G>C c.(1507-1509)GAT>CAT p.D503H KLHL14_uc010dmd.1_Missense_Mutation_p.D52H NM_020805 NP_065856 Q9P2G3 KLH14_HUMAN kelch-like 14 503 Kelch 4. cytosol|endoplasmic reticulum membrane ovary(1) 1 GTGTTCATATCTTGTTTTCGA 0.378 NA 11 57 0 0 0.010729 0 0 ASXL3 80816 broad.mit.edu 37 18 31326136 31326136 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr18:31326136G>C uc010dmg.1 + 12 6379 c.6324G>C c.(6322-6324)ATG>ATC p.M2108I ASXL3_uc002kxq.2_Missense_Mutation_p.M1815I NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 2108 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 AGAATGAAATGAAAGAACAGT 0.383 NA 3 86 0 0 0.004672 0 0 DTNA 1837 broad.mit.edu 37 18 32438301 32438301 + Nonsense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr18:32438301C>T uc010dmn.1 + 15 1505 c.1504C>T c.(1504-1506)CAG>TAG p.Q502* DTNA_uc010xbx.1_Nonsense_Mutation_p.Q252*|DTNA_uc002kxv.3_Nonsense_Mutation_p.Q445*|DTNA_uc002kxw.2_Nonsense_Mutation_p.Q445*|DTNA_uc010dmj.2_Nonsense_Mutation_p.Q442*|DTNA_uc002kxz.2_Nonsense_Mutation_p.Q442*|DTNA_uc002kxy.2_Nonsense_Mutation_p.Q442*|DTNA_uc010dml.2_Nonsense_Mutation_p.Q442*|DTNA_uc002kyb.3_Nonsense_Mutation_p.Q499*|DTNA_uc010dmm.2_Nonsense_Mutation_p.Q502*|DTNA_uc010xby.1_Nonsense_Mutation_p.Q192*|DTNA_uc010dmo.2_Nonsense_Mutation_p.Q124*|DTNA_uc002kyd.3_Nonsense_Mutation_p.Q124*|DTNA_uc010xbz.1_Nonsense_Mutation_p.Q211*|DTNA_uc010xca.1_Nonsense_Mutation_p.Q154*|DTNA_uc002kye.2_Nonsense_Mutation_p.Q150* NM_001390 NP_001381 Q9Y4J8 DTNA_HUMAN dystrobrevin alpha isoform 1 502 Potential. neuromuscular synaptic transmission|signal transduction|striated muscle contraction cell junction|cytoplasm|synapse calcium ion binding|protein binding|zinc ion binding 0 ACAAGCTTCTCAGCCCACGCC 0.512 NA 11 51 0 0 0.013537 0 0 ELP2 55250 broad.mit.edu 37 18 33734940 33734940 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr18:33734940G>T uc002kzk.1 + 12 1263 c.1253G>T c.(1252-1254)TGG>TTG p.W418L ELP2_uc010xcg.1_Missense_Mutation_p.W483L|ELP2_uc002kzl.1_RNA|ELP2_uc002kzm.1_Missense_Mutation_p.W392L|ELP2_uc010xch.1_Missense_Mutation_p.W413L|ELP2_uc002kzn.1_Missense_Mutation_p.W348L|ELP2_uc002kzo.1_Missense_Mutation_p.W348L NM_018255 NP_060725 Q6IA86 ELP2_HUMAN elongator protein 2 418 WD 8. regulation of transcription from RNA polymerase II promoter Golgi apparatus|transcription elongation factor complex breast(2)|ovary(1)|skin(1) 4 TTTGCTCCATGGAAGAGAAAA 0.274 NA 15 22 6.31663e-08 7.4567e-08 0.003163 1 0 SYT4 6860 broad.mit.edu 37 18 40851705 40851705 + Silent SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr18:40851705C>A uc002law.2 - 3 1311 c.942G>T c.(940-942)CTG>CTT p.L314L SYT4_uc010dng.2_RNA|SYT4_uc010xcm.1_Silent_p.L296L|SYT4_uc010dnh.2_Intron NM_020783 NP_065834 Q9H2B2 SYT4_HUMAN synaptotagmin IV 314 C2 2.|Cytoplasmic (Potential). cell junction|integral to membrane|synaptic vesicle membrane transporter activity skin(5) 5 CAGATTTAGGCAGATGTCGAG 0.428 NSCLC(85;81 1419 2855 22820 35912) NA 6 23 8.12818e-05 8.78788e-05 0.001984 1 0 SETBP1 26040 broad.mit.edu 37 18 42530068 42530068 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr18:42530068G>C uc010dni.2 + 4 1059 c.763G>C c.(763-765)GAG>CAG p.E255Q NM_015559 NP_056374 Q9Y6X0 SETBP_HUMAN SET binding protein 1 isoform a 255 nucleus DNA binding upper_aerodigestive_tract(2)|large_intestine(1) 3 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) CCCCGCTCTTGAGCCCGTGGC 0.537 NA Schinzel-Giedion_syndrome 31 88 0 0 0.008361 0 0 SLC14A2 8170 broad.mit.edu 37 18 43223121 43223121 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr18:43223121C>T uc010dnj.2 + 10 1472 c.1151C>T c.(1150-1152)GCA>GTA p.A384V SLC14A2_uc002lbb.2_Missense_Mutation_p.A384V|SLC14A2_uc002lbe.2_Missense_Mutation_p.A384V NM_007163 NP_009094 Q15849 UT2_HUMAN solute carrier family 14 (urea transporter), 384 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 TACATGGAAGCAGCCATCTCC 0.542 NA 9 28 0 0 0.006214 0 0 ATP5A1 498 broad.mit.edu 37 18 43669547 43669547 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr18:43669547C>G uc002lbr.1 - 5 725 c.635G>C c.(634-636)GGT>GCT p.G212A ATP5A1_uc010dnl.1_Missense_Mutation_p.G162A|ATP5A1_uc002lbs.1_Missense_Mutation_p.G162A|ATP5A1_uc002lbt.1_Missense_Mutation_p.G212A|ATP5A1_uc010xct.1_Missense_Mutation_p.G162A|ATP5A1_uc010dnm.1_RNA NM_004046 NP_004037 P25705 ATPA_HUMAN ATP synthase, H+ transporting, mitochondrial F1 212 ATP (By similarity). ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain mitochondrial matrix|plasma membrane ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism 0 CTGTCGGTCACCAATAATCAG 0.408 NA 5 34 0 0 0.000602 0 0 TCEB3B 51224 broad.mit.edu 37 18 44560240 44560240 + Missense_Mutation SNP A A T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr18:44560240A>T uc002lcr.1 - 1 1749 c.1396T>A c.(1396-1398)TCA>ACA p.S466T KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron NM_016427 NP_057511 Q8IYF1 ELOA2_HUMAN elongin A2 466 regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding ovary(2)|large_intestine(1)|pancreas(1) 4 CAGGCCTCTGAGAGGTCCCAG 0.602 NA 21 115 0 0 0.010504 0 0 ST8SIA3 51046 broad.mit.edu 37 18 55024197 55024197 + Missense_Mutation SNP A A G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr18:55024197A>G uc002lgn.2 + 3 713 c.356A>G c.(355-357)AAT>AGT p.N119S NM_015879 NP_056963 O43173 SIA8C_HUMAN ST8 alpha-N-acetyl-neuraminide 119 Lumenal (Potential). glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity breast(1)|skin(1) 2 READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205) TTGACCAAGAATAGTGTTCGG 0.333 NA 10 31 0 0 0.006214 0 0 VPS4B 9525 broad.mit.edu 37 18 61060776 61060776 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr18:61060776C>T uc002lix.2 - 10 1359 c.1099G>A c.(1099-1101)GGA>AGA p.G367R NM_004869 NP_004860 O75351 VPS4B_HUMAN vacuolar protein sorting factor 4B 367 cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane ATP binding|ATPase activity, coupled|protein C-terminus binding ovary(1) 1 CGGGAAGGTCCGCGAACCTGA 0.388 NA 6 40 0 0 0.00308 0 0 SERPINB13 5275 broad.mit.edu 37 18 61264475 61264475 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr18:61264475G>A uc002ljc.2 + 8 1222 c.1054G>A c.(1054-1056)GGC>AGC p.G352S SERPINB13_uc002ljd.2_Missense_Mutation_p.G216S|SERPINB13_uc010xep.1_Missense_Mutation_p.G361S|SERPINB13_uc010xeq.1_Missense_Mutation_p.G173S|SERPINB13_uc010xer.1_Missense_Mutation_p.G173S NM_012397 NP_036529 Q9UIV8 SPB13_HUMAN serine (or cysteine) proteinase inhibitor, clade 352 regulation of proteolysis|response to UV cytoplasm|extracellular region serine-type endopeptidase inhibitor activity ovary(1) 1 CACCGGCATAGGCTTTACTGT 0.522 NA 10 47 0 0 0.006214 0 0 SERPINB4 6318 broad.mit.edu 37 18 61305166 61305166 + Silent SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr18:61305166G>A uc002ljf.2 - 8 1046 c.960C>T c.(958-960)AGC>AGT p.S320S SERPINB4_uc002lje.2_Silent_p.S299S|SERPINB4_uc002ljg.2_Silent_p.S320S NM_002974 NP_002965 P48594 SPB4_HUMAN serine (or cysteine) proteinase inhibitor, clade 320 immune response|regulation of proteolysis cytoplasm|extracellular region protein binding|serine-type endopeptidase inhibitor activity ovary(2)|lung(1) 3 AGAGACCGTGGCTCCAGGTCA 0.507 NA 10 28 0 0 0.008291 0 0 DSEL 92126 broad.mit.edu 37 18 65180123 65180123 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr18:65180123G>A uc002lke.1 - 2 2977 c.1753C>T c.(1753-1755)CTC>TTC p.L585F NM_032160 NP_115536 Q8IZU8 DSEL_HUMAN dermatan sulfate epimerase-like 575 integral to membrane isomerase activity|sulfotransferase activity ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(42;0.129) GAATTTAAGAGAAGCAAAGCA 0.403 NA 4 41 0 0 0.000602 0 0 ZNF407 55628 broad.mit.edu 37 18 72346391 72346391 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr18:72346391C>G uc002llw.2 + 1 3473 c.3416C>G c.(3415-3417)TCT>TGT p.S1139C ZNF407_uc010xfc.1_Missense_Mutation_p.S1139C|ZNF407_uc010dqu.1_Missense_Mutation_p.S1139C|ZNF407_uc002llu.2_Missense_Mutation_p.S1138C NM_017757 NP_060227 Q9C0G0 ZN407_HUMAN zinc finger protein 407 isoform 1 1139 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) TTAGATATGTCTAAAGTGCTC 0.358 NA 6 28 0 0 0.001168 0 0 ZNF516 9658 broad.mit.edu 37 18 74091694 74091694 + Silent SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr18:74091694G>A uc010dqx.1 - 3 2611 c.2376C>T c.(2374-2376)CCC>CCT p.P792P ZNF516_uc002lme.2_RNA|ZNF516_uc002lmd.2_RNA NM_014643 NP_055458 Q92618 ZN516_HUMAN zinc finger protein 516 792 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Prostate(75;0.0869)|Esophageal squamous(42;0.129) OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238) GAATCCACGGGGGAGCCACGG 0.597 NA 7 28 0 0 0.001984 0 0 SALL3 27164 broad.mit.edu 37 18 76754521 76754521 + Nonsense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr18:76754521G>T uc002lmt.2 + 2 2530 c.2530G>T c.(2530-2532)GAG>TAG p.E844* SALL3_uc010dra.2_Nonsense_Mutation_p.E451* NM_171999 NP_741996 Q9BXA9 SALL3_HUMAN sal-like 3 844 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) TGCCGCCCTGGAGAACCAGAT 0.667 NA 12 40 3.07112e-06 3.46216e-06 0.010729 1 0 CTDP1 9150 broad.mit.edu 37 18 77473099 77473099 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr18:77473099G>T uc002lnh.1 + 7 1138 c.991G>T c.(991-993)GCG>TCG p.A331S CTDP1_uc002lni.1_Missense_Mutation_p.A331S|CTDP1_uc010drd.1_Missense_Mutation_p.A331S NM_004715 NP_004706 Q9Y5B0 CTDP1_HUMAN CTD (carboxy-terminal domain, RNA polymerase II, 331 FCP1 homology. positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm CTD phosphatase activity|DNA-directed RNA polymerase activity 0 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277) TGATATGAATGCGCCCCCTGG 0.443 NA 6 18 0.00116845 0.00122497 0.001168 1 0 ADNP2 22850 broad.mit.edu 37 18 77894747 77894747 + Nonsense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr18:77894747C>G uc002lnw.2 + 4 1906 c.1451C>G c.(1450-1452)TCA>TGA p.S484* NM_014913 NP_055728 Q6IQ32 ADNP2_HUMAN ADNP homeobox 2 484 cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|breast(3)|central_nervous_system(1) 8 all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2) Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164) ATGGTCCAGTCAGGAGTTCTC 0.607 NA 15 85 0 0 0.003163 0 0 PCSK4 54760 broad.mit.edu 37 19 1483437 1483437 + Missense_Mutation SNP T T C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr19:1483437T>C uc002ltb.1 - 12 1479 c.1417A>G c.(1417-1419)AGG>GGG p.R473G PCSK4_uc002lsz.2_5'UTR|PCSK4_uc002lta.2_Missense_Mutation_p.R285G NM_017573 NP_060043 Q6UW60 PCSK4_HUMAN proprotein convertase subtilisin/kexin type 4 473 proteolysis integral to membrane serine-type endopeptidase activity 0 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ACGTTTTCCCTGATGTAGATC 0.701 NA 29 23 0 0 0.004878 0 0 ZNF554 115196 broad.mit.edu 37 19 2832300 2832300 + Splice_Site SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr19:2832300G>A uc002lwm.2 + 4 452 c.254_splice c.e4-1 p.E85_splice ZNF554_uc002lwl.2_Splice_Site_p.E34_splice NM_001102651 NP_001096121 Q86TJ5 ZN554_HUMAN zinc finger protein 554 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GTCTTTTTCAGAAGCCTTGAA 0.348 NA 40 33 0 0 0.00623 0 0 MUC16 94025 broad.mit.edu 37 19 8982214 8982214 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr19:8982214G>T uc002mkp.2 - 70 42265 c.42061C>A c.(42061-42063)CAT>AAT p.H14021N MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.H838N|MUC16_uc010xki.1_RNA NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 14046 Extracellular (Potential).|SEA 13. Missing (in Ref. 3; AAK74120). 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 GTGATGCCATGGGTCTGCTGG 0.632 NA 14 27 1.05317e-09 1.28397e-09 0.00245 1 0 MUC16 94025 broad.mit.edu 37 19 9072073 9072073 + Nonsense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr19:9072073C>A uc002mkp.2 - 3 15577 c.15373G>T c.(15373-15375)GAG>TAG p.E5125* NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 5127 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 ACATTGGTCTCTTCTGTGTTT 0.438 NA 44 53 1.59932e-28 2.22435e-28 0.007835 1 0 ANGPTL6 83854 broad.mit.edu 37 19 10205580 10205580 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr19:10205580G>T uc002mmx.1 - 3 735 c.617C>A c.(616-618)CCG>CAG p.P206Q ANGPTL6_uc002mmy.1_Missense_Mutation_p.P206Q NM_031917 NP_114123 Q8NI99 ANGL6_HUMAN angiopoietin-like 6 precursor 206 angiogenesis|cell differentiation|signal transduction extracellular space receptor binding 0 OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05) AAGACGGACCGGAACCACAGG 0.632 NA 21 18 1.00905e-13 1.30003e-13 0.008871 1 0 KEAP1 9817 broad.mit.edu 37 19 10602328 10602328 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr19:10602328C>T uc002moq.1 - 3 1406 c.1250G>A c.(1249-1251)GGG>GAG p.G417E KEAP1_uc002mop.1_Missense_Mutation_p.G135E|KEAP1_uc002mor.1_Missense_Mutation_p.G417E NM_012289 NP_036421 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 417 Kelch 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding lung(12)|breast(3)|ovary(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) GACCCCCACCCCGATGCGGTT 0.667 NA 13 12 0 0 0.001855 0 0 ACP5 54 broad.mit.edu 37 19 11687567 11687568 + Missense_Mutation DNP GA GA AT TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 GA GA - - GA GA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr19:11687567_11687568GA>AT uc002msg.3 - 3 498_499 c.352_353TC>AT c.(352-354)TCT>ATT p.S118I ACP5_uc002msh.3_Missense_Mutation_p.S118I|ACP5_uc002msi.3_Missense_Mutation_p.S118I|ACP5_uc002msj.3_Missense_Mutation_p.S118I|ACP5_uc010dye.1_3'UTR NM_001611 NP_001602 P13686 PPA5_HUMAN acid phosphatase 5, tartrate resistant 118 water-soluble vitamin metabolic process cytosol|integral to membrane|lysosome acid phosphatase activity|ferric iron binding|ferrous iron binding central_nervous_system(1) 1 AATCTGGGCAGAGACATTGCCA 0.569 NA 20 97 0 0 0.004672 0 0 ZNF491 126069 broad.mit.edu 37 19 11917571 11917571 + Missense_Mutation SNP A A T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr19:11917571A>T uc002mso.1 + 3 1088 c.803A>T c.(802-804)GAG>GTG p.E268V NM_152356 NP_689569 Q8N8L2 ZN491_HUMAN zinc finger protein 491 268 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 CACACTGGAGAGAGGCCTCAT 0.413 NA 26 25 0 0 0.00632 0 0 ZNF799 90576 broad.mit.edu 37 19 12502558 12502558 + Silent SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr19:12502558C>A uc010dyt.2 - 4 804 c.654G>T c.(652-654)ACG>ACT p.T218T ZNF799_uc002mts.3_Intron NM_001080821 NP_001074290 Q96GE5 ZN799_HUMAN zinc finger protein 799 218 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|ovary(2)|skin(1) 6 CTCCAGTGTGCGTTCTCTCAT 0.403 NA 28 35 8.24728e-16 1.0847e-15 0.004656 1 0 RFX1 5989 broad.mit.edu 37 19 14077445 14077445 + Silent SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr19:14077445C>T uc002mxv.2 - 13 2123 c.1851G>A c.(1849-1851)GAG>GAA p.E617E NM_002918 NP_002909 P22670 RFX1_HUMAN regulatory factor X1 617 immune response nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity lung(1)|pancreas(1) 2 OV - Ovarian serous cystadenocarcinoma(19;6.67e-23) GCCACCCTACCTCACAGTGTT 0.677 NA 27 42 0 0 0.00632 0 0 CLEC17A 388512 broad.mit.edu 37 19 14710889 14710889 + Silent SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr19:14710889C>G uc010dzn.1 + 12 866 c.789C>G c.(787-789)GGC>GGG p.G263G CLEC17A_uc002mzh.1_Silent_p.G246G|CLEC17A_uc010xnt.1_RNA|CLEC17A_uc010xnu.1_Intron|CLEC17A_uc010dzo.1_Silent_p.G263G Q6ZS10 CL17A_HUMAN SubName: Full=CLEC17A protein; 263 C-type lectin.|Extracellular (Potential). cell surface|integral to membrane fucose binding|mannose binding|metal ion binding|receptor activity 0 CCTTTGAGGGCAAGTGTTACT 0.532 NA 14 35 0 0 0.004007 0 0 BRD4 23476 broad.mit.edu 37 19 15366997 15366997 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr19:15366997C>G uc002nar.2 - 9 1851 c.1629G>C c.(1627-1629)AAG>AAC p.K543N BRD4_uc002nas.2_Missense_Mutation_p.K543N|BRD4_uc002nat.3_Missense_Mutation_p.K543N|BRD4_uc002nau.3_Missense_Mutation_p.K543N NM_058243 NP_490597 O60885 BRD4_HUMAN bromodomain-containing protein 4 isoform long 543 Lys-rich. 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) tcttttccttcttgtctttct 0.199 NA T NUT|C15orf55 lethal midline carcinoma of young people 17 52 0 0 0.004007 0 0 CYP4F3 4051 broad.mit.edu 37 19 15756552 15756552 + Silent SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr19:15756552C>G uc002nbj.2 + 3 272 c.222C>G c.(220-222)CTC>CTG p.L74L CYP4F3_uc010xok.1_Intron|CYP4F3_uc010xol.1_Intron|CYP4F3_uc010xom.1_Intron|CYP4F3_uc002nbk.2_Intron NM_000896 NP_000887 Q08477 CP4F3_HUMAN cytochrome P450, family 4, subfamily F, 74 leukotriene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding ovary(3) 3 AGGAAGGTCTCCTATACACAC 0.557 NA 13 88 0 0 0.00245 0 0 FCHO1 23149 broad.mit.edu 37 19 17893966 17893966 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr19:17893966C>A uc010ebb.2 + 23 2267 c.2078C>A c.(2077-2079)GCC>GAC p.A693D FCHO1_uc002nhg.3_Missense_Mutation_p.A693D|FCHO1_uc002nhh.2_Missense_Mutation_p.A693D|FCHO1_uc010xpw.1_Missense_Mutation_p.A643D|FCHO1_uc002nhi.2_Missense_Mutation_p.A149D|FCHO1_uc002nhj.2_Missense_Mutation_p.A37D NM_001161358 NP_001154830 O14526 FCHO1_HUMAN FCH domain only 1 isoform b 693 breast(1) 1 CAGCCCAACGCCGATCTGCTG 0.617 NA 25 30 6.12954e-19 8.24082e-19 0.004656 1 0 KCNN1 3780 broad.mit.edu 37 19 18092827 18092827 + Missense_Mutation SNP A A T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr19:18092827A>T uc002nht.2 + 5 1118 c.808A>T c.(808-810)ACG>TCG p.T270S KCNN1_uc010xqa.1_Missense_Mutation_p.T270S NM_002248 NP_002239 Q92952 KCNN1_HUMAN potassium intermediate/small conductance 270 synaptic transmission voltage-gated potassium channel complex calmodulin binding|small conductance calcium-activated potassium channel activity 0 CACCTTCAACACGCGCTTCGT 0.612 NA 3 10 0 0 0.004672 0 0 ZNF93 81931 broad.mit.edu 37 19 20045245 20045245 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr19:20045245C>G uc002non.2 + 4 1592 c.1481C>G c.(1480-1482)TCT>TGT p.S494C NM_031218 NP_112495 P35789 ZNF93_HUMAN zinc finger protein 93 494 C2H2-type 13. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding pancreas(1) 1 AACCAGTCCTCTTCCCTTACT 0.368 NA 4 24 0 0 0.009096 0 0 ZNF682 91120 broad.mit.edu 37 19 20118030 20118030 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr19:20118030G>A uc002noq.2 - 4 404 c.281C>T c.(280-282)TCA>TTA p.S94L ZNF682_uc002noo.2_Missense_Mutation_p.S62L|ZNF682_uc002nop.2_Missense_Mutation_p.S62L|ZNF682_uc010eck.2_Missense_Mutation_p.S18L NM_033196 NP_149973 O95780 ZN682_HUMAN zinc finger protein 682 isoform 1 94 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 TTTTTGGAATGAATCTTGCAT 0.368 NA 5 19 0 0 0.000602 0 0 ZNF676 163223 broad.mit.edu 37 19 22363185 22363185 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr19:22363185C>A uc002nqs.1 - 3 1652 c.1334G>T c.(1333-1335)GGA>GTA p.G445V NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 445 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) GGGTTTCTCTCCAGCATGAAT 0.428 NA 18 47 9.16793e-09 1.10106e-08 0.00499 1 0 ZNF254 9534 broad.mit.edu 37 19 24310356 24310356 + Nonsense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr19:24310356C>G uc002nru.2 + 4 1688 c.1554C>G c.(1552-1554)TAC>TAG p.Y518* ZNF254_uc010xrk.1_Nonsense_Mutation_p.Y433* NM_203282 NP_975011 O75437 ZN254_HUMAN zinc finger protein 254 518 C2H2-type 12. negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186) AGAAACCCTACAAATGTGAAG 0.368 NA 14 15 0 0 0.00245 0 0 TSHZ3 57616 broad.mit.edu 37 19 31769448 31769448 + Silent SNP A A G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr19:31769448A>G uc002nsy.3 - 2 1316 c.1251T>C c.(1249-1251)TCT>TCC p.S417S NM_020856 NP_065907 Q63HK5 TSH3_HUMAN zinc finger protein 537 417 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(2)|pancreas(1)|lung(1) 8 Esophageal squamous(110;0.226) TTTTCATAGCAGAGTTGGTGA 0.567 NA 50 113 0 0 0.01441 0 0 MAG 4099 broad.mit.edu 37 19 35804322 35804322 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr19:35804322G>C uc002nyy.1 + 11 1995 c.1846G>C c.(1846-1848)GAG>CAG p.E616Q MAG_uc002nyx.1_3'UTR|MAG_uc010eds.1_Missense_Mutation_p.E591Q|MAG_uc002nyz.1_Missense_Mutation_p.E616Q NM_002361 NP_002352 P20916 MAG_HUMAN myelin associated glycoprotein isoform a 616 Cytoplasmic (Potential). blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway integral to membrane|plasma membrane sugar binding breast(3)|lung(2)|central_nervous_system(1)|skin(1) 7 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Renal(1328;0.242) Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) GCTGACGGAGGAGCTAGCTGA 0.652 NA 12 50 0 0 0.010729 0 0 ZBTB32 27033 broad.mit.edu 37 19 36205667 36205667 + Silent SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr19:36205667C>T uc002oay.2 + 2 349 c.139C>T c.(139-141)CTA>TTA p.L47L ZBTB32_uc002oaz.2_RNA NM_014383 NP_055198 Q9Y2Y4 ZBT32_HUMAN zinc finger and BTB domain containing 32 47 BTB. DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleoplasm DNA binding|protein binding|transcription corepressor activity|zinc ion binding ovary(1)|skin(1) 2 all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CAGCCTGGTGCTAGCAGGTGT 0.622 NA 19 91 0 0 0.008871 0 0 NFKBID 84807 broad.mit.edu 37 19 36387833 36387833 + Missense_Mutation SNP T T C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr19:36387833T>C uc002oci.1 - 5 708 c.134A>G c.(133-135)CAG>CGG p.Q45R NFKBID_uc002och.1_5'Flank|NFKBID_uc002ocj.1_Missense_Mutation_p.Q60R NM_139239 NP_640332 Q8NI38 IKBD_HUMAN nuclear factor of kappa light polypeptide gene 45 inflammatory response nucleus 0 CTCCTCATCCTGGGCCAGCAG 0.637 NA 4 113 0 0 0.009096 0 0 ZNF607 84775 broad.mit.edu 37 19 38190715 38190715 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr19:38190715C>T uc002ohc.1 - 5 913 c.317G>A c.(316-318)AGA>AAA p.R106K ZNF607_uc002ohb.1_Missense_Mutation_p.R105K NM_032689 NP_116078 Q96SK3 ZN607_HUMAN zinc finger protein 607 106 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 UCEC - Uterine corpus endometrioid carcinoma (49;0.0775) ATTATGAATTCTCTGATGGAG 0.348 NA 9 46 0 0 0.004482 0 0 RYR1 6261 broad.mit.edu 37 19 38934893 38934893 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr19:38934893C>G uc002oit.2 + 6 659 c.529C>G c.(529-531)CGC>GGC p.R177G RYR1_uc002oiu.2_Missense_Mutation_p.R177G NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 177 Cytoplasmic.|MIR 2. R -> C (in MHS1). muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CTCCTCCGAGCGCTACCTGGT 0.602 NA 5 36 0 0 0.000602 0 0 ZFP36 7538 broad.mit.edu 37 19 39898382 39898382 + Splice_Site SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr19:39898382G>T uc002olh.1 + 2 83 c.25_splice c.e2-1 p.S9_splice ZFP36_uc010egn.1_Intron NM_003407 NP_003398 P26651 TTP_HUMAN zinc finger protein 36, C3H type, homolog positive regulation of nuclear-transcribed mRNA poly(A) tail shortening cytosol|nucleus AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding pancreas(1) 1 all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) CATTTCCGCAGAGCCTCCTGT 0.672 NSCLC(67;1164 1324 12056 21056 30097) NA 121 229 9.11594e-60 1.28508e-59 0.01441 1 0 PLEKHG2 64857 broad.mit.edu 37 19 39914254 39914254 + Nonsense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr19:39914254C>T uc010xuz.1 + 18 2885 c.2560C>T c.(2560-2562)CAG>TAG p.Q854* PLEKHG2_uc010xuy.1_Nonsense_Mutation_p.Q795*|PLEKHG2_uc002olj.2_Intron|PLEKHG2_uc010xva.1_Nonsense_Mutation_p.Q632* NM_022835 NP_073746 Q9H7P9 PKHG2_HUMAN common-site lymphoma/leukemia guanine nucleotide 854 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 Rho guanyl-nucleotide exchange factor activity skin(2)|pancreas(1)|breast(1) 4 all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) GGCCCAACCCCAGCCATCCCC 0.692 NA 11 21 0 0 0.008291 0 0 FCGBP 8857 broad.mit.edu 37 19 40367841 40367841 + Silent SNP T T G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr19:40367841T>G uc002omp.3 - 29 13127 c.13119A>C c.(13117-13119)GCA>GCC p.A4373A NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 4373 TIL 10. extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) TCGTAAGGGGTGCAGGGGACG 0.627 NA 7 53 0 0 0.003954 0 0 CYP2B6 1555 broad.mit.edu 37 19 41509988 41509988 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr19:41509988G>A uc002opr.1 + 2 261 c.254G>A c.(253-255)CGG>CAG p.R85Q CYP2A7_uc002opo.2_Intron|CYP2B6_uc010xvu.1_Missense_Mutation_p.R45Q NM_000767 NP_000758 P20813 CP2B6_HUMAN cytochrome P450, family 2, subfamily B, 85 cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding ovary(1)|skin(1) 2 LUSC - Lung squamous cell carcinoma(20;0.00322) Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361) GAGGCCATACGGGAGGCCCTT 0.582 NA 20 99 0 0 0.008871 0 0 ARHGEF1 9138 broad.mit.edu 37 19 42407924 42407924 + Silent SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr19:42407924G>T uc002orx.2 + 20 2014 c.1905G>T c.(1903-1905)CTG>CTT p.L635L ARHGEF1_uc002ory.2_Silent_p.L602L|ARHGEF1_uc002orz.2_Silent_p.L473L|ARHGEF1_uc002osa.2_Silent_p.L650L|ARHGEF1_uc002osb.2_Silent_p.L617L|ARHGEF1_uc002osc.2_Silent_p.L389L|ARHGEF1_uc002osd.2_Silent_p.L294L|ARHGEF1_uc002ose.2_Silent_p.L79L NM_004706 NP_004697 Q92888 ARHG1_HUMAN Rho guanine nucleotide exchange factor 1 isoform 635 cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction cytosol|plasma membrane GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity ovary(3)|large_intestine(1) 4 Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425) Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644) ACCCTATGCTGAGCGAGTTCA 0.627 NA 21 36 1.90627e-21 2.58441e-21 0.012319 1 0 POU2F2 5452 broad.mit.edu 37 19 42621437 42621437 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr19:42621437C>A uc002osp.2 - 5 335 c.268G>T c.(268-270)GCC>TCC p.A90S POU2F2_uc002osn.2_Missense_Mutation_p.A90S|POU2F2_uc002oso.2_5'UTR|POU2F2_uc002osq.2_Missense_Mutation_p.A90S|POU2F2_uc002osr.1_Missense_Mutation_p.A90S NM_002698 NP_002689 P09086 PO2F2_HUMAN POU domain, class 2, transcription factor 2 90 humoral immune response|transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 Prostate(69;0.059) ATGAGTTGGGCCTGGGGCAGA 0.642 NA 30 105 7.01153e-11 8.67924e-11 0.007291 1 0 ZNF526 116115 broad.mit.edu 37 19 42730041 42730041 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr19:42730041G>C uc002osz.1 + 3 1642 c.1486G>C c.(1486-1488)GGT>CGT p.G496R NM_133444 NP_597701 Q8TF50 ZN526_HUMAN zinc finger protein 526 496 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0704) GACACACACGGGTGAGAGGCC 0.617 NA 19 86 0 0 0.006122 0 0 CIC 23152 broad.mit.edu 37 19 42791043 42791043 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr19:42791043G>T uc002otf.1 + 2 228 c.188G>T c.(187-189)AGC>ATC p.S63I NM_015125 NP_055940 Q96RK0 CIC_HUMAN capicua homolog 63 Pro-rich. 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) CAACCTGCCAGCCACCCAGTG 0.667 NA T DUX4 soft tissue sarcoma 15 41 2.31682e-05 2.54658e-05 0.003163 1 0 PSG11 5680 broad.mit.edu 37 19 43530537 43530537 + Translation_Start_Site SNP G G A rs1064913 TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr19:43530537G>A uc002ovm.1 - 1 95 c.-12C>T c.(-14--10)CACGC>CATGC PSG11_uc002ouw.2_Silent_p.H2H|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Silent_p.H2H|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Silent_p.H2H|PSG11_uc002ovn.1_Silent_p.H2H|PSG11_uc002ovo.1_Translation_Start_Site|PSG11_uc002ovp.1_Translation_Start_Site NM_002785 NP_002776 Q9UQ72 PSG11_HUMAN pregnancy specific beta-1-glycoprotein 11 female pregnancy extracellular region 0 Prostate(69;0.00682) TCTCTGCTGCGTGCATGTTCT 0.582 NA 39 20 0 0 0.004878 0 0 PSG2 5670 broad.mit.edu 37 19 43576091 43576092 + Missense_Mutation DNP GG GG TT TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr19:43576091_43576092GG>TT uc002ovr.2 - 4 817_818 c.724_725CC>AA c.(724-726)CCC>AAC p.P242N PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG2_uc002ovq.3_Missense_Mutation_p.P242N|PSG2_uc010eiq.1_Missense_Mutation_p.P242N|PSG2_uc002ovs.3_Missense_Mutation_p.P242N|PSG2_uc002ovt.3_Missense_Mutation_p.P242N NM_031246 NP_112536 P11465 PSG2_HUMAN pregnancy specific beta-1-glycoprotein 2 242 Ig-like C2-type 2. cell migration|female pregnancy extracellular region 0 Prostate(69;0.00682) GTGAATTCTGGGGAGGTCTGGA 0.495 NA 27 93 0 0 0.004672 0 0 PHLDB3 653583 broad.mit.edu 37 19 44006403 44006403 + Silent SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr19:44006403G>A uc002own.3 - 3 505 c.246C>T c.(244-246)GCC>GCT p.A82A PHLDB3_uc002owo.2_Silent_p.A82A NM_198850 NP_942147 Q6NSJ2 PHLB3_HUMAN pleckstrin homology-like domain, family B, 82 0 Prostate(69;0.0153) CGGGAGGTGTGGCCGCCATAG 0.652 NA 3 3 0 0 0.004672 0 0 IRGQ 126298 broad.mit.edu 37 19 44096300 44096300 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr19:44096300C>A uc002oww.2 - 2 1868 c.1750G>T c.(1750-1752)GGT>TGT p.G584C IRGQ_uc010eiv.2_Missense_Mutation_p.G584C NM_001007561 NP_001007562 Q8WZA9 IRGQ_HUMAN immunity-related GTPase family, Q 584 Ala-rich. protein binding ovary(1)|pancreas(1) 2 Prostate(69;0.0199) GCTGCACCACCCGCAGGCCAC 0.716 NA 11 51 3.07112e-06 3.46216e-06 0.010729 1 0 GEMIN7 79760 broad.mit.edu 37 19 45593530 45593530 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr19:45593530C>T uc002pap.1 + 3 309 c.158C>T c.(157-159)TCC>TTC p.S53F uc002pas.2_5'Flank|GEMIN7_uc002paq.1_Missense_Mutation_p.S53F|GEMIN7_uc002par.1_Missense_Mutation_p.S53F NM_001007270 NP_001007271 Q9H840 GEMI7_HUMAN gemin 7 53 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) TCCCTGGAATCCCAGGAGCAG 0.627 NA 13 71 0 0 0.013537 0 0 GPR4 2828 broad.mit.edu 37 19 46094344 46094344 + Nonsense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr19:46094344C>A uc002pcm.2 - 2 1726 c.781G>T c.(781-783)GAG>TAG p.E261* OPA3_uc010xxk.1_Intron NM_005282 NP_005273 P46093 GPR4_HUMAN G protein-coupled receptor 4 261 Extracellular (Potential). integral to plasma membrane G-protein coupled receptor activity ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223) ACGCGCTCCTCGAAGCCGCAG 0.637 Esophageal Squamous(117;181 1612 1673 14956 42937) NA 29 49 9.39395e-14 1.21352e-13 0.00632 1 0 IRF2BP1 26145 broad.mit.edu 37 19 46387917 46387917 + Silent SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr19:46387917C>T uc002pds.1 - 1 1460 c.1116G>A c.(1114-1116)CGG>CGA p.R372R NM_015649 NP_056464 Q8IU81 I2BP1_HUMAN interferon regulatory factor 2 binding protein 372 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231) GCGCCAGGTTCCGGGATGGGG 0.751 NA 5 25 0 0 0.000602 0 0 NOVA2 4858 broad.mit.edu 37 19 46443465 46443465 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr19:46443465C>A uc002pdv.2 - 4 1183 c.1135G>T c.(1135-1137)GGC>TGC p.G379C NM_002516 NP_002507 Q9UNW9 NOVA2_HUMAN neuro-oncological ventral antigen 2 379 Ala-rich.|Gly-rich. nucleus RNA binding 0 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179) accagcgggccgccccctccg 0.343 NA 5 9 3.59834e-05 3.94026e-05 0.001168 1 0 PRKD2 25865 broad.mit.edu 37 19 47193890 47193890 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr19:47193890C>A uc002pfh.2 - 14 2118 c.1776G>T c.(1774-1776)GAG>GAT p.E592D PRKD2_uc002pfd.2_5'Flank|PRKD2_uc010eks.2_5'UTR|PRKD2_uc010ekt.2_5'UTR|PRKD2_uc002pfe.2_Missense_Mutation_p.E112D|PRKD2_uc002pff.2_Missense_Mutation_p.E112D|PRKD2_uc002pfg.2_Missense_Mutation_p.E435D|PRKD2_uc002pfi.2_Missense_Mutation_p.E592D|PRKD2_uc002pfj.2_Missense_Mutation_p.E592D|PRKD2_uc010xye.1_Missense_Mutation_p.E592D|PRKD2_uc002pfk.2_Missense_Mutation_p.E435D NM_001079881 NP_001073350 Q9BZL6 KPCD2_HUMAN protein kinase D2 isoform A 592 Protein kinase. cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein kinase C activity ovary(2)|central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1) 7 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353) GGAGCTGGCTCTCCTGCTTGG 0.517 NA 16 92 2.35188e-11 2.94391e-11 0.006122 1 0 PLA2G4C 8605 broad.mit.edu 37 19 48578088 48578088 + Silent SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr19:48578088G>A uc002phx.2 - 12 1340 c.942C>T c.(940-942)CTC>CTT p.L314L PLA2G4C_uc002phw.2_Silent_p.L249L|PLA2G4C_uc010elr.2_Silent_p.L314L|PLA2G4C_uc010xzd.1_Silent_p.L324L NM_003706 NP_003697 Q9UP65 PA24C_HUMAN phospholipase A2, group IVC isoform 1 precursor 314 PLA2c. arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition cytosol|membrane calcium-independent phospholipase A2 activity|phospholipid binding ovary(1)|skin(1) 2 all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717) TCCAATTCTCGAGCATCTCAG 0.512 NA 35 160 0 0 0.003271 0 0 PLEKHA4 57664 broad.mit.edu 37 19 49340593 49340593 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr19:49340593C>T uc002pkx.2 - 20 2844 c.2293G>A c.(2293-2295)GAG>AAG p.E765K HSD17B14_uc002pkv.1_5'Flank|HSD17B14_uc010emk.1_5'Flank|PLEKHA4_uc002pkw.1_3'UTR|PLEKHA4_uc010eml.2_3'UTR NM_020904 NP_065955 Q9H4M7 PKHA4_HUMAN pleckstrin homology domain containing family A 765 cytoplasm|membrane 1-phosphatidylinositol binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364) CATGCCCCCTCGTCTTGTGGC 0.677 NA 14 65 0 0 0.003163 0 0 PLEKHA4 57664 broad.mit.edu 37 19 49357336 49357336 + Silent SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr19:49357336C>G uc002pkx.2 - 11 1655 c.1104G>C c.(1102-1104)CTG>CTC p.L368L PLEKHA4_uc002pkw.1_5'UTR|PLEKHA4_uc010eml.2_Silent_p.L343L NM_020904 NP_065955 Q9H4M7 PKHA4_HUMAN pleckstrin homology domain containing family A 368 cytoplasm|membrane 1-phosphatidylinositol binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364) ACAACTTGGTCAGCAGCGTCT 0.617 NA 4 53 0 0 0.009096 0 0 PTOV1 53635 broad.mit.edu 37 19 50360333 50360333 + Silent SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr19:50360333C>T uc002pqf.1 + 6 830 c.660C>T c.(658-660)TAC>TAT p.Y220Y PTOV1_uc002ppz.3_RNA|PTOV1_uc002pqb.3_Silent_p.Y188Y|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 1 220 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) TCATCCCCTACGACCAGAGCG 0.617 NA 56 244 0 0 0.01441 0 0 PNKP 11284 broad.mit.edu 37 19 50368512 50368512 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr19:50368512G>C uc002pqh.2 - 3 422 c.370C>G c.(370-372)CTG>GTG p.L124V PNKP_uc002pqg.2_5'UTR|PNKP_uc002pqi.2_Missense_Mutation_p.L85V|PNKP_uc002pqj.2_Missense_Mutation_p.L124V|PNKP_uc010enm.2_Missense_Mutation_p.L124V|PNKP_uc002pqk.2_Missense_Mutation_p.L124V NM_007254 NP_009185 Q96T60 PNKP_HUMAN polynucleotide kinase 3' phosphatase 124 DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation nucleolus ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding ovary(1)|kidney(1) 2 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;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134) TGGGACACCAGAGGGGTGCCA 0.572 NA Other_BER_factors 12 55 0 0 0.013537 0 0 ZNF473 25888 broad.mit.edu 37 19 50549823 50549823 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr19:50549823G>A uc002prn.2 + 5 2360 c.2123G>A c.(2122-2124)GGG>GAG p.G708E ZNF473_uc002prm.2_Missense_Mutation_p.G708E|ZNF473_uc010ybo.1_Missense_Mutation_p.G696E NM_001006656 NP_001006657 Q8WTR7 ZN473_HUMAN zinc finger protein 473 708 C2H2-type 15. histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription Cajal body DNA binding|protein binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 all_neural(266;0.0459)|Ovarian(192;0.0728) GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058) AACGAATGCGGGAAAACGTTC 0.483 NA 16 72 0 0 0.004007 0 0 MYBPC2 4606 broad.mit.edu 37 19 50945490 50945490 + Silent SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr19:50945490C>A uc002psf.2 + 9 873 c.822C>A c.(820-822)ATC>ATA p.I274I NM_004533 NP_004524 Q14324 MYPC2_HUMAN myosin binding protein C, fast type 274 Ig-like C2-type 2. cell adhesion|muscle filament sliding cytosol|myosin filament actin binding|structural constituent of muscle breast(1) 1 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144) GCAACAAGATCAAGTTGATGG 0.522 NA 5 7 4.096e-09 4.96443e-09 0.001168 1 0 CD33 945 broad.mit.edu 37 19 51738435 51738435 + Missense_Mutation SNP G G T rs1051198 TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr19:51738435G>T uc002pwa.2 + 5 809 c.769G>T c.(769-771)GTG>TTG p.V257L CD33_uc010eos.1_Missense_Mutation_p.V257L|CD33_uc010eot.1_Missense_Mutation_p.V130L|CD33_uc010eou.1_RNA NM_001772 NP_001763 P20138 CD33_HUMAN CD33 antigen isoform 1 precursor 257 Extracellular (Potential). cell adhesion|cell-cell signaling|negative regulation of cell proliferation external side of plasma membrane|integral to plasma membrane receptor activity|sugar binding 0 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468) Gemtuzumab ozogamicin(DB00056) CAGAGCAGGAGTGGTTCATGG 0.483 NA 17 40 3.51602e-12 4.45874e-12 0.008871 1 0 CD33 945 broad.mit.edu 37 19 51742776 51742776 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr19:51742776C>A uc002pwa.2 + 7 968 c.928C>A c.(928-930)CAC>AAC p.H310N CD33_uc010eos.1_3'UTR|CD33_uc010eot.1_Missense_Mutation_p.H183N|CD33_uc010eou.1_RNA NM_001772 NP_001763 P20138 CD33_HUMAN CD33 antigen isoform 1 precursor 310 Cytoplasmic (Potential). cell adhesion|cell-cell signaling|negative regulation of cell proliferation external side of plasma membrane|integral to plasma membrane receptor activity|sugar binding 0 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468) Gemtuzumab ozogamicin(DB00056) CCATAAGAAACACCAGAAGAA 0.512 NA 11 16 3.86212e-05 4.21639e-05 0.008291 1 0 SIGLEC12 89858 broad.mit.edu 37 19 51994903 51994903 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr19:51994903G>T uc002pwx.1 - 8 1836 c.1780C>A c.(1780-1782)CCC>ACC p.P594T SIGLEC12_uc002pww.1_Missense_Mutation_p.P476T|SIGLEC12_uc010eoy.1_Missense_Mutation_p.P321T NM_053003 NP_443729 Q96PQ1 SIG12_HUMAN sialic acid binding immunoglobulin-like 594 Cytoplasmic (Potential). cell adhesion integral to membrane sugar binding ovary(3)|skin(2) 5 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102) TCTCACTTGGGGATGTTGATC 0.522 NA 39 72 9.39024e-22 1.27546e-21 0.009718 1 0 SIGLEC14 100049587 broad.mit.edu 37 19 52147285 52147285 + Silent SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr19:52147285C>A uc002pxf.3 - 5 879 c.759G>T c.(757-759)CTG>CTT p.L253L NM_001098612 NP_001092082 Q08ET2 SIG14_HUMAN sialic acid binding Ig-like lectin 14 precursor 253 Extracellular (Potential).|Ig-like C2-type 2. cell adhesion integral to membrane|plasma membrane protein binding|sugar binding ovary(1) 1 all_neural(266;0.0299) GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195) TCAGGATCCGCAGGGCTGGGA 0.592 NA 7 12 0.00198382 0.00206488 0.001984 1 0 FPR2 2358 broad.mit.edu 37 19 52272003 52272003 + Missense_Mutation SNP T T A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr19:52272003T>A uc002pxr.2 + 2 137 c.92T>A c.(91-93)GTG>GAG p.V31E FPR2_uc002pxs.3_Missense_Mutation_p.V31E|FPR2_uc010epf.2_Missense_Mutation_p.V31E NM_001005738 NP_001005738 P25090 FPR2_HUMAN formyl peptide receptor-like 1 31 Helical; Name=1; (Potential). cell adhesion|cellular component movement|chemotaxis|inflammatory response integral to membrane|plasma membrane N-formyl peptide receptor activity lung(3)|ovary(1) 4 CTCCCATTGGTGGTGCTTGGG 0.537 NA 15 82 0 0 0.003163 0 0 FPR2 2358 broad.mit.edu 37 19 52272902 52272902 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr19:52272902C>A uc002pxr.2 + 2 1036 c.991C>A c.(991-993)CCA>ACA p.P331T FPR2_uc002pxs.3_Missense_Mutation_p.P331T|FPR2_uc010epf.2_Missense_Mutation_p.P331T NM_001005738 NP_001005738 P25090 FPR2_HUMAN formyl peptide receptor-like 1 331 Cytoplasmic (Potential). cell adhesion|cellular component movement|chemotaxis|inflammatory response integral to membrane|plasma membrane N-formyl peptide receptor activity lung(3)|ovary(1) 4 GGACTCAGCCCCAACTAATGA 0.537 NA 7 42 0.000157383 0.0001694 0.00308 1 0 FPR3 2359 broad.mit.edu 37 19 52327146 52327146 + Missense_Mutation SNP T T A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr19:52327146T>A uc002pxt.1 + 2 329 c.145T>A c.(145-147)TGG>AGG p.W49R NM_002030 NP_002021 P25089 FPR3_HUMAN formyl peptide receptor-like 2 49 Helical; Name=1; (Potential). cellular component movement|chemotaxis integral to membrane|plasma membrane N-formyl peptide receptor activity lung(4)|breast(1)|skin(1) 6 GCTTGTGATCTGGGTGGCTGG 0.552 NA 40 53 0 0 0.009718 0 0 ZNF649 65251 broad.mit.edu 37 19 52394608 52394608 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr19:52394608G>C uc002pxy.2 - 5 1049 c.781C>G c.(781-783)CCA>GCA p.P261A ZNF577_uc010ydf.1_5'Flank NM_023074 NP_075562 Q9BS31 ZN649_HUMAN zinc finger protein 649 261 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_neural(266;0.0602) GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185) CACCCGTATGGTTTCTCTCCT 0.502 NA 18 65 0 0 0.006122 0 0 PPP2R1A 5518 broad.mit.edu 37 19 52719320 52719320 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr19:52719320G>T uc002pyp.2 + 8 1145 c.986G>T c.(985-987)TGC>TTC p.C329F PPP2R1A_uc010ydk.1_Missense_Mutation_p.C274F|PPP2R1A_uc010epm.1_Missense_Mutation_p.C369F|PPP2R1A_uc002pyq.2_Missense_Mutation_p.C150F NM_014225 NP_055040 P30153 2AAA_HUMAN alpha isoform of regulatory subunit A, protein 329 PP2A subunit B binding.|HEAT 9. ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity endometrium(31)|ovary(28)|lung(2)|breast(2)|skin(1)|kidney(1)|pancreas(1) 66 GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015) ATCTTGCCCTGCATCAAGGTA 0.532 NA Mis clear cell ovarian carcinoma 10 34 0.000673444 0.000711157 0.008291 1 0 ZNF611 81856 broad.mit.edu 37 19 53209968 53209968 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr19:53209968C>G uc002pzz.2 - 7 657 c.340G>C c.(340-342)GAG>CAG p.E114Q ZNF611_uc010eqc.2_Missense_Mutation_p.E44Q|ZNF611_uc010ydo.1_Missense_Mutation_p.E44Q|ZNF611_uc010ydr.1_Missense_Mutation_p.E45Q|ZNF611_uc010ydp.1_Missense_Mutation_p.E114Q|ZNF611_uc010ydq.1_Missense_Mutation_p.E114Q|ZNF611_uc002qaa.3_Missense_Mutation_p.E44Q NM_030972 NP_112234 Q8N823 ZN611_HUMAN zinc finger protein 611 isoform a 114 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04) CACTGAAACTCAATGTCATGA 0.393 NA 5 176 0 0 0.001168 0 0 ZNF160 90338 broad.mit.edu 37 19 53572843 53572843 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr19:53572843C>A uc010eqk.2 - 7 1360 c.944G>T c.(943-945)TGT>TTT p.C315F ZNF160_uc002qaq.3_Missense_Mutation_p.C315F|ZNF160_uc002qar.3_Missense_Mutation_p.C315F NM_001102603 NP_001096073 Q9HCG1 ZN160_HUMAN zinc finger protein 160 315 C2H2-type 3. hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 GBM - Glioblastoma multiforme(134;0.02) ACACTCATGACATTTGTAAGG 0.413 NA 13 85 4.3838e-07 5.08003e-07 0.001855 1 0 PRKCG 5582 broad.mit.edu 37 19 54403931 54403931 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr19:54403931G>T uc002qcq.1 + 14 1785 c.1503G>T c.(1501-1503)ATG>ATT p.M501I PRKCG_uc010yeg.1_Missense_Mutation_p.M501I|PRKCG_uc010yeh.1_Missense_Mutation_p.M388I NM_002739 NP_002730 P05129 KPCG_HUMAN protein kinase C, gamma 501 Protein kinase. activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission cytosol ATP binding|protein kinase C activity|zinc ion binding lung(4)|ovary(2)|pancreas(2)|large_intestine(1) 9 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0521) ACTTTGGCATGTGTAAGGAGA 0.587 NA 124 255 1.03055e-72 1.45419e-72 0.01441 1 0 LENG8 114823 broad.mit.edu 37 19 54967885 54967885 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr19:54967885G>A uc002qfv.1 + 10 1549 c.1405G>A c.(1405-1407)GAG>AAG p.E469K LENG8_uc002qfw.2_Missense_Mutation_p.E506K Q96PV6 LENG8_HUMAN RecName: Full=Leukocyte receptor cluster member 8; 469 protein binding central_nervous_system(1)|pancreas(1) 2 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.139) CCCGGAGCGAGAGCTGAAGAA 0.667 NA 5 23 0 0 0.001168 0 0 C19orf51 352909 broad.mit.edu 37 19 55670723 55670723 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr19:55670723C>A uc002qji.1 - 12 1367 c.1333G>T c.(1333-1335)GCC>TCC p.A445S TNNI3_uc002qjg.3_5'Flank|TNNI3_uc010yft.1_5'Flank|C19orf51_uc002qjh.1_Missense_Mutation_p.A260S|C19orf51_uc002qjj.1_Missense_Mutation_p.A492S|C19orf51_uc002qjk.1_Missense_Mutation_p.A391S|C19orf51_uc002qjl.1_Missense_Mutation_p.A512S Q8N9W5 CS051_HUMAN RecName: Full=UPF0470 protein C19orf51; 445 0 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.044) GAAGGCCTGGCCCCGGTCTGT 0.617 NA 10 91 4.68919e-08 5.56267e-08 0.008291 1 0 ZNF628 89887 broad.mit.edu 37 19 55993190 55993190 + Silent SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr19:55993190C>T uc002qld.2 + 3 1183 c.618C>T c.(616-618)CCC>CCT p.P206P NM_033113 NP_149104 Q5EBL2 ZN628_HUMAN zinc finger protein 628 206 C2H2-type 7. nucleus DNA binding|zinc ion binding 0 Breast(117;0.155) BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193) GBM - Glioblastoma multiforme(193;0.0531) CGCTCTGCCCCAAGACCTTCA 0.522 NA 5 7 0 0 0.000602 0 0 NLRP4 147945 broad.mit.edu 37 19 56382250 56382250 + Silent SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr19:56382250G>A uc002qmd.3 + 7 2834 c.2412G>A c.(2410-2412)CTG>CTA p.L804L NLRP4_uc002qmf.2_Silent_p.L729L|NLRP4_uc010etf.2_Silent_p.L579L NM_134444 NP_604393 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 804 ATP binding ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1) 15 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) AAATGCTTCTGCGTAACAAGA 0.527 NA 16 54 0 0 0.004007 0 0 NLRP5 126206 broad.mit.edu 37 19 56544115 56544115 + Silent SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr19:56544115G>C uc002qmj.2 + 8 2415 c.2415G>C c.(2413-2415)CTG>CTC p.L805L NLRP5_uc002qmi.2_Silent_p.L786L NM_153447 NP_703148 P59047 NALP5_HUMAN NACHT, LRR and PYD containing protein 5 805 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) GTGCCAAGCTGAGGCATCCCA 0.607 NA 21 106 0 0 0.012319 0 0 ZIM3 114026 broad.mit.edu 37 19 57649865 57649865 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr19:57649865C>G uc002qnz.1 - 3 503 c.117G>C c.(115-117)GAG>GAC p.E39D NM_052882 NP_443114 Q96PE6 ZIM3_HUMAN zinc finger, imprinted 3 39 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1)|skin(1) 2 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) TGCTGTAATTCTCCAGCATCA 0.547 NA 17 72 0 0 0.004007 0 0 AURKC 6795 broad.mit.edu 37 19 57744834 57744834 + Nonsense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr19:57744834G>T uc002qoe.2 + 5 631 c.442G>T c.(442-444)GAG>TAG p.E148* AURKC_uc002qoc.2_Nonsense_Mutation_p.E129*|AURKC_uc002qod.2_Nonsense_Mutation_p.E114*|AURKC_uc010etv.2_Nonsense_Mutation_p.E145* NM_001015878 NP_001015878 Q9UQB9 AURKC_HUMAN aurora kinase C isoform 1 148 Protein kinase. E -> Q (in a lung squamous cell carcinoma sample; somatic mutation). cell cycle|cytokinesis condensed chromosome|cytoplasm|midbody|spindle midzone ATP binding|protein serine/threonine kinase activity p.E114Q(1) lung(4)|ovary(2) 6 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122) ACAGATAATAGAGGAGTTGGC 0.478 NA 17 76 1.15088e-07 1.34873e-07 0.004007 1 0 ZNF548 147694 broad.mit.edu 37 19 57910783 57910783 + Nonsense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr19:57910783C>G uc002qom.2 + 3 1378 c.1128C>G c.(1126-1128)TAC>TAG p.Y376* ZNF547_uc002qpm.3_Intron|ZNF548_uc002qon.2_Nonsense_Mutation_p.Y379* NM_152909 NP_690873 Q8NEK5 ZN548_HUMAN zinc finger protein 548 376 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TGTTTAGGTACAACTCCAGCC 0.403 NA 4 19 0 0 0.009096 0 0 ZNF416 55659 broad.mit.edu 37 19 58087249 58087249 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr19:58087249C>A uc002qpf.2 - 3 296 c.125G>T c.(124-126)TGG>TTG p.W42L ZNF547_uc002qpm.3_Intron NM_017879 NP_060349 Q9BWM5 ZN416_HUMAN zinc finger protein 416 42 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259) AAGGAGCCCCCATTCTTCCTG 0.537 NA 42 78 2.19962e-31 3.07397e-31 0.00874 1 0 ZSCAN18 65982 broad.mit.edu 37 19 58598331 58598331 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr19:58598331C>A uc002qri.2 - 5 996 c.687G>T c.(685-687)TGG>TGT p.W229C ZSCAN18_uc002qrj.3_Missense_Mutation_p.W229C|ZSCAN18_uc010yhs.1_Missense_Mutation_p.W94C|ZSCAN18_uc002qrh.2_Missense_Mutation_p.W229C|ZSCAN18_uc010yht.1_Missense_Mutation_p.W285C|ZSCAN18_uc002qrk.1_3'UTR|ZSCAN18_uc002qrl.2_3'UTR NM_001145543 NP_001139015 Q8TBC5 ZSC18_HUMAN zinc finger and SCAN domain containing 18 229 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) CCAGGTGGCCCCACTCCCCCA 0.637 NA 17 57 2.35188e-11 2.94391e-11 0.006122 1 0 TMEM18 129787 broad.mit.edu 37 2 669766 669766 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:669766C>G uc002qwl.2 - 4 412 c.318G>C c.(316-318)ATG>ATC p.M106I TMEM18_uc002qwk.2_RNA NM_152834 NP_690047 Q96B42 TMM18_HUMAN transmembrane protein 18 106 Helical; (Potential). cell migration integral to membrane|nuclear membrane ovary(1) 1 all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253) all cancers(51;1.95e-21)|Epithelial(75;9.47e-21)|OV - Ovarian serous cystadenocarcinoma(76;8.15e-18)|GBM - Glioblastoma multiforme(21;0.0285) CCACAATGATCATGGCATTCA 0.358 NA 14 26 0 0 0.00245 0 0 TPO 7173 broad.mit.edu 37 2 1418261 1418261 + Silent SNP A A G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:1418261A>G uc002qww.2 + 2 172 c.81A>G c.(79-81)AAA>AAG p.K27K TPO_uc010ewj.2_Intron|TPO_uc010yin.1_Silent_p.K27K|TPO_uc002qwu.2_Silent_p.K27K|TPO_uc002qwr.2_Silent_p.K27K|TPO_uc002qwx.2_Silent_p.K27K|TPO_uc010yio.1_Silent_p.K27K|TPO_uc010yip.1_Silent_p.K27K NM_000547 NP_000538 P07202 PERT_HUMAN thyroid peroxidase isoform a 27 Extracellular (Potential). cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1) 20 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) CGAGAGGGAAAGAACTCCTTT 0.458 NA 16 16 0 0 0.008871 0 0 PXDN 7837 broad.mit.edu 37 2 1639197 1639197 + Missense_Mutation SNP T T A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:1639197T>A uc002qxa.2 - 22 4367 c.4303A>T c.(4303-4305)ACC>TCC p.T1435S NM_012293 NP_036425 Q92626 PXDN_HUMAN peroxidasin precursor 1435 VWFC. extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity pancreas(6)|ovary(2) 8 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) TCACAAATGGTGCATGCATCT 0.512 NA 5 4 0 0 0.001984 0 0 COLEC11 78989 broad.mit.edu 37 2 3685153 3685153 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:3685153G>T uc002qya.2 + 4 381 c.233G>T c.(232-234)AGT>ATT p.S78I COLEC11_uc002qxz.2_Missense_Mutation_p.S75I|COLEC11_uc002qyb.2_Missense_Mutation_p.S54I|COLEC11_uc002qyc.2_Intron|COLEC11_uc010ewo.2_Intron|COLEC11_uc010ewp.2_Missense_Mutation_p.S52I|COLEC11_uc010ewq.2_Missense_Mutation_p.S28I|COLEC11_uc010ewr.2_Intron|COLEC11_uc010ews.2_Intron NM_024027 NP_076932 Q9BWP8 COL11_HUMAN collectin sub-family member 11 isoform a 78 Collagen-like. collagen mannose binding 0 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) OV - Ovarian serous cystadenocarcinoma(76;0.127) CAGAAAGGCAGTGTGGGTCGT 0.512 NA 20 27 1.96292e-10 2.40927e-10 0.010504 1 0 ALLC 55821 broad.mit.edu 37 2 3726108 3726108 + Nonsense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:3726108G>A uc010ewt.2 + 4 296 c.135G>A c.(133-135)TGG>TGA p.W45* NM_018436 NP_060906 Q8N6M5 ALLC_HUMAN allantoicase isoform a 64 allantoicase activity central_nervous_system(1) 1 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088) all_cancers(51;0.24) OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206) TTGGGAAATGGATGGATGGCT 0.463 NA HNSCC(21;0.051) 15 9 0 0 0.003163 0 0 CMPK2 129607 broad.mit.edu 37 2 7001425 7001425 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:7001425G>C uc002qyo.2 - 3 991 c.882C>G c.(880-882)ATC>ATG p.I294M CMPK2_uc010yis.1_Missense_Mutation_p.I294M|CMPK2_uc010ewv.2_Missense_Mutation_p.I294M NM_207315 NP_997198 Q5EBM0 CMPK2_HUMAN UMP-CMP kinase 2 precursor 294 dTDP biosynthetic process mitochondrion ATP binding|cytidylate kinase activity|thymidylate kinase activity|UMP kinase activity 0 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) CATCATCAAAGATCTTCCTCC 0.448 NA 7 32 0 0 0.001984 0 0 KIDINS220 57498 broad.mit.edu 37 2 8888088 8888088 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:8888088C>G uc002qzc.2 - 25 3639 c.3457G>C c.(3457-3459)GGC>CGC p.G1153R KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Intron|KIDINS220_uc010yiw.1_Intron|KIDINS220_uc002qzb.2_Missense_Mutation_p.G26R|KIDINS220_uc002qze.2_3'UTR NM_020738 NP_065789 Q9ULH0 KDIS_HUMAN kinase D-interacting substrate of 220 kDa 1153 Cytoplasmic (Potential). activation of MAPKK activity|nerve growth factor receptor signaling pathway cytosol|integral to membrane ovary(3)|central_nervous_system(1) 4 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) TGGGAGCCGCCAGGGTAATAC 0.403 NA 7 9 0 0 0.004482 0 0 ADAM17 6868 broad.mit.edu 37 2 9633917 9633917 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:9633917C>T uc002qzu.2 - 16 2135 c.1952G>A c.(1951-1953)CGA>CAA p.R651Q IAH1_uc010yiz.1_Intron|ADAM17_uc010ewy.2_Missense_Mutation_p.R651Q|ADAM17_uc010ewz.2_Intron NM_003183 NP_003174 P78536 ADA17_HUMAN a disintegrin and metalloprotease domain 17 651 Crambin-like.|Extracellular (Potential). B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding lung(1)|kidney(1) 2 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.225) ATCCCAAAATCGTTCAATTAC 0.378 NA 3 21 0 0 0.004672 0 0 KCNS3 3790 broad.mit.edu 37 2 18112823 18112823 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:18112823C>A uc002rcv.2 + 3 999 c.548C>A c.(547-549)TCC>TAC p.S183Y KCNS3_uc002rcw.2_Missense_Mutation_p.S183Y NM_002252 NP_002243 Q9BQ31 KCNS3_HUMAN potassium voltage-gated channel 183 Cytoplasmic (Potential). energy reserve metabolic process|regulation of insulin secretion Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium channel regulator activity ovary(4) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) TACTGCCTGTCCGCTAAGCTT 0.507 NA 14 30 9.31168e-06 1.04004e-05 0.001855 1 0 SDC1 6382 broad.mit.edu 37 2 20404000 20404000 + Silent SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:20404000G>A uc002rdo.1 - 3 500 c.201C>T c.(199-201)GAC>GAT p.D67D SDC1_uc002rdp.1_Silent_p.D67D|SDC1_uc010exv.2_Silent_p.D67D|SDC1_uc010exw.1_RNA NM_002997 NP_002988 P18827 SDC1_HUMAN syndecan 1 precursor 67 Extracellular (Potential). lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development cytoplasm|extracellular region|focal adhesion|integral to plasma membrane cytoskeletal protein binding|protein C-terminus binding ovary(4)|skin(1) 5 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) OV - Ovarian serous cystadenocarcinoma(76;0.221) GGAGCTGCGTGTCCTTCCAAG 0.637 NA 97 69 0 0 0.01441 0 0 APOB 338 broad.mit.edu 37 2 21234952 21234952 + Silent SNP T T C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:21234952T>C uc002red.2 - 26 4916 c.4788A>G c.(4786-4788)GCA>GCG p.A1596A NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 1596 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) AACGCAGCAGTGCATTTTGCT 0.408 NA 21 22 0 0 0.008871 0 0 APOB 338 broad.mit.edu 37 2 21235014 21235014 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:21235014C>A uc002red.2 - 26 4854 c.4726G>T c.(4726-4728)GGG>TGG p.G1576W NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 1576 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TTATACTTCCCATTGGTGTCA 0.413 NA 23 34 3.85864e-22 5.26574e-22 0.00278 1 0 NCOA1 8648 broad.mit.edu 37 2 24920559 24920559 + Missense_Mutation SNP A A G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:24920559A>G uc002rfk.2 + 9 1099 c.841A>G c.(841-843)AGA>GGA p.R281G NCOA1_uc010eye.2_Missense_Mutation_p.R281G|NCOA1_uc002rfi.2_Missense_Mutation_p.R130G|NCOA1_uc002rfj.2_Missense_Mutation_p.R281G|NCOA1_uc002rfl.2_Missense_Mutation_p.R281G NM_003743 NP_003734 Q15788 NCOA1_HUMAN nuclear receptor coactivator 1 isoform 1 281 PAX3/NCOA1(8) soft_tissue(8)|ovary(1)|lung(1)|skin(1) 11 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TAGTTCCCTGAGAGCTGCTGG 0.368 NA T PAX3 alveolar rhadomyosarcoma 8 15 0 0 0.00308 0 0 GPR113 165082 broad.mit.edu 37 2 26533740 26533740 + Silent SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:26533740C>T uc002rhe.3 - 11 2856 c.2856G>A c.(2854-2856)CTG>CTA p.L952L GPR113_uc010yky.1_Silent_p.L883L|GPR113_uc002rhb.1_Silent_p.L555L|GPR113_uc010eyk.1_Silent_p.L753L|GPR113_uc002rhc.1_Silent_p.L555L|GPR113_uc002rhd.1_RNA NM_001145168 NP_001138640 Q8IZF5 GP113_HUMAN G-protein coupled receptor 113 isoform 1 952 Cytoplasmic (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(4) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCGAAGGTCTCAGCAACTTCA 0.582 NA 11 17 0 0 0.008291 0 0 ZNF513 130557 broad.mit.edu 37 2 27603003 27603003 + Missense_Mutation SNP G G C rs144091327 byFrequency TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:27603003G>C uc002rkk.2 - 2 368 c.168C>G c.(166-168)GAC>GAG p.D56E ZNF513_uc002rkj.2_5'UTR NM_144631 NP_653232 Q8N8E2 ZN513_HUMAN zinc finger protein 513 56 Gly-rich. regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception nucleus transcription regulatory region DNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CACTGTTGCCGTCGCCTTCCT 0.582 NA 30 159 0 0 0.010818 0 0 IFT172 26160 broad.mit.edu 37 2 27706212 27706212 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:27706212C>T uc002rku.2 - 7 565 c.514G>A c.(514-516)GCA>ACA p.A172T IFT172_uc002rkw.2_Missense_Mutation_p.A172T|IFT172_uc010yls.1_Missense_Mutation_p.A151T|IFT172_uc010ezc.2_Missense_Mutation_p.A172T|IFT172_uc002rkv.2_Missense_Mutation_p.A172T NM_015662 NP_056477 Q9UG01 IF172_HUMAN selective LIM binding factor homolog 172 WD 4. cilium assembly cilium binding large_intestine(1)|ovary(1) 2 Acute lymphoblastic leukemia(172;0.155) GTACCATCTGCATGACCAGAG 0.383 NA 7 64 0 0 0.004482 0 0 C2orf16 84226 broad.mit.edu 37 2 27800472 27800472 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:27800472G>C uc002rkz.3 + 1 1084 c.1033G>C c.(1033-1035)GAT>CAT p.D345H NM_032266 NP_115642 Q68DN1 CB016_HUMAN hypothetical protein LOC84226 345 large_intestine(1) 1 Acute lymphoblastic leukemia(172;0.155) TCACGTCCCAGATTCTGCTTC 0.443 NA 7 33 0 0 0.00308 0 0 C2orf16 84226 broad.mit.edu 37 2 27800886 27800886 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:27800886G>C uc002rkz.3 + 1 1498 c.1447G>C c.(1447-1449)GAT>CAT p.D483H NM_032266 NP_115642 Q68DN1 CB016_HUMAN hypothetical protein LOC84226 483 large_intestine(1) 1 Acute lymphoblastic leukemia(172;0.155) AGAGCCACTAGATCAAGTCAC 0.423 NA 7 45 0 0 0.001984 0 0 XDH 7498 broad.mit.edu 37 2 31595220 31595220 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:31595220G>A uc002rnv.1 - 17 1809 c.1730C>T c.(1729-1731)CCC>CTC p.P577L NM_000379 NP_000370 P47989 XDH_HUMAN xanthine dehydrogenase 577 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity skin(4)|breast(2)|ovary(1)|central_nervous_system(1) 8 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) GTGGGGCAGGGGCCGGCCCAC 0.622 Colon(66;682 1445 30109 40147) NA 41 193 0 0 0.009718 0 0 LTBP1 4052 broad.mit.edu 37 2 33172863 33172863 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:33172863C>T uc002ros.2 + 1 472 c.472C>T c.(472-474)CAC>TAC p.H158Y NM_206943 NP_996826 Q14766 LTBP1_HUMAN latent transforming growth factor beta binding 158 negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1) 8 all_hematologic(175;0.115) Medulloblastoma(90;0.215) GCTGCAGGTTCACCAGAAGCA 0.512 NA 8 9 0 0 0.00308 0 0 C2orf56 55471 broad.mit.edu 37 2 37464981 37464981 + Missense_Mutation SNP A A G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:37464981A>G uc002rqa.3 + 4 454 c.379A>G c.(379-381)AGG>GGG p.R127G C2orf56_uc010ynj.1_Intron|C2orf56_uc002rqc.3_Missense_Mutation_p.R100G|C2orf56_uc010ynk.1_Missense_Mutation_p.R127G|C2orf56_uc010ynl.1_Missense_Mutation_p.R100G NM_144736 NP_653337 Q7L592 MIDA_HUMAN hypothetical protein LOC55471 isoform 1 127 mitochondrial respiratory chain complex I assembly mitochondrion enzyme binding|methyltransferase activity central_nervous_system(1) 1 all_hematologic(82;0.21) GGGCCCAGGTAGGGGAACCCT 0.423 NA 5 21 0 0 0.000602 0 0 HNRPLL 92906 broad.mit.edu 37 2 38796436 38796436 + Nonsense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:38796436C>A uc002rqw.2 - 10 1665 c.1255G>T c.(1255-1257)GAG>TAG p.E419* HNRPLL_uc002rqv.2_Nonsense_Mutation_p.E114*|HNRPLL_uc002rqx.2_Nonsense_Mutation_p.E414* NM_138394 NP_612403 Q8WVV9 HNRLL_HUMAN heterogeneous nuclear ribonucleoprotein L-like 419 mRNA processing|positive regulation of RNA splicing nucleus|ribonucleoprotein complex mRNA binding|nucleotide binding|protein binding skin(1) 1 all_hematologic(82;0.248) TCCTCCAGCTCAAATATTTGA 0.368 NA 9 18 2.74318e-10 3.3641e-10 0.006214 1 0 DHX57 90957 broad.mit.edu 37 2 39088536 39088536 + Missense_Mutation SNP T T G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:39088536T>G uc002rrf.2 - 5 1115 c.1016A>C c.(1015-1017)GAT>GCT p.D339A DHX57_uc002rre.2_5'UTR|DHX57_uc002rrg.2_Missense_Mutation_p.D339A NM_198963 NP_945314 Q6P158 DHX57_HUMAN DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 339 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding ovary(1)|lung(1)|skin(1) 3 all_hematologic(82;0.248) ATGAGAATCATCTACACTTCT 0.333 Melanoma(191;1090 2095 4375 23729 47341) NA 11 14 0 0 0.008291 0 0 SOS1 6654 broad.mit.edu 37 2 39278356 39278356 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:39278356C>T uc002rrk.3 - 6 834 c.793G>A c.(793-795)GAT>AAT p.D265N SOS1_uc010ynr.1_RNA|SOS1_uc002rrl.2_5'UTR NM_005633 NP_005624 Q07889 SOS1_HUMAN son of sevenless homolog 1 265 DH. apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity ovary(4)|breast(3)|lung(2)|central_nervous_system(1) 10 all_hematologic(82;0.21) TCTACTGTATCTTCTATATGG 0.373 NA Noonan_syndrome 6 33 0 0 0.001168 0 0 EML4 27436 broad.mit.edu 37 2 42511835 42511835 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:42511835G>C uc002rsi.2 + 9 1265 c.1003G>C c.(1003-1005)GAT>CAT p.D335H EML4_uc010fap.2_Missense_Mutation_p.D277H|EML4_uc002rsj.2_5'Flank NM_019063 NP_061936 Q9HC35 EMAL4_HUMAN echinoderm microtubule associated protein like 4 335 WD 1. microtubule-based process|mitosis cytoplasm|microtubule protein binding EML4/ALK(246) lung(246)|ovary(2)|central_nervous_system(1)|skin(1) 250 CGTGGATAAAGATGGAAGGGT 0.368 NA T ALK NSCLC 7 27 0 0 0.00308 0 0 SLC3A1 6519 broad.mit.edu 37 2 44503035 44503035 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:44503035G>T uc002ruc.3 + 1 439 c.361G>T c.(361-363)GGG>TGG p.G121W SLC3A1_uc002rty.2_Missense_Mutation_p.G121W|SLC3A1_uc002rtz.2_Missense_Mutation_p.G121W|SLC3A1_uc002rua.2_Missense_Mutation_p.G121W|SLC3A1_uc002rub.2_Missense_Mutation_p.G121W NM_000341 NP_000332 Q07837 SLC31_HUMAN solute carrier family 3, member 1 121 Extracellular (Potential). carbohydrate metabolic process|cellular amino acid metabolic process|ion transport integral to plasma membrane|membrane fraction basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity 0 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) L-Cystine(DB00138) GTGGCAGGAGGGGCCCATGTA 0.542 NA 48 60 4.10826e-27 5.67573e-27 0.01441 1 0 BCL11A 53335 broad.mit.edu 37 2 60688050 60688050 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:60688050G>C uc002sae.1 - 4 2225 c.1997C>G c.(1996-1998)TCC>TGC p.S666C BCL11A_uc002sab.2_Missense_Mutation_p.S666C|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Missense_Mutation_p.S335C|BCL11A_uc010ypj.1_Missense_Mutation_p.S632C|BCL11A_uc002sad.1_Missense_Mutation_p.S514C|BCL11A_uc002saf.1_Missense_Mutation_p.S632C NM_022893 NP_075044 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A isoform 1 666 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|cytoplasm|nucleus|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding central_nervous_system(6)|breast(3)|ovary(2)|skin(2) 13 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) GAGCTGCCTGGAGGCCGCGTA 0.612 NA T IGH@ B-CLL 19 34 0 0 0.006122 0 0 CLEC4F 165530 broad.mit.edu 37 2 71039605 71039605 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:71039605C>A uc002shf.2 - 5 1590 c.1513G>T c.(1513-1515)GCA>TCA p.A505S CLEC4F_uc010yqv.1_Missense_Mutation_p.A505S NM_173535 NP_775806 Q8N1N0 CLC4F_HUMAN C-type lectin, superfamily member 13 505 Extracellular (Potential).|C-type lectin. endocytosis integral to membrane receptor activity|sugar binding ovary(5) 5 GCCACAGATGCCAGATGGGCT 0.512 Colon(107;10 2157 6841 26035) NA 45 40 1.56793e-16 2.07721e-16 0.01441 1 0 INO80B 83444 broad.mit.edu 37 2 74682559 74682559 + Missense_Mutation SNP G G T rs115610738 by1000genomes TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:74682559G>T uc002slg.2 + 2 130 c.85G>T c.(85-87)GGT>TGT p.G29C INO80B_uc002slf.1_Missense_Mutation_p.G16C|INO80B_uc010yrr.1_Missense_Mutation_p.G16C|WBP1_uc002slh.1_RNA|INO80B_uc002sli.1_RNA|INO80B_uc010yrs.1_Missense_Mutation_p.G47C NM_031288 NP_112578 Q9C086 IN80B_HUMAN high mobility group AT-hook 1-like 4 29 DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ino80 complex|nucleolus metal ion binding|protein binding pancreas(1) 1 GAGCCTGGCGGGTGCCCATGG 0.478 NA 16 69 2.31682e-05 2.54658e-05 0.003163 1 0 HK2 3099 broad.mit.edu 37 2 75107651 75107651 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:75107651G>A uc002snd.2 + 10 3451 c.1525G>A c.(1525-1527)GTC>ATC p.V509I NM_000189 NP_000180 P52789 HXK2_HUMAN hexokinase 2 509 Catalytic. apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane ATP binding|glucokinase activity ovary(1)|lung(1) 2 CAGTGCCCCCGTCAAGATGCT 0.597 NA 16 37 0 0 0.004007 0 0 THNSL2 55258 broad.mit.edu 37 2 88482504 88482504 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:88482504C>T uc002ssz.3 + 7 1142 c.989C>T c.(988-990)TCT>TTT p.S330F THNSL2_uc002ssv.2_RNA|THNSL2_uc002ssw.3_Missense_Mutation_p.S330F|THNSL2_uc002ssx.3_Intron|THNSL2_uc002sta.3_Missense_Mutation_p.S172F|THNSL2_uc002ssy.3_Missense_Mutation_p.S330F|THNSL2_uc010fhe.2_Missense_Mutation_p.S172F NM_018271 NP_060741 Q86YJ6 THNS2_HUMAN threonine synthase-like 2 330 threonine biosynthetic process threonine synthase activity ovary(1) 1 TGGCTGCTCTCTGGCTCTGAC 0.547 NA 7 24 0 0 0.00308 0 0 RPIA 22934 broad.mit.edu 37 2 89035252 89035252 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:89035252C>G uc002ste.2 + 6 635 c.594C>G c.(592-594)TTC>TTG p.F198L NM_144563 NP_653164 P49247 RPIA_HUMAN ribose 5-phosphate isomerase A 198 pentose-phosphate shunt, non-oxidative branch cytosol ribose-5-phosphate isomerase activity ovary(1) 1 Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287) TCGCTGATTTCAGGTACAGTT 0.517 NA 60 114 0 0 0.01441 0 0 MRPS5 64969 broad.mit.edu 37 2 95756262 95756262 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:95756262C>A uc002sub.2 - 11 1155 c.937G>T c.(937-939)GGC>TGC p.G313C MRPS5_uc002suc.2_RNA NM_031902 NP_114108 P82675 RT05_HUMAN mitochondrial ribosomal protein S5 313 translation mitochondrion|ribosome protein binding|RNA binding|structural constituent of ribosome ovary(2)|central_nervous_system(1) 3 CAGCGGAGGCCGTAACCTAGA 0.522 NA 29 91 1.50538e-07 1.76275e-07 0.00632 1 0 FER1L5 90342 broad.mit.edu 37 2 97368993 97368993 + Silent SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:97368993C>T uc010fia.2 + 49 5709 c.5709C>T c.(5707-5709)ATC>ATT p.I1903I FER1L5_uc002sws.3_Silent_p.I612I|FER1L5_uc002swt.3_Silent_p.I612I|FER1L5_uc010yus.1_Silent_p.I611I NM_001113382 NP_001106853 A0AVI2 FR1L5_HUMAN fer-1-like 5 isoform 2 1903 integral to membrane ovary(1) 1 CCTATTTCATCCAATACAAGC 0.572 NA 52 127 0 0 0.01441 0 0 EIF5B 9669 broad.mit.edu 37 2 99985017 99985017 + Missense_Mutation SNP G G C rs3205291 TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:99985017G>C uc002tab.2 + 7 1534 c.1350G>C c.(1348-1350)AAG>AAC p.K450N NM_015904 NP_056988 O60841 IF2P_HUMAN eukaryotic translation initiation factor 5B 450 regulation of translational initiation cytosol GTP binding|GTPase activity|protein binding|translation initiation factor activity ovary(2)|pancreas(1) 3 AAGATAAAAAGAGGAAAAAAA 0.353 Colon(162;2388 2567 2705 3444) NA 7 31 0 0 0.00308 0 0 NCK2 8440 broad.mit.edu 37 2 106498084 106498084 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:106498084C>G uc002tdg.2 + 4 969 c.527C>G c.(526-528)TCC>TGC p.S176C NCK2_uc002tdh.2_Intron|NCK2_uc002tdi.2_Missense_Mutation_p.S176C NM_003581 NP_003572 O43639 NCK2_HUMAN NCK adaptor protein 2 isoform A 176 axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation cytosol|endoplasmic reticulum cytoskeletal adaptor activity|receptor signaling complex scaffold activity ovary(1)|lung(1) 2 GCTGCGGAGTCCCCAAGCTTC 0.657 NA 8 103 0 0 0.00308 0 0 SLC5A7 60482 broad.mit.edu 37 2 108609503 108609503 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:108609503G>A uc002tdv.2 + 4 644 c.368G>A c.(367-369)GGA>GAA p.G123E SLC5A7_uc010ywm.1_5'UTR|SLC5A7_uc010fjj.2_Missense_Mutation_p.G123E|SLC5A7_uc010ywn.1_Missense_Mutation_p.G10E NM_021815 NP_068587 Q9GZV3 SC5A7_HUMAN solute carrier family 5 (choline transporter), 123 Extracellular (Potential). acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity ovary(2)|central_nervous_system(1)|skin(1) 4 Choline(DB00122) CAAATCTATGGAAAACGCATG 0.448 NA 14 57 0 0 0.00245 0 0 SH3RF3 344558 broad.mit.edu 37 2 110048969 110048969 + Silent SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:110048969C>G uc010ywt.1 + 6 1416 c.1416C>G c.(1414-1416)CTC>CTG p.L472L NM_001099289 NP_001092759 Q8TEJ3 SH3R3_HUMAN SH3 domain containing ring finger 3 472 SH3 3. zinc ion binding ovary(1) 1 ACCTGGCGCTCTACGCCTACA 0.632 NA 12 15 0 0 0.001855 0 0 BUB1 699 broad.mit.edu 37 2 111395637 111395637 + Silent SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:111395637C>T uc002tgc.2 - 25 3274 c.3162G>A c.(3160-3162)CTG>CTA p.L1054L BUB1_uc010yxh.1_Silent_p.L1034L|BUB1_uc010fkb.2_Silent_p.L997L NM_004336 NP_004327 O43683 BUB1_HUMAN budding uninhibited by benzimidazoles 1 1054 Protein kinase. apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion condensed chromosome kinetochore|cytosol ATP binding|protein binding|protein serine/threonine kinase activity lung(2)|breast(2)|stomach(1)|ovary(1)|kidney(1) 7 Ovarian(717;0.0822) BRCA - Breast invasive adenocarcinoma(221;0.0556) ATACTTTCTTCAGCTTTTGCC 0.338 NA 10 22 0 0 0.008291 0 0 BUB1 699 broad.mit.edu 37 2 111425235 111425235 + Nonsense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:111425235G>C uc002tgc.2 - 8 780 c.668C>G c.(667-669)TCA>TGA p.S223* BUB1_uc010yxh.1_Nonsense_Mutation_p.S203*|BUB1_uc010fkb.2_Nonsense_Mutation_p.S223*|BUB1_uc002tgd.2_Nonsense_Mutation_p.S223* NM_004336 NP_004327 O43683 BUB1_HUMAN budding uninhibited by benzimidazoles 1 223 apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion condensed chromosome kinetochore|cytosol ATP binding|protein binding|protein serine/threonine kinase activity p.V221_S227>S(1) lung(2)|breast(2)|stomach(1)|ovary(1)|kidney(1) 7 Ovarian(717;0.0822) BRCA - Breast invasive adenocarcinoma(221;0.0556) TGCCAAAGATGAGTGCACAGA 0.378 NA 8 47 0 0 0.00308 0 0 TTL 150465 broad.mit.edu 37 2 113286318 113286318 + Silent SNP A A T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:113286318A>T uc002thu.2 + 7 1259 c.1080A>T c.(1078-1080)CCA>CCT p.P360P TTL_uc010fkm.1_Intron NM_153712 NP_714923 Q8NG68 TTL_HUMAN tubulin tyrosine ligase 360 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) GTGTCTTCCCACCCCCAGATG 0.512 NA T ETV6 ALL 32 62 0 0 0.013726 0 0 IL1A 3552 broad.mit.edu 37 2 113539390 113539390 + Missense_Mutation SNP T T C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:113539390T>C uc002tig.2 - 4 1070 c.110A>G c.(109-111)CAT>CGT p.H37R NM_000575 NP_000566 P01583 IL1A_HUMAN interleukin 1, alpha proprotein 37 anti-apoptosis|apoptosis|cell proliferation|cellular response to heat|cytokine-mediated signaling pathway|fever generation|immune response|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation vascular endothelial growth factor production|response to copper ion cytosol|extracellular space copper ion binding|cytokine activity|interleukin-1 receptor binding lung(1) 1 ATAGCTTACATGATAGAAGGA 0.443 NA 23 27 0 0 0.00333 0 0 PSD4 23550 broad.mit.edu 37 2 113955199 113955199 + Silent SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:113955199C>T uc002tjc.2 + 13 2628 c.2445C>T c.(2443-2445)CTC>CTT p.L815L PSD4_uc002tjd.2_Silent_p.L436L|PSD4_uc002tje.2_Silent_p.L786L|PSD4_uc002tjf.2_Silent_p.L436L|PSD4_uc002tjg.2_5'UTR|PSD4_uc010yxs.1_Silent_p.L46L|PSD4_uc002tjh.2_5'Flank NM_012455 NP_036587 Q8NDX1 PSD4_HUMAN pleckstrin and Sec7 domain containing 4 815 PH. regulation of ARF protein signal transduction cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity ovary(2) 2 GGATGGTTCTCTACTTCCTGA 0.552 NA 23 49 0 0 0.014323 0 0 DDX11L2 84771 broad.mit.edu 37 2 114357557 114357557 + Nonstop_Mutation SNP A A G rs115341812 by1000genomes TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:114357557A>G uc010yxx.1 - 3 709 c.382T>C c.(382-384)TAG>CAG p.*128Q SubName: Full=DEAD/H box polypeptide 11 like 2; 0 GCCTACTTCTAGTGAAACTGG 0.567 NA 3 25 0 0 0.004672 0 0 DDX18 8886 broad.mit.edu 37 2 118579310 118579310 + Silent SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:118579310G>A uc002tlh.1 + 5 834 c.735G>A c.(733-735)AGG>AGA p.R245R NM_006773 NP_006764 Q9NVP1 DDX18_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 245 Helicase ATP-binding. ATP binding|ATP-dependent RNA helicase activity|RNA binding breast(2)|ovary(1)|lung(1) 4 TTAAGTTAAGGTTCATGCCCA 0.423 NA 9 35 0 0 0.004482 0 0 GLI2 2736 broad.mit.edu 37 2 121747078 121747078 + Silent SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:121747078G>T uc010flp.2 + 13 3618 c.3588G>T c.(3586-3588)GGG>GGT p.G1196G GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.3_Silent_p.G868G|GLI2_uc002tmu.3_Silent_p.G851G NM_005270 NP_005261 P10070 GLI2_HUMAN GLI-Kruppel family member GLI2 1196 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1) 13 Renal(3;0.0496) Prostate(154;0.0623) CTAGCCCTGGGGGCCTGGACA 0.672 NA 22 32 1.37657e-19 1.85415e-19 0.012319 1 0 MAP3K2 10746 broad.mit.edu 37 2 128066163 128066163 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:128066163G>C uc002toj.1 - 15 1697 c.1632C>G c.(1630-1632)ATC>ATG p.I544M NM_006609 NP_006600 Q9Y2U5 M3K2_HUMAN mitogen-activated protein kinase kinase kinase 544 Protein kinase. activation of JUN kinase activity|cellular response to mechanical stimulus nucleus ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding lung(3)|ovary(2)|large_intestine(1)|central_nervous_system(1) 7 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0706) AAACCTACCAGATGTCTGCTT 0.453 NA 40 207 0 0 0.009718 0 0 WDR33 55339 broad.mit.edu 37 2 128471546 128471546 + Silent SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:128471546C>T uc002tpg.1 - 18 3102 c.2919G>A c.(2917-2919)AGG>AGA p.R973R NM_018383 NP_060853 Q9C0J8 WDR33_HUMAN WD repeat domain 33 isoform 1 973 postreplication repair|spermatogenesis collagen|nucleus protein binding 0 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) GCTCATGCCGCCTCTCTGACA 0.632 NA 28 69 0 0 0.003755 0 0 POLR2D 5433 broad.mit.edu 37 2 128610524 128610524 + Nonsense_Mutation SNP T T A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:128610524T>A uc002tpj.2 - 2 284 c.229A>T c.(229-231)AGA>TGA p.R77* POLR2D_uc002tpk.2_Nonsense_Mutation_p.R77* NM_004805 NP_004796 O15514 RPB4_HUMAN DNA directed RNA polymerase II polypeptide D 77 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA-directed RNA polymerase activity|nucleotide binding 0 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0675) ATGGTCTCTCTGTTTTTGAAA 0.438 NA 23 132 0 0 0.00278 0 0 CCDC74B 91409 broad.mit.edu 37 2 130899923 130899923 + Silent SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:130899923G>A uc002tqm.1 - 3 389 c.327C>T c.(325-327)GCC>GCT p.A109A CCDC74B_uc010yzw.1_Silent_p.A211A|CCDC74B_uc002tqn.1_Intron|CCDC74B_uc010yzx.1_3'UTR NM_207310 NP_997193 Q96LY2 CC74B_HUMAN coiled-coil domain containing 74B 109 0 Colorectal(110;0.1) AGGGAGCAGAGGCCCTGGAAA 0.647 NA 17 44 0 0 0.00278 0 0 CCDC74A 90557 broad.mit.edu 37 2 132288183 132288183 + Silent SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:132288183C>T uc002tta.2 + 3 379 c.327C>T c.(325-327)GCC>GCT p.A109A CCDC74A_uc002ttb.2_Intron NM_138770 NP_620125 Q96AQ1 CC74A_HUMAN coiled-coil domain containing 74A 109 skin(1) 1 TTTCCAGGGCCTCTGCTCCCT 0.642 NA 9 72 0 0 0.00499 0 0 GPR39 2863 broad.mit.edu 37 2 133403100 133403100 + Missense_Mutation SNP T T A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:133403100T>A uc002ttl.2 + 2 1752 c.1283T>A c.(1282-1284)CTC>CAC p.L428H LYPD1_uc002ttm.3_3'UTR|LYPD1_uc002ttn.2_3'UTR|LYPD1_uc002tto.2_3'UTR NM_001508 NP_001499 O43194 GPR39_HUMAN G protein-coupled receptor 39 428 Cytoplasmic (Potential). integral to plasma membrane G-protein coupled receptor activity|metal ion binding 0 TCATTGAGTCTCGAGTCACTA 0.532 NA 34 54 0 0 0.003755 0 0 YSK4 80122 broad.mit.edu 37 2 135745530 135745530 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:135745530C>G uc002tue.1 - 7 943 c.912G>C c.(910-912)AAG>AAC p.K304N YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.K191N|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.3_Missense_Mutation_p.K32N|YSK4_uc002tui.3_Missense_Mutation_p.K321N NM_025052 NP_079328 Q56UN5 YSK4_HUMAN Yeast Sps1/Ste20-related kinase 4 isoform 1 304 ATP binding|protein serine/threonine kinase activity stomach(2)|urinary_tract(1)|ovary(1)|breast(1) 5 BRCA - Breast invasive adenocarcinoma(221;0.112) AGTTTTCCTCCTTCTCCAGGC 0.408 NA 8 67 0 0 0.004482 0 0 CXCR4 7852 broad.mit.edu 37 2 136872465 136872465 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:136872465C>G uc002tuz.2 - 2 1128 c.1033G>C c.(1033-1035)GAG>CAG p.E345Q CXCR4_uc002tuy.2_Missense_Mutation_p.E349Q|CXCR4_uc010fnk.2_Missense_Mutation_p.E330Q NM_003467 NP_003458 P61073 CXCR4_HUMAN chemokine (C-X-C motif) receptor 4 isoform b 345 Cytoplasmic. activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding upper_aerodigestive_tract(1)|large_intestine(1)|lung(1) 3 BRCA - Breast invasive adenocarcinoma(221;0.155) Framycetin(DB00452) CTTGAAGACTCAGACTCAGTG 0.403 NA 111 288 0 0 0.01441 0 0 LRP1B 53353 broad.mit.edu 37 2 141773472 141773472 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:141773472C>G uc002tvj.1 - 13 2955 c.1983G>C c.(1981-1983)TGG>TGC p.W661C LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 661 Extracellular (Potential).|LDL-receptor class B 7. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CCCAGTCTGTCCAATACATCC 0.403 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 9 63 0 0 0.004482 0 0 ZEB2 9839 broad.mit.edu 37 2 145156847 145156847 + Nonsense_Mutation SNP A A T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:145156847A>T uc002tvu.2 - 8 2387 c.1907T>A c.(1906-1908)TTG>TAG p.L636* ZEB2_uc002tvv.2_Nonsense_Mutation_p.L630*|ZEB2_uc010zbm.1_Nonsense_Mutation_p.L607*|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Nonsense_Mutation_p.L665* NM_014795 NP_055610 O60315 ZEB2_HUMAN zinc finger homeobox 1b 636 cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1) 9 BRCA - Breast invasive adenocarcinoma(221;0.112) TACAGATGACAAGAGGAGGGC 0.443 Melanoma(33;1235 1264 5755 16332) NA 6 60 0 0 0.001984 0 0 LYPD6B 130576 broad.mit.edu 37 2 150071151 150071151 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:150071151G>C uc002twv.1 + 7 952 c.551G>C c.(550-552)AGA>ACA p.R184T LYPD6B_uc002tww.1_Missense_Mutation_p.R146T|LYPD6B_uc002twx.1_Missense_Mutation_p.R146T NM_177964 NP_808879 Q8NI32 LPD6B_HUMAN LY6/PLAUR domain containing 6B 160 anchored to membrane|plasma membrane 0 CACGCTCAGAGAACATCTGGC 0.498 NA 23 178 0 0 0.014323 0 0 KCNJ3 3760 broad.mit.edu 37 2 155555776 155555776 + Silent SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:155555776C>A uc002tyv.1 + 1 684 c.489C>A c.(487-489)CTC>CTA p.L163L KCNJ3_uc010zce.1_Silent_p.L163L NM_002239 NP_002230 P48549 IRK3_HUMAN potassium inwardly-rectifying channel J3 163 Helical; Name=M2; (By similarity). synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding upper_aerodigestive_tract(1)|pancreas(1) 2 Halothane(DB01159) TCCTCTTCCTCTTCCAGTCCA 0.572 NA 9 85 1.12685e-05 1.25378e-05 0.004482 1 0 DPP4 1803 broad.mit.edu 37 2 162876803 162876803 + Missense_Mutation SNP A A T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:162876803A>T uc002ubz.2 - 14 1741 c.1180T>A c.(1180-1182)TGC>AGC p.C394S DPP4_uc010fpb.2_Missense_Mutation_p.C70S NM_001935 NP_001926 P27487 DPP4_HUMAN dipeptidylpeptidase IV 394 Extracellular (Potential). cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity ovary(3) 3 Sitagliptin(DB01261) ATAAATGTGCAGTCCTGATGG 0.318 NA 4 40 0 0 0.009096 0 0 SCN2A 6326 broad.mit.edu 37 2 166211047 166211047 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:166211047G>A uc002udc.2 + 17 3555 c.3265G>A c.(3265-3267)GAA>AAA p.E1089K SCN2A_uc002udd.2_Missense_Mutation_p.E1089K|SCN2A_uc002ude.2_Missense_Mutation_p.E1089K NM_001040142 NP_001035232 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha 1089 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|breast(1)|pancreas(1) 8 Lamotrigine(DB00555) TGTCGTGGATGAAAGTGATTA 0.373 NA 8 41 0 0 0.004482 0 0 SCN2A 6326 broad.mit.edu 37 2 166211143 166211143 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:166211143G>A uc002udc.2 + 17 3651 c.3361G>A c.(3361-3363)GAA>AAA p.E1121K SCN2A_uc002udd.2_Missense_Mutation_p.E1121K|SCN2A_uc002ude.2_Missense_Mutation_p.E1121K NM_001040142 NP_001035232 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha 1121 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|breast(1)|pancreas(1) 8 Lamotrigine(DB00555) AAATACTGAAGAATTCAGCAG 0.323 NA 6 32 0 0 0.001168 0 0 SCN1A 6323 broad.mit.edu 37 2 166930006 166930006 + Missense_Mutation SNP T T A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:166930006T>A uc010zcz.1 - 1 144 c.126A>T c.(124-126)AAA>AAT p.K42N NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 42 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) CGTCGTCATCTTTTTTGTCTG 0.443 NA 119 107 0 0 0.01441 0 0 XIRP2 129446 broad.mit.edu 37 2 168106754 168106754 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:168106754G>T uc002udx.2 + 8 8870 c.8852G>T c.(8851-8853)CGT>CTT p.R2951L XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.R2776L|XIRP2_uc010fpq.2_Missense_Mutation_p.R2729L|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Missense_Mutation_p.R297L NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 2776 Potential. actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 TTGAGAAAACGTGAAGAACTG 0.373 NA 47 41 4.10826e-27 5.67573e-27 0.01441 1 0 LRP2 4036 broad.mit.edu 37 2 170112651 170112651 + Missense_Mutation SNP T T A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:170112651T>A uc002ues.2 - 19 2948 c.2735A>T c.(2734-2736)CAG>CTG p.Q912L LRP2_uc010zdf.1_Missense_Mutation_p.Q775L NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 912 LDL-receptor class B 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) ATGTGTCATCTGCTCTATATG 0.363 NA 23 23 0 0 0.00333 0 0 GAD1 2571 broad.mit.edu 37 2 171715359 171715359 + Missense_Mutation SNP A A T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:171715359A>T uc002ugi.2 + 16 1989 c.1567A>T c.(1567-1569)AGG>TGG p.R523W GAD1_uc010fqc.2_Missense_Mutation_p.R142W NM_000817 NP_000808 Q99259 DCE1_HUMAN glutamate decarboxylase 1 isoform GAD67 523 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding ovary(1) 1 L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) ACAAAGCCTCAGGGGTGTGCC 0.438 NA 17 15 0 0 0.006122 0 0 WIPF1 7456 broad.mit.edu 37 2 175436880 175436880 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:175436880G>C uc002uiy.2 - 6 985 c.653C>G c.(652-654)ACT>AGT p.T218S uc002uiw.2_Intron|uc002uix.1_Intron|WIPF1_uc002uja.2_Missense_Mutation_p.T218S|WIPF1_uc010fqt.1_Missense_Mutation_p.T218S|WIPF1_uc002ujc.1_Missense_Mutation_p.T218S|WIPF1_uc002uiz.2_Missense_Mutation_p.T218S|WIPF1_uc002ujb.1_Missense_Mutation_p.T218S|WIPF1_uc010zep.1_Missense_Mutation_p.T218S NM_003387 NP_003378 O43516 WIPF1_HUMAN WAS/WASL interacting protein family, member 1 218 actin polymerization or depolymerization|protein complex assembly cytoplasmic membrane-bounded vesicle actin binding|profilin binding ovary(1)|skin(1) 2 AGGGGGAGGAGTGGGCCCGGG 0.657 NA 12 106 0 0 0.00245 0 0 CHRNA1 1134 broad.mit.edu 37 2 175614714 175614714 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:175614714C>A uc002ujd.2 - 8 1115 c.1037G>T c.(1036-1038)CGC>CTC p.R346L uc002uiw.2_Intron|CHRNA1_uc002uje.2_Missense_Mutation_p.R321L NM_001039523 NP_001034612 P02708 ACHA_HUMAN nicotinic cholinergic receptor alpha 1 isoform a 346 Cytoplasmic. muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity ovary(2)|central_nervous_system(1)|skin(1) 4 GCTGGGTGAGCGGTGGTGTGT 0.557 NA 49 52 4.0306e-16 5.32039e-16 0.01441 1 0 TTN 7273 broad.mit.edu 37 2 179396241 179396241 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:179396241C>T uc010zfg.1 - 307 97621 c.97397G>A c.(97396-97398)GGG>GAG p.G32466E uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G26161E|TTN_uc010zfi.1_Missense_Mutation_p.G26094E|TTN_uc010zfj.1_Missense_Mutation_p.G25969E|TTN_uc002umq.2_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 33393 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) GGTATAATCCCCTCCTGTCAC 0.493 NA 38 43 0 0 0.004878 0 0 TTN 7273 broad.mit.edu 37 2 179407526 179407526 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:179407526C>A uc010zfg.1 - 297 89575 c.89351G>T c.(89350-89352)CGT>CTT p.R29784L uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R23479L|TTN_uc010zfi.1_Missense_Mutation_p.R23412L|TTN_uc010zfj.1_Missense_Mutation_p.R23287L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 30711 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) AACTGTGACACGCTCTGATTC 0.458 NA 18 122 7.81268e-19 1.0494e-18 0.00499 1 0 TTN 7273 broad.mit.edu 37 2 179451993 179451993 + Silent SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:179451993G>T uc010zfg.1 - 256 56465 c.56241C>A c.(56239-56241)ACC>ACA p.T18747T uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.T12442T|TTN_uc010zfi.1_Silent_p.T12375T|TTN_uc010zfj.1_Silent_p.T12250T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 19674 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) CTGGGGTAACGGTCGACCATG 0.488 NA 13 68 0.00136819 0.00143231 0.013537 1 0 TTN 7273 broad.mit.edu 37 2 179516838 179516838 + Missense_Mutation SNP T T A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:179516838T>A uc010zfg.1 - 158 32202 c.31978A>T c.(31978-31980)AGT>TGT p.S10660C TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc010fre.1_Intron|TTN_uc002umw.1_5'Flank|TTN_uc002umx.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 11587 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) GGGGGAGGACTTTCCGGTTTG 0.348 NA 22 83 0 0 0.00278 0 0 TTN 7273 broad.mit.edu 37 2 179575833 179575833 + Missense_Mutation SNP T T G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:179575833T>G uc010zfg.1 - 94 24622 c.24398A>C c.(24397-24399)AAC>ACC p.N8133T TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.N4794T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 9060 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) GCCTATAGGGTTTGTAGCTGT 0.383 NA 5 106 0 0 0.001168 0 0 TTN 7273 broad.mit.edu 37 2 179596652 179596652 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:179596652C>A uc010zfg.1 - 55 13442 c.13218G>T c.(13216-13218)AAG>AAT p.K4406N TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.K1067N NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 5333 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) CATCGTACTCCTTTAAGACTT 0.433 NA 18 64 1.67942e-08 2.01031e-08 0.006122 1 0 TTN 7273 broad.mit.edu 37 2 179599169 179599169 + Missense_Mutation SNP A A T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:179599169A>T uc010zfg.1 - 49 11874 c.11650T>A c.(11650-11652)TCT>ACT p.S3884T TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S545T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 4811 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) CACACAAGAGACTTCTGAGAA 0.393 NA 23 67 0 0 0.012319 0 0 TTN 7273 broad.mit.edu 37 2 179612234 179612234 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:179612234G>C uc002unb.2 - 46 15117 c.14893C>G c.(14893-14895)CCT>GCT p.P4965A TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 1082 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) TCAGACTCAGGAGAAAGTGGA 0.393 NA 11 74 0 0 0.008291 0 0 TTN 7273 broad.mit.edu 37 2 179640848 179640848 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:179640848C>G uc010zfg.1 - 28 5967 c.5743G>C c.(5743-5745)GAA>CAA p.E1915Q TTN_uc010zfh.1_Missense_Mutation_p.E1869Q|TTN_uc010zfi.1_Missense_Mutation_p.E1869Q|TTN_uc010zfj.1_Missense_Mutation_p.E1869Q|TTN_uc002unb.2_Missense_Mutation_p.E1915Q|uc002unc.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 1915 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) TCAGGATTTTCCGCGGTGACC 0.463 NA 36 221 0 0 0.003755 0 0 TTN 7273 broad.mit.edu 37 2 179641721 179641721 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:179641721C>A uc010zfg.1 - 28 5094 c.4870G>T c.(4870-4872)GAT>TAT p.D1624Y TTN_uc010zfh.1_Missense_Mutation_p.D1578Y|TTN_uc010zfi.1_Missense_Mutation_p.D1578Y|TTN_uc010zfj.1_Missense_Mutation_p.D1578Y|TTN_uc002unb.2_Missense_Mutation_p.D1624Y|uc002unc.1_RNA NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 1624 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) CAGGCAGAATCTTGGCTGACA 0.423 NA 27 37 7.92952e-12 1.00032e-11 0.003954 1 0 ZNF804A 91752 broad.mit.edu 37 2 185801543 185801543 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:185801543G>C uc002uph.2 + 4 2014 c.1420G>C c.(1420-1422)GAT>CAT p.D474H NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 474 intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 TAATAATCTAGATAAAAATAA 0.343 NA 31 28 0 0 0.008361 0 0 COL3A1 1281 broad.mit.edu 37 2 189839268 189839268 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:189839268C>A uc002uqj.1 + 1 170 c.53C>A c.(52-54)CCC>CAC p.P18H NM_000090 NP_000081 P02461 CO3A1_HUMAN collagen type III alpha 1 preproprotein 18 axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding central_nervous_system(7)|ovary(4)|large_intestine(2) 13 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) CTGCTTCATCCCACTATTATT 0.408 NA 7 40 0.00307968 0.00319864 0.00308 1 0 COL3A1 1281 broad.mit.edu 37 2 189866142 189866142 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:189866142G>T uc002uqj.1 + 33 2420 c.2303G>T c.(2302-2304)GGT>GTT p.G768V NM_000090 NP_000081 P02461 CO3A1_HUMAN collagen type III alpha 1 preproprotein 768 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding central_nervous_system(7)|ovary(4)|large_intestine(2) 13 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) GGTCCTATTGGTCCTCCTGGC 0.368 NA 6 69 3.59834e-05 3.94026e-05 0.001168 1 0 DNAH7 56171 broad.mit.edu 37 2 196664137 196664137 + Silent SNP T T A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:196664137T>A uc002utj.3 - 55 10337 c.10236A>T c.(10234-10236)CCA>CCT p.P3412P NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3412 AAA 6 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 CAAAGGGGGGTGGTTCAATGA 0.428 NA 12 91 0 0 0.013537 0 0 ANKRD44 91526 broad.mit.edu 37 2 198051794 198051794 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:198051794C>G uc002uuc.2 - 2 231 c.64G>C c.(64-66)GAG>CAG p.E22Q ANKRD44_uc002uua.1_5'UTR|ANKRD44_uc002uub.2_Missense_Mutation_p.E22Q|ANKRD44_uc010zgw.1_5'UTR|ANKRD44_uc002uud.1_Missense_Mutation_p.E22Q NM_153697 NP_710181 Q8N8A2 ANR44_HUMAN ankyrin repeat domain 44 22 ANK 1. protein binding ovary(4)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(117;0.246) CGGATCTCCTCTGGATCACCG 0.443 NA 34 124 0 0 0.012213 0 0 MOBKL3 25843 broad.mit.edu 37 2 198400314 198400314 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:198400314G>A uc002uun.3 + 3 224 c.184G>A c.(184-186)GAA>AAA p.E62K MOBKL3_uc002uum.3_Missense_Mutation_p.E30K|MOBKL3_uc010fsn.2_Missense_Mutation_p.E41K|MOBKL3_uc010fso.2_Intron|MOBKL3_uc010zgz.1_5'UTR NM_015387 NP_056202 Q9Y3A3 MOBL3_HUMAN Mps One Binder kinase activator-like 3 isoform 62 transport Golgi cisterna membrane|perinuclear region of cytoplasm metal ion binding|protein binding 0 Epithelial(96;0.225) TGAACCACCTGAAGGCCAAGA 0.318 NA 53 51 0 0 0.01441 0 0 PLCL1 5334 broad.mit.edu 37 2 198953721 198953721 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:198953721C>T uc010fsp.2 + 3 3146 c.2855C>T c.(2854-2856)CCT>CTT p.P952L PLCL1_uc002uuv.3_Missense_Mutation_p.P873L 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; 952 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|skin(1) 2 Quinacrine(DB01103) GACAGCTTTCCTTACCTGGAG 0.453 NA 57 74 0 0 0.01441 0 0 CFLAR 8837 broad.mit.edu 37 2 201994633 201994633 + Silent SNP A A C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:201994633A>C uc002uxb.3 + 2 497 c.45A>C c.(43-45)ACA>ACC p.T15T CFLAR_uc002uwy.2_Silent_p.T15T|CFLAR_uc002uwz.2_Silent_p.T15T|CFLAR_uc002uxa.3_Silent_p.T15T|CFLAR_uc010zhk.1_Intron|CFLAR_uc002uxc.3_Silent_p.T15T|CFLAR_uc010zhl.1_Intron|CFLAR_uc010fsw.1_RNA|CFLAR_uc002uxd.3_Silent_p.T15T|CFLAR_uc002uxe.2_Silent_p.T15T|CFLAR_uc002uxf.2_Silent_p.T15T|CFLAR_uc010fsy.2_RNA|CFLAR_uc010fsx.2_Silent_p.T15T NM_003879 NP_003870 O15519 CFLAR_HUMAN CASP8 and FADD-like apoptosis regulator isoform 15 Interaction with FADD.|Interaction with caspase-8.|DED 1.|Interaction with caspase-8 propeptide.|Not proteolytically processed and involved in apoptosis inhibition. anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis cysteine-type endopeptidase activity|protein binding 0 CACTTGATACAGATGAGAAGG 0.478 Pancreas(16;548 657 22190 32864 42338) NA 16 186 0 0 0.004007 0 0 ALS2CR12 130540 broad.mit.edu 37 2 202207129 202207129 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:202207129C>A uc010ftg.2 - 7 932 c.488G>T c.(487-489)TGT>TTT p.C163F ALS2CR12_uc002uya.3_Missense_Mutation_p.C163F|ALS2CR12_uc010fth.2_Intron NM_139163 NP_631902 Q96Q35 AL2SB_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 163 Potential. regulation of GTPase activity protein binding ovary(1)|breast(1)|central_nervous_system(1) 3 CATCTCAGCACAGCGGAGATC 0.483 NA 15 12 2.23348e-06 2.53163e-06 0.004007 1 0 BMPR2 659 broad.mit.edu 37 2 203421164 203421164 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:203421164G>A uc002uzf.3 + 12 3924 c.2776G>A c.(2776-2778)GAT>AAT p.D926N BMPR2_uc010ftr.2_Intron NM_001204 NP_001195 Q13873 BMPR2_HUMAN bone morphogenetic protein receptor type II 926 Cytoplasmic (Potential). anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway integral to plasma membrane ATP binding|metal ion binding|transforming growth factor beta receptor activity ovary(4)|breast(2)|large_intestine(1)|stomach(1)|pancreas(1) 9 CACAGCAGCAGATCCTGGGCC 0.488 NA 6 167 0 0 0.001168 0 0 ICA1L 130026 broad.mit.edu 37 2 203653590 203653590 + Silent SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:203653590G>A uc002uzh.1 - 12 1370 c.1206C>T c.(1204-1206)CTC>CTT p.L402L ICA1L_uc002uzi.1_Silent_p.L402L NM_138468 NP_612477 Q8NDH6 ICA1L_HUMAN islet cell autoantigen 1,69kDa-like isoform 1 402 0 CAAGGTCAAAGAGTTGTGAAG 0.483 NA 8 40 0 0 0.004482 0 0 RAPH1 65059 broad.mit.edu 37 2 204322288 204322288 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:204322288C>G uc002vad.2 - 8 1348 c.1123G>C c.(1123-1125)GAG>CAG p.E375Q RAPH1_uc002vae.2_Missense_Mutation_p.E427Q|RAPH1_uc002vaf.2_Missense_Mutation_p.E427Q NM_213589 NP_998754 Q70E73 RAPH1_HUMAN Ras association and pleckstrin homology domains 375 cell-matrix adhesion|signal transduction cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane ovary(3)|breast(3)|central_nervous_system(2)|lung(1)|skin(1) 10 TCTGCCATCTCAGCTGTTTCT 0.318 NA 8 164 0 0 0.006214 0 0 NRP2 8828 broad.mit.edu 37 2 206607987 206607987 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:206607987C>T uc002vaw.2 + 9 2143 c.1352C>T c.(1351-1353)TCC>TTC p.S451F NRP2_uc002vat.2_Missense_Mutation_p.S451F|NRP2_uc002vau.2_Missense_Mutation_p.S451F|NRP2_uc002vav.2_Missense_Mutation_p.S451F|NRP2_uc002vax.2_Missense_Mutation_p.S451F|NRP2_uc002vay.2_Missense_Mutation_p.S451F|NRP2_uc010fud.2_Missense_Mutation_p.S451F NM_201266 NP_957718 O60462 NRP2_HUMAN neuropilin 2 isoform 1 precursor 451 Extracellular (Potential).|F5/8 type C 2. angiogenesis|axon guidance|cell adhesion integral to membrane|membrane fraction|plasma membrane heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 TCCCAGATCTCCGCCTCTTCC 0.617 NA 45 312 0 0 0.01441 0 0 PIKFYVE 200576 broad.mit.edu 37 2 209218694 209218694 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:209218694G>T uc002vcz.2 + 40 6075 c.5917G>T c.(5917-5919)GTC>TTC p.V1973F NM_015040 NP_055855 Q9Y2I7 FYV1_HUMAN phosphatidylinositol-3-phosphate 5-kinase type 1973 Catalytic.|PIPK. cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1) 10 TTGTGATGTGGTCCTGCTAGA 0.393 NA 33 39 1.06801e-11 1.34381e-11 0.009535 1 0 VWC2L 402117 broad.mit.edu 37 2 215279129 215279129 + Missense_Mutation SNP A A G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:215279129A>G uc002vet.2 + 2 342 c.212A>G c.(211-213)CAT>CGT p.H71R VWC2L_uc010zjl.1_Missense_Mutation_p.H71R NM_001080500 NP_001073969 B2RUY7 VWC2L_HUMAN von Willebrand factor C domain-containing 71 VWFC 1. extracellular region 0 TTCCCTGGGCATTCCAACTGT 0.453 NA 7 10 0 0 0.001984 0 0 FN1 2335 broad.mit.edu 37 2 216279643 216279643 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:216279643G>C uc002vfa.2 - 13 2124 c.1858C>G c.(1858-1860)CCG>GCG p.P620A FN1_uc002vfb.2_Missense_Mutation_p.P620A|FN1_uc002vfc.2_Missense_Mutation_p.P620A|FN1_uc002vfd.2_Missense_Mutation_p.P620A|FN1_uc002vfe.2_Missense_Mutation_p.P620A|FN1_uc002vff.2_Missense_Mutation_p.P620A|FN1_uc002vfg.2_Missense_Mutation_p.P620A|FN1_uc002vfh.2_Missense_Mutation_p.P620A|FN1_uc002vfi.2_Missense_Mutation_p.P620A|FN1_uc002vfj.2_Missense_Mutation_p.P620A|FN1_uc002vfl.2_Missense_Mutation_p.P620A NM_212482 NP_997647 P02751 FINC_HUMAN fibronectin 1 isoform 1 preproprotein 620 Fibronectin type-III 1. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1) 13 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGCTGACTCGGAGTCTCAGTG 0.443 NA 4 27 0 0 0.009096 0 0 MARCH4 57574 broad.mit.edu 37 2 217234937 217234937 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:217234937C>T uc002vgb.2 - 1 1814 c.47G>A c.(46-48)TGC>TAC p.C16Y NM_020814 NP_065865 Q9P2E8 MARH4_HUMAN membrane-associated ring finger (C3HC4) 4 16 Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 Renal(323;0.0854) Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125) CCAGCCGGAGCAGCAGCACCA 0.617 NA 10 15 0 0 0.006214 0 0 TNS1 7145 broad.mit.edu 37 2 218713785 218713785 + Silent SNP T T A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:218713785T>A uc002vgt.2 - 17 1478 c.1080A>T c.(1078-1080)CCA>CCT p.P360P TNS1_uc002vgr.2_Silent_p.P360P|TNS1_uc002vgs.2_Silent_p.P360P|TNS1_uc010zjv.1_Silent_p.P360P|TNS1_uc010fvj.1_Silent_p.P428P|TNS1_uc010fvk.1_Silent_p.P485P|TNS1_uc010fvi.1_Silent_p.P47P NM_022648 NP_072174 Q9HBL0 TENS1_HUMAN tensin 360 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) TCCCATCTAGTGGCCCCTGCG 0.597 NA 135 141 0 0 0.01441 0 0 CXCR2 3579 broad.mit.edu 37 2 219000386 219000386 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:219000386C>A uc002vgz.1 + 4 1087 c.862C>A c.(862-864)CGC>AGC p.R288S CXCR2_uc002vha.1_Missense_Mutation_p.R288S|CXCR2_uc002vhb.1_Missense_Mutation_p.R288S NM_001557 NP_001548 P25025 CXCR2_HUMAN interleukin 8 receptor beta 288 Extracellular (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation cell surface|integral to plasma membrane|mast cell granule interleukin-8 receptor activity lung(1)|breast(1) 2 GACCTGTGAGCGCCGCAATCA 0.592 NA 80 66 1.94393e-27 2.69331e-27 0.01441 1 0 ZNF142 7701 broad.mit.edu 37 2 219507065 219507065 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:219507065G>A uc002vin.2 - 8 4610 c.4174C>T c.(4174-4176)CGG>TGG p.R1392W ZNF142_uc002vil.2_Missense_Mutation_p.R1353W|ZNF142_uc010fvt.2_Missense_Mutation_p.R1229W|ZNF142_uc002vim.2_Missense_Mutation_p.R1229W NM_001105537 NP_001099007 P52746 ZN142_HUMAN zinc finger protein 142 1392 C2H2-type 23. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|ovary(1)|skin(1) 4 Renal(207;0.0474) Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) AGGCCCACCCGCTCCCGGGCA 0.637 Colon(170;867 1942 8995 15834 18053) NA 94 90 0 0 0.01441 0 0 TTLL4 9654 broad.mit.edu 37 2 219617644 219617644 + Silent SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:219617644C>T uc002viy.2 + 17 3505 c.3135C>T c.(3133-3135)TTC>TTT p.F1045F TTLL4_uc010zkl.1_Silent_p.F880F|TTLL4_uc010fvx.2_Silent_p.F981F|TTLL4_uc010zkm.1_Silent_p.F248F NM_014640 NP_055455 Q14679 TTLL4_HUMAN tubulin tyrosine ligase-like family, member 4 1045 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) CACGATATTTCAACATTCTCA 0.448 GBM(172;1818 2053 15407 20943 49753) NA 5 176 0 0 0.001984 0 0 TTLL4 9654 broad.mit.edu 37 2 219617846 219617846 + Silent SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:219617846C>T uc002viy.2 + 18 3566 c.3196C>T c.(3196-3198)CTG>TTG p.L1066L TTLL4_uc010zkl.1_Silent_p.L901L|TTLL4_uc010fvx.2_Silent_p.L1002L|TTLL4_uc010zkm.1_3'UTR NM_014640 NP_055455 Q14679 TTLL4_HUMAN tubulin tyrosine ligase-like family, member 4 1066 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) AGGAGTAGATCTGCTCCGGAG 0.498 GBM(172;1818 2053 15407 20943 49753) NA 8 424 0 0 0.004482 0 0 TTLL4 9654 broad.mit.edu 37 2 219619112 219619112 + Silent SNP A A G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:219619112A>G uc002viy.2 + 20 3970 c.3600A>G c.(3598-3600)TAA>TAG p.*1200* TTLL4_uc010zkl.1_3'UTR|TTLL4_uc010fvx.2_Silent_p.*1136* NM_014640 NP_055455 Q14679 TTLL4_HUMAN tubulin tyrosine ligase-like family, member 4 1200 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) TGAGCCCATAACTGGCCTCTC 0.552 GBM(172;1818 2053 15407 20943 49753) NA 5 109 0 0 0.001168 0 0 IHH 3549 broad.mit.edu 37 2 219920102 219920102 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:219920102G>A uc002vjo.1 - 3 1063 c.1063C>T c.(1063-1065)CAC>TAC p.H355Y NM_002181 NP_002172 Q14623 IHH_HUMAN Indian hedgehog homolog precursor 355 cell-cell signaling|intein-mediated protein splicing|proteolysis extracellular space|plasma membrane cholesterol binding|patched binding|peptidase activity breast(1) 1 Renal(207;0.0915) Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TGAGCCAGGTGGTGGTCAGCC 0.647 NA 33 37 0 0 0.013726 0 0 NHEJ1 79840 broad.mit.edu 37 2 219942919 219942919 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:219942919C>T uc002vjp.3 - 6 744 c.598G>A c.(598-600)GAG>AAG p.E200K NHEJ1_uc002vjq.3_RNA NM_024782 NP_079058 Q9H9Q4 NHEJ1_HUMAN nonhomologous end-joining factor 1 200 B cell differentiation|central nervous system development|DNA recombination|double-strand break repair via nonhomologous end joining|positive regulation of ligase activity|response to ionizing radiation|T cell differentiation nonhomologous end joining complex|nucleus DNA binding|identical protein binding lung(1) 1 Renal(207;0.0915) Epithelial(149;2.15e-06)|all cancers(144;0.000339)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0112) CTGCATGCCTCTGGCAGTTTC 0.478 NA Direct_reversal_of_damage|NHEJ 25 41 0 0 0.003954 0 0 ANKZF1 55139 broad.mit.edu 37 2 220097894 220097894 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:220097894G>C uc002vkg.2 + 6 826 c.652G>C c.(652-654)GCT>CCT p.A218P ANKZF1_uc010zkv.1_Missense_Mutation_p.A162P|ANKZF1_uc010zkw.1_Missense_Mutation_p.A8P|ANKZF1_uc002vkh.2_Missense_Mutation_p.A8P|ANKZF1_uc002vki.2_Missense_Mutation_p.A218P|ANKZF1_uc002vkj.1_Missense_Mutation_p.A206P NM_018089 NP_060559 Q9H8Y5 ANKZ1_HUMAN ankyrin repeat and zinc finger domain containing 218 intracellular zinc ion binding ovary(2) 2 Renal(207;0.0474) Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TGGGCACTTTGCTGGTGCTAT 0.557 NA 95 234 0 0 0.01441 0 0 STK11IP 114790 broad.mit.edu 37 2 220473349 220473349 + Nonsense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:220473349G>T uc002vml.2 + 15 1724 c.1681G>T c.(1681-1683)GAG>TAG p.E561* STK11IP_uc010zll.1_Nonsense_Mutation_p.E518*|STK11IP_uc002vmm.1_Nonsense_Mutation_p.E550* NM_052902 NP_443134 Q8N1F8 S11IP_HUMAN LKB1 interacting protein 561 Glu-rich. protein localization cytoplasm protein kinase binding ovary(1) 1 Renal(207;0.0183) Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGAGGGGCCTGAGGGCGTACG 0.607 NA 11 81 1.49906e-05 1.65776e-05 0.00245 1 0 PAX3 5077 broad.mit.edu 37 2 223084905 223084905 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:223084905G>T uc010fwo.2 - 7 1493 c.1127C>A c.(1126-1128)CCC>CAC p.P376H PAX3_uc002vmt.1_Missense_Mutation_p.P376H|PAX3_uc002vmy.1_Missense_Mutation_p.P375H|PAX3_uc002vmv.1_Missense_Mutation_p.P376H|PAX3_uc002vmw.1_Missense_Mutation_p.P376H|PAX3_uc002vmx.1_Missense_Mutation_p.P376H NM_181457 NP_852122 P23760 PAX3_HUMAN paired box 3 isoform PAX3 376 apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4) soft_tissue(761)|ovary(4)|skin(1) 766 Renal(207;0.0183) Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGGGTTGGAGGGCCCCGACGG 0.542 NA T FOXO1A|NCOA1 alveolar rhabdomyosarcoma Waardenburg syndrome; craniofacial-deafness-hand syndrome 7 39 2.0095e-06 2.28488e-06 0.001984 1 0 KIAA1486 57624 broad.mit.edu 37 2 226273676 226273676 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:226273676G>C uc002voe.2 + 2 255 c.80G>C c.(79-81)GGG>GCG p.G27A KIAA1486_uc010fxa.1_Missense_Mutation_p.G22A NM_020864 NP_065915 Q9P242 K1486_HUMAN hypothetical protein LOC57624 27 ovary(2)|central_nervous_system(1) 3 Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129) Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223) GAGGATATGGGGATGAAGGCC 0.428 NA 14 18 0 0 0.003163 0 0 IRS1 3667 broad.mit.edu 37 2 227661262 227661262 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:227661262G>C uc002voh.3 - 1 2245 c.2193C>G c.(2191-2193)GAC>GAG p.D731E NM_005544 NP_005535 P35568 IRS1_HUMAN insulin receptor substrate 1 731 fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity caveola|cytosol|insulin receptor complex|microsome|nucleus insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1) 12 Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23) Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137) TGTTCATGTAGTCACCTGTGC 0.597 NA OREG0015248 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 311 0 0 0.013537 0 0 C2orf83 56918 broad.mit.edu 37 2 228497784 228497784 + Silent SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:228497784C>A uc002vph.2 - 1 253 c.18G>T c.(16-18)CTG>CTT p.L6L C2orf83_uc010zlu.1_Silent_p.L6L NM_020161 NP_064546 Q53S99 CB083_HUMAN hypothetical protein LOC56918 isoform 1 6 membrane folic acid binding|reduced folate carrier activity 0 TTCCAAACGTCAGGGCATAGT 0.428 NA 13 17 0.000219431 0.000235836 0.00245 1 0 PID1 55022 broad.mit.edu 37 2 230020567 230020567 + Silent SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:230020567C>G uc002vpr.3 - 2 281 c.243G>C c.(241-243)CCG>CCC p.P81P PID1_uc002vps.3_Silent_p.P79P|PID1_uc002vpt.3_Silent_p.P48P|PID1_uc002vpu.3_Intron NM_001100818 NP_001094288 Q7Z2X4 PCLI1_HUMAN phosphotyrosine interaction domain containing 1 81 cytoplasm breast(3)|skin(1) 4 Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171) Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189) TCTTCATCAGCGGTGTGGTCG 0.527 NA 33 64 0 0 0.009535 0 0 DIS3L2 129563 broad.mit.edu 37 2 232894773 232894773 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:232894773C>T uc010fxz.2 + 5 625 c.349C>T c.(349-351)CCC>TCC p.P117S DIS3L2_uc002vsm.3_RNA|DIS3L2_uc002vsn.1_Missense_Mutation_p.P117S|DIS3L2_uc002vso.2_RNA NM_152383 NP_689596 Q8IYB7 DI3L2_HUMAN DIS3 mitotic control homolog (S. 117 exonuclease activity|ribonuclease activity|RNA binding ovary(1)|breast(1)|central_nervous_system(1) 3 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) GAAACTGCTTCCCGAGGAGCA 0.428 NA 26 21 0 0 0.00333 0 0 SH3BP4 23677 broad.mit.edu 37 2 235949751 235949751 + Missense_Mutation SNP A A G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:235949751A>G uc002vvp.2 + 4 731 c.338A>G c.(337-339)AAC>AGC p.N113S SH3BP4_uc010fym.2_Missense_Mutation_p.N113S|SH3BP4_uc002vvq.2_Missense_Mutation_p.N113S NM_014521 NP_055336 Q9P0V3 SH3B4_HUMAN SH3-domain binding protein 4 113 SH3. endocytosis clathrin-coated vesicle|coated pit|nucleus protein binding skin(3)|ovary(1) 4 Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419) Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237) CAGCCCTTGAACTACCGGAAC 0.552 NA 8 36 0 0 0.00308 0 0 SH3BP4 23677 broad.mit.edu 37 2 235962399 235962399 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:235962399C>T uc002vvp.2 + 6 3224 c.2831C>T c.(2830-2832)TCC>TTC p.S944F SH3BP4_uc010fym.2_Missense_Mutation_p.S926F|SH3BP4_uc002vvq.2_Missense_Mutation_p.S944F NM_014521 NP_055336 Q9P0V3 SH3B4_HUMAN SH3-domain binding protein 4 944 endocytosis clathrin-coated vesicle|coated pit|nucleus protein binding skin(3)|ovary(1) 4 Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419) Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237) TTGGTGAACTCCCTGGACGTT 0.597 NA 14 119 0 0 0.001855 0 0 SCLY 51540 broad.mit.edu 37 2 239006934 239006934 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:239006934G>C uc010fyv.2 + 12 1340 c.1276G>C c.(1276-1278)GAG>CAG p.E426Q SCLY_uc002vxm.3_Missense_Mutation_p.E393Q|SCLY_uc010znq.1_Missense_Mutation_p.E220Q|SCLY_uc010znr.1_Missense_Mutation_p.E332Q|SCLY_uc002vxp.3_RNA|ESPNL_uc002vxq.3_5'Flank NM_016510 NP_057594 Q96I15 SCLY_HUMAN selenocysteine lyase 426 cellular amino acid metabolic process cytosol pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity ovary(2) 2 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285) CACCAGGGCCGAGGTGGACCT 0.716 Melanoma(24;424 891 11947 32582 36034)|Ovarian(46;648 1065 26199 32764 45893) NA 17 18 0 0 0.004007 0 0 KLHL30 377007 broad.mit.edu 37 2 239059471 239059471 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:239059471G>A uc002vxr.1 + 7 1481 c.1448G>A c.(1447-1449)AGC>AAC p.S483N NM_198582 NP_940984 Q0D2K2 KLH30_HUMAN kelch-like 30 501 Kelch 5. 0 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253) TCACAGCACAGCCTGCATGAG 0.672 NA 4 3 0 0 0.009096 0 0 ANKMY1 51281 broad.mit.edu 37 2 241439489 241439489 + Nonsense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:241439489C>A uc002vyz.1 - 14 2654 c.2425G>T c.(2425-2427)GAG>TAG p.E809* ANKMY1_uc002vza.1_Nonsense_Mutation_p.E585*|ANKMY1_uc010fzd.1_Nonsense_Mutation_p.E898*|ANKMY1_uc002vzb.1_Nonsense_Mutation_p.E570*|ANKMY1_uc002vzc.1_Nonsense_Mutation_p.E588*|ANKMY1_uc002vzd.1_Nonsense_Mutation_p.E632* NM_016552 NP_057636 Q9P2S6 ANKY1_HUMAN ankyrin repeat and MYND domain containing 1 809 zinc ion binding central_nervous_system(1) 1 all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476) AGGAACGTCTCGCGCTCTGCT 0.677 NA 13 16 2.27111e-07 2.64023e-07 0.013537 1 0 DUSP28 285193 broad.mit.edu 37 2 241500167 241500167 + Silent SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:241500167C>G uc002vzg.2 + 1 697 c.66C>G c.(64-66)GTC>GTG p.V22V ANKMY1_uc002vyz.1_5'Flank|ANKMY1_uc002vza.1_5'Flank|ANKMY1_uc010fzd.1_5'Flank|ANKMY1_uc002vzb.1_5'Flank|ANKMY1_uc002vzc.1_5'Flank|ANKMY1_uc002vzd.1_5'UTR|ANKMY1_uc010fze.1_5'UTR|ANKMY1_uc002vze.2_5'UTR|ANKMY1_uc002vzf.2_5'UTR|DUSP28_uc002vzh.2_Silent_p.V22V NM_001033575 NP_001028747 Q4G0W2 DUS28_HUMAN dual specificity phosphatase 28 22 protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity upper_aerodigestive_tract(1) 1 all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;2.16e-31)|all cancers(36;5.56e-29)|OV - Ovarian serous cystadenocarcinoma(60;7.57e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.06e-06)|Lung(119;0.00164)|Colorectal(34;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.00802)|COAD - Colon adenocarcinoma(134;0.0311) TGGTGCGCGTCGCGCCCTCAC 0.736 Pancreas(150;1630 2604 23402 46829) NA 4 5 0 0 0.000602 0 0 DUSP28 285193 broad.mit.edu 37 2 241500430 241500430 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:241500430C>T uc002vzg.2 + 1 960 c.329C>T c.(328-330)TCG>TTG p.S110L ANKMY1_uc002vzd.1_5'Flank|ANKMY1_uc010fze.1_5'Flank|ANKMY1_uc002vze.2_5'Flank|ANKMY1_uc002vzf.2_5'Flank|DUSP28_uc002vzh.2_Missense_Mutation_p.S110L NM_001033575 NP_001028747 Q4G0W2 DUS28_HUMAN dual specificity phosphatase 28 110 Tyrosine-protein phosphatase. protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity upper_aerodigestive_tract(1) 1 all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;2.16e-31)|all cancers(36;5.56e-29)|OV - Ovarian serous cystadenocarcinoma(60;7.57e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.06e-06)|Lung(119;0.00164)|Colorectal(34;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.00802)|COAD - Colon adenocarcinoma(134;0.0311) CGCAGCCGCTCGGCCGCCGTC 0.736 Pancreas(150;1630 2604 23402 46829) NA 3 2 0 0 0.009096 0 0 C20orf194 25943 broad.mit.edu 37 20 3262307 3262307 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr20:3262307C>T uc002wii.2 - 28 2643 c.2592G>A c.(2590-2592)ATG>ATA p.M864I C20orf194_uc002wij.3_Missense_Mutation_p.M603I|C20orf194_uc002wik.2_Missense_Mutation_p.M538I NM_001009984 NP_001009984 Q5TEA3 CT194_HUMAN hypothetical protein LOC25943 864 0 TGTAGCAGCTCATGGGCTCCA 0.483 NA 9 65 0 0 0.004482 0 0 ATRN 8455 broad.mit.edu 37 20 3541497 3541497 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr20:3541497C>G uc002wim.2 + 8 1482 c.1392C>G c.(1390-1392)ATC>ATG p.I464M ATRN_uc002wil.2_Missense_Mutation_p.I464M NM_139321 NP_647537 O75882 ATRN_HUMAN attractin isoform 1 464 Extracellular (Potential).|Kelch 3. inflammatory response extracellular space|integral to plasma membrane receptor activity|sugar binding ovary(1)|breast(1) 2 TGCTGGTCATCTTTGGTCACT 0.443 NA 13 48 0 0 0.013537 0 0 PRNP 5621 broad.mit.edu 37 20 4680383 4680383 + Missense_Mutation SNP A A C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr20:4680383A>C uc002wku.2 + 2 880 c.517A>C c.(517-519)AAC>CAC p.N173H PRNP_uc002wkv.2_Missense_Mutation_p.N173H|PRNP_uc002wkw.2_Missense_Mutation_p.N173H|PRNP_uc002wkx.2_Missense_Mutation_p.N173H|PRNP_uc002wkt.1_Missense_Mutation_p.N143H|PRNP_uc002wky.2_Missense_Mutation_p.N173H|PRNP_uc010gbe.1_Missense_Mutation_p.N173H NM_001080122 NP_001073591 P04156 PRIO_HUMAN prion protein preproprotein 173 Interaction with GRB2, ERI3 and SYN1 (By similarity). axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell receptor signaling pathway|protein homooligomerization|response to oxidative stress anchored to membrane|endoplasmic reticulum|extrinsic to membrane|Golgi apparatus|membrane raft|nucleus|plasma membrane copper ion binding|identical protein binding|microtubule binding central_nervous_system(1) 1 Tetracycline(DB00759) CAGCAACCAGAACAACTTTGT 0.493 NA 10 52 0 0 0.006214 0 0 PLCB1 23236 broad.mit.edu 37 20 8745806 8745806 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr20:8745806G>A uc002wnb.2 + 26 2734 c.2731G>A c.(2731-2733)GAA>AAA p.E911K PLCB1_uc010zrb.1_Missense_Mutation_p.E810K|PLCB1_uc002wna.2_Missense_Mutation_p.E911K|PLCB1_uc002wnc.1_Missense_Mutation_p.E810K|PLCB1_uc002wnd.1_Missense_Mutation_p.E488K NM_015192 NP_056007 Q9NQ66 PLCB1_HUMAN phosphoinositide-specific phospholipase C beta 1 911 activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1) 12 ACAGACCATCGAAGAACTAAA 0.418 NA 7 29 0 0 0.00308 0 0 C20orf103 24141 broad.mit.edu 37 20 9498764 9498764 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr20:9498764C>G uc002wni.1 + 5 782 c.553C>G c.(553-555)CAA>GAA p.Q185E C20orf103_uc010zrc.1_Missense_Mutation_p.Q141E NM_012261 NP_036393 Q9UJQ1 CT103_HUMAN chromosome 20 open reading frame 103 precursor 185 Extracellular (Potential). integral to membrane upper_aerodigestive_tract(1)|lung(1)|breast(1) 3 COAD - Colon adenocarcinoma(9;0.194) GTGTCAAGCTCAACAAACCAT 0.522 NA 8 71 0 0 0.004482 0 0 SNAP25 6616 broad.mit.edu 37 20 10286806 10286806 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr20:10286806G>T uc002wnq.1 + 8 794 c.582G>T c.(580-582)GAG>GAT p.E194D SNAP25_uc002wnr.1_Missense_Mutation_p.E194D|SNAP25_uc002wns.1_Missense_Mutation_p.E131D|SNAP25_uc010gca.1_Missense_Mutation_p.E194D|SNAP25_uc010gcb.1_Missense_Mutation_p.E131D|SNAP25_uc010gcc.1_Missense_Mutation_p.E88D NM_130811 NP_570824 P60880 SNP25_HUMAN synaptosomal-associated protein 25 isoform 194 t-SNARE coiled-coil homology 2. energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome skin(2) 2 Botulinum Toxin Type A(DB00083) GAATTGATGAGGCCAACCAAC 0.483 NA 8 28 0.000442599 0.000469777 0.006214 1 0 KIF16B 55614 broad.mit.edu 37 20 16359917 16359917 + Silent SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr20:16359917C>T uc002wpg.1 - 19 2888 c.2730G>A c.(2728-2730)CAG>CAA p.Q910Q KIF16B_uc002wpe.1_Silent_p.Q292Q|KIF16B_uc002wpf.1_Silent_p.Q292Q|KIF16B_uc010gch.1_Silent_p.Q910Q|KIF16B_uc010gci.1_Silent_p.Q910Q|KIF16B_uc010gcj.1_Silent_p.Q921Q NM_024704 NP_078980 Q96L93 KI16B_HUMAN kinesin-like motor protein C20orf23 910 Glu-rich. 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 GCAGGAGGTACTGTAGCTGGC 0.443 NA 48 70 0 0 0.013114 0 0 BFSP1 631 broad.mit.edu 37 20 17475142 17475142 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr20:17475142C>A uc002wpo.2 - 8 1614 c.1575G>T c.(1573-1575)CAG>CAT p.Q525H BFSP1_uc002wpp.2_Missense_Mutation_p.Q400H|BFSP1_uc010zrn.1_Missense_Mutation_p.Q386H|BFSP1_uc010zro.1_Missense_Mutation_p.Q386H NM_001195 NP_001186 Q12934 BFSP1_HUMAN filensin isoform 1 525 Tail. cytoplasm|intermediate filament|membrane structural constituent of cytoskeleton|structural constituent of eye lens central_nervous_system(1) 1 GCAGACCCACCTGCCCATTCT 0.547 NA 31 58 7.26314e-15 9.48389e-15 0.007291 1 0 RIN2 54453 broad.mit.edu 37 20 19955398 19955398 + Silent SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr20:19955398C>G uc002wro.1 + 7 765 c.729C>G c.(727-729)CTC>CTG p.L243L RIN2_uc010gcu.1_Intron|RIN2_uc010gcv.1_Silent_p.L37L NM_018993 NP_061866 Q8WYP3 RIN2_HUMAN Ras and Rab interactor 2 243 endocytosis|small GTPase mediated signal transduction cytoplasm GTPase activator activity|Rab guanyl-nucleotide exchange factor activity lung(4)|ovary(1) 5 TGCGTCAGCTCTGCCTTATAA 0.552 NA 7 80 0 0 0.001984 0 0 CRNKL1 51340 broad.mit.edu 37 20 20025969 20025969 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr20:20025969C>G uc002wrs.2 - 7 1299 c.1267G>C c.(1267-1269)GAA>CAA p.E423Q NM_016652 NP_057736 Q9BZJ0 CRNL1_HUMAN crooked neck-like 1 protein 423 HAT 6. spliceosome assembly catalytic step 2 spliceosome|cytoplasm|nuclear speck RNA binding ovary(2)|large_intestine(1) 3 TGATTTTCTTCAAACTTGGCA 0.363 NA 16 89 0 0 0.004007 0 0 XRN2 22803 broad.mit.edu 37 20 21346252 21346252 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr20:21346252C>G uc002wsf.1 + 26 2461 c.2366C>G c.(2365-2367)TCC>TGC p.S789C XRN2_uc002wsg.1_Missense_Mutation_p.S713C|XRN2_uc010zsk.1_Missense_Mutation_p.S735C NM_012255 NP_036387 Q9H0D6 XRN2_HUMAN 5'-3' exoribonuclease 2 789 cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent nucleolus 5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding skin(1) 1 TGGGAAAAATCCAGCAATGGA 0.473 NA 20 100 0 0 0.008871 0 0 COX4I2 84701 broad.mit.edu 37 20 30232608 30232608 + Silent SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr20:30232608G>C uc002wwj.1 + 5 492 c.417G>C c.(415-417)CGG>CGC p.R139R NM_032609 NP_115998 Q96KJ9 COX42_HUMAN cytochrome c oxidase subunit IV isoform 2 139 cellular respiration cytochrome-c oxidase activity ovary(1) 1 all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198) Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264) CGGACGAGCGGAAAGCCCAGC 0.582 NA 11 47 0 0 0.010729 0 0 HCK 3055 broad.mit.edu 37 20 30667605 30667605 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr20:30667605G>C uc002wxh.2 + 6 628 c.457G>C c.(457-459)GAC>CAC p.D153H HCK_uc010gdy.2_Missense_Mutation_p.D132H|HCK_uc002wxi.2_Missense_Mutation_p.D131H NM_002110 NP_002101 P08631 HCK_HUMAN hemopoietic cell kinase isoform p61HCK 153 SH2. interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction caveola|cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(4)|ovary(2)|central_nervous_system(2)|pancreas(1) 9 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) CAGCCGGAAGGACGCAGAGCG 0.587 NA 10 26 0 0 0.010729 0 0 PLAGL2 5326 broad.mit.edu 37 20 30784777 30784777 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr20:30784777C>G uc002wxn.2 - 3 1186 c.969G>C c.(967-969)ATG>ATC p.M323I NM_002657 NP_002648 Q9UPG8 PLAL2_HUMAN pleiomorphic adenoma gene-like 2 323 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) GAGGGTAGCTCATACCCATGG 0.567 Colon(163;15 1893 11280 16306 47518) NA 41 161 0 0 0.007835 0 0 ASXL1 171023 broad.mit.edu 37 20 31016158 31016158 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr20:31016158C>A uc002wxs.2 + 5 830 c.404C>A c.(403-405)TCC>TAC p.S135Y ASXL1_uc002wxr.1_RNA|ASXL1_uc010geb.2_Missense_Mutation_p.S77Y NM_015338 NP_056153 Q8IXJ9 ASXL1_HUMAN additional sex combs like 1 isoform 1 135 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent PR-DUB complex metal ion binding|protein binding haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1) 248 TCGAACGCATCCTGTTCTACA 0.493 NA F|N|Mis MDS|CMML 29 126 7.01153e-11 8.67924e-11 0.007291 1 0 NECAB3 63941 broad.mit.edu 37 20 32248157 32248157 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr20:32248157G>C uc002wzn.3 - 6 538 c.432C>G c.(430-432)TTC>TTG p.F144L NECAB3_uc002wzl.2_5'UTR|NECAB3_uc002wzm.3_Missense_Mutation_p.F144L|NECAB3_uc002wzo.3_RNA|NECAB3_uc002wzp.3_Missense_Mutation_p.F95L|NECAB3_uc002wzq.3_Missense_Mutation_p.F144L|NECAB3_uc002wzr.3_RNA|NECAB3_uc010geo.2_Missense_Mutation_p.F144L|C20orf144_uc002wzs.1_5'Flank NM_031232 NP_112509 Q96P71 NECA3_HUMAN N-terminal EF-hand calcium binding protein 3 144 antibiotic biosynthetic process|protein metabolic process|protein secretion|regulation of amyloid precursor protein biosynthetic process endoplasmic reticulum membrane|Golgi cis cisterna|nucleus calcium ion binding|oxidoreductase activity|protein binding lung(1) 1 CCCGCAGCAGGAAGCGCGTCA 0.637 NA 9 90 0 0 0.004482 0 0 CHMP4B 128866 broad.mit.edu 37 20 32436305 32436305 + Missense_Mutation SNP T T C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr20:32436305T>C uc002xaa.2 + 2 379 c.223T>C c.(223-225)TAT>CAT p.Y75H NM_176812 NP_789782 Q9H444 CHM4B_HUMAN chromatin modifying protein 4B 75 Potential. cellular membrane organization|endosome transport|protein transport cytosol|late endosome membrane protein binding ovary(1)|central_nervous_system(1) 2 TAAGAAGAGGTATGAGAAGCA 0.567 NA 10 48 0 0 0.008291 0 0 ASIP 434 broad.mit.edu 37 20 32848288 32848288 + Silent SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr20:32848288G>A uc002xah.1 + 1 118 c.108G>A c.(106-108)CTG>CTA p.L36L NM_001672 NP_001663 P42127 ASIP_HUMAN agouti signaling protein precursor 36 cell-cell signaling|generation of precursor metabolites and energy|hormone-mediated signaling pathway extracellular space central_nervous_system(1) 1 ACAGGAGCCTGAGAAGCAACT 0.582 NA 16 116 0 0 0.00499 0 0 NCOA6 23054 broad.mit.edu 37 20 33328826 33328826 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr20:33328826G>A uc002xav.2 - 12 7805 c.5234C>T c.(5233-5235)TCC>TTC p.S1745F NCOA6_uc002xaw.2_Missense_Mutation_p.S1745F NM_014071 NP_054790 Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 1745 EP300/CRSP3-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding ovary(3)|breast(3)|central_nervous_system(1) 7 ACAAGGAGGGGAAGGAAGCTG 0.542 NA 19 38 0 0 0.007413 0 0 FAM83C 128876 broad.mit.edu 37 20 33875629 33875629 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr20:33875629G>C uc010zux.1 - 4 1071 c.953C>G c.(952-954)TCT>TGT p.S318C FAM83C_uc002xcb.1_Intron NM_178468 NP_848563 Q9BQN1 FA83C_HUMAN hypothetical protein LOC128876 318 ovary(2) 2 BRCA - Breast invasive adenocarcinoma(18;0.00252) TGCCCGGGGAGACAGCGGGTC 0.667 NA 5 19 0 0 0.000602 0 0 RBM39 9584 broad.mit.edu 37 20 34295058 34295058 + Missense_Mutation SNP T T C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr20:34295058T>C uc002xeb.2 - 14 1635 c.1291A>G c.(1291-1293)ATG>GTG p.M431V RBM39_uc002xdz.2_Missense_Mutation_p.M407V|RBM39_uc002xea.2_Missense_Mutation_p.M274V|RBM39_uc010gfn.2_Missense_Mutation_p.M274V|RBM39_uc010zvm.1_Missense_Mutation_p.M403V|RBM39_uc002xeg.2_Missense_Mutation_p.M409V|RBM39_uc002xec.2_Missense_Mutation_p.M425V|RBM39_uc002xed.2_Missense_Mutation_p.M149V|RBM39_uc002xee.2_Missense_Mutation_p.M274V|RBM39_uc002xef.2_Missense_Mutation_p.M268V|RBM39_uc010zvn.1_Missense_Mutation_p.M274V NM_184234 NP_909122 Q14498 RBM39_HUMAN RNA binding motif protein 39 isoform a 431 Interaction with NCOA6 (By similarity). mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent centrosome|nuclear speck nucleotide binding|protein binding|RNA binding ovary(1)|central_nervous_system(1) 2 all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676) GGGTTAAACATGTTAGAGAGT 0.313 NA 6 13 0 0 0.001168 0 0 RPRD1B 58490 broad.mit.edu 37 20 36694555 36694555 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr20:36694555G>T uc002xho.3 + 6 1130 c.728G>T c.(727-729)CGC>CTC p.R243L RPRD1B_uc002xhp.3_RNA NM_021215 NP_067038 Q9NQG5 RPR1B_HUMAN Regulation of nuclear pre-mRNA domain containing 243 pancreas(1) 1 TATAACGGGCGCCTGGCAGCA 0.448 NA 19 99 1.33834e-09 1.62889e-09 0.007413 1 0 KIAA1755 85449 broad.mit.edu 37 20 36870200 36870201 + Missense_Mutation DNP GG GG AT TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr20:36870200_36870201GG>AT uc002xhy.1 - 3 604_605 c.332_333CC>AT c.(331-333)CCC>CAT p.P111H KIAA1755_uc002xhz.1_Missense_Mutation_p.P111H NM_001029864 NP_001025035 Q5JYT7 K1755_HUMAN hypothetical protein LOC85449 111 ovary(4)|pancreas(1) 5 Myeloproliferative disorder(115;0.00874) GCTCCTCCTGGGGCTCCACTTG 0.559 NA 20 117 0 0 0.004672 0 0 RALGAPB 57148 broad.mit.edu 37 20 37121587 37121587 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr20:37121587G>A uc002xiw.2 + 3 458 c.201G>A c.(199-201)ATG>ATA p.M67I RALGAPB_uc010zvz.1_Missense_Mutation_p.M67I|RALGAPB_uc002xix.2_Missense_Mutation_p.M67I|RALGAPB_uc002xiy.1_Missense_Mutation_p.M67I|RALGAPB_uc002xiz.2_5'UTR NM_020336 NP_065069 Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit 67 activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity pancreas(1)|skin(1) 2 AATGGACCATGGAAGTAATTT 0.348 NA 18 46 0 0 0.00499 0 0 SLC32A1 140679 broad.mit.edu 37 20 37357156 37357156 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr20:37357156G>T uc002xjc.2 + 2 1715 c.1452G>T c.(1450-1452)AAG>AAT p.K484N NM_080552 NP_542119 Q9H598 VIAAT_HUMAN solute carrier family 32, member 1 484 Lumenal, vesicle (Potential). neurotransmitter secretion clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane vesicular hydrogen:amino acid antiporter activity 0 Myeloproliferative disorder(115;0.00878) Glycine(DB00145) TCTGGCGCAAGCTGCTGTGGC 0.652 NA 26 42 7.07758e-08 8.34821e-08 0.004656 1 0 PPP1R16B 26051 broad.mit.edu 37 20 37546891 37546891 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr20:37546891G>T uc002xje.2 + 11 1475 c.1286G>T c.(1285-1287)CGG>CTG p.R429L PPP1R16B_uc010ggc.2_Missense_Mutation_p.R387L NM_015568 NP_056383 Q96T49 PP16B_HUMAN protein phosphatase 1 regulatory inhibitor 429 regulation of filopodium assembly|signal transduction nucleus|plasma membrane protein phosphatase binding upper_aerodigestive_tract(1)|kidney(1)|skin(1) 3 Myeloproliferative disorder(115;0.00878) AATGGCCTCCGGGCTCCGGTC 0.597 NA 83 273 8.6486e-37 1.21214e-36 0.01441 1 0 EMILIN3 90187 broad.mit.edu 37 20 39990940 39990940 + Silent SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr20:39990940G>A uc002xjy.1 - 4 1493 c.1269C>T c.(1267-1269)CTC>CTT p.L423L NM_052846 NP_443078 Q9NT22 EMIL3_HUMAN elastin microfibril interfacer 3 423 proteinaceous extracellular matrix ovary(1) 1 Myeloproliferative disorder(115;0.00425) TGGCAGCAGAGAGCCTCGTAA 0.642 NA 22 121 0 0 0.014323 0 0 CHD6 84181 broad.mit.edu 37 20 40118549 40118549 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr20:40118549G>A uc002xka.1 - 12 1727 c.1549C>T c.(1549-1551)CCT>TCT p.P517S CHD6_uc002xkd.2_Missense_Mutation_p.P495S NM_032221 NP_115597 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 517 Helicase ATP-binding. chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding ovary(6)|skin(5)|lung(2)|central_nervous_system(1) 14 Myeloproliferative disorder(115;0.00425) GTGGAGAGAGGGGCGATAATG 0.507 NA 32 72 0 0 0.009535 0 0 SLPI 6590 broad.mit.edu 37 20 43881764 43881764 + Silent SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr20:43881764C>A uc002xnm.1 - 3 295 c.273G>T c.(271-273)GTG>GTT p.V91V NM_003064 NP_003055 P03973 SLPI_HUMAN secretory leukocyte peptidase inhibitor 91 Elastase inhibitory domain.|WAP 2. extracellular region serine-type endopeptidase inhibitor activity ovary(1) 1 Myeloproliferative disorder(115;0.0122) GGCCATAAGTCACTGGGCACT 0.517 GBM(64;162 1089 31780 33427 34538) NA 23 73 0.00395357 0.00410335 0.003954 1 0 PIGT 51604 broad.mit.edu 37 20 44054330 44054330 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr20:44054330C>G uc002xoh.1 + 12 1674 c.1601C>G c.(1600-1602)ACT>AGT p.T534S PIGT_uc002xoj.1_Missense_Mutation_p.T467S|PIGT_uc002xok.1_Missense_Mutation_p.T499S|PIGT_uc010zwu.1_Missense_Mutation_p.T272S|PIGT_uc002xoi.1_RNA|PIGT_uc010zwv.1_Missense_Mutation_p.T272S|PIGT_uc010zww.1_Missense_Mutation_p.T478S|PIGT_uc010zwx.1_Missense_Mutation_p.T369S|PIGT_uc010zwy.1_Missense_Mutation_p.T432S|PIGT_uc010zwz.1_Missense_Mutation_p.T272S|PIGT_uc010zxa.1_Missense_Mutation_p.T372S|PIGT_uc002xol.1_Missense_Mutation_p.T323S|PIGT_uc010zxb.1_Missense_Mutation_p.T210S|PIGT_uc002xom.1_Missense_Mutation_p.T126S NM_015937 NP_057021 Q969N2 PIGT_HUMAN phosphatidylinositol glycan anchor biosynthesis, 534 Helical; (Potential). attachment of GPI anchor to protein|C-terminal protein lipidation GPI-anchor transamidase complex protein binding pancreas(1) 1 Myeloproliferative disorder(115;0.0122) CTCACGTGCACTGTGGTGGCC 0.612 NA 8 62 0 0 0.00308 0 0 ELMO2 63916 broad.mit.edu 37 20 45002126 45002126 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr20:45002126C>A uc002xrt.1 - 16 1538 c.1328G>T c.(1327-1329)CGA>CTA p.R443L ELMO2_uc010zxq.1_Missense_Mutation_p.R175L|ELMO2_uc002xrs.1_Missense_Mutation_p.R190L|ELMO2_uc002xru.1_Missense_Mutation_p.R443L|ELMO2_uc010zxr.1_Missense_Mutation_p.R455L|ELMO2_uc010zxs.1_Missense_Mutation_p.R260L|ELMO2_uc002xrv.1_Missense_Mutation_p.R162L|ELMO2_uc002xrw.2_Missense_Mutation_p.R260L NM_133171 NP_573403 Q96JJ3 ELMO2_HUMAN engulfment and cell motility 2 443 ELMO. apoptosis|cell chemotaxis|phagocytosis cytoskeleton|cytosol|membrane lyase activity|receptor tyrosine kinase binding|SH3 domain binding ovary(1) 1 Myeloproliferative disorder(115;0.0122) TTCAAAGGCTCGGTCATGGGT 0.498 NA 18 56 5.3912e-06 6.04481e-06 0.006122 1 0 ZMYND8 23613 broad.mit.edu 37 20 45848953 45848953 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr20:45848953C>G uc002xta.1 - 21 3634 c.3380G>C c.(3379-3381)AGA>ACA p.R1127T ZMYND8_uc010ghq.1_Intron|ZMYND8_uc010ghr.1_Missense_Mutation_p.R1029T|ZMYND8_uc002xst.1_Missense_Mutation_p.R1009T|ZMYND8_uc002xsu.1_Missense_Mutation_p.R1000T|ZMYND8_uc002xsv.1_Missense_Mutation_p.R1055T|ZMYND8_uc002xsw.1_Missense_Mutation_p.R833T|ZMYND8_uc002xsx.1_Missense_Mutation_p.R833T|ZMYND8_uc002xsy.1_Missense_Mutation_p.R1056T|ZMYND8_uc002xsz.1_Missense_Mutation_p.R1018T|ZMYND8_uc010zxy.1_Missense_Mutation_p.R1154T|ZMYND8_uc002xtb.1_Missense_Mutation_p.R1101T|ZMYND8_uc002xss.2_Missense_Mutation_p.R1127T|ZMYND8_uc010zxz.1_Missense_Mutation_p.R995T|ZMYND8_uc002xtc.1_Missense_Mutation_p.R1101T|ZMYND8_uc002xtd.1_Missense_Mutation_p.R1076T|ZMYND8_uc002xte.1_Missense_Mutation_p.R1081T|ZMYND8_uc010zya.1_Missense_Mutation_p.R1127T|ZMYND8_uc002xtf.1_Missense_Mutation_p.R1147T|ZMYND8_uc002xsr.1_Missense_Mutation_p.R226T NM_012408 NP_036540 Q9ULU4 PKCB1_HUMAN zinc finger, MYND-type containing 8 isoform b 1127 protein binding|zinc ion binding central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1) 5 Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154) GGGCGTCTCTCTGGAGCCAGA 0.532 NA OREG0026003 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 2 7 0 0 0.004672 0 0 ZNFX1 57169 broad.mit.edu 37 20 47886918 47886918 + Silent SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr20:47886918G>C uc002xui.2 - 3 1678 c.1431C>G c.(1429-1431)CTC>CTG p.L477L NM_021035 NP_066363 Q9P2E3 ZNFX1_HUMAN zinc finger, NFX1-type containing 1 477 metal ion binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) TTCCTCGGCAGAGATCTTCCT 0.483 NA 16 93 0 0 0.004007 0 0 BCAS4 55653 broad.mit.edu 37 20 49458380 49458380 + Silent SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr20:49458380C>T uc002xvq.2 + 4 496 c.432C>T c.(430-432)GCC>GCT p.A144A BCAS4_uc002xvr.2_Silent_p.A144A|BCAS4_uc002xvs.2_Intron NM_017843 NP_060313 Q8TDM0 BCAS4_HUMAN breast carcinoma amplified sequence 4 isoform a 144 cytoplasm 0 ACCATGGGGCCTTCCCTCAGG 0.652 NA 20 41 0 0 0.010504 0 0 TSHZ2 128553 broad.mit.edu 37 20 51872150 51872150 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr20:51872150G>C uc002xwo.2 + 2 3109 c.2153G>C c.(2152-2154)TGC>TCC p.C718S NM_173485 NP_775756 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 718 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|haematopoietic_and_lymphoid_tissue(1) 6 STAD - Stomach adenocarcinoma(23;0.1) TCACCTTCCTGCTCCAGCCCA 0.582 NA 24 53 0 0 0.00333 0 0 CYP24A1 1591 broad.mit.edu 37 20 52774070 52774070 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr20:52774070C>T uc002xwv.2 - 10 1689 c.1291G>A c.(1291-1293)GAT>AAT p.D431N CYP24A1_uc002xwu.1_Missense_Mutation_p.D289N|CYP24A1_uc002xww.2_Intron NM_000782 NP_000773 Q07973 CP24A_HUMAN cytochrome P450 family 24 subfamily A 431 hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process mitochondrial inner membrane 1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen upper_aerodigestive_tract(1)|ovary(1)|lung(1) 3 Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05) STAD - Stomach adenocarcinoma(23;0.206) Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910) TGACTTGAATCTTCAAAATTG 0.393 NA 15 89 0 0 0.003163 0 0 PCK1 5105 broad.mit.edu 37 20 56138681 56138681 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr20:56138681G>T uc002xyn.3 + 6 1022 c.859G>T c.(859-861)GCC>TCC p.A287S PCK1_uc010zzm.1_Intron NM_002591 NP_002582 P35558 PCKGC_HUMAN cytosolic phosphoenolpyruvate carboxykinase 1 287 GTP. gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus cytosol|nucleus carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity skin(1) 1 Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07) ATTTCCCAGCGCCTGCGGGAA 0.542 NA 45 100 5.20006e-24 7.12983e-24 0.011902 1 0 PCK1 5105 broad.mit.edu 37 20 56140121 56140121 + Silent SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr20:56140121C>G uc002xyn.3 + 9 1507 c.1344C>G c.(1342-1344)CTC>CTG p.L448L PCK1_uc010zzm.1_Silent_p.L131L NM_002591 NP_002582 P35558 PCKGC_HUMAN cytosolic phosphoenolpyruvate carboxykinase 1 448 gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus cytosol|nucleus carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity skin(1) 1 Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07) ATGAAGCTCTCAGCTGGCAAC 0.463 NA 18 136 0 0 0.006122 0 0 TH1L 51497 broad.mit.edu 37 20 57569177 57569177 + Missense_Mutation SNP A A G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr20:57569177A>G uc002yag.2 + 14 1648 c.1621A>G c.(1621-1623)ATT>GTT p.I541V TH1L_uc002yaf.1_RNA|TH1L_uc002yah.2_Missense_Mutation_p.H511R NM_198976 NP_945327 Q8IXH7 NELFD_HUMAN TH1-like protein 541 negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm protein binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 all_lung(29;0.00711) Colorectal(105;0.109) GCTGGACGTCATTGCTCCTCC 0.557 NA 16 76 0 0 0.004007 0 0 ZNF831 128611 broad.mit.edu 37 20 57768421 57768421 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr20:57768421C>G uc002yan.2 + 1 2347 c.2347C>G c.(2347-2349)CCC>GCC p.P783A NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN zinc finger protein 831 783 intracellular nucleic acid binding|zinc ion binding skin(13)|ovary(1) 14 all_lung(29;0.0085) TTGGCCGGACCCCAAGCTGGA 0.657 NA 16 33 0 0 0.006122 0 0 ZNF831 128611 broad.mit.edu 37 20 57769224 57769224 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr20:57769224G>T uc002yan.2 + 1 3150 c.3150G>T c.(3148-3150)GAG>GAT p.E1050D NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN zinc finger protein 831 1050 intracellular nucleic acid binding|zinc ion binding skin(13)|ovary(1) 14 all_lung(29;0.0085) CTCCCAGGGAGGCTACCTCCT 0.632 NA 18 31 1.99824e-07 2.3286e-07 0.00499 1 0 LAMA5 3911 broad.mit.edu 37 20 60890259 60890259 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr20:60890259C>A uc002ycq.2 - 59 7939 c.7872G>T c.(7870-7872)GAG>GAT p.E2624D NM_005560 NP_005551 O15230 LAMA5_HUMAN laminin alpha 5 precursor 2624 Potential.|Domain II and I. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding ovary(1)|pancreas(1)|skin(1) 3 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TCTTGCTTGTCTCGTCTGTGG 0.622 NA 12 33 4.36969e-10 5.34523e-10 0.001855 1 0 NTSR1 4923 broad.mit.edu 37 20 61386117 61386117 + Silent SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr20:61386117C>T uc002ydf.2 + 2 1166 c.795C>T c.(793-795)GTC>GTT p.V265V NM_002531 NP_002522 P30989 NTR1_HUMAN neurotensin receptor 1 265 Cytoplasmic (Potential). endoplasmic reticulum|Golgi apparatus|integral to plasma membrane neurotensin receptor activity, G-protein coupled skin(2)|lung(1)|central_nervous_system(1) 4 Breast(26;3.65e-08) BRCA - Breast invasive adenocarcinoma(19;3.63e-06) AGCTGACCGTCATGGTACGCC 0.617 GBM(37;400 780 6403 19663 35669) NA 10 103 0 0 0.006214 0 0 COL9A3 1299 broad.mit.edu 37 20 61461738 61461738 + Silent SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr20:61461738C>T uc002ydm.2 + 23 1191 c.1188C>T c.(1186-1188)CCC>CCT p.P396P NM_001853 NP_001844 Q14050 CO9A3_HUMAN alpha 3 type IX collagen precursor 396 Triple-helical region 3 (COL3). axon guidance collagen type IX 0 Breast(26;5.68e-08) AAGGCCCTCCCGGAGCCCCTG 0.692 NA 3 5 0 0 0.009096 0 0 CHRNA4 1137 broad.mit.edu 37 20 61981575 61981575 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr20:61981575G>C uc002yes.2 - 5 1366 c.1188C>G c.(1186-1188)AGC>AGG p.S396R CHRNA4_uc002yet.1_Missense_Mutation_p.S220R|CHRNA4_uc011aaw.1_RNA|CHRNA4_uc010gke.1_Missense_Mutation_p.S325R|CHRNA4_uc002yev.1_Missense_Mutation_p.S220R|CHRNA4_uc010gkf.1_Missense_Mutation_p.S220R NM_000744 NP_000735 P43681 ACHA4_HUMAN cholinergic receptor, nicotinic, alpha 4 subunit 396 Cytoplasmic (Potential). B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity central_nervous_system(1)|skin(1) 2 all_cancers(38;1.71e-10) Nicotine(DB00184)|Varenicline(DB01273) TCTGGGTGCCGCTCGTGGCAG 0.672 NA 5 20 0 0 0.00308 0 0 TCEA2 6919 broad.mit.edu 37 20 62701953 62701953 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr20:62701953G>T uc011abs.1 + 8 1440 c.784G>T c.(784-786)GGC>TGC p.G262C TCEA2_uc011abr.1_Missense_Mutation_p.G235C|TCEA2_uc010gks.2_Missense_Mutation_p.G263C NM_003195 NP_003186 Q15560 TCEA2_HUMAN transcription elongation factor A protein 2 262 TFIIS-type. regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent transcription elongation factor complex DNA binding|protein binding|translation elongation factor activity|zinc ion binding 0 all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09) GTTCACCTGCGGCAAGTGCAG 0.632 NA 11 18 9.70103e-10 1.18468e-09 0.008291 1 0 LIPI 149998 broad.mit.edu 37 21 15558333 15558333 + Missense_Mutation SNP T T C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr21:15558333T>C uc002yjm.2 - 3 563 c.553A>G c.(553-555)ATC>GTC p.I185V LIPI_uc010gkw.1_Missense_Mutation_p.I118V NM_198996 NP_945347 Q6XZB0 LIPI_HUMAN lipase, member I 164 lipid catabolic process extracellular region|extracellular space|membrane|plasma membrane heparin binding|phospholipase activity ovary(2) 2 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166) AATCCACTGATATGAGCCCCT 0.313 NA 92 56 0 0 0.01441 0 0 JAM2 58494 broad.mit.edu 37 21 27086965 27086965 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr21:27086965C>A uc002ylp.1 + 10 1423 c.878C>A c.(877-879)ACA>AAA p.T293K JAM2_uc002ylq.1_RNA|JAM2_uc011acf.1_Missense_Mutation_p.T257K|JAM2_uc010glh.1_RNA|JAM2_uc002ylr.1_Missense_Mutation_p.T289K|JAM2_uc010gli.1_Missense_Mutation_p.Q275K NM_021219 NP_067042 P57087 JAM2_HUMAN junctional adhesion molecule 2 precursor 293 Cytoplasmic (Potential). DFKHTKSFII -> VQWLTPVIPALWKAAAGGSRGQEF (in Ref. 4; AAQ88727). blood coagulation|cell-cell adhesion|leukocyte migration integral to plasma membrane|tight junction 0 TTCAAGCACACAAAATCCTTT 0.274 NA 10 19 0.000442599 0.000469777 0.006214 1 0 ADAMTS1 9510 broad.mit.edu 37 21 28216601 28216601 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr21:28216601C>G uc002ymf.2 - 1 1128 c.673G>C c.(673-675)GAA>CAA p.E225Q NM_006988 NP_008919 Q9UHI8 ATS1_HUMAN ADAM metallopeptidase with thrombospondin type 1 225 integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis heparin binding|zinc ion binding lung(3)|large_intestine(2)|central_nervous_system(1) 6 Breast(209;0.000962) Lung(58;0.215) TGAGCCCCTTCGTCCTCGCCC 0.652 NA OREG0026151 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 13 0 0 0.004672 0 0 RNF160 26046 broad.mit.edu 37 21 30304987 30304987 + Splice_Site SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr21:30304987C>A uc002ymr.2 - 28 5027 c.5014_splice c.e28-1 p.V1672_splice NM_015565 NP_056380 O94822 LTN1_HUMAN zinc finger protein 294 ligase activity|zinc ion binding 0 GAGCTTTAACCTGCAATACAA 0.343 NA 10 61 2.17888e-05 2.40588e-05 0.006214 1 0 CLDN17 26285 broad.mit.edu 37 21 31538717 31538717 + Silent SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr21:31538717G>A uc011acv.1 - 1 219 c.219C>T c.(217-219)CTC>CTT p.L73L NM_012131 NP_036263 P56750 CLD17_HUMAN claudin 17 73 Extracellular (Potential). calcium-independent cell-cell adhesion|tight junction assembly Golgi apparatus|integral to membrane|tight junction identical protein binding|structural molecule activity ovary(2) 2 GGGCAGGCGGGAGAGCCAACA 0.552 NA 14 59 0 0 0.00245 0 0 KRTAP13-2 337959 broad.mit.edu 37 21 31744334 31744334 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr21:31744334G>C uc002ynz.3 - 1 224 c.198C>G c.(196-198)TGC>TGG p.C66W NM_181621 NP_853652 Q52LG2 KR132_HUMAN keratin associated protein 13-2 66 3.|5 X 10 AA approximate repeats. intermediate filament 0 AGGACGTCTGGCAGCTGGTGG 0.602 NA 13 42 0 0 0.001855 0 0 KRTAP15-1 254950 broad.mit.edu 37 21 31813004 31813004 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr21:31813004G>A uc002yod.2 + 1 359 c.359G>A c.(358-360)AGC>AAC p.S120N NM_181623 NP_853654 Q3LI76 KR151_HUMAN keratin associated protein 15-1 120 intermediate filament 0 TGTGGGTCCAGCTTCTACCAC 0.473 NA 18 62 0 0 0.006122 0 0 GCFC1 94104 broad.mit.edu 37 21 34117954 34117954 + Nonsense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr21:34117954C>A uc002yqn.2 - 12 2189 c.1999G>T c.(1999-2001)GAA>TAA p.E667* GCFC1_uc002yql.2_Nonsense_Mutation_p.E176*|GCFC1_uc002yqm.2_Nonsense_Mutation_p.E161*|GCFC1_uc002yqo.2_RNA|GCFC1_uc002yqp.2_Nonsense_Mutation_p.E667* NM_016631 NP_057715 Q9Y5B6 GCFC1_HUMAN GC-rich sequence DNA-binding factor candidate 667 cytosol|nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 TCATCTTTTTCTTGCTCTCGT 0.378 NA 8 35 0.00307968 0.00319864 0.00308 1 0 RUNX1 861 broad.mit.edu 37 21 36231792 36231792 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr21:36231792C>T uc002yuh.2 - 3 2089 c.511G>A c.(511-513)GAT>AAT p.D171N RUNX1_uc002yui.2_Missense_Mutation_p.D171N|RUNX1_uc010gmu.2_Missense_Mutation_p.D198N|RUNX1_uc010gmv.2_Missense_Mutation_p.D198N|RUNX1_uc002yuj.3_Missense_Mutation_p.D66N|RUNX1_uc002yuk.3_Missense_Mutation_p.D198N|RUNX1_uc002yum.1_Missense_Mutation_p.D66N|RUNX1_uc010gmw.1_Missense_Mutation_p.D198N|RUNX1_uc002yuo.1_Missense_Mutation_p.D171N|RUNX1_uc002yur.1_Missense_Mutation_p.D66N|uc002yus.1_RNA NM_001001890 NP_001001890 Q01196 RUNX1_HUMAN runt-related transcription factor 1 isoform 171 Interaction with DNA.|Runt. D->A: Strongly reduces DNA-binding.|Missing: No DNA-binding. myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent nucleus|nucleus ATP binding|calcium ion binding|DNA binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding p.D198N(9)|p.G170_K171insRRG(1)|p.K171N(1) haematopoietic_and_lymphoid_tissue(383)|lung(2)|ovary(1)|central_nervous_system(1) 387 CGGGGCCCATCCACTGTGATT 0.557 NA T RPL22|MDS1|EVI1|CBFA2T3|CBFA2T1|ETV6|LAF4 AML|preB- ALL|T-ALL Platelet_disorder_associated_with_Myeloid_Malignancies 16 63 0 0 0.007413 0 0 KCNJ6 3763 broad.mit.edu 37 21 39086866 39086866 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr21:39086866C>A uc011aej.1 - 3 647 c.594G>T c.(592-594)AAG>AAT p.K198N KCNJ6_uc002ywo.2_Missense_Mutation_p.K198N NM_002240 NP_002231 P48051 IRK6_HUMAN potassium inwardly-rectifying channel J6 198 Cytoplasmic (By similarity). synaptic transmission Golgi apparatus|voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding skin(1) 1 Halothane(DB01159) TCTCTGCCCTCTTCTTGGGTT 0.483 Pancreas(48;379 1118 2936 19024 28214) NA 18 50 5.03518e-11 6.27023e-11 0.007413 1 0 UMODL1 89766 broad.mit.edu 37 21 43508578 43508578 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr21:43508578G>C uc002zaf.1 + 5 778 c.778G>C c.(778-780)GTC>CTC p.V260L UMODL1_uc002zad.1_Missense_Mutation_p.V188L|UMODL1_uc002zae.1_Missense_Mutation_p.V188L|UMODL1_uc002zag.1_Missense_Mutation_p.V260L|UMODL1_uc010gow.1_Missense_Mutation_p.V52L|UMODL1_uc002zai.1_5'UTR|UMODL1_uc010gox.1_RNA|UMODL1_uc010goy.1_Intron|UMODL1_uc002zaj.1_RNA|UMODL1_uc010goz.1_Missense_Mutation_p.V52L NM_001004416 NP_001004416 Q5DID0 UROL1_HUMAN uromodulin-like 1 isoform 1 precursor 260 Extracellular (Potential). cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity ovary(2)|skin(1) 3 AGTGATCAGCGTCCAGGTGCA 0.607 Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435) NA 3 7 0 0 0.004672 0 0 ABCG1 9619 broad.mit.edu 37 21 43621828 43621828 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr21:43621828C>G uc002zan.2 + 2 303 c.43C>G c.(43-45)CCT>GCT p.P15A ABCG1_uc002zam.2_5'UTR NM_207627 NP_997510 P45844 ABCG1_HUMAN ATP-binding cassette sub-family G member 1 Error:Variant_position_missing_in_P45844_after_alignment amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity ovary(2)|central_nervous_system(1) 3 Adenosine triphosphate(DB00171) aaagccctgccctcaGGTGTG 0.289 NA 9 12 0 0 0.004482 0 0 KRTAP10-8 386681 broad.mit.edu 37 21 46032130 46032130 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr21:46032130G>T uc002zfo.1 + 1 135 c.113G>T c.(112-114)GGC>GTC p.G38V C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198695 NP_941968 P60410 KR108_HUMAN keratin associated protein 10-8 38 19 X 5 AA repeats of C-C-X(3). keratin filament large_intestine(1)|breast(1) 2 ACCTGCACTGGCTCCTCCTGG 0.637 NA 26 56 7.92952e-12 1.00032e-11 0.003954 1 0 KRTAP10-11 386678 broad.mit.edu 37 21 46066935 46066935 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr21:46066935C>A uc002zfr.3 + 1 605 c.560C>A c.(559-561)GCC>GAC p.A187D C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198692 NP_941965 P60412 KR10B_HUMAN keratin associated protein 10-11 187 25 X 5 AA repeats of C-C-X(3). keratin filament ovary(1) 1 TACCAGCAGGCCTGCTGCGTG 0.602 NA 63 136 4.45325e-31 6.21743e-31 0.01441 1 0 CLTCL1 8218 broad.mit.edu 37 22 19175510 19175510 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr22:19175510C>G uc002zpb.2 - 29 4492 c.4417G>C c.(4417-4419)GAG>CAG p.E1473Q CLTCL1_uc011agv.1_Missense_Mutation_p.E1473Q|CLTCL1_uc011agw.1_Missense_Mutation_p.E1452Q|CLTCL1_uc011agt.1_Missense_Mutation_p.E264Q|CLTCL1_uc011agu.1_Intron NM_007098 NP_009029 P53675 CLH2_HUMAN clathrin, heavy polypeptide-like 1 isoform 1 1473 Involved in binding clathrin light chain (By similarity).|Proximal segment.|Heavy chain arm. anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network protein binding|signal transducer activity|structural molecule activity ovary(4)|central_nervous_system(1) 5 Colorectal(54;0.0993) TCCTCCTCCTCTGTCAGCAGG 0.592 NA T ? ALCL 24 148 0 0 0.00333 0 0 Unknown 0 broad.mit.edu 37 22 20721917 20721917 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr22:20721917C>G uc011ahp.1 - 4 397 c.98G>C c.(97-99)TGC>TCC p.C33S uc011ahq.1_Missense_Mutation_p.C141S SubName: Full=cDNA FLJ59031, highly similar to Ubl carboxyl-terminal hydrolase 18 (EC 3.1.2.-); NA CTGGAAGAAGCAGTGCAGGGC 0.433 NA 2 8 0 0 0.004672 0 0 PPM1F 9647 broad.mit.edu 37 22 22280013 22280013 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr22:22280013G>A uc002zvp.1 - 7 1028 c.914C>T c.(913-915)GCA>GTA p.A305V PPM1F_uc011aik.1_Missense_Mutation_p.A201V|PPM1F_uc002zvq.2_Missense_Mutation_p.A305V NM_014634 NP_055449 P49593 PPM1F_HUMAN protein phosphatase 1F 305 apoptosis|protein dephosphorylation protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity ovary(2)|large_intestine(1)|breast(1)|kidney(1) 5 Colorectal(54;0.105) READ - Rectum adenocarcinoma(21;0.155) GCCACCCAATGCTTCAATGCG 0.627 NA 5 49 0 0 0.000602 0 0 VPREB1 7441 broad.mit.edu 37 22 22599589 22599589 + Missense_Mutation SNP T T G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr22:22599589T>G uc002zvx.1 + 2 304 c.278T>G c.(277-279)GTG>GGG p.V93G LOC96610_uc011aim.1_Intron NM_007128 NP_009059 P12018 VPREB_HUMAN immunoglobulin iota chain precursor 93 Ig-like V-type.|Framework-3. immune response extracellular region antigen binding|protein binding 0 all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155) all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52) READ - Rectum adenocarcinoma(21;0.145) TCCAAAGATGTGGCCAGGAAC 0.552 NA 36 68 0 0 0.003271 0 0 VPREB1 7441 broad.mit.edu 37 22 22599591 22599591 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr22:22599591G>C uc002zvx.1 + 2 306 c.280G>C c.(280-282)GCC>CCC p.A94P LOC96610_uc011aim.1_Intron NM_007128 NP_009059 P12018 VPREB_HUMAN immunoglobulin iota chain precursor 94 Ig-like V-type.|Framework-3. immune response extracellular region antigen binding|protein binding 0 all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155) all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52) READ - Rectum adenocarcinoma(21;0.145) CAAAGATGTGGCCAGGAACAG 0.547 NA 35 64 0 0 0.013726 0 0 ZNF280B 140883 broad.mit.edu 37 22 22842568 22842568 + Nonsense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr22:22842568G>A uc002zwc.1 - 4 1932 c.1156C>T c.(1156-1158)CAG>TAG p.Q386* LOC96610_uc011aim.1_Intron NM_080764 NP_542942 Q86YH2 Z280B_HUMAN zinc finger protein 280B 386 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22) READ - Rectum adenocarcinoma(21;0.145) AAGAGGACCTGATCTGTTTCA 0.468 NA 16 88 0 0 0.004007 0 0 ZNF280B 140883 broad.mit.edu 37 22 22843099 22843099 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr22:22843099G>C uc002zwc.1 - 4 1401 c.625C>G c.(625-627)CAT>GAT p.H209D LOC96610_uc011aim.1_Intron NM_080764 NP_542942 Q86YH2 Z280B_HUMAN zinc finger protein 280B 209 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22) READ - Rectum adenocarcinoma(21;0.145) TTCATTGTATGAAAGGTATCT 0.393 NA 20 83 0 0 0.010504 0 0 PRAME 23532 broad.mit.edu 37 22 22892257 22892257 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr22:22892257C>G uc002zwf.2 - 4 1000 c.844G>C c.(844-846)GAG>CAG p.E282Q LOC96610_uc011aim.1_Intron|PRAME_uc011air.1_Missense_Mutation_p.E266Q|PRAME_uc010gtr.2_Missense_Mutation_p.E282Q|PRAME_uc002zwg.2_Missense_Mutation_p.E282Q|PRAME_uc002zwh.2_Missense_Mutation_p.E282Q|PRAME_uc002zwi.2_Missense_Mutation_p.E282Q|PRAME_uc002zwj.2_Missense_Mutation_p.E282Q|PRAME_uc002zwk.2_Missense_Mutation_p.E282Q NM_206956 NP_996839 P78395 PRAME_HUMAN preferentially expressed antigen in melanoma 282 apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent nucleus|plasma membrane retinoic acid receptor binding central_nervous_system(2) 2 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05) READ - Rectum adenocarcinoma(21;0.0649) ATATACTGCTCTTCCTTCTCC 0.502 Melanoma(73;1707 1838 15168 27201) NA 9 50 0 0 0.006214 0 0 SUSD2 56241 broad.mit.edu 37 22 24580910 24580910 + Splice_Site SNP T T G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr22:24580910T>G uc002zzn.1 + 5 826 c.782_splice c.e5+2 p.K261_splice NM_019601 NP_062547 Q9UGT4 SUSD2_HUMAN sushi domain containing 2 precursor immune response integral to membrane polysaccharide binding|protein binding|scavenger receptor activity skin(1) 1 AGGGCAGAAGTAAGAAGGCAT 0.607 NA 11 29 0 0 0.013537 0 0 MYO18B 84700 broad.mit.edu 37 22 26242238 26242238 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr22:26242238C>G uc003abz.1 + 19 3790 c.3540C>G c.(3538-3540)ATC>ATG p.I1180M MYO18B_uc003aca.1_Missense_Mutation_p.I1061M|MYO18B_uc010guy.1_Missense_Mutation_p.I1062M|MYO18B_uc010guz.1_Missense_Mutation_p.I1061M|MYO18B_uc011aka.1_Missense_Mutation_p.I334M|MYO18B_uc011akb.1_Missense_Mutation_p.I693M NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN myosin XVIIIB 1180 Myosin head-like. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2) 12 GCTCCCAGATCAAGCTGCAGA 0.542 NA 23 30 0 0 0.014323 0 0 GAL3ST1 9514 broad.mit.edu 37 22 30951246 30951246 + Silent SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr22:30951246G>A uc003aig.1 - 4 1106 c.966C>T c.(964-966)TTC>TTT p.F322F GAL3ST1_uc003aih.1_Silent_p.F322F|GAL3ST1_uc003aii.1_Silent_p.F322F|GAL3ST1_uc010gvz.1_Silent_p.F322F NM_004861 NP_004852 Q99999 G3ST1_HUMAN galactose-3-O-sulfotransferase 1 322 Lumenal (Potential). protein N-linked glycosylation Golgi membrane|integral to plasma membrane|membrane fraction galactosylceramide sulfotransferase activity 0 GCTCCCGCCCGAAGGCCTCCA 0.711 NA 4 22 0 0 0.000602 0 0 PATZ1 23598 broad.mit.edu 37 22 31722972 31722972 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr22:31722972C>G uc003akq.2 - 5 2630 c.1969G>C c.(1969-1971)GAG>CAG p.E657Q PATZ1_uc003akp.2_3'UTR|PATZ1_uc003akr.2_Missense_Mutation_p.E611Q NM_014323 NP_055138 Q9HBE1 PATZ1_HUMAN POZ (BTB) and AT hook containing zinc finger 1 657 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding EWSR1/PATZ1(2) soft_tissue(2) 2 CCAAAGGACTCGAGGAGAGAC 0.582 NA 9 92 0 0 0.006214 0 0 EIF4ENIF1 56478 broad.mit.edu 37 22 31850252 31850252 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr22:31850252C>T uc003akz.1 - 10 1554 c.1390G>A c.(1390-1392)GAG>AAG p.E464K EIF4ENIF1_uc003akx.1_Missense_Mutation_p.E143K|EIF4ENIF1_uc003aky.1_Missense_Mutation_p.E143K|EIF4ENIF1_uc003ala.1_Missense_Mutation_p.E464K|EIF4ENIF1_uc003alb.1_Missense_Mutation_p.E301K NM_019843 NP_062817 Q9NRA8 4ET_HUMAN eukaryotic translation initiation factor 4E 464 nucleus protein binding|protein transporter activity ovary(1) 1 CTCAAGGTCTCTTCTAGGTGT 0.483 NA 13 70 0 0 0.013537 0 0 DEPDC5 9681 broad.mit.edu 37 22 32217561 32217561 + Silent SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr22:32217561G>A uc003als.2 + 23 2086 c.1944G>A c.(1942-1944)CAG>CAA p.Q648Q DEPDC5_uc011als.1_Intron|DEPDC5_uc011alu.1_Silent_p.Q648Q|DEPDC5_uc011alv.1_Intron|DEPDC5_uc003alt.2_Silent_p.Q648Q|DEPDC5_uc003alu.2_Silent_p.Q88Q|DEPDC5_uc003alv.2_Intron|DEPDC5_uc011alw.1_5'Flank|DEPDC5_uc011alt.1_Intron NM_014662 NP_055477 O75140 DEPD5_HUMAN DEP domain containing 5 isoform 1 648 intracellular signal transduction ovary(4)|central_nervous_system(3)|pancreas(1) 8 GCAGCGGGCAGAGGGATCCAA 0.552 NA 64 121 0 0 0.01441 0 0 LARGE 9215 broad.mit.edu 37 22 33673054 33673054 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr22:33673054C>G uc003and.3 - 15 2644 c.2065G>C c.(2065-2067)GAT>CAT p.D689H LARGE_uc011amd.1_Missense_Mutation_p.D488H|LARGE_uc003ane.3_Missense_Mutation_p.D689H|LARGE_uc010gwp.2_Missense_Mutation_p.D637H|LARGE_uc011ame.1_Missense_Mutation_p.D621H|LARGE_uc011amf.1_Missense_Mutation_p.D640H NM_004737 NP_004728 O95461 LARGE_HUMAN like-glycosyltransferase 689 Lumenal (Potential). glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation integral to Golgi membrane acetylglucosaminyltransferase activity ovary(1)|central_nervous_system(1)|skin(1) 3 Lung NSC(1;0.219) ACCTGCACATCCAGCTCCATG 0.532 Colon(70;397 1175 4573 19089 45288) NA 11 48 0 0 0.008291 0 0 MCM5 4174 broad.mit.edu 37 22 35804479 35804479 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr22:35804479G>T uc003anu.3 + 6 769 c.675G>T c.(673-675)CAG>CAT p.Q225H MCM5_uc010gwr.2_Missense_Mutation_p.Q34H|MCM5_uc003anv.3_Missense_Mutation_p.Q182H|MCM5_uc010gws.1_RNA|MCM5_uc003anw.1_5'Flank NM_006739 NP_006730 P33992 MCM5_HUMAN minichromosome maintenance complex component 5 225 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|DNA binding|helicase activity|protein binding ovary(1) 1 TGGACTTCCAGACCCTGAAGC 0.582 NA 20 50 0.000958276 0.00101047 0.007413 1 0 CACNG2 10369 broad.mit.edu 37 22 37098576 37098576 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr22:37098576C>T uc003aps.1 - 1 328 c.46G>A c.(46-48)GGT>AGT p.G16S uc003apt.1_5'Flank NM_006078 NP_006069 Q9Y698 CCG2_HUMAN voltage-dependent calcium channel gamma-2 16 Helical; (Potential). membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity 0 GCGAAAGCACCAACGGTGGTT 0.473 NA 43 87 0 0 0.00874 0 0 SSTR3 6753 broad.mit.edu 37 22 37603250 37603250 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr22:37603250G>T uc003ara.2 - 2 655 c.593C>A c.(592-594)CCG>CAG p.P198Q SSTR3_uc003arb.2_Missense_Mutation_p.P198Q NM_001051 NP_001042 P32745 SSR3_HUMAN somatostatin receptor 3 198 Extracellular (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation integral to plasma membrane|nonmotile primary cilium somatostatin receptor activity lung(1) 1 GGCCGCCGCCGGCTCGGGCCA 0.692 NA 33 24 2.09667e-21 2.83989e-21 0.003755 1 0 SH3BP1 23616 broad.mit.edu 37 22 38051611 38051611 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr22:38051611G>A uc003ati.2 + 18 2137 c.2026G>A c.(2026-2028)GAG>AAG p.E676K SH3BP1_uc003atg.1_Intron|SH3BP1_uc003ath.1_Intron|SH3BP1_uc003atj.1_Intron|SH3BP1_uc003atk.1_Intron|uc003atl.1_Intron NM_018957 NP_061830 Q9Y3L3 3BP1_HUMAN SH3-domain binding protein 1 676 signal transduction cytoplasm GTPase activator activity|SH3 domain binding central_nervous_system(1) 1 Melanoma(58;0.0574) AGGAGCCCCTGAGGCTATCAG 0.667 NA 11 6 0 0 0.008291 0 0 KCNJ4 3761 broad.mit.edu 37 22 38823619 38823619 + Silent SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr22:38823619G>T uc003avs.1 - 2 616 c.519C>A c.(517-519)GCC>GCA p.A173A KCNJ4_uc003avt.1_Silent_p.A173A NM_004981 NP_004972 P48050 IRK4_HUMAN potassium inwardly-rectifying channel J4 173 Cytoplasmic (By similarity). synaptic transmission basolateral plasma membrane|voltage-gated potassium channel complex inward rectifier potassium channel activity|PDZ domain binding 0 Melanoma(58;0.0286) GCGCCATCTTGGCCATGATGG 0.637 NA 4 93 0.00024832 0.000265313 0.009096 1 0 DDX17 10521 broad.mit.edu 37 22 38891885 38891885 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr22:38891885C>A uc003avy.3 - 6 899 c.796G>T c.(796-798)GAC>TAC p.D266Y DDX17_uc003avx.3_Missense_Mutation_p.D266Y|DDX17_uc011anu.1_Missense_Mutation_p.D179Y NM_001098504 NP_001091974 Q92841 DDX17_HUMAN DEAD box polypeptide 17 isoform 3 187 Helicase ATP-binding. RNA processing nucleus ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity skin(3)|upper_aerodigestive_tract(1) 4 Melanoma(58;0.0286) TTGCCATAGTCATCGGCCACC 0.438 Ovarian(55;1085 1454 6392 21425) NA 18 106 5.03518e-11 6.27023e-11 0.007413 1 0 GTPBP1 9567 broad.mit.edu 37 22 39112972 39112972 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr22:39112972G>C uc003awg.2 + 4 955 c.801G>C c.(799-801)ATG>ATC p.M267I NM_004286 NP_004277 O00178 GTPB1_HUMAN GTP binding protein 1 267 immune response|positive regulation of mRNA catabolic process|signal transduction cytoplasmic exosome (RNase complex)|cytosol GTP binding|GTPase activity ovary(1) 1 Melanoma(58;0.04) TCTTCGGCATGACAGGCCATC 0.552 NA 10 90 0 0 0.006214 0 0 MGAT3 4248 broad.mit.edu 37 22 39884738 39884738 + Silent SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr22:39884738G>T uc003axv.3 + 2 1625 c.1386G>T c.(1384-1386)GGG>GGT p.G462G MGAT3_uc010gxy.2_Silent_p.G462G NM_002409 NP_002400 Q09327 MGAT3_HUMAN mannosyl (beta-1,4-)-glycoprotein 462 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity 0 Melanoma(58;0.04) TCCGCACCGGGGGCTGGTTCG 0.627 NA 30 26 8.58068e-18 1.14409e-17 0.007291 1 0 ENTHD1 150350 broad.mit.edu 37 22 40140274 40140274 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr22:40140274C>T uc003ayg.2 - 7 1485 c.1234G>A c.(1234-1236)GAG>AAG p.E412K NM_152512 NP_689725 Q8IYW4 ENTD1_HUMAN ENTH domain containing 1 412 ovary(2)|skin(1) 3 Melanoma(58;0.0749) GATGCTCCCTCAGAAGCAGTT 0.363 NA 3 13 0 0 0.004672 0 0 TNFRSF13C 115650 broad.mit.edu 37 22 42321443 42321443 + Silent SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr22:42321443G>A uc003bbl.2 - 3 527 c.483C>T c.(481-483)GTC>GTT p.V161V WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|TNFRSF13C_uc010gyp.1_Silent_p.V162V NM_052945 NP_443177 Q96RJ3 TR13C_HUMAN BAFF receptor 161 Cytoplasmic (Potential). integral to membrane receptor activity 0 CTGGCACAGGGACACTGTGGC 0.637 NA 10 58 0 0 0.010729 0 0 SLC6A11 6538 broad.mit.edu 37 3 10967706 10967706 + Silent SNP T T C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr3:10967706T>C uc003bvz.2 + 9 1171 c.1137T>C c.(1135-1137)TTT>TTC p.F379F NM_014229 NP_055044 P48066 S6A11_HUMAN solute carrier family 6 (neurotransmitter 379 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity skin(3)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(96;0.229) GCCTGGCCTTTATTGCGTACC 0.517 NA 87 291 0 0 0.01441 0 0 TSEN2 80746 broad.mit.edu 37 3 12558159 12558159 + Missense_Mutation SNP A A T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr3:12558159A>T uc003bxc.2 + 7 1346 c.959A>T c.(958-960)AAG>ATG p.K320M TSEN2_uc003bwy.2_Missense_Mutation_p.K320M|TSEN2_uc003bwz.2_Missense_Mutation_p.K261M|TSEN2_uc003bxa.2_Missense_Mutation_p.K294M|TSEN2_uc011auq.1_Missense_Mutation_p.K294M|TSEN2_uc003bxb.2_Missense_Mutation_p.K320M|TSEN2_uc011aur.1_Missense_Mutation_p.K229M NM_025265 NP_079541 Q8NCE0 SEN2_HUMAN tRNA-intron nuclease 2 isoform 1 320 mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation cytoplasm|nucleolus|tRNA-intron endonuclease complex nucleic acid binding|tRNA-intron endonuclease activity central_nervous_system(1) 1 TACTATGAGAAGGTAAGATGC 0.318 NA 5 31 0 0 0.001984 0 0 COLQ 8292 broad.mit.edu 37 3 15495391 15495391 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr3:15495391C>T uc003bzx.2 - 16 1369 c.1243G>A c.(1243-1245)GAG>AAG p.E415K COLQ_uc003bzv.2_Missense_Mutation_p.E405K|COLQ_uc003bzz.2_Missense_Mutation_p.E406K|COLQ_uc010heo.2_Missense_Mutation_p.E381K|COLQ_uc003cac.1_RNA|COLQ_uc003cae.1_Missense_Mutation_p.E274K|COLQ_uc003cad.1_RNA NM_005677 NP_005668 Q9Y215 COLQ_HUMAN acetylcholinesterase collagen-like tail subunit 415 acetylcholine catabolic process in synaptic cleft|asymmetric protein localization basal lamina|cell junction|collagen|extracellular space|synaptic cleft 0 TCACAGTCCTCCACACCCTCA 0.483 NA 6 18 0 0 0.001984 0 0 PLCL2 23228 broad.mit.edu 37 3 17053070 17053070 + Silent SNP A A T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr3:17053070A>T uc011awc.1 + 5 2313 c.2208A>T c.(2206-2208)ACA>ACT p.T736T PLCL2_uc011awd.1_Silent_p.T618T NM_001144382 NP_001137854 Q9UPR0 PLCL2_HUMAN phospholipase C-like 2 isoform 1 744 C2. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity skin(2)|ovary(1)|lung(1) 4 GCGCCAATACAAAAGACTCTG 0.507 NA 5 25 0 0 0.000602 0 0 ZNF860 344787 broad.mit.edu 37 3 32031984 32031984 + Silent SNP T T A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr3:32031984T>A uc011axg.1 + 2 1962 c.1413T>A c.(1411-1413)ATT>ATA p.I471I NM_001137674 NP_001131146 A6NHJ4 ZN860_HUMAN zinc finger protein 860 471 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 CCCTTGTAATTCATAAGGCAA 0.408 NA 6 24 0 0 0.001984 0 0 ARPP21 10777 broad.mit.edu 37 3 35778819 35778819 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr3:35778819C>A uc003cgb.2 + 16 1873 c.1609C>A c.(1609-1611)CCG>ACG p.P537T ARPP21_uc003cga.2_Missense_Mutation_p.P483T|ARPP21_uc011axy.1_Missense_Mutation_p.P503T|ARPP21_uc003cgf.2_Missense_Mutation_p.P338T|ARPP21_uc003cgg.2_Missense_Mutation_p.P25T NM_016300 NP_057384 Q9UBL0 ARP21_HUMAN cyclic AMP-regulated phosphoprotein, 21 kD 537 Gln-rich. cytoplasm nucleic acid binding ovary(2)|skin(1) 3 GGTCCAGCCACCGCAGCCACA 0.642 NA 10 37 3.86212e-05 4.21639e-05 0.008291 1 0 SCN10A 6336 broad.mit.edu 37 3 38770045 38770045 + Silent SNP T T C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr3:38770045T>C uc003ciq.2 - 15 2628 c.2628A>G c.(2626-2628)CTA>CTG p.L876L NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha 876 II.|Helical; Name=S6 of repeat II; (Potential). sensory perception voltage-gated sodium channel complex ovary(5)|skin(3)|large_intestine(1)|kidney(1) 10 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) CCAGGTTCCCTAGCACCATCA 0.502 NA 6 38 0 0 0.001984 0 0 TTC21A 199223 broad.mit.edu 37 3 39161449 39161449 + Nonsense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr3:39161449G>T uc003cjc.2 + 8 1039 c.862G>T c.(862-864)GAG>TAG p.E288* TTC21A_uc003cje.2_Nonsense_Mutation_p.E288*|TTC21A_uc003cjd.2_RNA|TTC21A_uc011ayx.1_Nonsense_Mutation_p.E239* NM_145755 NP_665698 Q8NDW8 TT21A_HUMAN tetratricopeptide repeat domain 21A isoform 2 288 binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) TAAGGCACTAGAGACAAGGGA 0.428 NA 15 49 8.60227e-14 1.11224e-13 0.004007 1 0 CTNNB1 1499 broad.mit.edu 37 3 41266113 41266113 + Missense_Mutation SNP C C G rs121913403 TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr3:41266113C>G uc010hia.1 + 4 266 c.110C>G c.(109-111)TCT>TGT p.S37C CTNNB1_uc003ckp.2_Missense_Mutation_p.S37C|CTNNB1_uc003ckq.2_Missense_Mutation_p.S37C|CTNNB1_uc003ckr.2_Missense_Mutation_p.S37C|CTNNB1_uc011azf.1_Missense_Mutation_p.S30C|CTNNB1_uc011azg.1_Intron|uc010hib.1_RNA NM_001904 NP_001895 P35222 CTNB1_HUMAN beta-catenin 37 S -> C (in PTR, hepatoblastoma and ovarian cancer).|SG -> W (in hepatocellular carcinoma).|S -> F (in PTR).|S -> A (in MDB and hepatocellular carcinoma; enhances transactivation of target genes).|S -> Y (in hepatocellular carcinoma). adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding p.S37F(147)|p.S37C(124)|p.A5_A80del(63)|p.S37A(59)|p.S37Y(23)|p.S37P(16)|p.H24_S47del(9)|p.A5_A80>D(7)|p.A5_Q143del(7)|p.Q28_H134del(5)|p.W25_I140del(4)|p.V22_G38del(3)|p.T3_A126del(2)|p.M5_N141>D(2)|p.D32_S47del(2)|p.V22_L139>V(2)|p.A5_Y142>D(2)|p.A5fs*7(2)|p.?(2)|p.L10_N141del(2)|p.D6_A43del(1)|p.E9_S47del(1)|p.Q28_Q61del(1)|p.A20_R151del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.Y30_A97del(1)|p.A20_A80del(1)|p.Q28_A43del(1)|p.E15_I140>V(1)|p.D17_P128del(1)|p.H24_M131del(1)|p.L7_I140del(1)|p.K19_Y142>V(1)|p.A20_L148del(1)|p.V22_A80del(1)|p.V22_G80>NNNNN(1)|p.GIHS34?(1)|p.A20_Q143del(1)|p.A13_R151del(1)|p.S23_I140del(1)|p.M1_A87del(1)|p.V22_T102del(1)|p.S23_A39del(1)|p.A21_A80del(1)|p.P16_K133del(1)|p.D6_I140del(1)|p.Q28_I140del(1)|p.E9_A80del(1)|p.G34_S37del(1)|p.I35_S37>T(1)|p.I35_K170del(1)|p.M14_S45del(1)|p.M8_G50del(1)|p.A5_G80>(1)|p.S37S(1)|p.S37T(1)|p.V22_S71>A(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.A5_R90del(1)|p.V22_Y64del(1)|p.M8_A80del(1)|p.S33_S37del(1)|p.E9_I140del(1)|p.Y30_T40del(1)|p.M1_T42del(1)|p.S37_G38>W(1)|p.A5_Q143>E(1)|p.I35_G38del(1)|p.H36_E53>L(1)|p.A5_Q72del(1)|p.Y30_A80del(1)|p.D32fs*9(1)|p.S37_A39>S(1)|p.D6_K133del(1)|p.A5_T42del(1)|p.A5_D144>D(1)|p.A5_T40del(1)|p.D17_A126del(1)|p.A5_E54del(1)|p.I35_T41del(1)|p.W25_A80del(1)|p.A20_Q72del(1)|p.A20_S111del(1) CTNNB1/PLAG1(60) liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1) 3166 KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294) Lithium(DB01356) GGAATCCATTCTGGTGCCACT 0.498 Colon(6;3 56 14213 18255) S37F(HUTU80_SMALL_INTESTINE)|S37C(SNU398_LIVER)|S37C(JHUEM2_ENDOMETRIUM) 15 H|Mis|T PLAG1 colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma Pilomatrixoma_Familial_Clustering_of 5 15 0 0 0.000602 0 0 NKTR 4820 broad.mit.edu 37 3 42680905 42680905 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr3:42680905G>T uc003clo.2 + 13 3856 c.3709G>T c.(3709-3711)GCA>TCA p.A1237S NKTR_uc003clm.1_Missense_Mutation_p.A984S|NKTR_uc003clp.2_Missense_Mutation_p.A984S|NKTR_uc011azp.1_Intron|NKTR_uc003clq.1_Missense_Mutation_p.A1127S|NKTR_uc003clr.1_Missense_Mutation_p.A984S|NKTR_uc003cls.2_Missense_Mutation_p.A937S NM_005385 NP_005376 P30414 NKTR_HUMAN natural killer-tumor recognition sequence 1237 protein folding membrane cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity ovary(2)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(284;0.24) GAACCTGGCAGCACCTAATGC 0.478 NA 9 46 1.04858e-14 1.36795e-14 0.006214 1 0 TDGF1 6997 broad.mit.edu 37 3 46620584 46620584 + Splice_Site SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr3:46620584G>C uc003cpv.2 + 2 316 c.36_splice c.e2-1 p.S12_splice LRRC2_uc003cpu.3_Intron NM_003212 NP_003203 P13385 TDGF1_HUMAN teratocarcinoma-derived growth factor 1 activation of MAPK activity|anterior/posterior axis specification, embryo|mammary gland development|morphogenesis of a branching structure|negative regulation of apoptosis|peptidyl-serine phosphorylation|positive regulation of cell migration|positive regulation of peptidyl-tyrosine phosphorylation anchored to membrane|cell surface|extrinsic to plasma membrane growth factor activity 0 BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204) CCTCTTCCTAGTGTGATTTGG 0.413 NA 17 65 0 0 0.006122 0 0 TREX1 11277 broad.mit.edu 37 3 48508518 48508518 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr3:48508518G>C uc003ctj.2 + 2 1886 c.629G>C c.(628-630)AGC>ACC p.S210T TREX1_uc010hjy.2_Missense_Mutation_p.S155T|TREX1_uc003ctk.2_Missense_Mutation_p.S16T|TREX1_uc010hjz.2_Missense_Mutation_p.S155T|TREX1_uc010hka.2_Missense_Mutation_p.S210T NM_033629 NP_338599 Q9NSU2 TREX1_HUMAN three prime repair exonuclease 1 isoform b 210 cell death|DNA recombination|DNA replication|mismatch repair nuclear envelope 3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|metal ion binding|MutLalpha complex binding|MutSalpha complex binding|protein homodimerization activity|single-stranded DNA binding 0 BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) TGTGTGGATAGCATCACTGCG 0.602 NA Direct_reversal_of_damage|Editing_and_processing_nucleases 11 68 0 0 0.010729 0 0 APEH 327 broad.mit.edu 37 3 49720763 49720763 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr3:49720763C>G uc003cxf.2 + 22 2587 c.2187C>G c.(2185-2187)CAC>CAG p.H729Q APEH_uc010hkw.1_Missense_Mutation_p.H734Q NM_001640 NP_001631 P13798 ACPH_HUMAN N-acylaminoacyl-peptide hydrolase 729 proteolysis cytoplasm|nuclear membrane serine-type endopeptidase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) TACGCACACACTTGGGCAGCT 0.567 NA 20 105 0 0 0.010504 0 0 CAMKV 79012 broad.mit.edu 37 3 49897671 49897671 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr3:49897671G>C uc003cxt.1 - 10 1068 c.875C>G c.(874-876)TCT>TGT p.S292C CAMKV_uc011bcy.1_Missense_Mutation_p.S217C|CAMKV_uc003cxv.1_Missense_Mutation_p.S264C|CAMKV_uc003cxw.1_Missense_Mutation_p.S124C|CAMKV_uc003cxx.1_Missense_Mutation_p.S124C|CAMKV_uc003cxu.2_Missense_Mutation_p.S292C|CAMKV_uc011bcz.1_Missense_Mutation_p.S255C|CAMKV_uc011bda.1_Missense_Mutation_p.S249C|CAMKV_uc011bdb.1_RNA NM_024046 NP_076951 Q8NCB2 CAMKV_HUMAN CaM kinase-like vesicle-associated 292 cytoplasmic vesicle membrane|plasma membrane ATP binding|protein serine/threonine kinase activity ovary(2)|lung(2)|large_intestine(2)|central_nervous_system(1) 7 BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) GTTCTTATCAGAAGCAGCATT 0.488 NA 13 36 0 0 0.013537 0 0 GNAT1 2779 broad.mit.edu 37 3 50230588 50230588 + Silent SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr3:50230588C>T uc003cym.2 + 2 245 c.129C>T c.(127-129)AGC>AGT p.S43S GNAT1_uc003cyl.2_Silent_p.S43S NM_144499 NP_653082 P11488 GNAT1_HUMAN rod-type transducin alpha subunit 43 GTP (By similarity). Magnesium (By similarity). detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|negative regulation of cyclic-nucleotide phosphodiesterase activity|rhodopsin mediated phototransduction|sensory perception of umami taste heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane acyl binding|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GDP binding|GTP binding|GTPase activity|protein kinase binding|signal transducer activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) CCGGGAAGAGCACCATCGTCA 0.662 NA OREG0015579 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 56 0 0 0.00308 0 0 DOCK3 1795 broad.mit.edu 37 3 51392312 51392312 + Splice_Site SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr3:51392312G>A uc011bds.1 + 41 4131 c.4108_splice c.e41-1 p.N1370_splice NM_004947 NP_004938 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 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) GTTTGTGGCAGAACAAAGAAT 0.502 NA 26 92 0 0 0.005443 0 0 RAD54L2 23132 broad.mit.edu 37 3 51663464 51663464 + Silent SNP T T C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr3:51663464T>C uc011bdt.1 + 4 581 c.456T>C c.(454-456)CCT>CCC p.P152P RAD54L2_uc003dbh.2_5'UTR|RAD54L2_uc011bdu.1_5'UTR|RAD54L2_uc003dbj.2_5'Flank NM_015106 NP_055921 Q9Y4B4 ARIP4_HUMAN RAD54-like 2 152 nucleus ATP binding|DNA binding|helicase activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896) CCCCTATTCCTACTGTTCCGC 0.527 NA 3 14 0 0 0.004672 0 0 TLR9 54106 broad.mit.edu 37 3 52257047 52257047 + Nonsense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr3:52257047C>A uc003dda.1 - 2 1919 c.1285G>T c.(1285-1287)GGA>TGA p.G429* TLR9_uc003ddb.2_Nonsense_Mutation_p.G526* NM_017442 NP_059138 Q9NR96 TLR9_HUMAN toll-like receptor 9 isoform A precursor 429 LRR 14.|Extracellular (Potential). defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity large_intestine(2)|skin(2) 4 BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Chloroquine(DB00608) TCCGAAGCTCCGCTGATGCGG 0.642 NA 46 141 3.86361e-14 5.00889e-14 0.01441 1 0 GLYCTK 132158 broad.mit.edu 37 3 52324415 52324415 + Silent SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr3:52324415C>G uc003ddo.2 + 2 153 c.57C>G c.(55-57)CTC>CTG p.L19L GLYCTK_uc003ddq.2_Silent_p.L19L|GLYCTK_uc003ddm.2_Intron|GLYCTK_uc003ddn.2_RNA|GLYCTK_uc003ddp.1_Silent_p.L19L|GLYCTK_uc003ddr.2_5'Flank NM_145262 NP_660305 Q8IVS8 GLCTK_HUMAN glycerate kinase isoform 1 19 protein phosphorylation Golgi apparatus|mitochondrion ATP binding|glycerate kinase activity|protein binding 0 BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235) TGCATCCACTCCTCTGGCGGG 0.682 NA 9 30 0 0 0.006214 0 0 DNAH1 25981 broad.mit.edu 37 3 52429689 52429689 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr3:52429689G>T uc011bef.1 + 70 11515 c.11254G>T c.(11254-11256)GAC>TAC p.D3752Y DNAH1_uc003ddv.2_Missense_Mutation_p.D610Y NM_015512 NP_056327 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 3817 AAA 6 (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity large_intestine(3) 3 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CATCAACCCCGACAAGGTGTG 0.488 NA 5 15 1.23904e-05 1.37125e-05 0.000602 1 0 ACTR8 93973 broad.mit.edu 37 3 53908248 53908248 + Missense_Mutation SNP T T C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr3:53908248T>C uc003dhd.2 - 8 1114 c.1055A>G c.(1054-1056)CAT>CGT p.H352R ACTR8_uc003dhb.2_Intron|ACTR8_uc003dhc.2_Missense_Mutation_p.H241R NM_022899 NP_075050 Q9H981 ARP8_HUMAN actin-related protein 8 352 cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ino80 complex protein binding ovary(1)|central_nervous_system(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111) CTGATCTAAATGACAAAAAGT 0.328 NA 5 26 0 0 0.000602 0 0 FLNB 2317 broad.mit.edu 37 3 58116633 58116633 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr3:58116633G>C uc003djj.2 + 25 4553 c.4388G>C c.(4387-4389)CGA>CCA p.R1463P FLNB_uc010hne.2_Missense_Mutation_p.R1463P|FLNB_uc003djk.2_Missense_Mutation_p.R1463P|FLNB_uc010hnf.2_Missense_Mutation_p.R1463P|FLNB_uc003djl.2_Missense_Mutation_p.R1294P|FLNB_uc003djm.2_Missense_Mutation_p.R1294P NM_001457 NP_001448 O75369 FLNB_HUMAN filamin B isoform 2 1463 Filamin 13.|Interaction with FBLP1. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1) 19 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) CTGGGCCCACGAGGTAAGTGT 0.617 NA 9 19 0 0 0.004482 0 0 CHMP2B 25978 broad.mit.edu 37 3 87302615 87302615 + Silent SNP T T C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr3:87302615T>C uc003dqp.3 + 5 746 c.486T>C c.(484-486)ATT>ATC p.I162I CHMP2B_uc011bgn.1_Silent_p.I121I NM_014043 NP_054762 Q9UQN3 CHM2B_HUMAN chromatin modifying protein 2B 162 cellular membrane organization|endosome transport|protein transport cytosol|late endosome membrane|mitochondrion|nucleus protein domain specific binding skin(2)|ovary(1) 3 all_cancers(8;0.104)|Lung SC(3;0.184) Lung NSC(201;0.0777) LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712) GCCAGGATATTGTGAATCAAG 0.378 NA 3 19 0 0 0.004672 0 0 EPHA3 2042 broad.mit.edu 37 3 89528582 89528582 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr3:89528582C>G uc003dqy.2 + 17 3107 c.2882C>G c.(2881-2883)CCA>CGA p.P961R EPHA3_uc010hon.1_RNA NM_005233 NP_005224 P29320 EPHA3_HUMAN ephrin receptor EphA3 isoform a precursor 961 Cytoplasmic (Potential).|SAM. extracellular region|integral to plasma membrane ATP binding lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1) 33 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) GTGGTTGGGCCACAGAAGAAG 0.428 NA TSP Lung(6;0.00050) 4 24 0 0 0.009096 0 0 PROS1 5627 broad.mit.edu 37 3 93646105 93646105 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr3:93646105C>A uc003drb.3 - 2 564 c.223G>T c.(223-225)GAC>TAC p.D75Y PROS1_uc010hoo.2_5'UTR|PROS1_uc003dqz.3_5'UTR NM_000313 NP_000304 P07225 PROS_HUMAN protein S, alpha preproprotein 75 Gla. leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen calcium ion binding|endopeptidase inhibitor activity large_intestine(1) 1 Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170) GTTTCCGGGTCATTTTCAAAG 0.393 NA 15 116 6.33239e-15 8.27599e-15 0.010504 1 0 EPHA6 285220 broad.mit.edu 37 3 96706570 96706570 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr3:96706570C>G uc010how.1 + 3 890 c.847C>G c.(847-849)CAA>GAA p.Q283E EPHA6_uc003drp.1_Missense_Mutation_p.Q283E NM_001080448 NP_001073917 Q9UF33 EPHA6_HUMAN EPH receptor A6 isoform a 188 Ephrin-binding.|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 TCTGGCTTTTCAAGACATTGG 0.458 NA 83 88 0 0 0.01441 0 0 SENP7 57337 broad.mit.edu 37 3 101056447 101056447 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr3:101056447C>T uc003dut.2 - 17 2497 c.2386G>A c.(2386-2388)GAA>AAA p.E796K SENP7_uc003duu.2_Missense_Mutation_p.E731K|SENP7_uc003duv.2_Missense_Mutation_p.E763K|SENP7_uc003duw.2_Missense_Mutation_p.E730K|SENP7_uc003dux.2_Missense_Mutation_p.E632K NM_020654 NP_065705 Q9BQF6 SENP7_HUMAN sentrin/SUMO-specific protease 7 isoform 1 796 Protease. proteolysis nucleus cysteine-type peptidase activity ovary(3)|lung(2) 5 TCAACAAGTTCATCTGATGCC 0.318 NA 6 47 0 0 0.001168 0 0 MORC1 27136 broad.mit.edu 37 3 108778673 108778673 + Silent SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr3:108778673C>T uc003dxl.2 - 12 1098 c.1011G>A c.(1009-1011)AAG>AAA p.K337K MORC1_uc011bhn.1_Silent_p.K337K NM_014429 NP_055244 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 337 Potential. cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding ovary(3)|skin(3)|breast(2) 8 CTTTAAGATTCTTTTGCTTTG 0.363 NA 6 11 0 0 0.001984 0 0 PHLDB2 90102 broad.mit.edu 37 3 111603514 111603514 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr3:111603514G>A uc010hqa.2 + 2 1001 c.590G>A c.(589-591)GGA>GAA p.G197E PHLDB2_uc003dyc.2_Missense_Mutation_p.G224E|PHLDB2_uc003dyd.2_Missense_Mutation_p.G197E|PHLDB2_uc003dyg.2_Missense_Mutation_p.G197E|PHLDB2_uc003dyh.2_Missense_Mutation_p.G197E|PHLDB2_uc003dye.3_Missense_Mutation_p.G197E|PHLDB2_uc003dyf.3_Missense_Mutation_p.G197E NM_001134438 NP_001127910 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, 197 cytoplasm|intermediate filament cytoskeleton|plasma membrane ovary(4)|skin(2) 6 AGCAGATCGGGAGCCGCAAGC 0.567 NA 6 31 0 0 0.001168 0 0 QTRTD1 79691 broad.mit.edu 37 3 113798781 113798781 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr3:113798781G>A uc003eay.2 + 8 1005 c.775G>A c.(775-777)GAG>AAG p.E259K QTRTD1_uc003eaz.2_Missense_Mutation_p.E271K|QTRTD1_uc011biq.1_Missense_Mutation_p.E136K|QTRTD1_uc011bir.1_Missense_Mutation_p.E153K NM_024638 NP_078914 Q9H974 QTRD1_HUMAN queuine tRNA-ribosyltransferase domain 259 queuosine biosynthetic process mitochondrion metal ion binding|queuine tRNA-ribosyltransferase activity central_nervous_system(1)|skin(1) 2 TCGGCCAGATGAGGTGCTCGA 0.408 NA 15 125 0 0 0.00499 0 0 DRD3 1814 broad.mit.edu 37 3 113866313 113866313 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr3:113866313C>A uc003ebd.2 - 5 898 c.475G>T c.(475-477)GTA>TTA p.V159L DRD3_uc010hqn.1_Missense_Mutation_p.V159L|DRD3_uc003ebb.1_Missense_Mutation_p.V159L|DRD3_uc003ebc.1_Missense_Mutation_p.V159L NM_000796 NP_000787 P35462 DRD3_HUMAN dopamine receptor D3 isoform a 159 Helical; Name=4. activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning integral to plasma membrane dopamine D3 receptor activity|drug binding ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246) AAGGCCAGTACCCAGACGGCC 0.542 NA 75 69 2.18329e-32 3.05408e-32 0.01441 1 0 DRD3 1814 broad.mit.edu 37 3 113890706 113890706 + Missense_Mutation SNP A A T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr3:113890706A>T uc003ebd.2 - 3 557 c.134T>A c.(133-135)TTC>TAC p.F45Y DRD3_uc010hqn.1_Missense_Mutation_p.F45Y|DRD3_uc003ebb.1_Missense_Mutation_p.F45Y|DRD3_uc003ebc.1_Missense_Mutation_p.F45Y NM_000796 NP_000787 P35462 DRD3_HUMAN dopamine receptor D3 isoform a 45 Helical; Name=1. activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning integral to plasma membrane dopamine D3 receptor activity|drug binding ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246) GCCATTGCCGAAGACGATGGC 0.607 NA 10 108 0 0 0.006214 0 0 HGD 3081 broad.mit.edu 37 3 120352002 120352002 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr3:120352002C>A uc003edw.2 - 13 1550 c.1180G>T c.(1180-1182)GGC>TGC p.G394C HGD_uc003edv.2_Missense_Mutation_p.G253C NM_000187 NP_000178 Q93099 HGD_HUMAN homogentisate 1,2-dioxygenase 394 L-phenylalanine catabolic process|tyrosine catabolic process cytosol homogentisate 1,2-dioxygenase activity|metal ion binding 0 GBM - Glioblastoma multiforme(114;0.158) ACCATGGTGCCATCGGCAATC 0.542 NA 7 31 2.7689e-08 3.30356e-08 0.001984 1 0 GOLGB1 2804 broad.mit.edu 37 3 121417151 121417151 + Missense_Mutation SNP T T C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr3:121417151T>C uc003eei.3 - 13 2330 c.2204A>G c.(2203-2205)AAC>AGC p.N735S GOLGB1_uc010hrc.2_Missense_Mutation_p.N740S|GOLGB1_uc003eej.3_Missense_Mutation_p.N701S|GOLGB1_uc011bjm.1_Missense_Mutation_p.N621S|GOLGB1_uc010hrd.1_Missense_Mutation_p.N699S NM_004487 NP_004478 Q14789 GOGB1_HUMAN golgi autoantigen, golgin subfamily b, 735 Cytoplasmic (Potential).|Potential. Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding ovary(6)|breast(2)|skin(2) 10 GBM - Glioblastoma multiforme(114;0.0989) TGCACTGCTGTTGTTGTCAGC 0.388 NA 12 38 0 0 0.010729 0 0 SEMA5B 54437 broad.mit.edu 37 3 122630855 122630855 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr3:122630855G>C uc003efz.1 - 20 3262 c.2958C>G c.(2956-2958)AGC>AGG p.S986R SEMA5B_uc011bju.1_Missense_Mutation_p.S892R|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.S986R|SEMA5B_uc003efy.1_5'UTR NM_001031702 NP_001026872 Q9P283 SEM5B_HUMAN semaphorin 5B isoform 1 986 Extracellular (Potential).|TSP type-1 5. cell differentiation|nervous system development integral to membrane receptor activity ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1) 7 GBM - Glioblastoma multiforme(114;0.0367) CACAGTGCCGGCTTCGGCTCT 0.637 NA 13 26 0 0 0.001855 0 0 KALRN 8997 broad.mit.edu 37 3 124103792 124103792 + Missense_Mutation SNP T T A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr3:124103792T>A uc003ehg.2 + 11 1992 c.1865T>A c.(1864-1866)CTG>CAG p.L622Q KALRN_uc010hrv.1_Missense_Mutation_p.L622Q|KALRN_uc003ehf.1_Missense_Mutation_p.L622Q|KALRN_uc011bjy.1_Missense_Mutation_p.L622Q|KALRN_uc003ehh.1_5'UTR NM_001024660 NP_001019831 O60229 KALRN_HUMAN kalirin, RhoGEF kinase isoform 1 622 Spectrin 3. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1) 6 GCTCGACACCTGGAGGTGCGC 0.562 NA 21 46 0 0 0.008871 0 0 KALRN 8997 broad.mit.edu 37 3 124398361 124398361 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr3:124398361G>A uc003ehg.2 + 51 7501 c.7374G>A c.(7372-7374)ATG>ATA p.M2458I KALRN_uc003ehk.2_Missense_Mutation_p.M761I NM_001024660 NP_001019831 O60229 KALRN_HUMAN kalirin, RhoGEF kinase isoform 1 2457 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1) 6 ATACTAGCATGGAGGTAGAAG 0.428 NA 13 58 0 0 0.013537 0 0 KALRN 8997 broad.mit.edu 37 3 124431933 124431933 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr3:124431933C>T uc003ehg.2 + 58 8354 c.8227C>T c.(8227-8229)CTC>TTC p.L2743F KALRN_uc003ehk.2_Missense_Mutation_p.L1046F NM_001024660 NP_001019831 O60229 KALRN_HUMAN kalirin, RhoGEF kinase isoform 1 2742 Protein kinase. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1) 6 GTACATCACTCTCCATGACAC 0.488 NA 9 29 0 0 0.004482 0 0 OSBPL11 114885 broad.mit.edu 37 3 125286264 125286264 + Nonsense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr3:125286264G>C uc003eic.2 - 6 1579 c.842C>G c.(841-843)TCA>TGA p.S281* NM_022776 NP_073613 Q9BXB4 OSB11_HUMAN oxysterol binding protein-like 11 281 lipid transport lipid binding ovary(3)|breast(1)|kidney(1) 5 CTTCTGATGTGATGCATGCTG 0.418 NA 19 74 0 0 0.007413 0 0 PLXNA1 5361 broad.mit.edu 37 3 126737303 126737303 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr3:126737303G>T uc003ejg.2 + 19 3762 c.3758G>T c.(3757-3759)CGC>CTC p.R1253L NM_032242 NP_115618 Q9UIW2 PLXA1_HUMAN plexin A1 1276 Potential.|Cytoplasmic (Potential). axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity ovary(1)|pancreas(1)|skin(1) 3 GBM - Glioblastoma multiforme(114;0.155) GATGCTGACCGCACACTCAAG 0.632 NA 9 40 0.000274275 0.000292399 0.004482 1 0 PLXNA1 5361 broad.mit.edu 37 3 126746796 126746796 + Missense_Mutation SNP A A G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr3:126746796A>G uc003ejg.2 + 23 4311 c.4307A>G c.(4306-4308)GAG>GGG p.E1436G PLXNA1_uc003ejh.2_Missense_Mutation_p.E104G NM_032242 NP_115618 Q9UIW2 PLXA1_HUMAN plexin A1 1459 Cytoplasmic (Potential). axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity ovary(1)|pancreas(1)|skin(1) 3 GBM - Glioblastoma multiforme(114;0.155) TGCGCTGGGGAGCCGCTGTTC 0.667 NA 6 34 0 0 0.004482 0 0 EEFSEC 60678 broad.mit.edu 37 3 128060645 128060645 + Silent SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr3:128060645C>T uc003eki.2 + 5 1394 c.1356C>T c.(1354-1356)CAC>CAT p.H452H EEFSEC_uc003ekj.2_Silent_p.H397H NM_021937 NP_068756 P57772 SELB_HUMAN eukaryotic elongation factor, 452 cytoplasm|nucleus GTP binding|GTPase activity|translation elongation factor activity ovary(1) 1 TCCTGCTCCACGGGCTAGAGG 0.612 NA 25 43 0 0 0.00333 0 0 PLXND1 23129 broad.mit.edu 37 3 129290609 129290610 + Missense_Mutation DNP CT CT AC TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 CT CT - - CT CT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr3:129290609_129290610CT>AC uc003emx.2 - 16 3255_3256 c.3155_3156AG>GT c.(3154-3156)GAG>GGT p.E1052G NM_015103 NP_055918 Q9Y4D7 PLXD1_HUMAN plexin D1 precursor 1052 Extracellular (Potential).|IPT/TIG 2. axon guidance integral to membrane|intracellular|plasma membrane large_intestine(1) 1 AGCCCCGACGCTCGAAGCGCAC 0.663 Ovarian(97;366 1484 3738 22084 39045) NA 6 44 0 0 0.004672 0 0 EPHB1 2047 broad.mit.edu 37 3 134670262 134670262 + Missense_Mutation SNP A A G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr3:134670262A>G uc003eqt.2 + 3 393 c.173A>G c.(172-174)TAC>TGC p.Y58C EPHB1_uc010htz.1_RNA|EPHB1_uc011bly.1_Missense_Mutation_p.Y58C NM_004441 NP_004432 P54762 EPHB1_HUMAN ephrin receptor EphB1 precursor 58 Extracellular (Potential). integral to plasma membrane ATP binding|ephrin receptor activity|protein binding lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1) 30 ATCCGCACCTACCAGGTGTGC 0.527 NA 2 10 0 0 0.004672 0 0 EPHB1 2047 broad.mit.edu 37 3 134851748 134851748 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr3:134851748G>T uc003eqt.2 + 5 1374 c.1154G>T c.(1153-1155)GGC>GTC p.G385V EPHB1_uc010htz.1_RNA|EPHB1_uc011bly.1_3'UTR|EPHB1_uc003equ.2_5'UTR NM_004441 NP_004432 P54762 EPHB1_HUMAN ephrin receptor EphB1 precursor 385 Extracellular (Potential).|Fibronectin type-III 1. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1) 30 AGGCAGCTGGGCCTGACGGAG 0.597 NA 3 39 0.004672 0.004818 0.004672 1 0 PLS1 5357 broad.mit.edu 37 3 142388273 142388273 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr3:142388273G>T uc010huv.2 + 3 271 c.112G>T c.(112-114)GAC>TAC p.D38Y PLS1_uc003euz.2_Missense_Mutation_p.D38Y|PLS1_uc003eva.2_Missense_Mutation_p.D38Y NM_001145319 NP_001138791 Q14651 PLSI_HUMAN plastin 1 38 EF-hand 1. cytoplasm actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(1) 1 TGAACTTCAAGACCTGTTTAA 0.368 NA 8 43 5.18039e-06 5.81293e-06 0.00308 1 0 MED12L 116931 broad.mit.edu 37 3 150881826 150881826 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr3:150881826G>T uc003eyp.2 + 8 1292 c.1254G>T c.(1252-1254)CAG>CAT p.Q418H MED12L_uc011bnz.1_Intron|MED12L_uc003eyn.2_Missense_Mutation_p.Q418H|MED12L_uc003eyo.2_Missense_Mutation_p.Q418H NM_053002 NP_443728 Q86YW9 MD12L_HUMAN mediator of RNA polymerase II transcription, 418 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1) 7 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) CTTTCAATCAGCAGGTAGACT 0.378 NA 6 110 0.00116845 0.00122497 0.001168 1 0 MED12L 116931 broad.mit.edu 37 3 150906262 150906262 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr3:150906262C>T uc003eyp.2 + 12 1786 c.1748C>T c.(1747-1749)TCT>TTT p.S583F MED12L_uc011bnz.1_Missense_Mutation_p.S443F|MED12L_uc003eyn.2_Missense_Mutation_p.S583F|MED12L_uc003eyo.2_Missense_Mutation_p.S583F NM_053002 NP_443728 Q86YW9 MD12L_HUMAN mediator of RNA polymerase II transcription, 583 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1) 7 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) CAGGCCCCCTCTTTGTGTAAG 0.333 NA 13 93 0 0 0.004007 0 0 PLCH1 23007 broad.mit.edu 37 3 155215184 155215184 + Missense_Mutation SNP T T A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr3:155215184T>A uc011bok.1 - 14 2060 c.1783A>T c.(1783-1785)ATG>TTG p.M595L PLCH1_uc011boj.1_Missense_Mutation_p.M595L|PLCH1_uc011bol.1_Missense_Mutation_p.M577L NM_001130960 NP_001124432 Q4KWH8 PLCH1_HUMAN phospholipase C eta 1 isoform a 595 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) CAGAGCTTCATGGTTTTCCTT 0.473 NA 16 53 0 0 0.004007 0 0 SLC33A1 9197 broad.mit.edu 37 3 155571195 155571195 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr3:155571195C>G uc003fan.3 - 1 973 c.592G>C c.(592-594)GAT>CAT p.D198H SLC33A1_uc003fao.1_Missense_Mutation_p.D198H NM_004733 NP_004724 O00400 ACATN_HUMAN acetyl-coenzyme A transporter 198 Cytoplasmic (Potential). cell death|transmembrane transport endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction acetyl-CoA transporter activity ovary(2)|large_intestine(1)|pancreas(1) 4 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) GCCCAACCATCGACGGCAATG 0.473 NA 11 44 0 0 0.008291 0 0 GMPS 8833 broad.mit.edu 37 3 155615825 155615825 + Missense_Mutation SNP A A G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr3:155615825A>G uc003faq.2 + 3 654 c.319A>G c.(319-321)ATG>GTG p.M107V GMPS_uc011bom.1_Intron NM_003875 NP_003866 P49915 GUAA_HUMAN guanine monophosphate synthetase 107 Glutamine amidotransferase type-1. glutamine metabolic process|purine base biosynthetic process cytosol ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity ovary(2)|lung(1) 3 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) TTGCTATGGTATGCAGGTATG 0.363 Ovarian(153;896 1876 4149 15499 28134) NA T MLL AML 23 99 0 0 0.00278 0 0 SHOX2 6474 broad.mit.edu 37 3 157820536 157820536 + Silent SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr3:157820536G>T uc003fbr.2 - 2 625 c.486C>A c.(484-486)ACC>ACA p.T162T SHOX2_uc003fbs.2_Silent_p.T186T|SHOX2_uc010hvw.2_Silent_p.T162T NM_006884 NP_006875 O60902 SHOX2_HUMAN short stature homeobox 2 isoform a 162 Homeobox. nervous system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043) CGGGATAGTGGGTCTCGTCAA 0.597 NA 84 75 2.13026e-44 2.99723e-44 0.01441 1 0 PPM1L 151742 broad.mit.edu 37 3 160474243 160474243 + Silent SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr3:160474243G>C uc003fdr.2 + 1 248 c.147G>C c.(145-147)GTG>GTC p.V49V NM_139245 NP_640338 Q5SGD2 PPM1L_HUMAN protein phosphatase 1 (formerly 2C)-like 49 Cytoplasmic (Potential). protein dephosphorylation|sphingolipid metabolic process endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity breast(1) 1 Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216) AGACCATCGTGAAGTCCAGCC 0.562 Pancreas(86;250 1994 13715 43211) NA 19 111 0 0 0.006122 0 0 LRRC31 79782 broad.mit.edu 37 3 169579498 169579498 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr3:169579498C>G uc003fgc.1 - 2 356 c.279G>C c.(277-279)TTG>TTC p.L93F LRRC31_uc010hwp.1_Missense_Mutation_p.L93F NM_024727 NP_079003 Q6UY01 LRC31_HUMAN leucine rich repeat containing 31 93 ovary(2)|skin(1) 3 all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943) CACAGTTATTCAAATCTAGAC 0.428 NA 35 296 0 0 0.003755 0 0 PLD1 5337 broad.mit.edu 37 3 171395480 171395480 + Silent SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr3:171395480G>A uc003fhs.2 - 17 1988 c.1872C>T c.(1870-1872)ACC>ACT p.T624T PLD1_uc003fht.2_Silent_p.T586T|PLD1_uc003fhv.1_5'UTR NM_002662 NP_002653 Q13393 PLD1_HUMAN phospholipase D1 isoform a 624 Catalytic. cell communication|chemotaxis|Ras protein signal transduction endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity ovary(2)|lung(1) 3 all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) Choline(DB00122) GGATGGACCCGGTATCTGTGA 0.488 NSCLC(149;2174 3517 34058) NA 7 65 0 0 0.001984 0 0 NLGN1 22871 broad.mit.edu 37 3 173998896 173998896 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr3:173998896C>T uc003fio.1 + 7 2698 c.2275C>T c.(2275-2277)CCC>TCC p.P759S NLGN1_uc003fip.1_Missense_Mutation_p.P759S NM_014932 NP_055747 Q8N2Q7 NLGN1_HUMAN neuroligin 1 776 Cytoplasmic (Potential). calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane cell adhesion molecule binding|neurexin binding|receptor activity lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1) 7 Ovarian(172;0.0025) LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13) GACCGCCTGTCCCCCAGATTA 0.458 NA 27 34 0 0 0.005443 0 0 TBL1XR1 79718 broad.mit.edu 37 3 176769466 176769466 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr3:176769466C>G uc003fiw.3 - 5 513 c.253G>C c.(253-255)GAT>CAT p.D85H TBL1XR1_uc003fix.3_Missense_Mutation_p.D85H|TBL1XR1_uc011bpz.1_5'UTR|TBL1XR1_uc003fiy.2_Missense_Mutation_p.D85H NM_024665 NP_078941 Q9BZK7 TBL1R_HUMAN transducin (beta)-like 1 X-linked receptor 1 85 F-box-like. canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent spindle microtubule|transcriptional repressor complex beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding ovary(1) 1 all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214) Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215) OV - Ovarian serous cystadenocarcinoma(80;9.83e-31) ATTACGGCATCTATCAGGGAC 0.443 NA 8 50 0 0 0.00308 0 0 EIF4G1 1981 broad.mit.edu 37 3 184039092 184039092 + Silent SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr3:184039092C>T uc003fnp.2 + 10 918 c.720C>T c.(718-720)ATC>ATT p.I240I EIF4G1_uc003fno.1_Silent_p.I181I|EIF4G1_uc010hxw.1_Silent_p.I76I|EIF4G1_uc003fnt.2_5'UTR|EIF4G1_uc003fnq.2_Silent_p.I153I|EIF4G1_uc003fnr.2_Silent_p.I76I|EIF4G1_uc010hxx.2_Silent_p.I247I|EIF4G1_uc003fns.2_Silent_p.I200I|EIF4G1_uc010hxy.2_Silent_p.I247I|EIF4G1_uc003fnv.3_Silent_p.I240I|EIF4G1_uc003fnu.3_Silent_p.I240I|EIF4G1_uc003fnw.2_Silent_p.I247I|EIF4G1_uc003fnx.2_Silent_p.I44I|EIF4G1_uc003fny.3_Silent_p.I44I NM_198241 NP_937884 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 240 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) AGGGAGCAATCATTGCTGACC 0.572 NA 25 168 0 0 0.004656 0 0 EIF4G1 1981 broad.mit.edu 37 3 184044714 184044714 + Nonsense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr3:184044714C>G uc003fnp.2 + 23 3569 c.3371C>G c.(3370-3372)TCA>TGA p.S1124* EIF4G1_uc003fnt.2_Nonsense_Mutation_p.S835*|EIF4G1_uc003fnq.2_Nonsense_Mutation_p.S1037*|EIF4G1_uc003fnr.2_Nonsense_Mutation_p.S960*|EIF4G1_uc010hxx.2_Nonsense_Mutation_p.S1131*|EIF4G1_uc003fns.2_Nonsense_Mutation_p.S1084*|EIF4G1_uc010hxy.2_Nonsense_Mutation_p.S1131*|EIF4G1_uc003fnv.3_Nonsense_Mutation_p.S1125*|EIF4G1_uc003fnu.3_Nonsense_Mutation_p.S1124*|EIF4G1_uc003fnw.2_Nonsense_Mutation_p.S1131*|EIF4G1_uc003fnx.2_Nonsense_Mutation_p.S929*|EIF4G1_uc003fny.3_Nonsense_Mutation_p.S928*|EIF4G1_uc003foa.2_5'Flank NM_198241 NP_937884 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 1124 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) AATCGCTTCTCAGCCCTTCAA 0.463 NA 9 184 0 0 0.006214 0 0 CHRD 8646 broad.mit.edu 37 3 184102332 184102332 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr3:184102332G>C uc003fov.2 + 13 1694 c.1448G>C c.(1447-1449)GGT>GCT p.G483A CHRD_uc003fow.2_Missense_Mutation_p.G113A|CHRD_uc003fox.2_Missense_Mutation_p.G483A|CHRD_uc003foy.2_Missense_Mutation_p.G113A|CHRD_uc010hyc.2_Missense_Mutation_p.G73A|CHRD_uc011brr.1_Missense_Mutation_p.G113A NM_003741 NP_003732 Q9H2X0 CHRD_HUMAN chordin precursor 483 CHRD 3. BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development extracellular space cytokine binding skin(2)|ovary(1) 3 all_cancers(143;6.33e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CAGGCCGTGGGTATCTGCCCT 0.607 NA 198 176 0 0 0.01441 0 0 C3orf70 285382 broad.mit.edu 37 3 184801039 184801039 + Nonsense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr3:184801039G>C uc003fpd.2 - 2 700 c.509C>G c.(508-510)TCA>TGA p.S170* NM_001025266 NP_001020437 A6NLC5 CC070_HUMAN hypothetical protein LOC285382 170 0 GCTCTCTTTTGAAATTAAGGC 0.463 NA 24 60 0 0 0.003954 0 0 RTP4 64108 broad.mit.edu 37 3 187088747 187088747 + Silent SNP T T C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr3:187088747T>C uc003frm.2 + 2 389 c.327T>C c.(325-327)GAT>GAC p.D109D NM_022147 NP_071430 Q96DX8 RTP4_HUMAN 28kD interferon responsive protein 109 Cytoplasmic (Potential). detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane cytoplasm|integral to membrane protein binding 0 all_cancers(143;4.66e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.56e-18) GBM - Glioblastoma multiforme(93;0.0269) TCTCCTCGGATAGCACCATGA 0.507 NA 7 30 0 0 0.001984 0 0 BCL6 604 broad.mit.edu 37 3 187447552 187447552 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr3:187447552C>A uc003frp.3 - 5 1098 c.641G>T c.(640-642)CGG>CTG p.R214L BCL6_uc011bsf.1_Missense_Mutation_p.R214L|BCL6_uc010hza.2_Missense_Mutation_p.R112L|BCL6_uc003frq.1_Missense_Mutation_p.R214L NM_001130845 NP_001124317 P41182 BCL6_HUMAN B-cell lymphoma 6 protein isoform 1 214 negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|lung(2)|central_nervous_system(1) 5 all_cancers(143;9.45e-12)|Ovarian(172;0.0418) OV - Ovarian serous cystadenocarcinoma(80;1.76e-18) GBM - Glioblastoma multiforme(93;0.0141) CCGGACATCCCGAAACTCCTC 0.622 NA T|Mis IG loci|ZNFN1A1|LCP1|PIM1|TFRC|MHC2TA|NACA|HSPCB|HSPCA|HIST1H4I|IL21R| POU2AF1|ARHH|EIF4A2|SFRS3 NHL|CLL 14 66 3.27435e-08 3.89702e-08 0.00245 1 0 C3orf59 151963 broad.mit.edu 37 3 192516994 192516994 + Silent SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr3:192516994G>A uc011bsp.1 - 2 978 c.657C>T c.(655-657)ATC>ATT p.I219I NM_178496 NP_848591 Q8IYB1 M21D2_HUMAN hypothetical protein LOC151963 219 0 all_cancers(143;1.56e-08)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.8e-18)|LUSC - Lung squamous cell carcinoma(58;8.04e-06)|Lung(62;8.62e-06) GBM - Glioblastoma multiforme(46;3.86e-05) TGATGGAGATGATGGTCCCAT 0.468 NA 8 96 0 0 0.00308 0 0 OPA1 4976 broad.mit.edu 37 3 193364866 193364866 + Silent SNP A A G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr3:193364866A>G uc003ftm.2 + 17 1836 c.1602A>G c.(1600-1602)CTA>CTG p.L534L OPA1_uc003ftg.2_Silent_p.L589L|OPA1_uc003fth.2_Silent_p.L553L|OPA1_uc003fti.2_Silent_p.L571L|OPA1_uc003ftj.2_Silent_p.L552L|OPA1_uc003ftk.2_Silent_p.L535L|OPA1_uc003ftl.2_Silent_p.L516L|OPA1_uc003ftn.2_Silent_p.L498L NM_015560 NP_056375 O60313 OPA1_HUMAN optic atrophy 1 isoform 1 534 Mitochondrial intermembrane (By similarity). apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane GTP binding|GTPase activity|magnesium ion binding|protein binding 0 all_cancers(143;9.56e-09)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000162) CAAGCATGCTAAAGGCACACC 0.368 NA 21 13 0 0 0.014323 0 0 LRRC15 131578 broad.mit.edu 37 3 194080147 194080147 + Silent SNP G G T rs113394891 byFrequency TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr3:194080147G>T uc003ftu.2 - 2 1712 c.1626C>A c.(1624-1626)GCC>GCA p.A542A LRRC15_uc003ftt.2_Silent_p.A548A NM_130830 NP_570843 Q8TF66 LRC15_HUMAN leucine rich repeat containing 15 isoform b 542 Helical; (Potential). 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) TTACAATGGCGGCAATGGCCA 0.597 NA 105 72 3.01496e-42 4.23787e-42 0.01441 1 0 PIGZ 80235 broad.mit.edu 37 3 196675122 196675122 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr3:196675122G>A uc003fxh.2 - 3 793 c.646C>T c.(646-648)CTT>TTT p.L216F NM_025163 NP_079439 Q86VD9 PIGZ_HUMAN phosphatidylinositol glycan anchor biosynthesis, 216 Helical; (Potential). GPI anchor biosynthetic process integral to membrane|intrinsic to endoplasmic reticulum membrane alpha-1,2-mannosyltransferase activity ovary(3) 3 all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838) Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00603) ATGCCTCCAAGAAGCCAGCTG 0.637 NA 18 129 0 0 0.007413 0 0 ZNF718 255403 broad.mit.edu 37 4 53308 53308 + Splice_Site SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr4:53308G>T uc003fzt.3 + 3 64 c.-69_splice c.e3+1 ZNF595_uc003fzu.1_RNA|ZNF595_uc010iay.1_RNA|ZNF595_uc003fzv.1_5'UTR|ZNF595_uc011bus.1_5'UTR|ZNF595_uc011but.1_5'UTR NM_001039127 NP_001034216 Q3SXZ3 ZN718_HUMAN zinc finger protein 718 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18) CACAGCCTCTGCCTCCCGTTG 0.607 NA 10 127 1.58986e-06 1.81627e-06 0.008291 1 0 SPON2 10417 broad.mit.edu 37 4 1165838 1165838 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr4:1165838C>T uc003gcn.3 - 1 49 c.22G>A c.(22-24)GCC>ACC p.A8T SPON2_uc003gco.3_Missense_Mutation_p.A8T|SPON2_uc010ibr.2_Missense_Mutation_p.A8T|SPON2_uc003gcm.1_5'Flank NM_012445 NP_036577 Q9BUD6 SPON2_HUMAN spondin 2, extracellular matrix protein 8 axon guidance|cell adhesion|innate immune response proteinaceous extracellular matrix metal ion binding central_nervous_system(1) 1 OV - Ovarian serous cystadenocarcinoma(23;0.00805) UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19) CCCAGGGCGGCGGCCGGGCTG 0.726 NA 7 27 0 0 0.00308 0 0 NOP14 8602 broad.mit.edu 37 4 2948195 2948195 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr4:2948195C>T uc003ggj.1 - 11 1651 c.1579G>A c.(1579-1581)GAG>AAG p.E527K C4orf10_uc003gge.1_Intron|C4orf10_uc003ggh.2_Intron|C4orf10_uc003ggi.1_Intron|NOP14_uc010icp.2_Missense_Mutation_p.E273K|NOP14_uc003ggk.3_Missense_Mutation_p.E527K|NOP14_uc003ggl.2_Missense_Mutation_p.E527K NM_003703 NP_003694 P78316 NOP14_HUMAN probable nucleolar complex protein 14 527 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) mitochondrion|Noc4p-Nop14p complex|small-subunit processome snoRNA binding pancreas(1) 1 TCTTCCATCTCATGCATCGCA 0.473 NA 6 71 0 0 0.00308 0 0 RGS12 6002 broad.mit.edu 37 4 3424297 3424297 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr4:3424297G>T uc003ggw.2 + 11 3937 c.3033G>T c.(3031-3033)AAG>AAT p.K1011N RGS12_uc003ggv.2_Missense_Mutation_p.K1011N|RGS12_uc003ggy.1_Missense_Mutation_p.K409N|RGS12_uc003ggz.2_Missense_Mutation_p.K363N|RGS12_uc010icu.1_Missense_Mutation_p.K210N|RGS12_uc011bvs.1_Missense_Mutation_p.K353N|RGS12_uc003gha.2_Missense_Mutation_p.K353N|RGS12_uc010icv.2_Missense_Mutation_p.K210N|RGS12_uc003ghb.2_Missense_Mutation_p.K210N NM_198229 NP_937872 O14924 RGS12_HUMAN regulator of G-protein signalling 12 isoform 1 1011 RBD 1. condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) GCGGGGACAAGGTACTGGGCC 0.677 NA 20 16 2.37509e-13 3.0465e-13 0.010504 1 0 OTOP1 133060 broad.mit.edu 37 4 4199621 4199621 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr4:4199621C>A uc003ghp.1 - 5 970 c.940G>T c.(940-942)GGC>TGC p.G314C NM_177998 NP_819056 Q7RTM1 OTOP1_HUMAN otopetrin 1 314 Helical; (Potential). biomineral tissue development extracellular space|integral to membrane ovary(2)|central_nervous_system(1) 3 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) AGGACTGCGCCCACCATGACC 0.577 NA 26 36 3.28513e-13 4.20265e-13 0.003954 1 0 TADA2B 93624 broad.mit.edu 37 4 7056721 7056721 + Silent SNP A A C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr4:7056721A>C uc003gjw.3 + 2 1354 c.1203A>C c.(1201-1203)CTA>CTC p.L401L TADA2B_uc010idi.2_Silent_p.L326L NM_152293 NP_689506 Q86TJ2 TAD2B_HUMAN transcriptional adaptor 2 (ADA2 homolog, 401 regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|zinc ion binding 0 ACAAAGTCCTAAAGAAAAGGA 0.488 NA 11 32 0 0 0.008291 0 0 ACOX3 8310 broad.mit.edu 37 4 8418229 8418229 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr4:8418229C>T uc010idk.2 - 2 165 c.20G>A c.(19-21)GGA>GAA p.G7E ACOX3_uc003glc.3_Missense_Mutation_p.G7E|ACOX3_uc003gld.3_Missense_Mutation_p.G7E|ACOX3_uc003gle.1_5'Flank NM_003501 NP_003492 O15254 ACOX3_HUMAN acyl-Coenzyme A oxidase 3 isoform a 7 bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity central_nervous_system(1) 1 TGTGTCGCCTCCTTCCACAGT 0.572 NA 4 39 0 0 0.009096 0 0 DRD5 1816 broad.mit.edu 37 4 9784051 9784051 + Missense_Mutation SNP T T A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr4:9784051T>A uc003gmb.3 + 1 794 c.398T>A c.(397-399)GTC>GAC p.V133D NM_000798 NP_000789 P21918 DRD5_HUMAN dopamine receptor D5 133 Helical; Name=3; (Potential). activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane skin(1) 1 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) AACCTGTGCGTCATCAGCGTG 0.627 NA 16 28 0 0 0.004007 0 0 KLB 152831 broad.mit.edu 37 4 39448475 39448475 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr4:39448475G>A uc003gua.2 + 4 2226 c.2129G>A c.(2128-2130)GGG>GAG p.G710E KLB_uc011byj.1_Missense_Mutation_p.G701E NM_175737 NP_783864 Q86Z14 KLOTB_HUMAN klotho beta 710 Extracellular (Potential).|Glycosyl hydrolase-1 2. carbohydrate metabolic process integral to membrane|plasma membrane cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds skin(1) 1 GACACCTACGGGGCGGCGCAC 0.657 NA 19 47 0 0 0.008871 0 0 N4BP2 55728 broad.mit.edu 37 4 40099000 40099000 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr4:40099000C>T uc003guy.3 + 3 378 c.40C>T c.(40-42)CGG>TGG p.R14W N4BP2_uc010ifq.2_5'UTR NM_018177 NP_060647 Q86UW6 N4BP2_HUMAN Nedd4 binding protein 2 14 cytoplasm ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding lung(3)|breast(2)|kidney(2)|ovary(1) 8 AAATCCTTTTCGGAAGACTGC 0.413 NA 13 27 0 0 0.004007 0 0 RBM47 54502 broad.mit.edu 37 4 40440598 40440598 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr4:40440598C>G uc003gvc.2 - 4 1023 c.313G>C c.(313-315)GAC>CAC p.D105H RBM47_uc003gvd.2_Missense_Mutation_p.D105H|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Missense_Mutation_p.D67H|RBM47_uc003gvg.1_Missense_Mutation_p.D105H NM_001098634 NP_001092104 A0AV96 RBM47_HUMAN RNA binding motif protein 47 isoform a 105 RRM 1. nucleus nucleotide binding|RNA binding breast(3) 3 CCGTCAAAGTCCATCATGAGG 0.632 NA 13 70 0 0 0.003163 0 0 SLC30A9 10463 broad.mit.edu 37 4 42024921 42024921 + Silent SNP A A G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr4:42024921A>G uc003gwl.2 + 5 647 c.501A>G c.(499-501)GTA>GTG p.V167V SLC30A9_uc011byx.1_5'UTR NM_006345 NP_006336 Q6PML9 ZNT9_HUMAN solute carrier family 30 (zinc transporter), 167 nucleotide-excision repair|zinc ion transport cytoskeleton|integral to membrane|nucleus cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|ovary(1) 3 CTTTTACTGTATACTTGAGAT 0.323 NA 4 21 0 0 0.000602 0 0 LRRC66 339977 broad.mit.edu 37 4 52869406 52869406 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr4:52869406C>T uc003gzi.2 - 2 662 c.649G>A c.(649-651)GAC>AAC p.D217N NM_001024611 NP_001019782 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 217 LRR 5. integral to membrane ovary(1)|central_nervous_system(1)|skin(1) 3 TTTTTGAGGTCCTTGAAGGCT 0.343 NA 17 19 0 0 0.004007 0 0 PPAT 5471 broad.mit.edu 37 4 57261580 57261580 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr4:57261580C>G uc003hbr.2 - 11 1694 c.1492G>C c.(1492-1494)GAA>CAA p.E498Q NM_002703 NP_002694 Q06203 PUR1_HUMAN phosphoribosyl pyrophosphate amidotransferase 498 glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process cytosol 4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding 0 Glioma(25;0.08)|all_neural(26;0.101) L-Glutamine(DB00130)|Thioguanine(DB00352) CCACTCTTTTCAAAACATTCC 0.358 NA 3 12 0 0 0.004672 0 0 EPHA5 2044 broad.mit.edu 37 4 66467425 66467425 + Missense_Mutation SNP A A G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr4:66467425A>G uc003hcy.2 - 3 1037 c.844T>C c.(844-846)TGG>CGG p.W282R EPHA5_uc003hcx.2_Missense_Mutation_p.W213R|EPHA5_uc003hcz.2_Missense_Mutation_p.W282R|EPHA5_uc011cah.1_Missense_Mutation_p.W282R|EPHA5_uc011cai.1_Missense_Mutation_p.W282R|EPHA5_uc003hda.2_Missense_Mutation_p.W282R NM_004439 NP_004430 P54756 EPHA5_HUMAN ephrin receptor EphA5 isoform a precursor 282 Extracellular (Potential).|Cys-rich. cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity lung(19)|stomach(2)|ovary(2)|central_nervous_system(1) 24 GGCACCAGCCACTCCCCTTCG 0.532 NA TSP Lung(17;0.13) 13 20 0 0 0.00245 0 0 UGT2B11 10720 broad.mit.edu 37 4 70070363 70070363 + Silent SNP A A G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr4:70070363A>G uc003heh.2 - 5 1104 c.1095T>C c.(1093-1095)CAT>CAC p.H365H uc003hei.1_Intron NM_001073 NP_001064 O75310 UDB11_HUMAN UDP glucuronosyltransferase 2 family, 365 estrogen metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 3 TGGTTTTTGGATGACCTAGGA 0.378 NA 7 31 0 0 0.001984 0 0 ANKRD17 26057 broad.mit.edu 37 4 73962875 73962875 + Silent SNP A A C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr4:73962875A>C uc003hgp.2 - 27 5253 c.5136T>G c.(5134-5136)CGT>CGG p.R1712R ANKRD17_uc003hgo.2_Silent_p.R1599R|ANKRD17_uc003hgq.2_Silent_p.R1461R|ANKRD17_uc003hgr.2_Silent_p.R1711R NM_032217 NP_115593 O75179 ANR17_HUMAN ankyrin repeat domain protein 17 isoform a 1712 interspecies interaction between organisms cytoplasm|nucleus RNA binding ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1) 10 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) TCTTTTGCCCACGCTTAGGAC 0.388 NA 50 66 0 0 0.01441 0 0 HELQ 113510 broad.mit.edu 37 4 84339310 84339310 + Missense_Mutation SNP T T C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr4:84339310T>C uc003hom.2 - 16 3178 c.2999A>G c.(2998-3000)AAG>AGG p.K1000R HELQ_uc010ikb.2_Missense_Mutation_p.K933R|HELQ_uc003hol.3_RNA|HELQ_uc010ikc.2_RNA NM_133636 NP_598375 Q8TDG4 HELQ_HUMAN DNA helicase HEL308 1000 ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(1)|breast(1)|skin(1) 3 AGTCAGCTTCTTGGTAAGTTC 0.348 NA Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function 47 55 0 0 0.01441 0 0 CENPE 1062 broad.mit.edu 37 4 104067129 104067129 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr4:104067129G>C uc003hxb.1 - 30 4360 c.4270C>G c.(4270-4272)CTC>GTC p.L1424V CENPE_uc003hxc.1_Missense_Mutation_p.L1399V NM_001813 NP_001804 Q02224 CENPE_HUMAN centromere protein E 1424 Potential. blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity ovary(5)|breast(4) 9 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) GACAATCCGAGCATTTCTATT 0.363 NA 6 46 0 0 0.001168 0 0 PAPSS1 9061 broad.mit.edu 37 4 108576016 108576016 + Silent SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr4:108576016C>A uc003hyk.2 - 8 1020 c.936G>T c.(934-936)GCG>GCT p.A312A PAPSS1_uc011cfh.1_RNA NM_005443 NP_005434 O43252 PAPS1_HUMAN 3'-phosphoadenosine 5'-phosphosulfate synthase 312 Adenylyl-sulfate kinase. 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process cytosol adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity ovary(1) 1 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;5.49e-05) CTTCATGAGTCGCAGTCAGAA 0.458 NA 29 38 4.59853e-10 5.62042e-10 0.005443 1 0 NEUROG2 63973 broad.mit.edu 37 4 113436310 113436310 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr4:113436310G>T uc003ias.2 - 2 649 c.322C>A c.(322-324)CGC>AGC p.R108S NM_024019 NP_076924 Q9H2A3 NGN2_HUMAN neurogenin 2 108 positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent nucleus E-box binding skin(2)|central_nervous_system(1) 3 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.00168) TTCTTGATGCGCTGCACCGTC 0.687 NA 23 36 1.10513e-12 1.40636e-12 0.014323 1 0 NDST4 64579 broad.mit.edu 37 4 115750957 115750957 + Missense_Mutation SNP T T C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr4:115750957T>C uc003ibu.2 - 13 3167 c.2488A>G c.(2488-2490)ATG>GTG p.M830V NDST4_uc010imw.2_RNA NM_022569 NP_072091 Q9H3R1 NDST4_HUMAN heparan sulfate N-deacetylase/N-sulfotransferase 830 Lumenal (Potential).|Heparan sulfate N-sulfotransferase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity skin(3)|ovary(1) 4 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) TCTGGATCCATAGGTGGATAT 0.343 NA 8 8 0 0 0.00308 0 0 NDST4 64579 broad.mit.edu 37 4 115769466 115769466 + Silent SNP A A T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr4:115769466A>T uc003ibu.2 - 9 2524 c.1845T>A c.(1843-1845)CTT>CTA p.L615L NDST4_uc010imw.2_RNA NM_022569 NP_072091 Q9H3R1 NDST4_HUMAN heparan sulfate N-deacetylase/N-sulfotransferase 615 Lumenal (Potential).|Heparan sulfate N-sulfotransferase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity skin(3)|ovary(1) 4 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) AAGGATGCATAAGAAGAAATA 0.318 NA 8 14 0 0 0.00308 0 0 PRDM5 11107 broad.mit.edu 37 4 121738051 121738051 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr4:121738051G>C uc003idn.2 - 6 929 c.679C>G c.(679-681)CTA>GTA p.L227V PRDM5_uc003ido.2_Intron|PRDM5_uc010ine.2_Intron|PRDM5_uc010inf.2_Intron NM_018699 NP_061169 Q9NQX1 PRDM5_HUMAN PR domain containing 5 227 histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(1)|pancreas(1) 2 GACTCCTTTAGACTGCTTTTC 0.368 NA 15 56 0 0 0.004007 0 0 TNIP3 79931 broad.mit.edu 37 4 122063033 122063033 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr4:122063033G>T uc010ing.2 - 9 1019 c.823C>A c.(823-825)CAC>AAC p.H275N TNIP3_uc010inh.2_Missense_Mutation_p.H275N|TNIP3_uc011cgj.1_Missense_Mutation_p.H333N NM_024873 NP_079149 Q96KP6 TNIP3_HUMAN TNFAIP3 interacting protein 3 275 ovary(1) 1 TCTTGCAGGTGGAAAACCAAG 0.502 NA 10 16 2.80697e-09 3.40495e-09 0.010729 1 0 SLC25A31 83447 broad.mit.edu 37 4 128651782 128651782 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr4:128651782G>A uc003ifl.2 + 1 228 c.82G>A c.(82-84)GGA>AGA p.G28R NM_031291 NP_112581 Q9H0C2 ADT4_HUMAN solute carrier family 25 (mitochondrial carrier; 28 Solcar 1.|Helical; Name=1; (Potential). transmembrane transport cilium|flagellum|integral to membrane|mitochondrial inner membrane binding|transporter activity 0 TCTGGCCGGCGGAGTCGCGGC 0.602 NA 40 37 0 0 0.009718 0 0 MFSD8 256471 broad.mit.edu 37 4 128843023 128843023 + Missense_Mutation SNP T T A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr4:128843023T>A uc003ifp.2 - 11 1257 c.1094A>T c.(1093-1095)CAG>CTG p.Q365L MFSD8_uc011cgu.1_Missense_Mutation_p.Q320L|MFSD8_uc011cgv.1_Intron|MFSD8_uc011cgw.1_RNA NM_152778 NP_689991 Q8NHS3 MFSD8_HUMAN major facilitator superfamily domain containing 365 Extracellular (Potential). cell death|transmembrane transport integral to membrane|lysosomal membrane ovary(1)|liver(1) 2 ACCTTCCCACTGTATTTTGGG 0.368 NA 8 13 0 0 0.004482 0 0 PCDH10 57575 broad.mit.edu 37 4 134072994 134072994 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr4:134072994C>G uc003iha.2 + 1 2525 c.1699C>G c.(1699-1701)CAA>GAA p.Q567E uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.Q567E NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 567 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) CATAGTGGATCAAAATGACAA 0.637 NA 46 66 0 0 0.010771 0 0 SCOC 60592 broad.mit.edu 37 4 141302217 141302217 + Missense_Mutation SNP A A G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr4:141302217A>G uc003iif.2 + 4 466 c.439A>G c.(439-441)AGT>GGT p.S147G SCOC_uc003iib.2_Missense_Mutation_p.S110G|SCOC_uc011che.1_Missense_Mutation_p.S110G|SCOC_uc003iid.2_Missense_Mutation_p.S109G|SCOC_uc011chf.1_Missense_Mutation_p.S110G|SCOC_uc011chg.1_Missense_Mutation_p.S82G|SCOC_uc011chh.1_Missense_Mutation_p.S146G|SCOC_uc003iig.2_Missense_Mutation_p.S119G NM_001153484 NP_001146956 Q9UIL1 SCOC_HUMAN short coiled-coil protein isoform 1 147 Golgi apparatus|nucleus protein binding 0 all_hematologic(180;0.162) GTCAGCTTCTAGTGTTTTTCA 0.338 NA 6 11 0 0 0.001168 0 0 ZNF330 27309 broad.mit.edu 37 4 142143645 142143645 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr4:142143645G>T uc003iiq.3 + 2 340 c.120G>T c.(118-120)ATG>ATT p.M40I ZNF330_uc011chl.1_Missense_Mutation_p.W4L NM_014487 NP_055302 Q9Y3S2 ZN330_HUMAN zinc finger protein 330 40 chromosome, centromeric region|midbody|nucleolus protein binding|zinc ion binding 0 all_hematologic(180;0.162) ATGCCTCAATGGTATCAGCTT 0.363 NA 8 14 7.48243e-07 8.60894e-07 0.006214 1 0 INPP4B 8821 broad.mit.edu 37 4 143181690 143181690 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr4:143181690G>A uc003iix.3 - 12 1238 c.643C>T c.(643-645)CCG>TCG p.P215S INPP4B_uc003iiw.3_Missense_Mutation_p.P215S|INPP4B_uc011chm.1_RNA|INPP4B_uc011chn.1_Missense_Mutation_p.P30S|INPP4B_uc011cho.1_RNA|INPP4B_uc011chp.1_Missense_Mutation_p.P86S NM_003866 NP_003857 O15327 INP4B_HUMAN inositol polyphosphate-4-phosphatase, type II, 215 signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity ovary(1)|lung(1) 2 all_hematologic(180;0.158) ACACTTTCCGGGGCTGTACAT 0.274 NA 8 15 0 0 0.00308 0 0 PRMT10 90826 broad.mit.edu 37 4 148582162 148582162 + Silent SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr4:148582162G>T uc003ilc.2 - 7 1123 c.981C>A c.(979-981)ATC>ATA p.I327I PRMT10_uc003ilb.2_5'UTR|PRMT10_uc003ild.2_Silent_p.I214I NM_138364 NP_612373 Q6P2P2 ANM10_HUMAN protein arginine methyltransferase 10 327 cytoplasm binding|protein methyltransferase activity ovary(1)|central_nervous_system(1) 2 TTGGCAAATGGATACCAGCAA 0.373 NA 6 35 8.12818e-05 8.78788e-05 0.001984 1 0 LRBA 987 broad.mit.edu 37 4 151520208 151520208 + Silent SNP A A C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr4:151520208A>C uc010ipj.2 - 38 6471 c.5997T>G c.(5995-5997)CCT>CCG p.P1999P LRBA_uc003ilt.3_Silent_p.P658P|LRBA_uc003ilu.3_Silent_p.P1999P NM_006726 NP_006717 P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and 1999 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding ovary(3)|breast(3)|skin(1) 7 all_hematologic(180;0.151) TCGATCCTAGAGGGTTACGCA 0.502 NA 15 47 0 0 0.00245 0 0 NPY2R 4887 broad.mit.edu 37 4 156136166 156136166 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr4:156136166G>T uc003ioq.2 + 2 1570 c.1075G>T c.(1075-1077)GCT>TCT p.A359S NPY2R_uc003ior.2_Missense_Mutation_p.A359S NM_000910 NP_000901 P49146 NPY2R_HUMAN neuropeptide Y receptor Y2 359 Cytoplasmic (Potential). cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis integral to plasma membrane calcium channel regulator activity lung(2)|skin(1) 3 all_hematologic(180;0.24) Renal(120;0.0854) GACATTCAAGGCTAAAAAGAA 0.498 NA 9 28 0.000442599 0.000469777 0.006214 1 0 RAPGEF2 9693 broad.mit.edu 37 4 160259585 160259585 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr4:160259585C>T uc003iqg.3 + 12 2085 c.1775C>T c.(1774-1776)TCA>TTA p.S592L NM_014247 NP_055062 Q9Y4G8 RPGF2_HUMAN Rap guanine nucleotide exchange factor 2 592 cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity lung(2)|upper_aerodigestive_tract(1)|skin(1) 4 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.0817) TTATTGCAGTCACATCATCGC 0.383 NA 12 39 0 0 0.013537 0 0 ANP32C 23520 broad.mit.edu 37 4 165118606 165118606 + Silent SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr4:165118606G>A uc011cjk.1 - 1 258 c.258C>T c.(256-258)CTC>CTT p.L86L MARCH1_uc003iqs.1_Intron NM_012403 NP_036535 O43423 AN32C_HUMAN acidic nuclear phosphoprotein 32C 86 LRR 3. 0 all_hematologic(180;0.203) Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223) KIRC - Kidney renal clear cell carcinoma(143;0.242) ATAGATGCGTGAGGTTTGGAC 0.418 NA 24 64 0 0 0.00333 0 0 ADAM29 11086 broad.mit.edu 37 4 175898412 175898412 + Missense_Mutation SNP T T G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr4:175898412T>G uc003iuc.2 + 5 2406 c.1736T>G c.(1735-1737)ATA>AGA p.I579R ADAM29_uc003iud.2_Missense_Mutation_p.I579R|ADAM29_uc010irr.2_Missense_Mutation_p.I579R|ADAM29_uc011cki.1_Missense_Mutation_p.I579R NM_014269 NP_055084 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 preproprotein 579 Cys-rich.|Extracellular (Potential). proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1) 16 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) TTCAATGACATAATGTGCTGG 0.423 Ovarian(140;1727 1835 21805 25838 41440) NA 10 86 0 0 0.013537 0 0 IRX2 153572 broad.mit.edu 37 5 2748737 2748737 + Nonsense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr5:2748737G>C uc003jda.2 - 3 1327 c.1085C>G c.(1084-1086)TCA>TGA p.S362* IRX2_uc003jdb.2_Nonsense_Mutation_p.S362* NM_001134222 NP_001127694 Q9BZI1 IRX2_HUMAN iroquois homeobox 2 362 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(1) 1 GBM - Glioblastoma multiforme(108;0.204) TGCCCCGGTTGAggccggcgc 0.507 NA 3 11 0 0 0.001168 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5303476 5303476 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr5:5303476C>T uc003jdl.2 + 19 3023 c.2885C>T c.(2884-2886)TCG>TTG p.S962L ADAMTS16_uc003jdk.1_Missense_Mutation_p.S962L NM_139056 NP_620687 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 962 TSP type-1 3. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1) 8 CACTATGACTCGGAGCCAGTC 0.711 NA 4 5 0 0 0.000602 0 0 CMBL 134147 broad.mit.edu 37 5 10288575 10288575 + Silent SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr5:10288575G>A uc003jes.2 - 3 733 c.282C>T c.(280-282)TTC>TTT p.F94F NM_138809 NP_620164 Q96DG6 CMBL_HUMAN carboxymethylenebutenolidase 94 cytosol hydrolase activity|protein binding skin(1) 1 GCCACTCAGGGAAGATAGACC 0.507 NA 19 44 0 0 0.012319 0 0 CTNND2 1501 broad.mit.edu 37 5 11082809 11082809 + Silent SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr5:11082809G>T uc003jfa.1 - 16 2932 c.2787C>A c.(2785-2787)ATC>ATA p.I929I CTNND2_uc010itt.2_Silent_p.I838I|CTNND2_uc011cmy.1_Silent_p.I592I|CTNND2_uc011cmz.1_Silent_p.I496I|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Silent_p.I521I NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 929 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1) 8 AGAACATACCGATGAGCTCCT 0.507 NA 19 57 2.94398e-08 3.5067e-08 0.007413 1 0 FBXL7 23194 broad.mit.edu 37 5 15928326 15928326 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr5:15928326G>T uc003jfn.1 + 3 936 c.455G>T c.(454-456)CGG>CTG p.R152L NM_012304 NP_036436 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 152 F-box. ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity p.R152W(1) ovary(2)|lung(1) 3 TGGGACCCGCGGCTCTGGAGG 0.662 NA 5 12 1.6384e-10 2.01778e-10 0.001984 1 0 FBXL7 23194 broad.mit.edu 37 5 15936692 15936692 + Silent SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr5:15936692C>T uc003jfn.1 + 4 1354 c.873C>T c.(871-873)CAC>CAT p.H291H NM_012304 NP_036436 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 291 LRR 5. ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity ovary(2)|lung(1) 3 AAGGCCTGCACACCATCGCGG 0.622 NA 6 35 0 0 0.001168 0 0 CDH12 1010 broad.mit.edu 37 5 21760782 21760782 + Missense_Mutation SNP T T C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr5:21760782T>C uc010iuc.2 - 10 1976 c.1518A>G c.(1516-1518)ATA>ATG p.I506M CDH12_uc011cno.1_Missense_Mutation_p.I466M|CDH12_uc003jgk.2_Missense_Mutation_p.I506M|uc003jgj.2_Intron NM_004061 NP_004052 P55289 CAD12_HUMAN cadherin 12, type 2 preproprotein 506 Extracellular (Potential).|Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 CTATCTGAATTATCTGCAACA 0.403 NA HNSCC(59;0.17) 16 33 0 0 0.003163 0 0 CDH10 1008 broad.mit.edu 37 5 24593464 24593464 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr5:24593464C>A uc003jgr.1 - 2 468 c.136G>T c.(136-138)GGC>TGC p.G46C CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 46 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) AGAATTTTGCCATCACTCCTT 0.418 NA HNSCC(23;0.051) 7 22 0.00198382 0.00206488 0.001984 1 0 ADAMTS12 81792 broad.mit.edu 37 5 33527444 33527444 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr5:33527444G>A uc003jia.1 - 24 4797 c.4634C>T c.(4633-4635)TCA>TTA p.S1545L ADAMTS12_uc010iuq.1_Missense_Mutation_p.S1460L NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 1545 PLAC. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 GAAACTGGCTGACAGTTTGTC 0.438 NA HNSCC(64;0.19) 11 43 0 0 0.010729 0 0 SLC45A2 51151 broad.mit.edu 37 5 33947350 33947350 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr5:33947350C>T uc003jid.2 - 6 1378 c.1286G>A c.(1285-1287)AGC>AAC p.S429N SLC45A2_uc003jie.2_Missense_Mutation_p.S429N NM_016180 NP_057264 Q9UMX9 S45A2_HUMAN membrane-associated transporter protein isoform 429 Helical; Name=10; (Potential). melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception integral to membrane|melanosome membrane ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 ACCAAACAGGCTGCACAGGAC 0.507 Ovarian(31;380 859 8490 22203 49048) NA 27 107 0 0 0.005443 0 0 SPEF2 79925 broad.mit.edu 37 5 35654779 35654779 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr5:35654779G>C uc003jjo.2 + 7 1040 c.929G>C c.(928-930)AGA>ACA p.R310T SPEF2_uc003jjn.1_Missense_Mutation_p.R310T|SPEF2_uc003jjq.3_Missense_Mutation_p.R310T NM_024867 NP_079143 Q9C093 SPEF2_HUMAN KPL2 protein isoform 1 310 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity skin(2)|ovary(1)|central_nervous_system(1) 4 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AGGGAGAAAAGACGGCGGAAA 0.388 NA 6 31 0 0 0.001168 0 0 SPEF2 79925 broad.mit.edu 37 5 35776497 35776497 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr5:35776497G>T uc003jjo.2 + 29 4328 c.4217G>T c.(4216-4218)AGT>ATT p.S1406I SPEF2_uc003jjp.1_Missense_Mutation_p.S892I|SPEF2_uc003jjr.2_5'UTR NM_024867 NP_079143 Q9C093 SPEF2_HUMAN KPL2 protein isoform 1 1406 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity skin(2)|ovary(1)|central_nervous_system(1) 4 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GAAATGGCCAGGTAAAGTACT 0.308 NA 8 30 5.68852e-11 7.05961e-11 0.004482 1 0 C6 729 broad.mit.edu 37 5 41149361 41149361 + Missense_Mutation SNP C C A rs115220610 by1000genomes TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr5:41149361C>A uc003jmk.2 - 17 2815 c.2605G>T c.(2605-2607)GAC>TAC p.D869Y C6_uc003jml.1_Missense_Mutation_p.D869Y NM_000065 NP_000056 P13671 CO6_HUMAN complement component 6 precursor 869 Complement control factor I module 2.|C5b-binding domain. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding ovary(3)|central_nervous_system(2)|skin(2) 7 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) TTTTCCCAGTCATAGCAGGTG 0.423 NA 25 125 2.98393e-07 3.46613e-07 0.00278 1 0 C6 729 broad.mit.edu 37 5 41199909 41199909 + Nonsense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr5:41199909C>A uc003jmk.2 - 4 616 c.406G>T c.(406-408)GAA>TAA p.E136* C6_uc003jml.1_Nonsense_Mutation_p.E136* NM_000065 NP_000056 P13671 CO6_HUMAN complement component 6 precursor 136 complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding ovary(3)|central_nervous_system(2)|skin(2) 7 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) TCAGCCTCTTCAATTTTGCAG 0.428 NA 11 35 2.27111e-07 2.64023e-07 0.013537 1 0 PLCXD3 345557 broad.mit.edu 37 5 41381966 41381966 + Missense_Mutation SNP T T G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr5:41381966T>G uc003jmm.1 - 2 876 c.774A>C c.(772-774)AAA>AAC p.K258N NM_001005473 NP_001005473 Q63HM9 PLCX3_HUMAN phosphatidylinositol-specific phospholipase C, X 258 intracellular signal transduction|lipid catabolic process phospholipase C activity|signal transducer activity skin(2)|urinary_tract(1)|ovary(1)|lung(1)|central_nervous_system(1) 6 TTGCCACCCCTTTGACCACAG 0.358 NA 5 38 0 0 0.001168 0 0 MRPS30 10884 broad.mit.edu 37 5 44811251 44811251 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr5:44811251G>T uc003joh.2 + 2 780 c.742G>T c.(742-744)GCA>TCA p.A248S MRPS30_uc003joi.1_RNA NM_016640 NP_057724 Q9NP92 RT30_HUMAN mitochondrial ribosomal protein S30 248 apoptosis|translation mitochondrion|ribosome structural constituent of ribosome 0 Lung NSC(6;8.08e-07) CAAGCAACTCGCAGAGGTAAG 0.368 NA 5 26 0.000602214 0.000636401 0.000602 1 0 GPX8 493869 broad.mit.edu 37 5 54456044 54456044 + Silent SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr5:54456044G>A uc003jpq.2 + 1 61 c.24G>A c.(22-24)CCG>CCA p.P8P CDC20B_uc003jpn.1_Intron|CDC20B_uc010ivu.1_Intron|CDC20B_uc003jpo.1_Intron|CDC20B_uc010ivv.1_Intron|CDC20B_uc003jpp.2_Intron|GPX8_uc003jpr.2_Silent_p.P8P|GPX8_uc003jps.2_RNA|GPX8_uc003jpt.2_Silent_p.P8P NM_001008397 NP_001008398 Q8TED1 GPX8_HUMAN glutathione peroxidase 8 8 response to oxidative stress integral to membrane glutathione peroxidase activity 0 Glutathione(DB00143) CAGCTTACCCGCTAAAATGTT 0.443 NA 10 27 0 0 0.008291 0 0 SKIV2L2 23517 broad.mit.edu 37 5 54603803 54603803 + Translation_Start_Site SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr5:54603803C>G uc003jpy.3 + 1 228 c.-38C>G c.(-40--36)ATCGT>ATGGT SKIV2L2_uc011cqi.1_Translation_Start_Site|DHX29_uc003jpx.2_5'Flank|DHX29_uc010ivw.2_5'Flank NM_015360 NP_056175 P42285 SK2L2_HUMAN superkiller viralicidic activity 2-like 2 maturation of 5.8S rRNA catalytic step 2 spliceosome|nucleolus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding ovary(1)|skin(1) 2 Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194) CGCGGGGCATCGTGGGTAGGA 0.587 Melanoma(2;92 134 23744 29976 33782) NA 11 65 0 0 0.013537 0 0 SLC38A9 153129 broad.mit.edu 37 5 54960619 54960619 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr5:54960619G>A uc003jqf.2 - 8 800 c.599C>T c.(598-600)TCG>TTG p.S200L SLC38A9_uc003jqd.2_Missense_Mutation_p.S137L|SLC38A9_uc010ivx.2_Missense_Mutation_p.S173L|SLC38A9_uc003jqe.2_RNA|SLC38A9_uc010ivy.2_Missense_Mutation_p.S71L NM_173514 NP_775785 Q8NBW4 S38A9_HUMAN solute carrier family 38, member 9 200 Helical; (Potential). amino acid transport|sodium ion transport integral to membrane 0 Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181) AAGGAGACTCGACCACTGCCC 0.368 NA 3 25 0 0 0.009096 0 0 ANKRD55 79722 broad.mit.edu 37 5 55407437 55407437 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr5:55407437C>A uc003jqu.2 - 10 1290 c.1138G>T c.(1138-1140)GAC>TAC p.D380Y ANKRD55_uc003jqt.2_Missense_Mutation_p.D92Y NM_024669 NP_078945 Q3KP44 ANR55_HUMAN ankyrin repeat domain 55 isoform 1 379 skin(1) 1 Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223) GTGATGATGTCATTGACTTCT 0.463 NA 40 203 4.44401e-20 5.99694e-20 0.010771 1 0 TRIM23 373 broad.mit.edu 37 5 64910024 64910024 + Silent SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr5:64910024C>T uc003jty.2 - 3 353 c.267G>A c.(265-267)TTG>TTA p.L89L TRIM23_uc003jtw.2_Silent_p.L89L|TRIM23_uc003jtx.2_Silent_p.L89L NM_001656 NP_001647 P36406 TRI23_HUMAN ADP-ribosylation factor domain protein 1 isoform 89 interspecies interaction between organisms|small GTPase mediated signal transduction Golgi membrane|lysosomal membrane enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(3)|lung(1) 4 Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234) Lung(70;0.00473) AATTTTTTTTCAATCCCCAGA 0.353 NA 4 47 0 0 0.000602 0 0 BDP1 55814 broad.mit.edu 37 5 70806253 70806253 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr5:70806253G>A uc003kbp.1 + 17 3597 c.3334G>A c.(3334-3336)GGT>AGT p.G1112S BDP1_uc003kbn.1_Missense_Mutation_p.G1112S|BDP1_uc003kbo.2_Missense_Mutation_p.G1112S NM_018429 NP_060899 A6H8Y1 BDP1_HUMAN transcription factor-like nuclear regulator 1112 6.|9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T. regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding skin(2) 2 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) TAAGCCTCTAGGTGAAATGCA 0.433 NA 9 31 0 0 0.006214 0 0 DMGDH 29958 broad.mit.edu 37 5 78340326 78340326 + Silent SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr5:78340326G>A uc003kfs.2 - 6 801 c.795C>T c.(793-795)CTC>CTT p.L265L DMGDH_uc011cte.1_Silent_p.L115L|DMGDH_uc011ctf.1_Silent_p.L64L|DMGDH_uc011ctg.1_Intron NM_013391 NP_037523 Q9UI17 M2GD_HUMAN dimethylglycine dehydrogenase precursor 265 choline metabolic process|glycine catabolic process mitochondrial matrix aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity ovary(2)|liver(1)|skin(1) 4 all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192) OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35) GAACCGGAATGAGAGGATGTT 0.373 NA 13 32 0 0 0.013537 0 0 BHMT 635 broad.mit.edu 37 5 78422045 78422045 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr5:78422045C>A uc003kfu.3 + 6 907 c.802C>A c.(802-804)CCA>ACA p.P268T BHMT_uc011cti.1_Missense_Mutation_p.P115T NM_001713 NP_001704 Q93088 BHMT1_HUMAN betaine-homocysteine methyltransferase 268 Hcy-binding. protein methylation|regulation of homocysteine metabolic process cytoplasm betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding ovary(1) 1 all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36) L-Methionine(DB00134) CCCAGAATTCCCATTTGGTAA 0.433 NA 7 31 1.06961e-07 1.25857e-07 0.00308 1 0 SPZ1 84654 broad.mit.edu 37 5 79616095 79616095 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr5:79616095C>G uc003kgn.2 + 1 306 c.61C>G c.(61-63)CCT>GCT p.P21A uc011ctk.1_RNA NM_032567 NP_115956 Q9BXG8 SPZ1_HUMAN spermatogenic leucine zipper 1 21 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding ovary(1) 1 Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113) OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36) TAACCCTACTCCTGATCCTCA 0.473 NA 31 135 0 0 0.013726 0 0 ANKRD34B 340120 broad.mit.edu 37 5 79855043 79855043 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr5:79855043C>T uc010jam.2 - 4 1146 c.796G>A c.(796-798)GAG>AAG p.E266K ANKRD34B_uc003kgw.2_Missense_Mutation_p.E266K|ANKRD34B_uc010jan.2_Missense_Mutation_p.E266K NM_001004441 NP_001004441 A5PLL1 AN34B_HUMAN ankyrin repeat domain 34B 266 cytoplasm|nucleus pancreas(1) 1 Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113) OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36) TGGAGCTCCTCTTGCAATGAA 0.517 NA 7 52 0 0 0.001984 0 0 PJA2 9867 broad.mit.edu 37 5 108714382 108714382 + Missense_Mutation SNP T T A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr5:108714382T>A uc003kos.3 - 4 1026 c.806A>T c.(805-807)CAA>CTA p.Q269L NM_014819 NP_055634 O43164 PJA2_HUMAN praja 2, RING-H2 motif containing 269 long-term memory|regulation of protein kinase A signaling cascade cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding ovary(1)|skin(1) 2 all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151) OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224) ATTATTTTGTTGTTTCGTACT 0.403 NA 13 46 0 0 0.013537 0 0 EPB41L4A 64097 broad.mit.edu 37 5 111519791 111519791 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr5:111519791C>A uc003kpv.1 - 18 1818 c.1544G>T c.(1543-1545)TGG>TTG p.W515L EPB41L4A_uc003kpp.1_Missense_Mutation_p.W142L NM_022140 NP_071423 Q9HCS5 E41LA_HUMAN erythrocyte protein band 4.1-like 4 515 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding ovary(1) 1 all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135) OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791) TACAGCTTCCCACTGAGGCGC 0.453 NA 9 34 0.00829132 0.00852017 0.008291 1 0 MCC 4163 broad.mit.edu 37 5 112406907 112406907 + Silent SNP T T C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr5:112406907T>C uc003kqj.3 - 10 1769 c.1239A>G c.(1237-1239)CAA>CAG p.Q413Q MCC_uc003kqk.3_RNA|MCC_uc003kql.3_Silent_p.Q603Q|MCC_uc011cwb.1_Silent_p.Q413Q|MCC_uc010jcd.1_Silent_p.Q375Q NM_002387 NP_002378 P23508 CRCM_HUMAN mutated in colorectal cancers isoform 2 413 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane protein binding|receptor activity ovary(1) 1 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) GGAGGTCATTTTGGGATTTGA 0.428 NA 26 92 0 0 0.005443 0 0 FEM1C 56929 broad.mit.edu 37 5 114879140 114879140 + Silent SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr5:114879140C>A uc003krb.1 - 2 613 c.51G>T c.(49-51)CGG>CGT p.R17R NM_020177 NP_064562 Q96JP0 FEM1C_HUMAN feminization 1 homolog a 17 ANK 1. cytoplasm breast(2)|ovary(1) 3 all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195) OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05) TGGTGAGAAGCCGGAGTTTGC 0.468 NA 12 48 5.50884e-06 6.16718e-06 0.013537 1 0 AQPEP 206338 broad.mit.edu 37 5 115298888 115298888 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr5:115298888C>A uc003kro.2 + 1 738 c.574C>A c.(574-576)CTC>ATC p.L192I AQPEP_uc003krp.2_RNA|uc003krn.1_5'UTR NM_173800 NP_776161 Q6Q4G3 AMPQ_HUMAN laeverin 192 Lumenal (Potential). proteolysis integral to membrane metallopeptidase activity|zinc ion binding 0 GGTGCTGGAGCTCAGTGAGCC 0.632 NA 8 23 0.000274275 0.000292399 0.004482 1 0 FBN2 2201 broad.mit.edu 37 5 127728854 127728854 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr5:127728854C>A uc003kuu.2 - 10 1878 c.1439G>T c.(1438-1440)GGA>GTA p.G480V FBN2_uc003kuv.2_Missense_Mutation_p.G447V NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 480 bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) AGGTCCCTGTCCCCCGGCCCC 0.512 NA 18 77 9.7654e-05 0.000105501 0.007413 1 0 TRPC7 57113 broad.mit.edu 37 5 135651315 135651315 + Silent SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr5:135651315G>T uc003lbn.1 - 2 933 c.930C>A c.(928-930)ATC>ATA p.I310I TRPC7_uc010jef.1_Silent_p.I302I|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Intron|TRPC7_uc010jei.1_Intron|TRPC7_uc010jej.1_Intron NM_020389 NP_065122 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, 311 Cytoplasmic (Potential). axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TGGCGAGTTTGATCCGGCTCA 0.517 NA 7 23 1.12685e-05 1.25378e-05 0.004482 1 0 ANKHD1-EIF4EBP3 404734 broad.mit.edu 37 5 139909060 139909060 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr5:139909060G>T uc003lfs.1 + 29 6653 c.6529G>T c.(6529-6531)GTG>TTG p.V2177L ANKHD1_uc003lfr.2_Missense_Mutation_p.V2177L|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.V916L|ANKHD1_uc003lfw.2_Missense_Mutation_p.V815L|ANKHD1_uc010jfl.2_Missense_Mutation_p.V612L|ANKHD1-EIF4EBP3_uc003lfx.1_Missense_Mutation_p.V314L NM_020690 NP_065741 Q8IWZ2 Q8IWZ2_HUMAN ANKHD1-EIF4EBP3 protein 2177 cytoplasm|nucleus RNA binding ovary(6) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACCAGCTGCAGTGCAGCTTTC 0.443 NA 25 99 4.26978e-12 5.40045e-12 0.00333 1 0 PCDHA4 56144 broad.mit.edu 37 5 140189081 140189081 + Missense_Mutation SNP T T C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr5:140189081T>C uc003lhi.2 + 1 2410 c.2309T>C c.(2308-2310)ATG>ACG p.M770T PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.M770T|PCDHA4_uc011daa.1_Missense_Mutation_p.M770T NM_018907 NP_061730 Q9UN74 PCDA4_HUMAN protocadherin alpha 4 isoform 1 precursor 770 Cytoplasmic (Potential).|6 X 4 AA repeats of P-X-X-P. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(4)|skin(2) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACCGACCTCATGGCCTTCAGC 0.562 NA 25 74 0 0 0.003954 0 0 PCDHAC1 56135 broad.mit.edu 37 5 140308879 140308879 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr5:140308879G>A uc003lih.2 + 1 2578 c.2402G>A c.(2401-2403)AGG>AAG p.R801K PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lig.1_Missense_Mutation_p.R801K NM_018898 NP_061721 Q9H158 PCDC1_HUMAN protocadherin alpha subfamily C, 1 isoform 1 801 Cytoplasmic (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding skin(3)|ovary(2) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATTCGGAATAGGAAAGGGGAT 0.448 NA 15 57 0 0 0.006122 0 0 PCDHB4 56131 broad.mit.edu 37 5 140501728 140501728 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr5:140501728G>C uc003lip.1 + 1 148 c.148G>C c.(148-150)GAT>CAT p.D50H NM_018938 NP_061761 Q9Y5E5 PCDB4_HUMAN protocadherin beta 4 precursor 50 Cadherin 1.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCTGGCCAAGGATCTGGGCCT 0.542 NA 8 59 0 0 0.00308 0 0 PCDHB5 26167 broad.mit.edu 37 5 140515957 140515957 + Missense_Mutation SNP A A C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr5:140515957A>C uc003liq.2 + 1 1158 c.941A>C c.(940-942)TAT>TCT p.Y314S NM_015669 NP_056484 Q9Y5E4 PCDB5_HUMAN protocadherin beta 5 precursor 314 Cadherin 3.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding skin(3)|ovary(2) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACTCCATATTATAACGTGGAA 0.453 NA 25 111 0 0 0.007291 0 0 PCDHB5 26167 broad.mit.edu 37 5 140516601 140516601 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr5:140516601C>T uc003liq.2 + 1 1802 c.1585C>T c.(1585-1587)CGC>TGC p.R529C NM_015669 NP_056484 Q9Y5E4 PCDB5_HUMAN protocadherin beta 5 precursor 529 Extracellular (Potential).|Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding skin(3)|ovary(2) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GTTCGAGTTCCGCGTGGGAGC 0.682 NA 27 77 0 0 0.004656 0 0 PCDHB8 56128 broad.mit.edu 37 5 140558439 140558439 + Missense_Mutation SNP A A G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr5:140558439A>G uc011dai.1 + 1 1010 c.824A>G c.(823-825)AAC>AGC p.N275S PCDHB16_uc003liv.2_5'Flank NM_019120 NP_061993 Q9UN66 PCDB8_HUMAN protocadherin beta 8 precursor 275 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding skin(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACAGGAGTCAACGGAGAGATT 0.423 NA 30 78 0 0 0.007291 0 0 PCDHB8 56128 broad.mit.edu 37 5 140559471 140559471 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr5:140559471G>T uc011dai.1 + 1 2042 c.1856G>T c.(1855-1857)TGG>TTG p.W619L PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank NM_019120 NP_061993 Q9UN66 PCDB8_HUMAN protocadherin beta 8 precursor 619 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding skin(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTCGGTGTGTGGGCGCACAAT 0.692 NA 16 76 9.17885e-22 1.24791e-21 0.003271 1 0 PCDHB9 56127 broad.mit.edu 37 5 140567886 140567886 + Missense_Mutation SNP A A T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr5:140567886A>T uc003liw.1 + 1 994 c.994A>T c.(994-996)ACA>TCA p.T332S NM_019119 NP_061992 Q9Y5E1 PCDB9_HUMAN protocadherin beta 9 precursor 332 Extracellular (Potential).|Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGCAAGATGTACAGTTTTGAT 0.368 NA 7 30 0 0 0.00308 0 0 SLC25A2 83884 broad.mit.edu 37 5 140683365 140683366 + Missense_Mutation DNP CA CA TT TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 CA CA - - CA CA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr5:140683365_140683366CA>TT uc003ljf.2 - 1 247_248 c.67_68TG>AA c.(67-69)TGT>AAT p.C23N NM_031947 NP_114153 Q9BXI2 ORNT2_HUMAN solute carrier family 25 member 2 23 Helical; Name=1; (Potential).|Solcar 1. mitochondrial ornithine transport|urea cycle integral to membrane|mitochondrial inner membrane L-ornithine transmembrane transporter activity ovary(1) 1 all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.00204) L-Ornithine(DB00129) AGTCAGTACACACGCTGTCCCC 0.599 NA 8 50 0 0 0.004672 0 0 PCDHGB3 56102 broad.mit.edu 37 5 140751805 140751805 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr5:140751805G>T uc003ljw.1 + 1 1844 c.1844G>T c.(1843-1845)GGG>GTG p.G615V PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Missense_Mutation_p.G615V|PCDHGA6_uc011dau.1_5'Flank NM_018924 NP_061747 Q9Y5G1 PCDGF_HUMAN protocadherin gamma subfamily B, 3 isoform 1 615 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCGAGCCCGGGCTGTTCAGC 0.687 NA 16 88 1.15088e-07 1.34873e-07 0.004007 1 0 PCDHGA7 56108 broad.mit.edu 37 5 140762481 140762481 + Silent SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr5:140762481G>C uc003lka.1 + 1 15 c.15G>C c.(13-15)CCG>CCC p.P5P PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Silent_p.P5P NM_018920 NP_061743 Q9Y5G6 PCDG7_HUMAN protocadherin gamma subfamily A, 7 isoform 1 5 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGGCTCAGCCGAGGGGCGGGG 0.612 NA OREG0016858 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 86 0 0 0.004007 0 0 PCDHGB6 56100 broad.mit.edu 37 5 140788971 140788971 + Missense_Mutation SNP A A T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr5:140788971A>T uc003lkj.1 + 1 1202 c.1202A>T c.(1201-1203)TAC>TTC p.Y401F PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lki.1_Missense_Mutation_p.Y401F NM_018926 NP_061749 Q9Y5F9 PCDGI_HUMAN protocadherin gamma subfamily B, 6 isoform 1 401 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCAATAACTACTACAAACTG 0.458 NA 13 33 0 0 0.013537 0 0 PCDHGB6 56100 broad.mit.edu 37 5 140789165 140789165 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr5:140789165C>G uc003lkj.1 + 1 1396 c.1396C>G c.(1396-1398)CCG>GCG p.P466A PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lki.1_Missense_Mutation_p.P466A NM_018926 NP_061749 Q9Y5F9 PCDGI_HUMAN protocadherin gamma subfamily B, 6 isoform 1 466 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGAGAACAACCCGCCAGGAGC 0.567 NA 10 44 0 0 0.006214 0 0 PCDHGA12 26025 broad.mit.edu 37 5 140811320 140811320 + Missense_Mutation SNP A A G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr5:140811320A>G uc003lkt.1 + 1 1163 c.994A>G c.(994-996)AAA>GAA p.K332E PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.K332E NM_003735 NP_003726 O60330 PCDGC_HUMAN protocadherin gamma subfamily A, 12 isoform 1 332 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|pancreas(1)|skin(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCGCGAGCCAAAGTCCTGAT 0.517 NA 22 76 0 0 0.00278 0 0 PCDHGC4 56098 broad.mit.edu 37 5 140864842 140864842 + Silent SNP G G T rs77402299 TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr5:140864842G>T uc003lky.1 + 1 102 c.102G>T c.(100-102)CCG>CCT p.P34P PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lkv.1_Intron|PCDHGC3_uc003lkw.1_Intron|PCDHGC4_uc011dbb.1_Silent_p.P34P NM_018928 NP_061751 Q9Y5F7 PCDGL_HUMAN protocadherin gamma subfamily C, 4 isoform 1 34 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCGCTACCCGGTCCCAGAGG 0.557 NA 15 56 1.15088e-07 1.34873e-07 0.004007 1 0 PCDH1 5097 broad.mit.edu 37 5 141233739 141233739 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr5:141233739G>C uc003llp.2 - 5 3699 c.3582C>G c.(3580-3582)TTC>TTG p.F1194L NM_032420 NP_115796 Q08174 PCDH1_HUMAN protocadherin 1 isoform 2 precursor Error:Variant_position_missing_in_Q08174_after_alignment cell-cell signaling|homophilic cell adhesion|nervous system development cell-cell junction|integral to plasma membrane calcium ion binding ovary(5) 5 Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;1.06e-05) TACTGTGGGAGAAGGCACTGT 0.677 Ovarian(132;1609 1739 4190 14731 45037) NA 6 15 0 0 0.001168 0 0 KIAA0141 9812 broad.mit.edu 37 5 141318258 141318258 + Silent SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr5:141318258C>T uc003lls.2 + 12 1604 c.1482C>T c.(1480-1482)TCC>TCT p.S494S KIAA0141_uc003llt.2_Silent_p.S494S|KIAA0141_uc003llu.1_RNA NM_001142603 NP_001136075 Q14154 DELE_HUMAN hypothetical protein LOC9812 precursor 494 TPR 7. apoptosis|regulation of caspase activity mitochondrion protein binding skin(1) 1 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGAAGCCTCCAGCAGGGCTA 0.567 NA 11 103 0 0 0.010729 0 0 LARS 51520 broad.mit.edu 37 5 145537160 145537160 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr5:145537160C>A uc003lnx.1 - 10 1109 c.871G>T c.(871-873)GCT>TCT p.A291S LARS_uc011dbq.1_Missense_Mutation_p.A245S|LARS_uc011dbr.1_Missense_Mutation_p.A237S|LARS_uc011dbs.1_Missense_Mutation_p.A264S NM_020117 NP_064502 Q9P2J5 SYLC_HUMAN leucyl-tRNA synthetase 291 Editing domain. leucyl-tRNA aminoacylation cytosol ATP binding|leucine-tRNA ligase activity|protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) L-Leucine(DB00149) AGAGTAGCAGCCACCAAGAAA 0.373 NA 7 21 2.0095e-06 2.28488e-06 0.001984 1 0 LARS 51520 broad.mit.edu 37 5 145537167 145537167 + Silent SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr5:145537167G>A uc003lnx.1 - 10 1102 c.864C>T c.(862-864)TTC>TTT p.F288F LARS_uc011dbq.1_Silent_p.F242F|LARS_uc011dbr.1_Silent_p.F234F|LARS_uc011dbs.1_Silent_p.F261F NM_020117 NP_064502 Q9P2J5 SYLC_HUMAN leucyl-tRNA synthetase 288 Editing domain. leucyl-tRNA aminoacylation cytosol ATP binding|leucine-tRNA ligase activity|protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) L-Leucine(DB00149) CAGCCACCAAGAAAATATTTT 0.378 NA 6 19 0 0 0.001168 0 0 ARHGEF37 389337 broad.mit.edu 37 5 149001437 149001437 + Missense_Mutation SNP A A T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr5:149001437A>T uc003lra.1 + 9 1211 c.1147A>T c.(1147-1149)AGT>TGT p.S383C NM_001001669 NP_001001669 A1IGU5 ARH37_HUMAN hypothetical protein LOC389337 383 BAR. regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity 0 GGAGGTGGGCAGTGTGACCTA 0.592 NA 21 58 0 0 0.00278 0 0 PDE6A 5145 broad.mit.edu 37 5 149274852 149274852 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr5:149274852G>T uc003lrg.3 - 13 1742 c.1622C>A c.(1621-1623)GCC>GAC p.A541D NM_000440 NP_000431 P16499 PDE6A_HUMAN phosphodiesterase 6A 541 cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception cytosol|plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) CCGCACCAGGGCCTGTGAACA 0.542 NA 7 36 0.00198382 0.00206488 0.001984 1 0 CSF1R 1436 broad.mit.edu 37 5 149433914 149433914 + Nonsense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr5:149433914C>A uc003lrl.2 - 20 2929 c.2734G>T c.(2734-2736)GAG>TAG p.E912* CSF1R_uc011dcd.1_Intron|CSF1R_uc010jhc.2_RNA|CSF1R_uc003lrm.2_Nonsense_Mutation_p.E912* NM_005211 NP_005202 P07333 CSF1R_HUMAN colony stimulating factor 1 receptor precursor 912 Cytoplasmic (Potential). cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|receptor complex ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity haematopoietic_and_lymphoid_tissue(38)|lung(6)|central_nervous_system(3)|liver(3)|breast(2)|endometrium(1)|ovary(1) 54 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) Imatinib(DB00619)|Sunitinib(DB01268) TGGGCCTGCTCCTGAAGGAAG 0.612 NA 21 75 1.9806e-07 2.31548e-07 0.014323 1 0 TCOF1 6949 broad.mit.edu 37 5 149749093 149749093 + Silent SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr5:149749093G>A uc003lry.2 + 6 675 c.567G>A c.(565-567)GGG>GGA p.G189G TCOF1_uc003lrw.2_Silent_p.G189G|TCOF1_uc011dch.1_Silent_p.G189G|TCOF1_uc003lrz.2_Silent_p.G189G|TCOF1_uc003lrx.2_Silent_p.G189G|TCOF1_uc003lsa.2_Silent_p.G189G NM_001135243 NP_001128715 Q13428 TCOF_HUMAN Treacher Collins-Franceschetti syndrome 1 189 skeletal system development nucleolus protein binding|transporter activity ovary(2)|large_intestine(1) 3 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GATCCTCAGGGATGGTGTCAG 0.627 NA 16 49 0 0 0.007413 0 0 FAT2 2196 broad.mit.edu 37 5 150924904 150924904 + Silent SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr5:150924904C>A uc003lue.3 - 9 5797 c.5784G>T c.(5782-5784)CTG>CTT p.L1928L GM2A_uc011dcs.1_Intron NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 1928 Extracellular (Potential). epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AAGCAGGATTCAGCACAGATA 0.478 NA 25 85 1.64293e-13 2.1111e-13 0.00333 1 0 G3BP1 10146 broad.mit.edu 37 5 151170615 151170615 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr5:151170615G>T uc003lun.2 + 4 514 c.343G>T c.(343-345)GCT>TCT p.A115S G3BP1_uc010jhy.1_Missense_Mutation_p.A115S|G3BP1_uc003lum.2_Missense_Mutation_p.A115S|G3BP1_uc011dcu.1_5'UTR|G3BP1_uc010jhz.2_5'UTR NM_005754 NP_005745 Q13283 G3BP1_HUMAN Ras-GTPase-activating protein SH3-domain-binding 115 NTF2. Ras protein signal transduction|transport cytosol|nucleus|plasma membrane ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding skin(3)|ovary(1) 4 all_hematologic(541;0.0338)|Medulloblastoma(196;0.091) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) GTTTGTCCTTGCTCCTGAGGT 0.393 NA 8 36 5.18039e-06 5.81293e-06 0.00308 1 0 GALNT10 55568 broad.mit.edu 37 5 153796519 153796519 + Missense_Mutation SNP T T G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr5:153796519T>G uc003lvh.2 + 12 1931 c.1799T>G c.(1798-1800)TTC>TGC p.F600C GALNT10_uc010jic.2_RNA|GALNT10_uc010jid.2_Missense_Mutation_p.F441C|uc003lvi.2_Intron|GALNT10_uc003lvj.2_Missense_Mutation_p.F271C NM_198321 NP_938080 Q86SR1 GLT10_HUMAN GalNAc transferase 10 isoform a 600 Lumenal (Potential). Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding skin(2) 2 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21) Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577) TTGGAAAAATTCAATAGGAAC 0.542 NA 19 59 0 0 0.007413 0 0 HAVCR1 26762 broad.mit.edu 37 5 156482498 156482498 + Silent SNP A A G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr5:156482498A>G uc010jij.1 - 3 278 c.93T>C c.(91-93)TCT>TCC p.S31S HAVCR1_uc011ddl.1_5'Flank|HAVCR1_uc003lwi.2_Silent_p.S31S|HAVCR1_uc011ddm.1_Silent_p.S31S NM_001099414 NP_001092884 Q96D42 HAVR1_HUMAN hepatitis A virus cellular receptor 1 31 Extracellular (Potential).|Ig-like V-type. interspecies interaction between organisms integral to membrane receptor activity ovary(1)|skin(1) 2 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GTAGTGTGACAGATGGACCTG 0.453 NA 4 15 0 0 0.000602 0 0 THG1L 54974 broad.mit.edu 37 5 157158442 157158442 + Translation_Start_Site SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr5:157158442G>A uc003lxd.2 + 1 120 c.-6G>A c.(-8--4)GCGTG>GCATG THG1L_uc011ddu.1_Translation_Start_Site NM_017872 NP_060342 Q9NWX6 THG1_HUMAN interphase cytoplasmic foci protein 45 protein homotetramerization|tRNA modification mitochondrion GTP binding|metal ion binding|tRNA guanylyltransferase activity 0 Renal(175;0.00488) Medulloblastoma(196;0.0523) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TCCTTTCCGCGTGTAGAATGT 0.562 NA 11 29 0 0 0.010729 0 0 DOCK2 1794 broad.mit.edu 37 5 169267790 169267790 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr5:169267790C>G uc003maf.2 + 27 2813 c.2733C>G c.(2731-2733)ATC>ATG p.I911M DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.I403M NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 911 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) TCCAGGAGATCATGGTCCAGC 0.473 NA 3 30 0 0 0.004672 0 0 NKX2-5 1482 broad.mit.edu 37 5 172659655 172659655 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr5:172659655C>A uc003mcm.1 - 2 1068 c.892G>T c.(892-894)GGG>TGG p.G298W NM_004387 NP_004378 P52952 NKX25_HUMAN NK2 transcription factor related, locus 5 298 adult heart development|atrial cardiac muscle cell development|atrial septum morphogenesis|heart looping|hemopoiesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell apoptosis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|outflow tract septum morphogenesis|pharyngeal system development|positive regulation of calcium ion transport via voltage-gated calcium channel activity|positive regulation of cardioblast differentiation|positive regulation of cell proliferation|positive regulation of heart contraction|positive regulation of neuron differentiation|positive regulation of sodium ion transport|positive regulation of survival gene product expression|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of cardiac muscle contraction|right ventricular cardiac muscle tissue morphogenesis|septum secundum development|spleen development|thyroid gland development|vasculogenesis|ventricular septum morphogenesis chromatin binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding central_nervous_system(1) 1 Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) TTCAAGTCCCCGACGCCGAAG 0.667 Esophageal Squamous(72;810 1219 2387 13420 44943) NA 11 37 3.07112e-06 3.46216e-06 0.010729 1 0 HRH2 3274 broad.mit.edu 37 5 175111256 175111256 + Silent SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr5:175111256G>C uc003mdd.2 + 1 2793 c.1020G>C c.(1018-1020)CTG>CTC p.L340L HRH2_uc003mdc.3_Silent_p.L340L NM_022304 NP_071640 P25021 HRH2_HUMAN histamine receptor H2 isoform 2 340 Cytoplasmic (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|immune response integral to plasma membrane histamine receptor activity ovary(1) 1 all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711) Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149) Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863) AGAAACCCCTGAAGCTCCAGG 0.592 NA 9 106 0 0 0.006214 0 0 GPRIN1 114787 broad.mit.edu 37 5 176025235 176025235 + Missense_Mutation SNP T T A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr5:176025235T>A uc003meo.1 - 2 1776 c.1601A>T c.(1600-1602)AAG>ATG p.K534M NM_052899 NP_443131 Q7Z2K8 GRIN1_HUMAN G protein-regulated inducer of neurite outgrowth 534 growth cone|plasma membrane ovary(2) 2 all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GGGAGCCGCCTTTCCAGAGGC 0.662 NA 27 60 0 0 0.010818 0 0 CLK4 57396 broad.mit.edu 37 5 178040602 178040602 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr5:178040602C>G uc003mjf.1 - 7 806 c.698G>C c.(697-699)GGT>GCT p.G233A CLK4_uc003mjg.1_Missense_Mutation_p.G197A|CLK4_uc010jku.1_Missense_Mutation_p.G53A|CLK4_uc003mjh.1_Missense_Mutation_p.G53A|CLK4_uc010jkv.1_RNA|CLK4_uc011dgg.1_Missense_Mutation_p.G233A|CLK4_uc011dgh.1_Missense_Mutation_p.G53A NM_020666 NP_065717 Q9HAZ1 CLK4_HUMAN CDC-like kinase 4 233 Protein kinase. nucleus ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(1) 1 all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918) all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.235) ACAAACATGACCATGATGATC 0.348 NA 10 35 0 0 0.006214 0 0 ZFP2 80108 broad.mit.edu 37 5 178358866 178358866 + Silent SNP A A G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr5:178358866A>G uc003mjn.1 + 5 1061 c.552A>G c.(550-552)AAA>AAG p.K184K ZFP2_uc010jky.2_Silent_p.K184K|ZFP2_uc010jkx.1_Silent_p.K184K NM_030613 NP_085116 Q6ZN57 ZFP2_HUMAN zinc finger protein 2 homolog 184 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111) CCGGAGAGAAACCCTATCAGT 0.398 NA 3 25 0 0 0.000602 0 0 ZNF354C 30832 broad.mit.edu 37 5 178506897 178506897 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr5:178506897G>C uc003mju.2 + 5 1579 c.1464G>C c.(1462-1464)AGG>AGC p.R488S NM_014594 NP_055409 Q86Y25 Z354C_HUMAN zinc finger protein 354C 488 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309) all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.247) AACATGAGAGGATCCACACTG 0.393 NA 9 26 0 0 0.004482 0 0 HNRNPH1 3187 broad.mit.edu 37 5 179044535 179044535 + Nonsense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr5:179044535G>C uc003mkf.3 - 9 1143 c.1037C>G c.(1036-1038)TCA>TGA p.S346* HNRNPH1_uc011dgn.1_Nonsense_Mutation_p.S76*|HNRNPH1_uc003mkg.3_Nonsense_Mutation_p.S254*|HNRNPH1_uc003mke.3_Nonsense_Mutation_p.S346*|HNRNPH1_uc003mkh.3_Nonsense_Mutation_p.S346* NM_005520 NP_005511 P31943 HNRH1_HUMAN heterogeneous nuclear ribonucleoprotein H1 346 RRM 3.|2 X 16 AA Gly-rich approximate repeats. regulation of RNA splicing actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|poly(U) RNA binding|protein binding 0 TTTGTCTTTTGACATAGCTGC 0.408 NA 5 74 0 0 0.001168 0 0 OR2Y1 134083 broad.mit.edu 37 5 180166157 180166157 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr5:180166157C>A uc003mmf.1 - 1 902 c.902G>T c.(901-903)TGG>TTG p.W301L NM_001001657 NP_001001657 Q8NGV0 OR2Y1_HUMAN olfactory receptor, family 2, subfamily Y, 301 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114) all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TAGTACTTTCCACAGAGCCCC 0.418 NA 18 89 1.33834e-09 1.62889e-09 0.007413 1 0 OR2V2 285659 broad.mit.edu 37 5 180581966 180581966 + Silent SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr5:180581966C>A uc011dhj.1 + 1 24 c.24C>A c.(22-24)TCC>TCA p.S8S NM_206880 NP_996763 Q96R30 OR2V2_HUMAN olfactory receptor, family 2, subfamily V, 8 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1) 2 all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TGAACCAGTCCTACACAGATG 0.507 NA 22 62 1.55469e-16 2.06157e-16 0.00333 1 0 OR2V2 285659 broad.mit.edu 37 5 180582444 180582444 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr5:180582444C>T uc011dhj.1 + 1 502 c.502C>T c.(502-504)CCC>TCC p.P168S NM_206880 NP_996763 Q96R30 OR2V2_HUMAN olfactory receptor, family 2, subfamily V, 168 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1) 2 all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AATGAATTTCCCCTACTGTGG 0.473 NA 29 143 0 0 0.007291 0 0 OR2V2 285659 broad.mit.edu 37 5 180582654 180582654 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr5:180582654G>T uc011dhj.1 + 1 712 c.712G>T c.(712-714)GCC>TCC p.A238S NM_206880 NP_996763 Q96R30 OR2V2_HUMAN olfactory receptor, family 2, subfamily V, 238 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1) 2 all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CTGGAAAAAGGCCCTGGCCAC 0.572 NA 16 62 1.37285e-15 1.80234e-15 0.004007 1 0 HUS1B 135458 broad.mit.edu 37 6 656540 656540 + Silent SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr6:656540C>A uc003mtg.2 - 1 425 c.405G>T c.(403-405)CGG>CGT p.R135R EXOC2_uc003mtd.2_Intron|EXOC2_uc003mte.2_Intron|EXOC2_uc011dho.1_Intron NM_148959 NP_683762 Q8NHY5 HUS1B_HUMAN HUS1 checkpoint protein B 135 0 Ovarian(93;0.0733) Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965) TGGGAAGCACCCGCACGGGCA 0.731 NA 52 29 1.74971e-23 2.39677e-23 0.01441 1 0 GMDS 2762 broad.mit.edu 37 6 1930451 1930451 + Silent SNP A A T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr6:1930451A>T uc003mtq.2 - 7 847 c.657T>A c.(655-657)GTT>GTA p.V219V NM_001500 NP_001491 O60547 GMDS_HUMAN GDP-mannose 4,6-dehydratase 219 'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion coenzyme binding|GDP-mannose 4,6-dehydratase activity central_nervous_system(1) 1 Ovarian(93;0.0733) all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802) Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563) TTTTTCGAGTAACGAAATTAG 0.433 NA 33 18 0 0 0.010818 0 0 CDYL 9425 broad.mit.edu 37 6 4892412 4892412 + Nonsense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr6:4892412G>T uc003mwi.2 + 4 783 c.652G>T c.(652-654)GAG>TAG p.E218* CDYL_uc003mwj.2_Nonsense_Mutation_p.E164*|CDYL_uc003mwk.2_Intron|CDYL_uc011dhx.1_Nonsense_Mutation_p.E32*|CDYL_uc011dhy.1_Nonsense_Mutation_p.E32* NM_001143971 NP_001137443 Q9Y232 CDYL1_HUMAN chromodomain protein, Y chromosome-like isoform 218 regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus histone acetyltransferase activity 0 Ovarian(93;0.11) all_hematologic(90;0.0901)|Lung NSC(90;0.244) OV - Ovarian serous cystadenocarcinoma(45;0.182) CGAGAGCCCTGAGAAACTGGA 0.597 NA 16 23 2.31682e-05 2.54658e-05 0.003163 1 0 NEDD9 4739 broad.mit.edu 37 6 11185641 11185641 + Silent SNP T T A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr6:11185641T>A uc003mzv.2 - 7 2426 c.2259A>T c.(2257-2259)GCA>GCT p.A753A NEDD9_uc010joz.2_Silent_p.A753A|NEDD9_uc003mzw.3_Silent_p.A607A NM_006403 NP_006394 Q14511 CASL_HUMAN neural precursor cell expressed, developmentally 753 Divergent helix-loop-helix motif. actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus protein binding 0 Breast(50;0.0768)|Ovarian(93;0.152) all_hematologic(90;0.135) Epithelial(50;0.0647)|all cancers(50;0.179) CCAGTTTGTGTGCACTGAGGA 0.547 NA 60 57 0 0 0.01441 0 0 CD83 9308 broad.mit.edu 37 6 14131775 14131775 + Missense_Mutation SNP A A T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr6:14131775A>T uc003nbi.2 + 3 356 c.178A>T c.(178-180)ATG>TTG p.M60L CD83_uc003nbh.2_Missense_Mutation_p.M60L NM_004233 NP_004224 Q01151 CD83_HUMAN CD83 antigen isoform a 60 Extracellular (Potential).|Ig-like V-type. defense response|humoral immune response|signal transduction integral to plasma membrane 0 Breast(50;0.00245)|Ovarian(93;0.137) all_hematologic(90;0.117) TGAAGAGAGGATGGAGACACC 0.507 NA 22 20 0 0 0.012319 0 0 MYLIP 29116 broad.mit.edu 37 6 16143378 16143378 + Nonsense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr6:16143378C>T uc003nbq.2 + 4 829 c.592C>T c.(592-594)CAG>TAG p.Q198* MYLIP_uc003nbr.2_Nonsense_Mutation_p.Q17* NM_013262 NP_037394 Q8WY64 MYLIP_HUMAN myosin regulatory light chain interacting 198 FERM. cellular component movement|nervous system development cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding pancreas(1) 1 Breast(50;0.0799)|Ovarian(93;0.103) all_hematologic(90;0.0895) Epithelial(50;0.241) TAGCGAAGGGCAGAAACTGCT 0.443 NA 6 56 0 0 0.001984 0 0 HIST1H2BI 8346 broad.mit.edu 37 6 26273408 26273408 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr6:26273408G>A uc003nhk.2 + 1 205 c.205G>A c.(205-207)GAC>AAC p.D69N HIST1H3G_uc003nhi.2_5'Flank NM_003525 NP_003516 P62807 H2B1C_HUMAN histone cluster 1, H2bi 69 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding 0 CTTCGTCAACGACATTTTCGA 0.567 NA 38 170 0 0 0.003755 0 0 HMGN4 10473 broad.mit.edu 37 6 26545530 26545530 + Silent SNP A A G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr6:26545530A>G uc003nig.2 + 2 334 c.96A>G c.(94-96)CCA>CCG p.P32P NM_006353 NP_006344 O00479 HMGN4_HUMAN high mobility group nucleosomal binding domain 32 chromatin|nucleus DNA binding 0 CTGCTAAACCAGCTCCTCCAA 0.502 NA 21 26 0 0 0.008871 0 0 ZNF184 7738 broad.mit.edu 37 6 27420806 27420806 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr6:27420806G>A uc003njj.2 - 5 1343 c.532C>T c.(532-534)CCT>TCT p.P178S ZNF184_uc010jqv.2_Missense_Mutation_p.P178S|ZNF184_uc003nji.2_Missense_Mutation_p.P178S NM_007149 NP_009080 Q99676 ZN184_HUMAN zinc finger protein 184 178 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TTATTTACAGGGCCTTTTTCC 0.403 NA 58 66 0 0 0.01441 0 0 HIST1H3H 8357 broad.mit.edu 37 6 27777984 27777984 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr6:27777984G>A uc003njm.2 + 1 143 c.133G>A c.(133-135)GGT>AGT p.G45S HIST1H2BL_uc003njl.2_5'Flank NM_003536 NP_003527 P68431 H31_HUMAN histone cluster 1, H3h 45 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding ovary(1) 1 CTATCGGCCTGGTACAGTGGC 0.652 NA 4 57 0 0 0.000602 0 0 ZNF165 7718 broad.mit.edu 37 6 28056879 28056879 + Silent SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr6:28056879G>A uc003nkg.2 + 5 2173 c.1089G>A c.(1087-1089)CAG>CAA p.Q363Q ZNF165_uc003nkh.2_Silent_p.Q363Q|ZNF165_uc003nki.3_Silent_p.Q363Q|ZSCAN12P1_uc003nkj.3_5'Flank NM_003447 NP_003438 P49910 ZN165_HUMAN zinc finger protein 165 363 C2H2-type 2. viral reproduction nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 CTAGGCATCAGAGAATCCACA 0.433 NA 6 23 0 0 0.001984 0 0 ZNF311 282890 broad.mit.edu 37 6 28963357 28963357 + Silent SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr6:28963357C>T uc003nlu.2 - 7 1935 c.1422G>A c.(1420-1422)GAG>GAA p.E474E ZNF311_uc011dlk.1_Silent_p.E382E|ZNF311_uc003nlv.2_Silent_p.E382E NM_001010877 NP_001010877 Q5JNZ3 ZN311_HUMAN zinc finger protein 311 474 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding 0 TCCCACACTCCTCACACCTGT 0.493 NA 28 33 0 0 0.00632 0 0 C2 717 broad.mit.edu 37 6 31901508 31901508 + Silent SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr6:31901508G>A uc003nyf.2 + 4 828 c.564G>A c.(562-564)GAG>GAA p.E188E C2_uc003nyc.2_Missense_Mutation_p.S20N|C2_uc011doo.1_Missense_Mutation_p.S20N|C2_uc011dop.1_Silent_p.E65E|C2_uc003nye.3_Silent_p.E188E|C2_uc010jtk.2_Silent_p.E56E|C2_uc011doq.1_Silent_p.E159E|C2_uc003nyg.2_Silent_p.E56E|CFB_uc011dor.1_Silent_p.E126E NM_000063 NP_000054 P06681 CO2_HUMAN complement component 2 isoform 1 preproprotein 188 Sushi 3. complement activation, classical pathway|innate immune response|proteolysis extracellular space serine-type endopeptidase activity ovary(1)|skin(1) 2 Ovarian(999;0.00965) LUAD - Lung adenocarcinoma(999;0.247) GGTCTTCGGAGCGGGAGTGCC 0.647 NA 45 44 0 0 0.013114 0 0 SKIV2L 6499 broad.mit.edu 37 6 31927146 31927146 + Missense_Mutation SNP T T A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr6:31927146T>A uc003nyn.1 + 2 484 c.95T>A c.(94-96)CTG>CAG p.L32Q RDBP_uc003nyk.2_5'Flank|RDBP_uc011dot.1_5'Flank|RDBP_uc003nyl.1_5'Flank|RDBP_uc003nym.1_5'Flank|MIR1236_hsa-mir-1236|MI0006326_5'Flank|SKIV2L_uc011dou.1_5'UTR|SKIV2L_uc011dov.1_5'UTR NM_006929 NP_008860 Q15477 SKIV2_HUMAN superkiller viralicidic activity 2-like homolog 32 nucleus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1) 4 CACTGGGAGCTGCTGAACTTG 0.587 NA 173 168 0 0 0.01441 0 0 TNXB 7148 broad.mit.edu 37 6 32017941 32017941 + Silent SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr6:32017941C>A uc003nzl.2 - 27 9469 c.9267G>T c.(9265-9267)CTG>CTT p.L3089L NM_019105 NP_061978 P22105 TENX_HUMAN tenascin XB isoform 1 precursor 3136 Fibronectin type-III 23. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding 0 TGTACTGGACCAGGAAGTGGT 0.642 NA 35 62 3.62531e-18 4.84264e-18 0.004289 1 0 TNXB 7148 broad.mit.edu 37 6 32037579 32037579 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr6:32037579C>T uc003nzl.2 - 15 5540 c.5338G>A c.(5338-5340)GAG>AAG p.E1780K NM_019105 NP_061978 P22105 TENX_HUMAN tenascin XB isoform 1 precursor 1862 Fibronectin type-III 11. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding 0 TGCAGCTCCTCCCCCAGACGG 0.577 NA 9 24 0 0 0.006214 0 0 TAP2 6891 broad.mit.edu 37 6 32805830 32805830 + Missense_Mutation SNP A A C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr6:32805830A>C uc003occ.2 - 1 212 c.181T>G c.(181-183)TTT>GTT p.F61V TAP2_uc011dqf.1_Missense_Mutation_p.F61V|TAP2_uc003ocb.1_Missense_Mutation_p.F61V|TAP2_uc003ocd.2_Missense_Mutation_p.F61V NM_018833 NP_061313 Q03519 TAP2_HUMAN transporter 2, ATP-binding cassette, sub-family 61 Helical; Name=2; (Potential). antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity nucleus|plasma membrane|TAP complex ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding 0 GTCCCCACAAATCCCAGCAGC 0.667 NA 17 91 0 0 0.004007 0 0 TAPBP 6892 broad.mit.edu 37 6 33272866 33272866 + Silent SNP G G A rs145473025 TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr6:33272866G>A uc003odx.1 - 4 939 c.768C>T c.(766-768)TTC>TTT p.F256F TAPBP_uc010jus.1_Silent_p.F274F|TAPBP_uc003ody.2_Silent_p.F256F|TAPBP_uc003odz.2_Silent_p.F256F|TAPBP_uc010jut.1_Silent_p.F169F|TAPBP_uc011drc.1_Silent_p.F256F NM_003190 NP_003181 O15533 TPSN_HUMAN tapasin isoform 1 precursor 256 Lumenal (Potential). antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|MHC class I peptide loading complex|microsome MHC class I protein binding|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|unfolded protein binding ovary(1) 1 TAGGCAGCCAGAAGGTCCCAT 0.582 NA 24 114 0 0 0.005443 0 0 NUDT3 11165 broad.mit.edu 37 6 34263448 34263448 + Silent SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr6:34263448C>G uc003ojl.2 - 3 527 c.225G>C c.(223-225)GGG>GGC p.G75G NM_006703 NP_006694 O95989 NUDT3_HUMAN nudix-type motif 3 75 Nudix hydrolase. G->A: Loss of function. cell-cell signaling|diadenosine polyphosphate catabolic process|diphosphoinositol polyphosphate catabolic process cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|magnesium ion binding 0 TTCCCAATGTCCCTTTTACTC 0.308 GBM(96;1206 1939 18658 39482) NA 8 28 0 0 0.004482 0 0 SLC26A8 116369 broad.mit.edu 37 6 35927260 35927260 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr6:35927260C>T uc003olm.2 - 16 1951 c.1840G>A c.(1840-1842)GAT>AAT p.D614N SLC26A8_uc010jwa.2_RNA|SLC26A8_uc003olk.2_Missense_Mutation_p.D196N|SLC26A8_uc003oln.2_Missense_Mutation_p.D614N|SLC26A8_uc003oll.2_Missense_Mutation_p.D509N NM_052961 NP_443193 Q96RN1 S26A8_HUMAN solute carrier family 26, member 8 isoform a 614 STAS.|Cytoplasmic (Potential). cell differentiation|meiosis|multicellular organismal development|spermatogenesis integral to membrane|plasma membrane anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity ovary(2) 2 TCCAGATCATCACAGTTGCAG 0.363 NA 13 62 0 0 0.001855 0 0 GLO1 2739 broad.mit.edu 37 6 38670747 38670747 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr6:38670747C>A uc003ooc.2 - 1 206 c.84G>T c.(82-84)AAG>AAT p.K28N NM_006708 NP_006699 Q04760 LGUL_HUMAN glyoxalase I 28 anti-apoptosis|carbohydrate metabolic process cytoplasm lactoylglutathione lyase activity|metal ion binding ovary(1) 1 Glutathione(DB00143) CTGTGCCCACCTTGGTACTGG 0.721 NA 15 16 2.61681e-11 3.27271e-11 0.00245 1 0 TSPO2 222642 broad.mit.edu 37 6 41010795 41010795 + Missense_Mutation SNP G G A rs148297848 byFrequency TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr6:41010795G>A uc003opj.2 + 2 372 c.71G>A c.(70-72)CGT>CAT p.R24H UNC5CL_uc010jxe.1_Intron|TSPO2_uc003opk.2_Missense_Mutation_p.V34M|TSPO2_uc011dub.1_Missense_Mutation_p.R24H NM_001010873 NP_001010873 Q5TGU0 TSPO2_HUMAN benzodiazapine receptor (peripheral)-like 1 24 transport endoplasmic reticulum membrane|integral to membrane cholesterol binding|receptor activity 0 CTGTTCACTCGTGATCACATG 0.552 NA 68 73 0 0 0.01441 0 0 KIAA0240 23506 broad.mit.edu 37 6 42796998 42796998 + Silent SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr6:42796998C>T uc003osn.1 + 6 1078 c.927C>T c.(925-927)GTC>GTT p.V309V KIAA0240_uc003osm.1_Silent_p.V309V|KIAA0240_uc011duw.1_Silent_p.V309V|KIAA0240_uc003oso.1_Silent_p.V309V|KIAA0240_uc003osp.1_Silent_p.V309V NM_015349 NP_056164 Q6AI39 K0240_HUMAN hypothetical protein LOC23506 309 ovary(1) 1 Colorectal(47;0.196) Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104) CAAATAAAGTCCCAATTAATA 0.388 NA 17 132 0 0 0.00499 0 0 PEX6 5190 broad.mit.edu 37 6 42934376 42934376 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr6:42934376C>T uc003otf.2 - 10 2074 c.1981G>A c.(1981-1983)GAG>AAG p.E661K PEX6_uc010jya.2_RNA NM_000287 NP_000278 Q13608 PEX6_HUMAN peroxisomal biogenesis factor 6 661 protein import into peroxisome matrix, translocation|protein stabilization cytosol|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding ovary(1) 1 all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562) TCATCCTCCTCAGTCAAGCCA 0.597 NA 8 192 0 0 0.006214 0 0 CAPN11 11131 broad.mit.edu 37 6 44144038 44144038 + Missense_Mutation SNP T T A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr6:44144038T>A uc003owt.1 + 9 1002 c.964T>A c.(964-966)TGG>AGG p.W322R CAPN11_uc011dvn.1_5'Flank NM_007058 NP_008989 Q9UMQ6 CAN11_HUMAN calpain 11 322 Calpain catalytic. proteolysis acrosomal vesicle calcium ion binding|calcium-dependent cysteine-type endopeptidase activity ovary(1)|breast(1) 2 all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) CCGGAATCCCTGGGGCCGGAT 0.597 NA 29 30 0 0 0.012213 0 0 GPR115 221393 broad.mit.edu 37 6 47684541 47684541 + Splice_Site SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr6:47684541G>T uc003oza.1 + 7 2191 c.1933_splice c.e7-1 p.G645_splice GPR115_uc003oyz.1_Splice_Site_p.G702_splice|GPR115_uc003ozb.1_Splice_Site_p.G643_splice NM_153838 NP_722580 Q8IZF3 GP115_HUMAN G-protein coupled receptor 115 precursor neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1) 8 TTTTGCCACAGGGTTTTTTCA 0.393 GBM(22;431 510 9010 26644 32828) NA 20 23 2.37509e-13 3.0465e-13 0.010504 1 0 PGK2 5232 broad.mit.edu 37 6 49754596 49754596 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr6:49754596G>C uc003ozu.2 - 1 412 c.305C>G c.(304-306)GCA>GGA p.A102G NM_138733 NP_620061 P07205 PGK2_HUMAN phosphoglycerate kinase 2 102 glycolysis cytosol ATP binding|phosphoglycerate kinase activity p.A102S(1) ovary(1) 1 Lung NSC(77;0.0402) CTCCACTTCTGCGCCTACACA 0.532 NA 41 38 0 0 0.006999 0 0 DST 667 broad.mit.edu 37 6 56401663 56401663 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr6:56401663G>C uc003pdf.2 - 56 10355 c.10327C>G c.(10327-10329)CAG>GAG p.Q3443E DST_uc003pcz.3_Missense_Mutation_p.Q3265E|DST_uc011dxj.1_Missense_Mutation_p.Q3294E|DST_uc011dxk.1_Missense_Mutation_p.Q3305E|DST_uc003pcy.3_Missense_Mutation_p.Q2939E NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 5351 Spectrin 7. 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) GCAGCACTCTGAATAAGGCCT 0.423 NA 7 51 0 0 0.00308 0 0 BAI3 577 broad.mit.edu 37 6 69640530 69640530 + Silent SNP A A G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr6:69640530A>G uc003pev.3 + 4 1285 c.837A>G c.(835-837)CAA>CAG p.Q279Q BAI3_uc010kak.2_Silent_p.Q279Q NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 279 Extracellular (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1) 50 all_lung(197;0.212) CTCAGGAACAAGCTGATGCTG 0.333 NA 3 9 0 0 0.004672 0 0 BAI3 577 broad.mit.edu 37 6 69758130 69758130 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr6:69758130C>G uc003pev.3 + 14 2609 c.2161C>G c.(2161-2163)CCA>GCA p.P721A BAI3_uc010kak.2_Missense_Mutation_p.P721A NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 721 Extracellular (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1) 50 all_lung(197;0.212) CATCAACTTTCCAATGAAAGG 0.363 NA 15 6 0 0 0.004007 0 0 COL9A1 1297 broad.mit.edu 37 6 71004033 71004033 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr6:71004033G>A uc003pfg.3 - 5 692 c.533C>T c.(532-534)TCC>TTC p.S178F NM_001851 NP_001842 P20849 CO9A1_HUMAN alpha 1 type IX collagen isoform 1 precursor 178 Nonhelical region (NC4).|TSP N-terminal. axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding ovary(4) 4 ATGCCACTGGGAATCAAACAA 0.423 NA 21 70 0 0 0.010504 0 0 RNGTT 8732 broad.mit.edu 37 6 89638909 89638909 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr6:89638909G>C uc003pmr.2 - 3 472 c.252C>G c.(250-252)ATC>ATG p.I84M RNGTT_uc003pms.2_Missense_Mutation_p.I84M|RNGTT_uc011dzu.1_Missense_Mutation_p.I24M|RNGTT_uc003pmt.2_Missense_Mutation_p.I84M NM_003800 NP_003791 O60942 MCE1_HUMAN RNA guanylyltransferase and 5'-phosphatase 84 TPase. interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction nucleoplasm GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity upper_aerodigestive_tract(1) 1 all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05) BRCA - Breast invasive adenocarcinoma(108;0.151) TTATATATTTGATTCCTTCTT 0.269 NA 4 14 0 0 0.000602 0 0 GABRR1 2569 broad.mit.edu 37 6 89890150 89890150 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr6:89890150G>C uc003pna.2 - 9 1462 c.1007C>G c.(1006-1008)CCG>CGG p.P336R GABRR1_uc011dzv.1_Missense_Mutation_p.P313R NM_002042 NP_002033 P24046 GBRR1_HUMAN gamma-aminobutyric acid (GABA) receptor, rho 1 336 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity pancreas(1) 1 all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114) BRCA - Breast invasive adenocarcinoma(108;0.00917) Picrotoxin(DB00466) GGAGACGCGCGGCATGGAGGC 0.507 NA 28 43 0 0 0.012213 0 0 UBE2J1 51465 broad.mit.edu 37 6 90039433 90039433 + Silent SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr6:90039433G>A uc010kcb.2 - 9 1095 c.922C>T c.(922-924)CTG>TTG p.L308L UBE2J1_uc003pnc.2_Silent_p.L308L NM_016021 NP_057105 Q9Y385 UB2J1_HUMAN ubiquitin-conjugating enzyme E2, J1 308 Lumenal (Potential). endoplasmic reticulum membrane|integral to membrane ATP binding|ubiquitin-protein ligase activity 0 all_cancers(76;1.65e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;2.5e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0139) TCGTTTGCCAGATATATTCGT 0.403 NA 19 17 0 0 0.008871 0 0 BACH2 60468 broad.mit.edu 37 6 90642323 90642323 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr6:90642323G>T uc011eab.1 - 9 3139 c.2330C>A c.(2329-2331)CCC>CAC p.P777H BACH2_uc003pnw.2_Missense_Mutation_p.P777H NM_021813 NP_068585 Q9BYV9 BACH2_HUMAN BTB and CNC homology 1, basic leucine zipper 777 nucleus protein dimerization activity|sequence-specific DNA binding ovary(3)|pancreas(1)|lung(1)|skin(1) 6 all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063) BRCA - Breast invasive adenocarcinoma(108;0.0799) GGGGGGTCCGGGGGGAGCCGC 0.632 NA 54 47 2.31418e-15 3.03266e-15 0.01441 1 0 EPHA7 2045 broad.mit.edu 37 6 94068026 94068026 + Missense_Mutation SNP A A C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr6:94068026A>C uc003poe.2 - 4 1177 c.936T>G c.(934-936)TGT>TGG p.C312W EPHA7_uc003pof.2_Missense_Mutation_p.C312W|EPHA7_uc011eac.1_Missense_Mutation_p.C312W NM_004440 NP_004431 Q15375 EPHA7_HUMAN ephrin receptor EphA7 precursor 312 Extracellular (Potential).|Cys-rich. integral to plasma membrane ATP binding|ephrin receptor activity lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1) 28 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) ACCCATCTTCACATTCACATC 0.458 NA 4 21 0 0 0.009096 0 0 KIAA0776 23376 broad.mit.edu 37 6 96997630 96997631 + Missense_Mutation DNP GG GG TT TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr6:96997630_96997631GG>TT uc003por.2 + 15 1821_1822 c.1773_1774GG>TT c.(1771-1776)TCGGAT>TCTTAT p.D592Y KIAA0776_uc010kck.2_RNA NM_015323 NP_056138 O94874 UFL1_HUMAN hypothetical protein LOC23376 592 negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation endoplasmic reticulum|nucleus protein binding|UFM1 conjugating enzyme activity ovary(1) 1 all_cancers(76;5.83e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0604)|Colorectal(196;0.0721) BRCA - Breast invasive adenocarcinoma(108;0.0934) TCTTAGCTTCGGATTTAATGAT 0.396 NA 11 20 0 0 0.004672 0 0 CCNC 892 broad.mit.edu 37 6 99997442 99997442 + Silent SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr6:99997442C>T uc003pqe.2 - 9 827 c.540G>A c.(538-540)GTG>GTA p.V180V uc003pqc.2_Intron|CCNC_uc003pqd.2_Silent_p.V95V|CCNC_uc010kcr.2_RNA|CCNC_uc010kcs.2_Silent_p.V179V|CCNC_uc011eah.1_Silent_p.V95V NM_005190 NP_005181 P24863 CCNC_HUMAN cyclin C isoform a 180 regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA-directed RNA polymerase II, holoenzyme protein kinase binding 0 all_cancers(76;8.46e-06)|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;0.064) AGGTATCATTCACTATCCTCC 0.363 GBM(57;273 1020 40094 44454 49348) NA 4 7 0 0 0.009096 0 0 NR2E1 7101 broad.mit.edu 37 6 108502082 108502082 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr6:108502082G>T uc003psg.2 + 7 1566 c.811G>T c.(811-813)GTG>TTG p.V271L NM_003269 NP_003260 Q9Y466 NR2E1_HUMAN nuclear receptor subfamily 2, group E, member 1 271 Ligand-binding (By similarity). regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding central_nervous_system(1)|skin(1) 2 all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637) BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689) TTTACAAGAGGTGGTGGCTCG 0.423 NA 37 46 4.62619e-21 6.26023e-21 0.004289 1 0 FIG4 9896 broad.mit.edu 37 6 110098260 110098260 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr6:110098260G>A uc003ptt.2 + 16 2101 c.1886G>A c.(1885-1887)AGA>AAA p.R629K FIG4_uc011eau.1_Missense_Mutation_p.R352K NM_014845 NP_055660 Q92562 FIG4_HUMAN Sac domain-containing inositol phosphatase 3 629 cell death endosome membrane protein binding ovary(1) 1 all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548) OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079) CCAACAAGAAGAAGGTATTTT 0.353 NA 6 15 0 0 0.001168 0 0 RSPH4A 345895 broad.mit.edu 37 6 116949479 116949479 + Silent SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr6:116949479C>T uc003pxe.2 + 3 1754 c.1609C>T c.(1609-1611)CTA>TTA p.L537L RSPH4A_uc010kee.2_Silent_p.L537L NM_001010892 NP_001010892 Q5TD94 RSH4A_HUMAN radial spoke head 4 homolog A isoform 1 537 Glu-rich. cilium axoneme assembly|cilium movement cytoplasm|cytoskeleton|radial spoke 0 AGTGATTGATCTAGTAGAATC 0.428 NA Kartagener_syndrome 13 53 0 0 0.00245 0 0 NKAIN2 154215 broad.mit.edu 37 6 124676442 124676442 + Silent SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr6:124676442G>T uc003pzo.2 + 3 499 c.222G>T c.(220-222)ACG>ACT p.T74T NKAIN2_uc003pzn.1_Silent_p.T74T|NKAIN2_uc003pzp.2_Silent_p.T73T|NKAIN2_uc010keq.2_Silent_p.T74T|NKAIN2_uc010ker.2_5'UTR NM_001040214 NP_001035304 Q5VXU1 NKAI2_HUMAN T-cell lymphoma breakpoint-associated target 1 74 Helical; (Potential). integral to membrane|plasma membrane 0 GBM - Glioblastoma multiforme(226;0.104) TCTGGGTTACGTGGAATGTGT 0.388 NA 31 41 3.86903e-22 5.27496e-22 0.013726 1 0 C6orf174 387104 broad.mit.edu 37 6 127796797 127796797 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr6:127796797G>A uc003qbd.2 - 6 3239 c.2374C>T c.(2374-2376)CTC>TTC p.L792F C6orf174_uc003qbc.2_5'UTR NM_001012279 NP_001012279 Q5TF21 CF174_HUMAN hypothetical protein LOC387104 precursor 792 integral to membrane breast(3)|ovary(2)|skin(1) 6 GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161) GTGGGCGTGAGGCAGCGGATG 0.697 NA 43 36 0 0 0.00874 0 0 LAMA2 3908 broad.mit.edu 37 6 129649547 129649547 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr6:129649547C>T uc003qbn.2 + 29 4406 c.4301C>T c.(4300-4302)TCG>TTG p.S1434L LAMA2_uc003qbo.2_Missense_Mutation_p.S1434L NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 1434 Laminin EGF-like 15. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) CCTGAAACATCGATATGCCAG 0.537 NA 43 58 0 0 0.011902 0 0 TMEM200A 114801 broad.mit.edu 37 6 130762590 130762590 + Silent SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr6:130762590C>A uc003qca.2 + 3 1894 c.1023C>A c.(1021-1023)GTC>GTA p.V341V TMEM200A_uc010kfh.2_Silent_p.V341V|TMEM200A_uc010kfi.2_Silent_p.V341V|TMEM200A_uc003qcb.2_Silent_p.V341V NM_052913 NP_443145 Q86VY9 T200A_HUMAN transmembrane protein 200A 341 Cytoplasmic (Potential). integral to membrane ovary(1) 1 GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12) TCCAGCCCGTCAGCACAGTGC 0.498 NA 6 41 5.9392e-07 6.8551e-07 0.001168 1 0 TMEM200A 114801 broad.mit.edu 37 6 130762655 130762655 + Missense_Mutation SNP T T C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr6:130762655T>C uc003qca.2 + 3 1959 c.1088T>C c.(1087-1089)ATG>ACG p.M363T TMEM200A_uc010kfh.2_Missense_Mutation_p.M363T|TMEM200A_uc010kfi.2_Missense_Mutation_p.M363T|TMEM200A_uc003qcb.2_Missense_Mutation_p.M363T NM_052913 NP_443145 Q86VY9 T200A_HUMAN transmembrane protein 200A 363 Cytoplasmic (Potential). integral to membrane ovary(1) 1 GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12) AAGTCATCTATGGCTCTCGGA 0.527 NA 8 35 0 0 0.00308 0 0 PDE7B 27115 broad.mit.edu 37 6 136512860 136512860 + Missense_Mutation SNP A A T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr6:136512860A>T uc003qgp.2 + 13 1538 c.1235A>T c.(1234-1236)CAG>CTG p.Q412L uc003qgq.1_Intron|PDE7B_uc003qgr.2_Missense_Mutation_p.Q464L NM_018945 NP_061818 Q9NP56 PDE7B_HUMAN phosphodiesterase 7B 412 signal transduction|synaptic transmission cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding ovary(1) 1 Colorectal(23;0.24) OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147) Dyphylline(DB00651)|Ketotifen(DB00920) AACAAGGCCCAGTGGAAGAGC 0.637 NA 7 13 0 0 0.00308 0 0 BCLAF1 9774 broad.mit.edu 37 6 136594296 136594296 + Silent SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr6:136594296G>A uc003qgx.1 - 7 2135 c.1882C>T c.(1882-1884)CTA>TTA p.L628L BCLAF1_uc003qgw.1_Silent_p.L455L|BCLAF1_uc003qgy.1_Silent_p.L626L|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Silent_p.L626L NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 isoform 628 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding ovary(1) 1 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) CGCTCGTTTAGGGTCATTGCA 0.408 Colon(142;1534 1789 5427 7063 28491) NA 3 87 0 0 0.009096 0 0 SHPRH 257218 broad.mit.edu 37 6 146256096 146256096 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr6:146256096C>A uc003qlf.2 - 13 3336 c.2937G>T c.(2935-2937)CAG>CAT p.Q979H SHPRH_uc003qld.2_Missense_Mutation_p.Q979H|SHPRH_uc003qle.2_Missense_Mutation_p.Q979H|SHPRH_uc003qlg.1_Missense_Mutation_p.Q535H|SHPRH_uc003qlj.1_Missense_Mutation_p.Q868H|SHPRH_uc003qlh.2_5'Flank NM_001042683 NP_001036148 Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase isoform a 979 DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding ovary(1)|kidney(1)|central_nervous_system(1) 3 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) GACAGCAGGCCTGTCTGAGCC 0.443 NA 20 20 1.56452e-12 1.98922e-12 0.007413 1 0 SASH1 23328 broad.mit.edu 37 6 148846478 148846478 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr6:148846478G>T uc003qme.1 + 11 1736 c.1261G>T c.(1261-1263)GGC>TGC p.G421C SASH1_uc011eeb.1_Missense_Mutation_p.G182C|SASH1_uc003qmf.1_5'UTR NM_015278 NP_056093 O94885 SASH1_HUMAN SAM and SH3 domain containing 1 421 protein binding central_nervous_system(1) 1 Ovarian(120;0.0169) OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701) TCTGCACGTTGGCAGTAATAA 0.423 NA 46 61 1.5774e-09 1.91824e-09 0.01441 1 0 C6orf211 79624 broad.mit.edu 37 6 151789697 151789697 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr6:151789697G>T uc003qok.1 + 5 1037 c.778G>T c.(778-780)GTT>TTT p.V260F C6orf211_uc011ees.1_Missense_Mutation_p.V141F NM_024573 NP_078849 Q9H993 CF211_HUMAN hypothetical protein LOC79624 260 protein binding 0 BRCA - Breast invasive adenocarcinoma(37;0.183) OV - Ovarian serous cystadenocarcinoma(155;5.27e-11) ATTTGAGCTTGTTACAGATTT 0.358 NA 50 43 2.29192e-23 3.13358e-23 0.01441 1 0 TIAM2 26230 broad.mit.edu 37 6 155500537 155500537 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr6:155500537C>A uc003qqb.2 + 14 3927 c.2654C>A c.(2653-2655)CCA>CAA p.P885Q TIAM2_uc003qqe.2_Missense_Mutation_p.P885Q|TIAM2_uc010kjj.2_Missense_Mutation_p.P418Q|TIAM2_uc003qqf.2_Missense_Mutation_p.P261Q|TIAM2_uc011efl.1_Missense_Mutation_p.P221Q|TIAM2_uc003qqg.2_Missense_Mutation_p.P197Q NM_012454 NP_036586 Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 885 apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity ovary(3)|breast(1) 4 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) GAAGTCTTTCCACTAAATGTT 0.373 NA 26 34 8.24728e-16 1.0847e-15 0.004656 1 0 SNX9 51429 broad.mit.edu 37 6 158342655 158342655 + Nonsense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr6:158342655G>T uc003qqv.1 + 10 1215 c.1042G>T c.(1042-1044)GAA>TAA p.E348* NM_016224 NP_057308 Q9Y5X1 SNX9_HUMAN sorting nexin 9 348 PX. 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) CTCAGAAAGTGAAGTTTTCCA 0.438 NA 8 16 0.00621372 0.00639427 0.006214 1 0 IGF2R 3482 broad.mit.edu 37 6 160510217 160510217 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr6:160510217G>T uc003qta.2 + 43 6547 c.6399G>T c.(6397-6399)CAG>CAT p.Q2133H NM_000876 NP_000867 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor precursor 2133 14.|Lumenal (Potential). receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity ovary(3) 3 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) AGGAGGTGCAGATGGTGAATG 0.502 NA 19 29 3.32936e-07 3.86121e-07 0.006122 1 0 THBS2 7058 broad.mit.edu 37 6 169632775 169632775 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr6:169632775G>T uc003qwt.2 - 13 2164 c.1916C>A c.(1915-1917)GCC>GAC p.A639D NM_003247 NP_003238 P35442 TSP2_HUMAN thrombospondin 2 precursor 639 EGF-like 2; calcium-binding (Potential). cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity ovary(5) 5 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) TTCCGTCTTGGCTGCTTCCAG 0.597 Esophageal Squamous(91;219 1934 18562 44706) NA 44 57 1.89013e-27 2.62126e-27 0.01441 1 0 TBP 6908 broad.mit.edu 37 6 170871103 170871103 + Silent SNP G G A rs149441883 TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr6:170871103G>A uc003qxt.2 + 3 511 c.279G>A c.(277-279)CAG>CAA p.Q93Q TBP_uc003qxu.2_Silent_p.Q93Q|TBP_uc011ehf.1_Silent_p.Q73Q|TBP_uc011ehg.1_Silent_p.Q93Q NM_003194 NP_003185 P20226 TBP_HUMAN TATA box binding protein 93 Poly-Gln. Missing. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding ovary(1) 1 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcagcagcagcaacaggcag 0.229 NA 4 45 0 0 0.000602 0 0 INTS1 26173 broad.mit.edu 37 7 1519959 1519959 + Silent SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr7:1519959G>A uc003skn.2 - 30 4169 c.4068C>T c.(4066-4068)TTC>TTT p.F1356F NM_001080453 NP_001073922 Q8N201 INT1_HUMAN integrator complex subunit 1 1356 snRNA processing integral to membrane|integrator complex|nuclear membrane 0 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) CTACCTGGAGGAACATGCCAG 0.662 NA 5 18 0 0 0.000602 0 0 INTS1 26173 broad.mit.edu 37 7 1523686 1523686 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr7:1523686C>G uc003skn.2 - 25 3483 c.3382G>C c.(3382-3384)GTG>CTG p.V1128L INTS1_uc003skp.1_Missense_Mutation_p.V475L NM_001080453 NP_001073922 Q8N201 INT1_HUMAN integrator complex subunit 1 1128 snRNA processing integral to membrane|integrator complex|nuclear membrane 0 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) ATGCGCCTCACGTAGCGTGAG 0.662 NA 21 44 0 0 0.012319 0 0 TTYH3 80727 broad.mit.edu 37 7 2686509 2686509 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr7:2686509C>T uc003smp.2 + 2 333 c.146C>T c.(145-147)GCC>GTC p.A49V TTYH3_uc010ksn.2_5'Flank|TTYH3_uc003smq.2_5'Flank NM_025250 NP_079526 Q9C0H2 TTYH3_HUMAN tweety 3 49 Helical; Name=1; (Potential). chloride channel complex|plasma membrane chloride channel activity 0 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;2.04e-14) CTGGGGGCCGCCGCCCTGGCC 0.726 NA 5 15 0 0 0.001984 0 0 SDK1 221935 broad.mit.edu 37 7 4116637 4116637 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr7:4116637G>C uc003smx.2 + 21 3157 c.3018G>C c.(3016-3018)CAG>CAC p.Q1006H SDK1_uc010kso.2_Missense_Mutation_p.Q282H NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN sidekick 1 precursor 1006 Fibronectin type-III 4. cell adhesion integral to membrane large_intestine(3)|ovary(2)|skin(1) 6 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) TAGGCTATCAGATCTCTTGGG 0.542 NA 9 32 0 0 0.004482 0 0 PHF14 9678 broad.mit.edu 37 7 11022767 11022767 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr7:11022767C>T uc003sry.1 + 3 1316 c.881C>T c.(880-882)TCT>TTT p.S294F PHF14_uc011jxi.1_Intron|PHF14_uc003srz.2_Missense_Mutation_p.S294F|PHF14_uc011jxj.1_Intron NM_014660 NP_055475 O94880 PHF14_HUMAN PHD finger protein 14 isoform 2 294 zinc ion binding kidney(2)|skin(1) 3 UCEC - Uterine corpus endometrioid carcinoma (126;0.205) CTGACCCTATCTCAAAGCAAG 0.413 NA 3 15 0 0 0.009096 0 0 THSD7A 221981 broad.mit.edu 37 7 11485703 11485703 + Nonsense_Mutation SNP T T A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr7:11485703T>A uc003ssf.3 - 13 3301 c.3049A>T c.(3049-3051)AGA>TGA p.R1017* NM_015204 NP_056019 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 1017 TSP type-1 10.|Extracellular (Potential). integral to membrane ovary(3) 3 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) CTGTTACATCTAGATGTTTCC 0.428 NA HNSCC(18;0.044) 28 73 0 0 0.007291 0 0 TWISTNB 221830 broad.mit.edu 37 7 19748388 19748388 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr7:19748388C>G uc003sup.1 - 1 273 c.252G>C c.(250-252)GAG>GAC p.E84D NM_001002926 NP_001002926 Q3B726 RPA43_HUMAN TWIST neighbor 84 microtubule cytoskeleton|nucleolus DNA-directed RNA polymerase activity ovary(1) 1 ATCGGTACCTCTCAGAATAGC 0.562 NA OREG0017879 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 50 0 0 0.008291 0 0 DNAH11 8701 broad.mit.edu 37 7 21723442 21723442 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr7:21723442G>A uc003svc.2 + 33 5553 c.5522G>A c.(5521-5523)CGT>CAT p.R1841H NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 1841 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 TCTCAACTTCGTCACCGATGG 0.443 NA Kartagener_syndrome 13 148 0 0 0.003163 0 0 CDCA7L 55536 broad.mit.edu 37 7 21947917 21947917 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr7:21947917C>T uc010kuk.2 - 4 632 c.512G>A c.(511-513)CGC>CAC p.R171H CDCA7L_uc003sve.3_Missense_Mutation_p.R137H|CDCA7L_uc010kul.2_Missense_Mutation_p.R125H|CDCA7L_uc003svf.3_Missense_Mutation_p.R170H|CDCA7L_uc011jyk.1_Missense_Mutation_p.R171H NM_018719 NP_061189 Q96GN5 CDA7L_HUMAN cell division cycle associated 7-like isoform 1 171 positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus 0 ATTCTGTAAGCGTGCGCTAGA 0.428 NA 20 36 0 0 0.008871 0 0 OSBPL3 26031 broad.mit.edu 37 7 24911677 24911677 + Missense_Mutation SNP T T A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr7:24911677T>A uc003sxf.2 - 3 513 c.108A>T c.(106-108)GAA>GAT p.E36D OSBPL3_uc003sxd.2_RNA|OSBPL3_uc003sxe.2_RNA|OSBPL3_uc003sxg.2_Missense_Mutation_p.E36D|OSBPL3_uc003sxh.2_Missense_Mutation_p.E36D|OSBPL3_uc003sxi.2_Missense_Mutation_p.E36D NM_015550 NP_056365 Q9H4L5 OSBL3_HUMAN oxysterol-binding protein-like protein 3 isoform 36 lipid transport lipid binding|protein binding skin(1) 1 CTTCCACCACTTCCCAGCTGT 0.413 NA 20 31 0 0 0.008871 0 0 HOXA1 3198 broad.mit.edu 37 7 27135155 27135155 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr7:27135155C>A uc003sye.2 - 1 471 c.377G>T c.(376-378)TGC>TTC p.C126F HOXA1_uc003syd.2_Intron|uc003syg.2_5'Flank NM_005522 NP_005513 P49639 HXA1_HUMAN homeobox A1 isoform a 126 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(3) 3 AGCGGGAGCGCACTGGGGGTA 0.567 NA 19 83 5.35267e-07 6.18796e-07 0.007413 1 0 HOXA4 3201 broad.mit.edu 37 7 27169157 27169157 + Missense_Mutation SNP C C A rs145032542 byFrequency TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr7:27169157C>A uc003sym.3 - 2 697 c.650G>T c.(649-651)CGC>CTC p.R217L HOXA3_uc003syk.2_5'Flank NM_002141 NP_002132 Q00056 HXA4_HUMAN homeobox A4 217 Homeobox. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1) 1 GGTTCGAGAGCGCTTAGGCTC 0.458 NA 16 57 0.006122 0.00630884 0.006122 1 0 CREB5 9586 broad.mit.edu 37 7 28848855 28848855 + Nonsense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr7:28848855C>T uc003szq.2 + 9 1468 c.1078C>T c.(1078-1080)CAG>TAG p.Q360* CREB5_uc003szo.2_Nonsense_Mutation_p.Q327*|CREB5_uc003szr.2_Nonsense_Mutation_p.Q353*|CREB5_uc003szs.2_Nonsense_Mutation_p.Q221* NM_182898 NP_878901 Q02930 CREB5_HUMAN cAMP responsive element binding protein 5 360 positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(2) 2 ACAGCCACCCCAGCCCACAGG 0.637 NA 10 96 0 0 0.008291 0 0 GARS 2617 broad.mit.edu 37 7 30649288 30649288 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr7:30649288C>A uc003tbm.2 + 7 1180 c.823C>A c.(823-825)CCA>ACA p.P275T NM_002047 NP_002038 P41250 SYG_HUMAN glycyl-tRNA synthetase 275 cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation cytosol|mitochondrial matrix|soluble fraction ATP binding|glycine-tRNA ligase activity|protein dimerization activity ovary(1) 1 Glycine(DB00145) TCTATCCCCTCCAGTGTCTTT 0.358 NA 14 27 0.000151284 0.000163198 0.001855 1 0 INMT 11185 broad.mit.edu 37 7 30793439 30793439 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr7:30793439C>G uc003tbs.1 + 2 263 c.247C>G c.(247-249)CTC>GTC p.L83V FAM188B_uc010kwe.2_5'UTR|INMT_uc010kwc.1_RNA|INMT_uc010kwd.1_Missense_Mutation_p.L82V NM_006774 NP_006765 O95050 INMT_HUMAN indolethylamine N-methyltransferase 83 cytoplasm amine N-methyltransferase activity 0 AGACATCACTCTCTCCGACTT 0.567 NA 89 250 0 0 0.01441 0 0 GHRHR 2692 broad.mit.edu 37 7 31011704 31011704 + Silent SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr7:31011704C>T uc003tbx.2 + 6 639 c.591C>T c.(589-591)TTC>TTT p.F197F GHRHR_uc003tbw.1_Silent_p.F197F|GHRHR_uc003tby.2_Silent_p.F133F|GHRHR_uc003tbz.2_Missense_Mutation_p.S15F NM_000823 NP_000814 Q02643 GHRHR_HUMAN growth hormone releasing hormone receptor 197 Extracellular (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding ovary(2)|lung(1)|breast(1)|large_intestine(1) 5 Sermorelin(DB00010) ACTGCAGCTTCTCCACTGTAA 0.582 NA 10 30 0 0 0.010729 0 0 NEUROD6 63974 broad.mit.edu 37 7 31378209 31378209 + Missense_Mutation SNP A A G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr7:31378209A>G uc003tch.2 - 2 1027 c.674T>C c.(673-675)CTT>CCT p.L225P NM_022728 NP_073565 Q96NK8 NDF6_HUMAN neurogenic differentiation 6 225 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(2) 2 GGAATTATCAAGAGTCCCATG 0.527 NA 41 75 0 0 0.00874 0 0 PDE1C 5137 broad.mit.edu 37 7 31793152 31793152 + Nonsense_Mutation SNP A A T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr7:31793152A>T uc003tcm.1 - 18 2445 c.1976T>A c.(1975-1977)TTG>TAG p.L659* PDE1C_uc003tcn.1_Nonsense_Mutation_p.L659*|PDE1C_uc003tco.1_Nonsense_Mutation_p.L719* NM_005020 NP_005011 Q14123 PDE1C_HUMAN phosphodiesterase 1C 659 activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding skin(3)|central_nervous_system(1) 4 GBM - Glioblastoma multiforme(11;0.216) AAAATGACGCAAAGGAGGCTT 0.483 NA 16 45 0 0 0.00499 0 0 PDE1C 5137 broad.mit.edu 37 7 31877577 31877577 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr7:31877577C>T uc003tcm.1 - 10 1458 c.989G>A c.(988-990)CGA>CAA p.R330Q PDE1C_uc003tcn.1_Missense_Mutation_p.R330Q|PDE1C_uc003tco.1_Missense_Mutation_p.R390Q|PDE1C_uc003tcr.2_Missense_Mutation_p.R330Q|PDE1C_uc003tcs.2_Missense_Mutation_p.R330Q NM_005020 NP_005011 Q14123 PDE1C_HUMAN phosphodiesterase 1C 330 Catalytic (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding skin(3)|central_nervous_system(1) 4 GBM - Glioblastoma multiforme(11;0.216) TACCAAGGTTCGAAACTCCCT 0.388 NA 33 84 0 0 0.013726 0 0 LSM5 23658 broad.mit.edu 37 7 32529942 32529942 + Silent SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr7:32529942C>A uc003tct.2 - 1 82 c.36G>T c.(34-36)CTG>CTT p.L12L LSM5_uc003tcu.2_RNA|LSM5_uc011kag.1_Intron|LSM5_uc011kah.1_Intron NM_012322 NP_036454 Q9Y4Y9 LSM5_HUMAN LSM5 homolog, U6 small nuclear RNA associated 12 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|mRNA processing|RNA splicing cytosol|nucleus|ribonucleoprotein complex protein binding|RNA binding 0 GBM - Glioblastoma multiforme(11;0.152) CTAAGGGCAGCAGCTGCGACG 0.617 NA 14 66 4.7546e-09 5.75307e-09 0.004007 1 0 NPSR1 387129 broad.mit.edu 37 7 34889224 34889224 + Missense_Mutation SNP A A T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr7:34889224A>T uc003teg.1 + 9 1201 c.1073A>T c.(1072-1074)GAG>GTG p.E358V AAA1_uc010kwq.1_Intron|AAA1_uc011kaq.1_Intron|NPSR1_uc003teh.1_Nonstop_Mutation_p.*391C|NPSR1_uc010kwt.1_Missense_Mutation_p.E205V|NPSR1_uc010kwu.1_Missense_Mutation_p.E148V|NPSR1_uc010kwv.1_Missense_Mutation_p.E292V|NPSR1_uc003tei.1_Intron|NPSR1_uc010kww.1_Intron|NPSR1_uc011kar.1_Intron NM_207172 NP_997055 Q6W5P4 NPSR1_HUMAN G protein-coupled receptor for asthma 358 Cytoplasmic (Potential). cytoplasm|integral to membrane|plasma membrane vasopressin receptor activity skin(3)|pancreas(1) 4 Halothane(DB01159) GAGAGAACTGAGAGGCATGAG 0.488 NA 26 68 0 0 0.00632 0 0 EEPD1 80820 broad.mit.edu 37 7 36194191 36194191 + Silent SNP A A G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr7:36194191A>G uc003tfa.2 + 2 898 c.258A>G c.(256-258)GTA>GTG p.V86V NM_030636 NP_085139 Q7L9B9 EEPD1_HUMAN endonuclease/exonuclease/phosphatase family 86 DNA repair DNA binding 0 TCAGTGGTGTAGGCGCCACCA 0.612 NA 23 68 0 0 0.00278 0 0 EEPD1 80820 broad.mit.edu 37 7 36336752 36336752 + Missense_Mutation SNP T T C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr7:36336752T>C uc003tfa.2 + 7 2106 c.1466T>C c.(1465-1467)CTG>CCG p.L489P NM_030636 NP_085139 Q7L9B9 EEPD1_HUMAN endonuclease/exonuclease/phosphatase family 489 DNA repair DNA binding 0 TCGAAGTCTCTGGACAACATC 0.463 NA 3 25 0 0 0.009096 0 0 CDK13 8621 broad.mit.edu 37 7 40134118 40134118 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr7:40134118G>C uc003thh.3 + 14 4360 c.4078G>C c.(4078-4080)GCT>CCT p.A1360P CDK13_uc003thi.3_Missense_Mutation_p.A1300P|CDK13_uc003thj.2_Missense_Mutation_p.A411P|CDK13_uc003thk.2_Missense_Mutation_p.A293P NM_003718 NP_003709 Q14004 CDK13_HUMAN cell division cycle 2-like 5 isoform 1 1360 alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity lung(2)|skin(2)|ovary(1) 5 AAGCAGTTCTGCTCCACCACT 0.438 NA 32 81 0 0 0.008361 0 0 AEBP1 165 broad.mit.edu 37 7 44149840 44149840 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr7:44149840C>A uc003tkb.2 + 11 1600 c.1295C>A c.(1294-1296)GCG>GAG p.A432E AEBP1_uc003tkc.3_5'Flank|AEBP1_uc003tkd.2_5'Flank NM_001129 NP_001120 Q8IUX7 AEBP1_HUMAN adipocyte enhancer binding protein 1 precursor 432 Required for DNA-binding and interaction with NFKBIA (By similarity).|F5/8 type C.|Interaction with MAPK1 and MAPK3 (By similarity). cell adhesion|muscle organ development|proteolysis|skeletal system development cytoplasm|extracellular space|nucleus DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 TATGATGGTGCGTGGTGTGCC 0.632 NA 14 44 1.5842e-08 1.8979e-08 0.001855 1 0 GCK 2645 broad.mit.edu 37 7 44184835 44184835 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr7:44184835C>T uc003tkl.2 - 10 1768 c.1298G>A c.(1297-1299)AGC>AAC p.S433N GCK_uc003tkh.1_Missense_Mutation_p.S106N|GCK_uc003tki.1_Missense_Mutation_p.S111N|GCK_uc003tkj.1_Missense_Mutation_p.S432N|GCK_uc003tkk.1_Missense_Mutation_p.S434N NM_000162 NP_000153 P35557 HXK4_HUMAN glucokinase isoform 1 433 cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport cytosol|nucleoplasm ATP binding|glucokinase activity|glucose binding|protein binding skin(3)|lung(1) 4 GATCTCGCAGCTGGGCGTCAG 0.657 NA 10 22 0 0 0.006214 0 0 H2AFV 94239 broad.mit.edu 37 7 44875224 44875224 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr7:44875224G>C uc003tma.2 - 4 384 c.229C>G c.(229-231)CTC>GTC p.L77V H2AFV_uc003tlz.2_Missense_Mutation_p.L77V|H2AFV_uc011kca.1_5'Flank|H2AFV_uc003tmb.2_Missense_Mutation_p.L39V|H2AFV_uc003tmc.2_Intron|H2AFV_uc003tmd.2_Missense_Mutation_p.L51V NM_012412 NP_036544 Q71UI9 H2AV_HUMAN H2A histone family, member V isoform 1 77 nucleosome assembly nucleosome|nucleus DNA binding 0 TTTACTTTGAGATCCTTAGAA 0.463 NA 8 37 0 0 0.004482 0 0 TNS3 64759 broad.mit.edu 37 7 47343137 47343137 + Silent SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr7:47343137G>T uc003tnv.2 - 22 3235 c.2868C>A c.(2866-2868)CCC>CCA p.P956P TNS3_uc003tnw.2_Silent_p.P956P NM_022748 NP_073585 Q68CZ2 TENS3_HUMAN tensin 3 956 focal adhesion protein binding ovary(4) 4 GGGAAACCATGGGCTTGGGGC 0.607 NA 5 24 0.000602214 0.000636401 0.000602 1 0 PKD1L1 168507 broad.mit.edu 37 7 47882629 47882629 + Silent SNP C C A rs148252365 TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr7:47882629C>A uc003tny.1 - 34 5376 c.5376G>T c.(5374-5376)CTG>CTT p.L1792L NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN polycystin-1L1 1792 Cytoplasmic (Potential). cell-cell adhesion integral to membrane ovary(8)|upper_aerodigestive_tract(2)|breast(1) 11 GATGGCCCGGCAGGGAAGCTT 0.468 NA 24 58 1.74197e-06 1.98848e-06 0.00632 1 0 VWC2 375567 broad.mit.edu 37 7 49842403 49842403 + Nonsense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr7:49842403G>T uc003tot.1 + 3 1349 c.793G>T c.(793-795)GAG>TAG p.E265* NM_198570 NP_940972 Q2TAL6 VWC2_HUMAN von Willebrand factor C domain containing 2 265 VWFC 2. negative regulation of BMP signaling pathway|positive regulation of neuron differentiation basement membrane|extracellular space 0 CCCTGTGTACGAGCCTGATCA 0.577 NA 18 40 9.16793e-09 1.10106e-08 0.00499 1 0 COBL 23242 broad.mit.edu 37 7 51261234 51261234 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr7:51261234G>T uc003tpr.3 - 3 483 c.298C>A c.(298-300)CCA>ACA p.P100T COBL_uc003tps.2_Missense_Mutation_p.P100T|COBL_uc011kcl.1_Missense_Mutation_p.P100T|COBL_uc010kzc.2_Missense_Mutation_p.P100T|COBL_uc003tpt.2_Missense_Mutation_p.P100T|COBL_uc003tpp.3_5'Flank|COBL_uc003tpq.3_Missense_Mutation_p.P16T NM_015198 NP_056013 O75128 COBL_HUMAN cordon-bleu homolog 100 skin(3)|ovary(2) 5 Glioma(55;0.08) TGGTGGGATGGATTCAGGTGG 0.423 NSCLC(189;2119 2138 12223 30818 34679) NA 10 20 1.58986e-06 1.81627e-06 0.008291 1 0 POM121L12 285877 broad.mit.edu 37 7 53103547 53103547 + Silent SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr7:53103547C>T uc003tpz.2 + 1 199 c.183C>T c.(181-183)AGC>AGT p.S61S NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN POM121 membrane glycoprotein-like 12 61 0 TGACTCAGAGCCATATTCAGT 0.701 NA 27 57 0 0 0.003954 0 0 POM121L12 285877 broad.mit.edu 37 7 53103731 53103731 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr7:53103731G>T uc003tpz.2 + 1 383 c.367G>T c.(367-369)GGG>TGG p.G123W NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN POM121 membrane glycoprotein-like 12 123 0 CATGAAAGGGGGGCTGTGTCG 0.701 NA 14 43 2.23348e-06 2.53163e-06 0.004007 1 0 EGFR 1956 broad.mit.edu 37 7 55259501 55259501 + Silent SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr7:55259501C>T uc003tqk.2 + 21 2805 c.2559C>T c.(2557-2559)ATC>ATT p.I853I EGFR_uc010kzg.1_Silent_p.I808I|EGFR_uc011kco.1_Silent_p.I800I|uc003tqo.2_5'Flank NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 853 Cytoplasmic (Potential).|Protein kinase. activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.I853T(1)|p.I853I(1) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) ATGTCAAGATCACAGATTTTG 0.532 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 8 72 0 0 0.00308 0 0 ZNF713 349075 broad.mit.edu 37 7 55990964 55990965 + Missense_Mutation DNP GG GG CC TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr7:55990964_55990965GG>CC uc003trc.1 + 2 196_197 c.158_159GG>CC c.(157-159)AGG>ACC p.R53T ZNF713_uc003tra.1_Missense_Mutation_p.R66T|MRPS17_uc003trb.2_Missense_Mutation_p.R53T NM_182633 NP_872439 Q8N859 ZN713_HUMAN zinc finger protein 713 53 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) GAGAACTACAGGAATCTAGTTG 0.51 NA 23 56 0 0 0.004672 0 0 POM121 9883 broad.mit.edu 37 7 72409924 72409924 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr7:72409924G>A uc003twk.2 + 7 1417 c.1417G>A c.(1417-1419)GAC>AAC p.D473N POM121_uc003twj.2_Missense_Mutation_p.D208N|POM121_uc010lam.1_Missense_Mutation_p.D208N NM_172020 NP_742017 Q96HA1 P121A_HUMAN nuclear pore membrane protein 121 473 Pore side (Potential). carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore 0 Lung NSC(55;0.163) ATTGGCAGCAGACAGGGAGTC 0.488 NA 6 13 0 0 0.004482 0 0 TRIM50 135892 broad.mit.edu 37 7 72734212 72734212 + Silent SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr7:72734212C>T uc010lbd.1 - 3 554 c.429G>A c.(427-429)CTG>CTA p.L143L FKBP6_uc003twz.2_Intron|TRIM50_uc003txy.1_Silent_p.L143L|TRIM50_uc003txz.1_Silent_p.L143L NM_178125 NP_835226 Q86XT4 TRI50_HUMAN tripartite motif protein 50A 143 Potential. cytoplasm|intracellular membrane-bounded organelle ligase activity|zinc ion binding skin(1) 1 GCTCCTGCTTCAGCTCAGAGA 0.597 NA 28 121 0 0 0.007291 0 0 DTX2 113878 broad.mit.edu 37 7 76111922 76111922 + Silent SNP T T C rs141436878 TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr7:76111922T>C uc003uff.3 + 5 922 c.366T>C c.(364-366)ACT>ACC p.T122T DTX2_uc011kgk.1_Silent_p.T31T|DTX2_uc003ufg.3_Silent_p.T122T|DTX2_uc003ufh.3_Silent_p.T122T|DTX2_uc003ufj.3_Silent_p.T122T NM_020892 NP_065943 Q86UW9 DTX2_HUMAN deltex 2 isoform a 122 WWE 2. Notch signaling pathway cytoplasm|nucleus protein binding|zinc ion binding ovary(1)|skin(1) 2 GCTCCTGGACTGCCTATGAAG 0.632 NA 35 50 0 0 0.013726 0 0 SEMA3C 10512 broad.mit.edu 37 7 80546044 80546044 + Silent SNP A A G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr7:80546044A>G uc003uhj.2 - 2 616 c.54T>C c.(52-54)TGT>TGC p.C18C SEMA3C_uc011kgw.1_Silent_p.C36C|SEMA3C_uc011kgx.1_5'UTR NM_006379 NP_006370 Q99985 SEM3C_HUMAN semaphorin 3C precursor 18 immune response|response to drug membrane receptor activity ovary(1) 1 ATCCTTTCACACAGATAGAAC 0.348 NA 14 26 0 0 0.003163 0 0 SEMA3D 223117 broad.mit.edu 37 7 84628913 84628913 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr7:84628913C>G uc003uic.2 - 17 2217 c.2177G>C c.(2176-2178)AGC>ACC p.S726T SEMA3D_uc010led.2_Missense_Mutation_p.S726T|SEMA3D_uc003uib.2_Missense_Mutation_p.S365T NM_152754 NP_689967 O95025 SEM3D_HUMAN semaphorin 3D precursor 726 cell differentiation|nervous system development extracellular region|membrane receptor activity ovary(3)|large_intestine(2) 5 CTGGTCGAGGCTGAAGTTTGG 0.512 Ovarian(63;442 1191 17318 29975 31528) NA 7 44 0 0 0.001984 0 0 TRRAP 8295 broad.mit.edu 37 7 98509822 98509822 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr7:98509822G>A uc003upp.2 + 18 2394 c.2185G>A c.(2185-2187)GAA>AAA p.E729K TRRAP_uc011kis.1_Missense_Mutation_p.E729K|TRRAP_uc003upr.2_Missense_Mutation_p.E421K NM_003496 NP_003487 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated 729 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1) 37 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) AGCTGAAAATGAACAAATGCT 0.368 NA 23 37 0 0 0.00333 0 0 CYP3A7 1551 broad.mit.edu 37 7 99308411 99308411 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr7:99308411G>T uc003uru.2 - 10 1075 c.970C>A c.(970-972)CAC>AAC p.H324N ZNF498_uc003urn.2_Intron|CYP3A5_uc003urs.2_Intron|CYP3A5_uc010lgg.2_Intron NM_000765 NP_000756 P24462 CP3A7_HUMAN cytochrome P450, family 3, subfamily A, 324 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding ovary(1) 1 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) ACATCAGGGTGAGTGGCCAGT 0.448 NA 16 15 1.3612e-06 1.55873e-06 0.003163 1 0 Unknown 0 broad.mit.edu 37 7 99580996 99580996 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr7:99580996C>A uc003usi.2 + 2 317 c.306C>A c.(304-306)AAC>AAA p.N102K RecName: Full=Putative zinc-alpha-2-glycoprotein-like 2; Flags: Precursor; NA AGACCCTGAACAACATCATGG 0.562 NA 12 15 1.61879e-10 1.99532e-10 0.013537 1 0 ZSCAN21 7589 broad.mit.edu 37 7 99662084 99662084 + Silent SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr7:99662084G>A uc003uso.2 + 4 1410 c.1266G>A c.(1264-1266)GGG>GGA p.G422G ZSCAN21_uc003usn.1_Missense_Mutation_p.G387E|ZNF3_uc003usp.2_3'UTR NM_145914 NP_666019 Q9Y5A6 ZSC21_HUMAN zinc finger protein 38 422 C2H2-type 6. positive regulation of transcription, DNA-dependent|viral reproduction nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439) STAD - Stomach adenocarcinoma(171;0.129) AGGAGTGTGGGAAAGCCTTCA 0.512 NA 18 23 0 0 0.006122 0 0 CUX1 1523 broad.mit.edu 37 7 101671405 101671405 + Silent SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr7:101671405C>T uc003uyx.3 + 3 207 c.169C>T c.(169-171)CTG>TTG p.L57L CUX1_uc003uys.3_Silent_p.L68L|CUX1_uc003uyt.2_Silent_p.L68L|CUX1_uc011kkn.1_Silent_p.L31L|CUX1_uc003uyw.2_Silent_p.L68L|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Silent_p.L68L NM_181552 NP_853530 P39880 CUX1_HUMAN cut-like homeobox 1 isoform a 57 Potential. negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 AGCGCCGCTGCTGAAGAGTTT 0.473 NA 10 30 0 0 0.013537 0 0 NRCAM 4897 broad.mit.edu 37 7 107816974 107816974 + Missense_Mutation SNP A A T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr7:107816974A>T uc003vfb.2 - 27 3523 c.3052T>A c.(3052-3054)TTA>ATA p.L1018I NRCAM_uc003vfc.2_Missense_Mutation_p.L1002I|NRCAM_uc011kmk.1_Missense_Mutation_p.L1013I|NRCAM_uc003vfd.2_Missense_Mutation_p.L994I|NRCAM_uc003vfe.2_Missense_Mutation_p.L994I|NRCAM_uc011kmj.1_5'UTR NM_001037132 NP_001032209 Q92823 NRCAM_HUMAN neuronal cell adhesion molecule isoform A 1018 Fibronectin type-III 4.|Extracellular (Potential). angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly external side of plasma membrane|integral to plasma membrane ankyrin binding ovary(3)|breast(2) 5 CTGAAATTTAAATTTTTTAAA 0.363 NA 24 18 0 0 0.00278 0 0 C7orf66 154907 broad.mit.edu 37 7 108524185 108524185 + Missense_Mutation SNP T T C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr7:108524185T>C uc003vfo.2 - 2 275 c.227A>G c.(226-228)CAG>CGG p.Q76R NM_001024607 NP_001019778 A4D0T2 CG066_HUMAN hypothetical protein LOC154907 76 integral to membrane ovary(2) 2 TCTGTATCTCTGATCCATCAT 0.403 NA 3 39 0 0 0.004672 0 0 DOCK4 9732 broad.mit.edu 37 7 111379521 111379521 + Missense_Mutation SNP T T A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr7:111379521T>A uc003vfx.2 - 47 5295 c.5026A>T c.(5026-5028)ACC>TCC p.T1676S DOCK4_uc011kml.1_Missense_Mutation_p.T557S|DOCK4_uc011kmm.1_Missense_Mutation_p.T583S|DOCK4_uc003vfw.2_Missense_Mutation_p.T1126S|DOCK4_uc003vfy.2_Missense_Mutation_p.T1721S|DOCK4_uc003vfv.2_5'UTR NM_014705 NP_055520 Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 1676 Ser-rich. cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(1;0.0441) AAGCTTGAGGTAGATGGACTT 0.468 NA 2 0 0 0 0.004672 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121638051 121638051 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr7:121638051G>T uc003vjy.2 + 10 1626 c.1231G>T c.(1231-1233)GAT>TAT p.D411Y PTPRZ1_uc003vjz.2_Missense_Mutation_p.D411Y NM_002851 NP_002842 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, 411 Extracellular (Potential). central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1) 9 CATGCCTACTGATAATCCTGG 0.348 NA 5 10 0.000602214 0.000636401 0.000602 1 0 POT1 25913 broad.mit.edu 37 7 124499043 124499043 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr7:124499043C>G uc003vlm.2 - 9 1271 c.670G>C c.(670-672)GAT>CAT p.D224H POT1_uc011koe.1_RNA|POT1_uc003vlk.2_RNA|POT1_uc003vll.2_RNA|POT1_uc003vlo.2_Missense_Mutation_p.D93H|POT1_uc003vln.2_RNA NM_015450 NP_056265 Q9NUX5 POTE1_HUMAN protection of telomeres 1 isoform 1 224 DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase nuclear telomere cap complex|nucleoplasm DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity central_nervous_system(1) 1 ACATGGTTATCGTAGACTAAA 0.318 Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642) NA 3 16 0 0 0.006214 0 0 NRF1 4899 broad.mit.edu 37 7 129357178 129357178 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr7:129357178G>T uc003voz.2 + 9 1302 c.1185G>T c.(1183-1185)GAG>GAT p.E395D NRF1_uc003vpa.2_Missense_Mutation_p.E395D|NRF1_uc011kpa.1_Missense_Mutation_p.E234D|NRF1_uc003vpb.2_Missense_Mutation_p.E395D NM_005011 NP_005002 Q16656 NRF1_HUMAN nuclear respiratory factor 1 395 Required for transcriptional activation. generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding ovary(1) 1 CTTCTCAGGAGATGCAGCAGG 0.572 NA 16 26 1.3612e-06 1.55873e-06 0.003163 1 0 PRSS1 5644 broad.mit.edu 37 7 142460350 142460350 + Missense_Mutation SNP T T C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr7:142460350T>C uc003wak.2 + 4 540 c.523T>C c.(523-525)TAC>CAC p.Y175H uc011krr.1_Intron|uc003vzp.2_Intron|uc011ksh.1_Intron|uc011ksi.1_Intron|uc003vzw.1_Intron|uc010loj.1_Intron|uc003wad.2_Intron|uc003wag.1_Intron|TRY6_uc011ksn.1_Intron|PRSS1_uc003wam.2_Missense_Mutation_p.Y115H NM_002769 NP_002760 P07477 TRY1_HUMAN protease, serine, 1 preproprotein 175 Peptidase S1. digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity large_intestine(1)|central_nervous_system(1) 2 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) TGAAGCCTCCTACCCTGGAAA 0.532 NA Hereditary_Pancreatitis 68 159 0 0 0.01441 0 0 EZH2 2146 broad.mit.edu 37 7 148513776 148513776 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr7:148513776C>T uc003wfd.1 - 12 1656 c.1490G>A c.(1489-1491)CGG>CAG p.R497Q EZH2_uc011kug.1_Missense_Mutation_p.R488Q|EZH2_uc003wfb.1_Missense_Mutation_p.R502Q|EZH2_uc003wfc.1_Missense_Mutation_p.R458Q|EZH2_uc011kuh.1_Missense_Mutation_p.R488Q|EZH2_uc011kui.1_3'UTR NM_004456 NP_004447 Q15910 EZH2_HUMAN enhancer of zeste 2 isoform a 497 negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex DNA binding|histone-lysine N-methyltransferase activity|protein binding haematopoietic_and_lymphoid_tissue(180)|skin(2)|large_intestine(1) 183 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00239) ACAGACTCACCGGTGTTTCCT 0.453 NA Mis DLBCL 20 22 0 0 0.010504 0 0 ZNF425 155054 broad.mit.edu 37 7 148802277 148802277 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr7:148802277C>T uc003wfj.2 - 4 759 c.686G>A c.(685-687)GGG>GAG p.G229E NM_001001661 NP_001001661 Q6IV72 ZN425_HUMAN zinc finger protein 425 229 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) TTCGGACTTCCCTCTGGACGA 0.532 NA 34 30 0 0 0.003271 0 0 ABCB8 11194 broad.mit.edu 37 7 150739143 150739143 + Silent SNP G G T rs138648802 by1000genomes TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr7:150739143G>T uc003wil.3 + 15 1857 c.1764G>T c.(1762-1764)GCG>GCT p.A588A ABCB8_uc010lpw.1_3'UTR|ABCB8_uc010lpx.2_Silent_p.A571A|ABCB8_uc011kvd.1_Silent_p.A483A|ABCB8_uc003wim.3_Silent_p.A366A|ABCB8_uc003wik.3_Silent_p.A571A NM_007188 NP_009119 Q9NUT2 ABCB8_HUMAN ATP-binding cassette, sub-family B, member 8 588 ABC transporter. ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(2)|upper_aerodigestive_tract(1) 3 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CCCGGGAAGCGAATGCTCACG 0.607 NA 19 65 5.35267e-07 6.18796e-07 0.007413 1 0 FASTK 10922 broad.mit.edu 37 7 150774063 150774063 + Silent SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr7:150774063C>T uc003wix.1 - 9 1577 c.1479G>A c.(1477-1479)GTG>GTA p.V493V uc011kvf.1_5'Flank|FASTK_uc003wiw.1_Silent_p.V254V|FASTK_uc003wiy.1_Silent_p.V352V|FASTK_uc003wiz.1_Silent_p.V466V|FASTK_uc003wja.1_3'UTR NM_006712 NP_006703 Q14296 FASTK_HUMAN Fas-activated serine/threonine kinase isoform 1 493 RAP. apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing ATP binding|Fas-activated serine/threonine kinase activity|protein binding lung(2)|stomach(2) 4 OV - Ovarian serous cystadenocarcinoma(82;0.00989) UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138) AGCCCAGCAGCACCCGGCCGT 0.716 NA 14 39 0 0 0.001855 0 0 MLL3 58508 broad.mit.edu 37 7 151945082 151945082 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr7:151945082G>C uc003wla.2 - 14 2656 c.2437C>G c.(2437-2439)CCA>GCA p.P813A NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 813 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) TAAGTTGTTGGCATGATGTTT 0.448 Colon(68;14 1149 1884 27689 34759) NA N medulloblastoma 8 124 0 0 0.00308 0 0 TUSC3 7991 broad.mit.edu 37 8 15517098 15517098 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr8:15517098G>C uc003wwt.2 + 4 719 c.509G>C c.(508-510)AGA>ACA p.R170T TUSC3_uc003wwr.2_Missense_Mutation_p.R170T|TUSC3_uc003wws.2_Missense_Mutation_p.R170T|TUSC3_uc003wwu.2_Missense_Mutation_p.R170T|TUSC3_uc003wwv.2_Missense_Mutation_p.R170T|TUSC3_uc003www.2_Missense_Mutation_p.R170T|TUSC3_uc003wwx.2_RNA|TUSC3_uc003wwy.2_Missense_Mutation_p.R170T NM_006765 NP_006756 Q13454 TUSC3_HUMAN tumor suppressor candidate 3 isoform a 170 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) GACCTCCAAAGAATTGGATTT 0.393 NA 5 16 0 0 0.001984 0 0 ADAM7 8756 broad.mit.edu 37 8 24359024 24359024 + Nonsense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr8:24359024G>T uc003xeb.2 + 20 2256 c.2143G>T c.(2143-2145)GGA>TGA p.G715* ADAM7_uc003xec.2_Nonsense_Mutation_p.G487* NM_003817 NP_003808 Q9H2U9 ADAM7_HUMAN a disintegrin and metalloproteinase domain 7 715 Cytoplasmic (Potential). proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding skin(3)|ovary(1)|kidney(1) 5 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) GGAGAACAAAGGATACTTTGG 0.323 NA 11 21 0.00136819 0.00143231 0.013537 1 0 TEX15 56154 broad.mit.edu 37 8 30704584 30704584 + Silent SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr8:30704584C>T uc003xil.2 - 1 1950 c.1950G>A c.(1948-1950)ACG>ACA p.T650T NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN testis expressed 15 650 ovary(3)|upper_aerodigestive_tract(2)|skin(2) 7 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) TATTTTTATCCGTATCAATTT 0.299 NA 9 19 0 0 0.006214 0 0 UNC5D 137970 broad.mit.edu 37 8 35541202 35541202 + Silent SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr8:35541202C>A uc003xjr.1 + 5 1036 c.708C>A c.(706-708)ATC>ATA p.I236I UNC5D_uc003xjs.1_Silent_p.I231I|UNC5D_uc003xjt.1_Silent_p.I5I NM_080872 NP_543148 Q6UXZ4 UNC5D_HUMAN unc-5 homolog D precursor 236 Extracellular (Potential).|Ig-like C2-type. apoptosis|axon guidance integral to membrane receptor activity upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1) 6 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) CAGCCAACATCGTGGCTAAGA 0.532 NA 9 13 2.17888e-05 2.40588e-05 0.006214 1 0 KCNU1 157855 broad.mit.edu 37 8 36675196 36675196 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr8:36675196G>T uc010lvw.2 + 10 1111 c.1024G>T c.(1024-1026)GTG>TTG p.V342L KCNU1_uc003xjw.2_RNA NM_001031836 NP_001027006 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 342 RCK N-terminal.|Cytoplasmic (Potential). voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) AAACATCACTGTGGACAGTGT 0.458 NA 20 27 7.41877e-09 8.93287e-09 0.012319 1 0 ADRB3 155 broad.mit.edu 37 8 37821747 37821747 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr8:37821747C>T uc003xkr.1 - 2 1413 c.1216G>A c.(1216-1218)GGA>AGA p.G406R NM_000025 NP_000016 P13945 ADRB3_HUMAN adrenergic, beta-3-, receptor 406 Cytoplasmic (By similarity). carbohydrate metabolic process|energy reserve metabolic process|positive regulation of MAPKKK cascade integral to plasma membrane|receptor complex beta3-adrenergic receptor activity|protein homodimerization activity lung(2) 2 Colorectal(12;0.00627) Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;1.37e-11) Norepinephrine(DB00368)|Pindolol(DB00960)|Propranolol(DB00571) TAAGAAACTCCCCAAGAAGCC 0.507 NA 6 16 0 0 0.001984 0 0 MYST3 7994 broad.mit.edu 37 8 41834584 41834584 + Silent SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr8:41834584C>T uc010lxb.2 - 8 1849 c.1305G>A c.(1303-1305)GAG>GAA p.E435E MYST3_uc010lxc.2_Silent_p.E435E|MYST3_uc003xon.3_Silent_p.E435E|MYST3_uc010lxd.2_Silent_p.E435E NM_001099412 NP_001092882 Q92794 MYST3_HUMAN MYST histone acetyltransferase (monocytic 435 Interaction with RUNX1-1. histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1) 7 all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211) all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983) Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171) TTCGATATTGCTCAGAGTAGT 0.448 NA 20 31 0 0 0.007413 0 0 IKBKB 3551 broad.mit.edu 37 8 42176906 42176906 + Nonsense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr8:42176906G>T uc003xow.1 + 14 1660 c.1483G>T c.(1483-1485)GAG>TAG p.E495* IKBKB_uc010lxh.1_Nonsense_Mutation_p.E390*|IKBKB_uc011lco.1_RNA|IKBKB_uc010lxj.1_Nonsense_Mutation_p.E272*|IKBKB_uc003xox.1_Nonsense_Mutation_p.E216*|IKBKB_uc011lcp.1_RNA|IKBKB_uc011lcq.1_Nonsense_Mutation_p.E493*|IKBKB_uc010lxi.1_RNA|IKBKB_uc011lcr.1_Nonsense_Mutation_p.E436* NM_001556 NP_001547 O14920 IKKB_HUMAN inhibitor of nuclear factor kappa B kinase beta 495 anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|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 transcription, DNA-dependent|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|cytosol|internal side of plasma membrane|membrane raft ATP binding|identical protein binding|IkappaB kinase activity breast(3)|ovary(2)|lung(1)|skin(1) 7 all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211) all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264) Arsenic trioxide(DB01169)|Auranofin(DB00995) GATTGACCTGGAGAAGTACAG 0.428 NA OREG0018747 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 28 44 1.39806e-14 1.82061e-14 0.008361 1 0 VDAC3 7419 broad.mit.edu 37 8 42259420 42259420 + Silent SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr8:42259420C>T uc011lct.1 + 7 581 c.438C>T c.(436-438)TTC>TTT p.F146F VDAC3_uc010lxk.2_3'UTR|VDAC3_uc003xpc.2_Silent_p.F147F NM_005662 NP_005653 Q9Y277 VDAC3_HUMAN voltage-dependent anion channel 3 isoform b 146 adenine transport mitochondrial outer membrane|pore complex nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity upper_aerodigestive_tract(1) 1 all_cancers(6;3.86e-23)|all_lung(13;6.47e-12)|Lung NSC(13;1.08e-10)|Ovarian(28;0.00769)|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) BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00266)|Lung(22;0.00849)|LUSC - Lung squamous cell carcinoma(45;0.024) Dihydroxyaluminium(DB01375) TGTTGGCCTTCGAAGGGTGGC 0.463 NA 13 92 0 0 0.00245 0 0 SNTG1 54212 broad.mit.edu 37 8 51363276 51363276 + Missense_Mutation SNP G G T rs145685246 TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr8:51363276G>T uc010lxy.1 + 9 721 c.350G>T c.(349-351)AGA>ATA p.R117I SNTG1_uc003xqs.1_Missense_Mutation_p.R117I|SNTG1_uc010lxz.1_Missense_Mutation_p.R117I|SNTG1_uc011ldl.1_RNA NM_018967 NP_061840 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 117 PDZ. cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding ovary(5) 5 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) AGAAAATGTAGACATGAAGAA 0.323 NA 4 8 0.00024832 0.000265313 0.009096 1 0 ATP6V1H 51606 broad.mit.edu 37 8 54708348 54708348 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr8:54708348C>T uc003xrl.2 - 9 881 c.729G>A c.(727-729)ATG>ATA p.M243I ATP6V1H_uc003xrk.2_Missense_Mutation_p.M203I|ATP6V1H_uc003xrm.2_Missense_Mutation_p.M243I|ATP6V1H_uc003xrn.2_Missense_Mutation_p.M225I|ATP6V1H_uc011ldv.1_Missense_Mutation_p.M163I|ATP6V1H_uc010lyd.2_Missense_Mutation_p.M179I NM_213620 NP_998785 Q9UI12 VATH_HUMAN ATPase, H+ transporting, lysosomal 50/57kDa, V1 243 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism 0 all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181) OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359) TTGAAAAAATCATTTGATACT 0.378 NA 6 34 0 0 0.001984 0 0 SDR16C5 195814 broad.mit.edu 37 8 57218183 57218183 + Missense_Mutation SNP A A C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr8:57218183A>C uc003xsy.1 - 6 1447 c.809T>G c.(808-810)TTG>TGG p.L270W SDR16C5_uc010lyk.1_Missense_Mutation_p.L270W|SDR16C5_uc010lyl.1_Missense_Mutation_p.L226W NM_138969 NP_620419 Q8N3Y7 RDHE2_HUMAN epidermal retinal dehydrogenase 2 270 Helical; (Potential). detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction binding|retinol dehydrogenase activity ovary(1)|central_nervous_system(1)|skin(1) 3 GAAGTATAACAACTTTGGCAT 0.358 NA 10 19 0 0 0.008291 0 0 GGH 8836 broad.mit.edu 37 8 63930053 63930053 + Silent SNP T T C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr8:63930053T>C uc003xuw.2 - 8 1117 c.834A>G c.(832-834)GAA>GAG p.E278E NM_003878 NP_003869 Q92820 GGH_HUMAN gamma-glutamyl hydrolase precursor 278 Gamma-glutamyl hydrolase. glutamine metabolic process extracellular space|lysosome|melanosome gamma-glutamyl-peptidase activity 0 Breast(64;0.0716) all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131) Folic Acid(DB00158)|L-Glutamic Acid(DB00142) TCATATTACCTTCATTAACAA 0.358 NA 7 36 0 0 0.008291 0 0 EYA1 2138 broad.mit.edu 37 8 72123457 72123457 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr8:72123457C>A uc003xys.3 - 16 1919 c.1632G>T c.(1630-1632)AGG>AGT p.R544S EYA1_uc003xyr.3_Missense_Mutation_p.R509S|EYA1_uc003xyt.3_Missense_Mutation_p.R511S|EYA1_uc010lzf.2_Missense_Mutation_p.R471S|EYA1_uc003xyu.2_Missense_Mutation_p.R544S|EYA1_uc011lfe.1_Missense_Mutation_p.R538S|EYA1_uc003xyv.2_Missense_Mutation_p.R422S NM_172058 NP_742055 Q99502 EYA1_HUMAN eyes absent 1 isoform b 544 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 5 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) TTCTTCCAAACCTTTGAATTA 0.358 NA 19 33 1.15919e-05 1.28779e-05 0.008871 1 0 KCNB2 9312 broad.mit.edu 37 8 73480521 73480521 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr8:73480521G>C uc003xzb.2 + 2 1140 c.552G>C c.(550-552)GAG>GAC p.E184D NM_004770 NP_004761 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related 184 Cytoplasmic (Potential). regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1) 7 Breast(64;0.137) Epithelial(68;0.105) ACTTGCTGGAGAAACCTAACT 0.458 NA 9 66 0 0 0.004482 0 0 ZFHX4 79776 broad.mit.edu 37 8 77617456 77617456 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr8:77617456G>T uc003yav.2 + 2 1520 c.1133G>T c.(1132-1134)GGC>GTC p.G378V ZFHX4_uc003yat.1_Missense_Mutation_p.G378V|ZFHX4_uc003yau.1_Missense_Mutation_p.G378V|ZFHX4_uc003yaw.1_Missense_Mutation_p.G378V NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 378 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) TTGCCGGCTGGCTTTGCCTTC 0.522 NA HNSCC(33;0.089) 11 44 5.50884e-06 6.16718e-06 0.013537 1 0 ZFHX4 79776 broad.mit.edu 37 8 77620118 77620118 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr8:77620118C>A uc003yav.2 + 3 3237 c.2850C>A c.(2848-2850)CAC>CAA p.H950Q ZFHX4_uc003yat.1_Missense_Mutation_p.H950Q|ZFHX4_uc003yau.1_Missense_Mutation_p.H976Q|ZFHX4_uc003yaw.1_Missense_Mutation_p.H950Q NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 950 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) TGGTGGCTCACATTAAAGAAG 0.443 NA HNSCC(33;0.089) 20 41 8.10497e-08 9.55229e-08 0.010504 1 0 ZFHX4 79776 broad.mit.edu 37 8 77768223 77768223 + Silent SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr8:77768223C>T uc003yav.2 + 10 9318 c.8931C>T c.(8929-8931)ATC>ATT p.I2977I ZFHX4_uc003yau.1_Silent_p.I3022I|ZFHX4_uc003yaw.1_Silent_p.I2977I NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 2977 C2H2-type 18. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) GCTTGTCCATCAGAGATCACA 0.507 NA HNSCC(33;0.089) 12 28 0 0 0.013537 0 0 MMP16 4325 broad.mit.edu 37 8 89131063 89131063 + Missense_Mutation SNP T T A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr8:89131063T>A uc003yeb.3 - 5 1019 c.737A>T c.(736-738)CAT>CTT p.H246L MMP16_uc003yec.2_Missense_Mutation_p.H246L NM_005941 NP_005932 P51512 MMP16_HUMAN matrix metalloproteinase 16 isoform 1 246 Extracellular (Potential). Zinc; catalytic (By similarity). collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1) 8 TCCCAGTTCATGGACTGCTAC 0.383 NA 8 17 0 0 0.00308 0 0 VPS13B 157680 broad.mit.edu 37 8 100514053 100514053 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr8:100514053C>T uc003yiv.2 + 26 4120 c.4009C>T c.(4009-4011)CTC>TTC p.L1337F VPS13B_uc003yiw.2_Missense_Mutation_p.L1337F|VPS13B_uc003yiu.1_Missense_Mutation_p.L1337F|VPS13B_uc003yix.1_Missense_Mutation_p.L807F NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 1337 protein transport ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1) 20 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) TACTATAAAGCTCTTTGCTCC 0.313 Colon(161;2205 2542 7338 31318) NA 11 89 0 0 0.008291 0 0 RIMS2 9699 broad.mit.edu 37 8 104987722 104987722 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr8:104987722C>T uc003yls.2 + 14 2490 c.2249C>T c.(2248-2250)CCT>CTT p.P750L RIMS2_uc003ylp.2_Missense_Mutation_p.P972L|RIMS2_uc003ylw.2_Missense_Mutation_p.P764L|RIMS2_uc003ylq.2_Missense_Mutation_p.P764L|RIMS2_uc003ylr.2_Missense_Mutation_p.P811L|RIMS2_uc003ylt.2_Missense_Mutation_p.P357L NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 1034 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) CCCAGTGTCCCTCCTCCACAA 0.328 NA HNSCC(12;0.0054) 3 13 0 0 0.004672 0 0 ANGPT1 284 broad.mit.edu 37 8 108315484 108315484 + Missense_Mutation SNP A A G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr8:108315484A>G uc003ymn.2 - 5 1388 c.920T>C c.(919-921)ATG>ACG p.M307T ANGPT1_uc011lhv.1_Missense_Mutation_p.M107T|ANGPT1_uc003ymo.2_Missense_Mutation_p.M306T|ANGPT1_uc003ymp.3_Missense_Mutation_p.M106T NM_001146 NP_001137 Q15389 ANGP1_HUMAN angiopoietin 1 precursor 307 Fibrinogen C-terminal. activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway extracellular space|membrane raft|microvillus|plasma membrane receptor tyrosine kinase binding ovary(3)|skin(3)|upper_aerodigestive_tract(1) 7 Breast(1;5.06e-08) OV - Ovarian serous cystadenocarcinoma(57;5.53e-09) GGGTTCTGGCATATTATTAAT 0.348 NA 4 24 0 0 0.000602 0 0 NUDCD1 84955 broad.mit.edu 37 8 110305589 110305589 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr8:110305589G>C uc003ynb.3 - 4 735 c.624C>G c.(622-624)ATC>ATG p.I208M NUDCD1_uc003yna.2_Missense_Mutation_p.I179M|NUDCD1_uc010mcl.2_Missense_Mutation_p.I121M|NUDCD1_uc010mcm.1_Missense_Mutation_p.I121M NM_032869 NP_116258 Q96RS6 NUDC1_HUMAN NudC domain containing 1 isoform 1 208 ovary(1)|breast(1) 2 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;1.56e-12) TTTTCTTACTGATAGTGACCC 0.363 NA 4 46 0 0 0.009096 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110457536 110457536 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr8:110457536G>A uc003yne.2 + 38 5542 c.5438G>A c.(5437-5439)AGT>AAT p.S1813N NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 1813 Extracellular (Potential).|IPT/TIG 10. immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) CATTCTGTTAGTGTTGTGGTG 0.468 NA HNSCC(38;0.096) 15 35 0 0 0.003163 0 0 CSMD3 114788 broad.mit.edu 37 8 113323366 113323366 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr8:113323366G>C uc003ynu.2 - 50 7885 c.7726C>G c.(7726-7728)CCT>GCT p.P2576A CSMD3_uc003yns.2_Missense_Mutation_p.P1778A|CSMD3_uc003ynt.2_Missense_Mutation_p.P2536A|CSMD3_uc011lhx.1_Missense_Mutation_p.P2472A|CSMD3_uc003ynw.1_Missense_Mutation_p.P287A NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2576 Extracellular (Potential).|Sushi 14. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 TATCCATGAGGTGGGGATTCT 0.403 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 15 34 0 0 0.00245 0 0 CSMD3 114788 broad.mit.edu 37 8 113697836 113697836 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr8:113697836G>C uc003ynu.2 - 15 2440 c.2281C>G c.(2281-2283)CTT>GTT p.L761V CSMD3_uc003yns.2_Missense_Mutation_p.L33V|CSMD3_uc003ynt.2_Missense_Mutation_p.L721V|CSMD3_uc011lhx.1_Missense_Mutation_p.L657V NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 761 Extracellular (Potential).|CUB 4. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 TTGAAAGAAAGATGTATCCGG 0.428 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 11 24 0 0 0.008291 0 0 CSMD3 114788 broad.mit.edu 37 8 114185958 114185958 + Silent SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr8:114185958G>A uc003ynu.2 - 4 861 c.702C>T c.(700-702)ATC>ATT p.I234I CSMD3_uc003ynt.2_Silent_p.I194I|CSMD3_uc011lhx.1_Silent_p.I234I|CSMD3_uc010mcx.1_Silent_p.I234I NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 234 Extracellular (Potential).|Sushi 1. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 TACCTCTACAGATAGGAACAG 0.408 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 23 41 0 0 0.00278 0 0 TRPS1 7227 broad.mit.edu 37 8 116426548 116426548 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr8:116426548C>A uc003ynz.2 - 6 4008 c.3549G>T c.(3547-3549)GAG>GAT p.E1183D TRPS1_uc011lhy.1_Missense_Mutation_p.E1187D|TRPS1_uc003yny.2_Missense_Mutation_p.E1196D|TRPS1_uc010mcy.2_Missense_Mutation_p.E1183D NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN zinc finger transcription factor TRPS1 1183 Transcriptional repressor domain (By similarity).|Mediates interaction with RNF4 (By similarity). negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1) 7 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) CCTTCGTTTTCTCCTTGGAGG 0.413 NA Langer-Giedion_syndrome 12 46 7.03913e-09 8.48905e-09 0.013537 1 0 TRPS1 7227 broad.mit.edu 37 8 116599299 116599299 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr8:116599299C>A uc003ynz.2 - 4 3049 c.2590G>T c.(2590-2592)GGG>TGG p.G864W TRPS1_uc011lhy.1_Missense_Mutation_p.G868W|TRPS1_uc003yny.2_Missense_Mutation_p.G877W|TRPS1_uc010mcy.2_Missense_Mutation_p.G864W NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN zinc finger transcription factor TRPS1 864 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1) 7 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) GGGAGGGCCCCAGACTTCTCT 0.547 NA Langer-Giedion_syndrome 24 72 1.9806e-07 2.31548e-07 0.014323 1 0 COL14A1 7373 broad.mit.edu 37 8 121295936 121295936 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr8:121295936C>G uc003yox.2 + 32 4151 c.3886C>G c.(3886-3888)CCT>GCT p.P1296A COL14A1_uc003yoz.2_Missense_Mutation_p.P261A NM_021110 NP_066933 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 precursor 1296 Nonhelical region (NC4).|TSP N-terminal. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1) 12 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) CCGGATTCTTCCTGACACTCC 0.388 NA 15 67 0 0 0.004007 0 0 WDR67 93594 broad.mit.edu 37 8 124113096 124113096 + Missense_Mutation SNP A A C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr8:124113096A>C uc003ypp.1 + 7 971 c.881A>C c.(880-882)CAG>CCG p.Q294P WDR67_uc011lig.1_Missense_Mutation_p.Q294P|WDR67_uc011lih.1_Missense_Mutation_p.Q184P|WDR67_uc003ypq.1_RNA|WDR67_uc003yps.1_Missense_Mutation_p.Q7P|WDR67_uc003ypo.1_Missense_Mutation_p.Q294P|WDR67_uc003ypr.2_RNA NM_145647 NP_663622 Q96DN5 WDR67_HUMAN WD repeat domain 67 isoform 1 294 centrosome Rab GTPase activator activity skin(1) 1 Lung NSC(37;7e-10)|Ovarian(258;0.0205) STAD - Stomach adenocarcinoma(47;0.00527) ATCAATATGCAGACTTGTAAA 0.353 NA 8 26 0 0 0.00308 0 0 FAM83A 84985 broad.mit.edu 37 8 124219708 124219708 + Missense_Mutation SNP A A C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr8:124219708A>C uc003ypv.2 + 5 3099 c.1085A>C c.(1084-1086)CAC>CCC p.H362P FAM83A_uc003ypw.2_Intron|FAM83A_uc003ypy.2_Intron|FAM83A_uc003ypx.2_Missense_Mutation_p.H362P|FAM83A_uc003ypz.2_Intron NM_032899 NP_116288 Q86UY5 FA83A_HUMAN hypothetical protein LOC84985 isoform a 362 Pro-rich. ovary(3)|skin(1) 4 Lung NSC(37;1.55e-09)|Ovarian(258;0.0205) STAD - Stomach adenocarcinoma(47;0.00527) GCGGCCCCACACCCGCCTCCA 0.766 NA 5 19 0 0 0.00308 0 0 ADCY8 114 broad.mit.edu 37 8 131812783 131812783 + Silent SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr8:131812783C>T uc003ytd.3 - 15 3205 c.2949G>A c.(2947-2949)GTG>GTA p.V983V ADCY8_uc010mds.2_Silent_p.V852V NM_001115 NP_001106 P40145 ADCY8_HUMAN adenylate cyclase 8 983 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding skin(4)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) AGGCAAACATCACCCCAACAG 0.493 NA HNSCC(32;0.087) 17 94 0 0 0.004007 0 0 ADCY8 114 broad.mit.edu 37 8 131955633 131955633 + Silent SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr8:131955633G>C uc003ytd.3 - 4 1573 c.1317C>G c.(1315-1317)CTC>CTG p.L439L ADCY8_uc010mds.2_Silent_p.L439L NM_001115 NP_001106 P40145 ADCY8_HUMAN adenylate cyclase 8 439 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding skin(4)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) AGAGCTCGTTGAGCATCCTGA 0.473 NA HNSCC(32;0.087) 4 19 0 0 0.001168 0 0 DENND3 22898 broad.mit.edu 37 8 142190928 142190928 + Silent SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr8:142190928G>T uc003yvy.2 + 17 2957 c.2679G>T c.(2677-2679)GCG>GCT p.A893A DENND3_uc010mep.2_Silent_p.A854A NM_014957 NP_055772 A2RUS2 DEND3_HUMAN DENN/MADD domain containing 3 893 ovary(1) 1 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) TCCCACAAGCGGTGGACGTGC 0.577 NA 21 60 1.01871e-10 1.25994e-10 0.008871 1 0 BAI1 575 broad.mit.edu 37 8 143623974 143623974 + Missense_Mutation SNP A A G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr8:143623974A>G uc003ywm.2 + 27 4562 c.4379A>G c.(4378-4380)GAG>GGG p.E1460G NM_001702 NP_001693 O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 1460 Cytoplasmic (Potential).|Necessary for interaction with MAGI1. axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1) 8 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) ACCAAGAACGAGAATGTCGCC 0.677 NA 2 3 0 0 0.004672 0 0 LY6K 54742 broad.mit.edu 37 8 143784660 143784660 + Silent SNP A A G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr8:143784660A>G uc011ljv.1 + 3 786 c.369A>G c.(367-369)TTA>TTG p.L123L LY6K_uc011ljw.1_3'UTR|LY6K_uc011ljx.1_3'UTR NM_017527 NP_059997 Q17RY6 LY6K_HUMAN lymphocyte antigen 6 complex, locus K isoform 1 123 UPAR/Ly6. anchored to membrane|cytoplasm|extracellular region|nucleolus|plasma membrane central_nervous_system(1) 1 all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) ACTGCAATTTAGAGGGGCCAC 0.532 NA 11 79 0 0 0.008291 0 0 GML 2765 broad.mit.edu 37 8 143928027 143928027 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr8:143928027C>T uc003yxg.2 + 4 488 c.398C>T c.(397-399)CCA>CTA p.P133L NM_002066 NP_002057 Q99445 GML_HUMAN glycosylphosphatidylinositol anchored molecule 133 UPAR/Ly6. apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|negative regulation of cell proliferation anchored to membrane|extrinsic to membrane|plasma membrane central_nervous_system(2) 2 all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) GAGGAGCTTCCAGAAGGAACT 0.463 NA 14 46 0 0 0.001855 0 0 CYP11B1 1584 broad.mit.edu 37 8 143955876 143955876 + Silent SNP T T A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr8:143955876T>A uc003yxi.2 - 9 1432 c.1425A>T c.(1423-1425)ACA>ACT p.T475T CYP11B1_uc010mex.2_Silent_p.T174T|CYP11B1_uc003yxh.2_Silent_p.T125T|CYP11B1_uc003yxj.2_Silent_p.T409T|CYP11B1_uc010mey.2_Silent_p.T546T NM_000497 NP_000488 P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, 475 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity ovary(3) 3 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Mitotane(DB00648) CTTGGGTTAGTGTCTCCACCT 0.542 NA Familial_Hyperaldosteronism_type_I 29 66 0 0 0.012213 0 0 CYP11B2 1585 broad.mit.edu 37 8 143995833 143995833 + Silent SNP A A G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr8:143995833A>G uc003yxk.1 - 5 804 c.801T>C c.(799-801)GGT>GGC p.G267G NM_000498 NP_000489 P19099 C11B2_HUMAN cytochrome P450, family 11, subfamily B, 267 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity 0 all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Candesartan(DB00796)|Metyrapone(DB01011) TACAGTTGTCACCTGTCCAGG 0.577 NA Familial_Hyperaldosteronism_type_I 7 23 0 0 0.00308 0 0 C8orf31 286122 broad.mit.edu 37 8 144124453 144124453 + Nonsense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr8:144124453C>A uc003yxp.1 + 2 387 c.35C>A c.(34-36)TCA>TAA p.S12* C8orf31_uc003yxq.1_RNA|C8orf31_uc003yxr.1_Intron NM_173687 NP_775958 Q8N9H6 CH031_HUMAN hypothetical protein LOC286122 12 ovary(1) 1 all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) TCCTGCAATTCAGTGAGGCAG 0.607 NA 21 68 4.96729e-08 5.87338e-08 0.008871 1 0 ZC3H3 23144 broad.mit.edu 37 8 144522323 144522323 + Silent SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr8:144522323C>T uc003yyd.2 - 11 2732 c.2703G>A c.(2701-2703)GCG>GCA p.A901A NM_015117 NP_055932 Q8IXZ2 ZC3H3_HUMAN zinc finger CCCH-type containing 3 901 mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus nucleus nucleic acid binding|zinc ion binding skin(1) 1 all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107) TGTTGGAGCACGCTGCTGCTA 0.557 NA 3 11 0 0 0.009096 0 0 OPLAH 26873 broad.mit.edu 37 8 145108219 145108219 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr8:145108219C>G uc003zar.3 - 20 2846 c.2764G>C c.(2764-2766)GAC>CAC p.D922H OPLAH_uc003zas.1_Missense_Mutation_p.G196A NM_017570 NP_060040 O14841 OPLA_HUMAN 5-oxoprolinase (ATP-hydrolysing) 922 5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding 0 all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) L-Glutamic Acid(DB00142) GCACGGAGGTCCGACAGGTTG 0.652 NA 13 37 0 0 0.013537 0 0 ZNF16 7564 broad.mit.edu 37 8 146157923 146157923 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr8:146157923C>T uc003zet.2 - 4 437 c.250G>A c.(250-252)GAA>AAA p.E84K ZNF16_uc003zeu.2_Missense_Mutation_p.E84K NM_001029976 NP_001025147 P17020 ZNF16_HUMAN zinc finger protein 16 84 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(5) 5 all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;0.136) Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486) TCCAAATCTTCATGAATGTCT 0.423 NA 11 67 0 0 0.008291 0 0 DOCK8 81704 broad.mit.edu 37 9 286583 286583 + Silent SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr9:286583G>C uc003zgf.2 + 3 391 c.279G>C c.(277-279)GTG>GTC p.V93V DOCK8_uc011lls.1_Silent_p.V93V|DOCK8_uc010mgu.2_5'UTR|DOCK8_uc010mgv.2_Silent_p.V25V|DOCK8_uc010mgt.2_Silent_p.V25V|DOCK8_uc003zgg.2_Silent_p.V25V|DOCK8_uc003zgh.2_RNA NM_203447 NP_982272 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 93 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(3)|central_nervous_system(3) 6 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) ACTTGGACGTGGTGTTCACGC 0.493 NA 16 13 0 0 0.00499 0 0 DMRT2 10655 broad.mit.edu 37 9 1056458 1056458 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr9:1056458C>A uc003zha.2 + 4 1071 c.871C>A c.(871-873)CCA>ACA p.P291T DMRT2_uc003zgx.3_Missense_Mutation_p.P58T|DMRT2_uc010mgz.2_Missense_Mutation_p.P58T|DMRT2_uc003zgy.3_Missense_Mutation_p.P135T|DMRT2_uc003zhb.3_3'UTR|DMRT2_uc011llt.1_3'UTR|DMRT2_uc011llu.1_3'UTR|DMRT2_uc011llv.1_Missense_Mutation_p.P291T NM_181872 NP_870987 Q9Y5R5 DMRT2_HUMAN doublesex and mab-3 related transcription factor 291 male gonad development|sex determination nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity 0 all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09) Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388) CAGCCCCAGCCCAGTGGAACC 0.483 NA 13 49 1.61879e-10 1.99532e-10 0.013537 1 0 KIAA1432 57589 broad.mit.edu 37 9 5743005 5743005 + Silent SNP A A C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr9:5743005A>C uc003zji.2 + 8 894 c.801A>C c.(799-801)GGA>GGC p.G267G KIAA1432_uc003zjh.2_Silent_p.G267G|KIAA1432_uc003zjl.3_Silent_p.G267G|KIAA1432_uc003zjj.1_5'UTR NM_020829 NP_065880 Q4ADV7 RIC1_HUMAN connexin 43-interacting protein 150 isoform a 346 integral to membrane 0 Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122) CACTTGGAGGAGATTTTGCGT 0.373 NA 4 16 0 0 0.000602 0 0 FAM154A 158297 broad.mit.edu 37 9 18941665 18941665 + Missense_Mutation SNP C C T rs144484870 byFrequency TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr9:18941665C>T uc003zni.1 - 3 669 c.391G>A c.(391-393)GAC>AAC p.D131N FAM154A_uc010mip.1_Intron NM_153707 NP_714918 Q8IYX7 F154A_HUMAN hypothetical protein LOC158297 131 pancreas(1) 1 GBM - Glioblastoma multiforme(50;6.53e-16) TCCATCTTGTCGCTACATGGA 0.493 NA 20 33 0 0 0.010504 0 0 SLC24A2 25769 broad.mit.edu 37 9 19785946 19785946 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr9:19785946C>T uc003zoa.1 - 1 981 c.919G>A c.(919-921)GCC>ACC p.A307T SLC24A2_uc003zob.1_Missense_Mutation_p.A307T NM_020344 NP_065077 Q9UI40 NCKX2_HUMAN solute carrier family 24 307 Cytoplasmic (Potential). visual perception integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity ovary(3) 3 GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443) TTTGCTTGGGCTTCTGGTGCT 0.378 NA 13 39 0 0 0.001855 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971203 21971203 + Missense_Mutation SNP A A C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr9:21971203A>C uc003zpk.2 - 2 367 c.155T>G c.(154-156)ATG>AGG p.M52R MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.H107Q NM_000077 NP_000068 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 1 52 ANK 2. cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding p.0?(1112)|p.?(14)|p.M52K(4)|p.M52I(3)|p.M52fs*68(2)|p.M52fs*2(1)|p.V28_V51del(1)|p.M52L(1) haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1) 3678 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) GCCCATCATCATGACCTGCCA 0.672 17 Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 10 9 0 0 0.010729 0 0 ELAVL2 1993 broad.mit.edu 37 9 23762245 23762245 + Translation_Start_Site SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr9:23762245C>A uc003zpu.2 - 2 263 c.-12G>T c.(-14--10)CAGGT>CATGT ELAVL2_uc003zps.2_Translation_Start_Site|ELAVL2_uc003zpt.2_Translation_Start_Site|ELAVL2_uc003zpv.2_Splice_Site|ELAVL2_uc003zpw.2_Splice_Site NM_004432 NP_004423 Q12926 ELAV2_HUMAN ELAV (embryonic lethal, abnormal vision, regulation of transcription, DNA-dependent mRNA 3'-UTR binding|nucleotide binding|protein binding ovary(2)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19) CAGCAATTACCTGCTAAAAAC 0.393 NA 21 30 4.63292e-17 6.16591e-17 0.008871 1 0 UBAP2 55833 broad.mit.edu 37 9 33927814 33927814 + Silent SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr9:33927814G>A uc003ztq.1 - 20 2465 c.2352C>T c.(2350-2352)GCC>GCT p.A784A UBAP2_uc011loc.1_Silent_p.A693A|UBAP2_uc011lod.1_Silent_p.A517A|UBAP2_uc011loe.1_Silent_p.A539A|UBAP2_uc011lof.1_Silent_p.A709A|UBAP2_uc011log.1_3'UTR|UBAP2_uc003ztn.1_Silent_p.A23A|UBAP2_uc003zto.1_Silent_p.A23A|UBAP2_uc003ztp.1_Silent_p.A23A NM_018449 NP_060919 Q5T6F2 UBAP2_HUMAN ubiquitin associated protein 2 784 ovary(3) 3 LUSC - Lung squamous cell carcinoma(29;0.00575) GBM - Glioblastoma multiforme(74;0.168) CCAAGGGCGCGGCCCTGCTAC 0.652 NA 4 98 0 0 0.000602 0 0 UNC13B 10497 broad.mit.edu 37 9 35370326 35370326 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr9:35370326G>T uc003zwq.2 + 12 1518 c.1226G>T c.(1225-1227)GGG>GTG p.G409V UNC13B_uc010mkl.1_Missense_Mutation_p.G417C|UNC13B_uc003zwr.2_Missense_Mutation_p.G409V NM_006377 NP_006368 O14795 UN13B_HUMAN UNC13 (C. elegans)-like 409 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) CCAGCCGGAGGGCTCTATGGC 0.512 NA 12 28 5.16669e-11 6.42297e-11 0.010729 1 0 TLN1 7094 broad.mit.edu 37 9 35719611 35719611 + Nonsense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr9:35719611C>T uc003zxt.2 - 15 1946 c.1592G>A c.(1591-1593)TGG>TAG p.W531* NM_006289 NP_006280 Q9Y490 TLN1_HUMAN talin 1 531 axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding lung(7)|breast(3)|ovary(2)|central_nervous_system(1) 13 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) GTTTTTACGCCAGGCCTTAGA 0.512 NA 17 76 0 0 0.004007 0 0 POLR1E 64425 broad.mit.edu 37 9 37486630 37486630 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr9:37486630C>T uc003zzz.1 + 1 481 c.193C>T c.(193-195)CCA>TCA p.P65S POLR1E_uc011lqj.1_Intron|POLR1E_uc003zzy.1_Intron|POLR1E_uc011lqk.1_Intron NM_022490 NP_071935 Q9GZS1 RPA49_HUMAN RNA polymerase I associated factor 53 65 rRNA transcription cell junction|cytoplasm|nucleolus DNA binding|DNA-directed RNA polymerase activity|protein binding 0 GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229) CAGTCTAGTCCCACCgtacat 0.498 Ovarian(116;843 1620 18506 32459 34463) NA 15 42 0 0 0.003163 0 0 TRPM3 80036 broad.mit.edu 37 9 73213554 73213554 + Silent SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr9:73213554C>T uc004aid.2 - 20 3037 c.2793G>A c.(2791-2793)CAG>CAA p.Q931Q TRPM3_uc004ahu.2_Silent_p.Q761Q|TRPM3_uc004ahv.2_Silent_p.Q733Q|TRPM3_uc004ahw.2_Silent_p.Q803Q|TRPM3_uc004ahx.2_Silent_p.Q790Q|TRPM3_uc004ahy.2_Silent_p.Q793Q|TRPM3_uc004ahz.2_Silent_p.Q780Q|TRPM3_uc004aia.2_Silent_p.Q778Q|TRPM3_uc004aib.2_Silent_p.Q768Q|TRPM3_uc004aic.2_Silent_p.Q931Q NM_001007471 NP_001007472 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, 956 Cytoplasmic (Potential). integral to membrane calcium channel activity ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2) 9 CCTTCACTTTCTGTAGCAACT 0.493 NA 14 58 0 0 0.00245 0 0 FLJ43950 347127 broad.mit.edu 37 9 84530475 84530475 + Silent SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr9:84530475C>T uc011lst.1 + 4 497 c.396C>T c.(394-396)TCC>TCT p.S132S NR_026851 SubName: Full=cDNA FLJ43950 fis, clone TESTI4015293, moderately similar to FAM75-like protein; 0 CCTTTGTGTCCCCTTTGGCTT 0.532 NA 11 12 0 0 0.013537 0 0 FRMD3 257019 broad.mit.edu 37 9 85863297 85863297 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr9:85863297C>T uc004ams.1 - 14 1532 c.1330G>A c.(1330-1332)GAA>AAA p.E444K FRMD3_uc004amr.1_Missense_Mutation_p.E430K|FRMD3_uc004amq.1_Missense_Mutation_p.E101K NM_174938 NP_777598 A2A2Y4 FRMD3_HUMAN FERM domain containing 3 444 cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane cytoskeletal protein binding ovary(1)|central_nervous_system(1) 2 TACACTAGTTCAGAGATGGTT 0.493 NA 20 41 0 0 0.007413 0 0 SLC28A3 64078 broad.mit.edu 37 9 86902971 86902971 + Missense_Mutation SNP C C A rs148078245 byFrequency TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr9:86902971C>A uc010mpz.2 - 12 1397 c.1272G>T c.(1270-1272)ATG>ATT p.M424I SLC28A3_uc011lsy.1_Missense_Mutation_p.M355I|SLC28A3_uc004anu.1_Missense_Mutation_p.M424I NM_022127 NP_071410 Q9HAS3 S28A3_HUMAN concentrative Na+-nucleoside cotransporter 424 Extracellular (Potential). nucleobase, nucleoside and nucleotide metabolic process integral to membrane|plasma membrane nucleoside binding upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|skin(1) 4 ACCCACTTTCCATTTTCATGG 0.458 Ovarian(106;425 1539 34835 42413 43572) NA 34 43 4.65686e-17 6.19209e-17 0.003755 1 0 FAM75C1 441452 broad.mit.edu 37 9 90535364 90535364 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr9:90535364C>G uc010mqi.2 + 4 571 c.542C>G c.(541-543)CCA>CGA p.P181R FAM75C1_uc004apq.3_Missense_Mutation_p.P164R NM_001145124 NP_001138596 family with sequence similarity 75, member C1 0 GCCTCCACCCCACCACCAGGC 0.607 NA 71 110 0 0 0.01441 0 0 SYK 6850 broad.mit.edu 37 9 93650153 93650153 + Nonsense_Mutation SNP T T G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr9:93650153T>G uc004aqz.2 + 12 1909 c.1704T>G c.(1702-1704)TAT>TAG p.Y568* SYK_uc004ara.2_Nonsense_Mutation_p.Y545*|SYK_uc004arb.2_Nonsense_Mutation_p.Y545*|SYK_uc004arc.2_Nonsense_Mutation_p.Y568*|SYK_uc011ltr.1_RNA|SYK_uc011lts.1_RNA|SYK_uc011ltt.1_RNA NM_003177 NP_003168 P43405 KSYK_HUMAN spleen tyrosine kinase isoform 1 568 Protein kinase. cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly cytosol|T cell receptor complex ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity lung(2)|stomach(1)|ovary(1)|skin(1) 5 CATTCTCCTATGGGCAGAAGC 0.468 NA T ETV6|ITK MDS|peripheral T-cell lymphoma 8 98 0 0 0.00245 0 0 FGD3 89846 broad.mit.edu 37 9 95773525 95773525 + Missense_Mutation SNP A A T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr9:95773525A>T uc004asw.2 + 8 1634 c.1006A>T c.(1006-1008)AAC>TAC p.N336Y FGD3_uc004asx.2_Missense_Mutation_p.N336Y|FGD3_uc004asz.2_Missense_Mutation_p.N336Y|FGD3_uc004ata.2_Missense_Mutation_p.N139Y NM_001083536 NP_001077005 Q5JSP0 FGD3_HUMAN FYVE, RhoGEF and PH domain containing 3 336 DH. 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|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(1)|breast(1) 2 CACAGCCGCCAACCACTCCAA 0.637 NA 4 79 0 0 0.009096 0 0 WNK2 65268 broad.mit.edu 37 9 96025976 96025976 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr9:96025976G>T uc004ati.1 + 14 3539 c.3539G>T c.(3538-3540)CGG>CTG p.R1180L WNK2_uc011lud.1_Missense_Mutation_p.R1180L|WNK2_uc004atj.2_Missense_Mutation_p.R1180L|WNK2_uc004atk.2_Missense_Mutation_p.R817L NM_006648 NP_006639 Q9Y3S1 WNK2_HUMAN WNK lysine deficient protein kinase 2 1180 intracellular protein kinase cascade ATP binding|protein binding|protein serine/threonine kinase activity lung(4)|stomach(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)|breast(1) 12 GCGCGCTCCCGGCAGGAGAGG 0.537 NA 3 3 0.004672 0.004818 0.004672 1 0 PTCH1 5727 broad.mit.edu 37 9 98242849 98242849 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr9:98242849C>G uc004avk.3 - 6 956 c.768G>C c.(766-768)TGG>TGC p.W256C PTCH1_uc010mro.2_Missense_Mutation_p.W105C|PTCH1_uc010mrp.2_Missense_Mutation_p.W105C|PTCH1_uc010mrq.2_Missense_Mutation_p.W105C|PTCH1_uc004avl.3_Missense_Mutation_p.W105C|PTCH1_uc010mrr.2_Missense_Mutation_p.W190C|PTCH1_uc004avm.3_Missense_Mutation_p.W255C|PTCH1_uc010mrs.1_5'UTR|PTCH1_uc010mrt.1_RNA|PTCH1_uc010mru.1_RNA NM_000264 NP_000255 Q13635 PTC1_HUMAN patched isoform L 256 Extracellular (Potential). embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway integral to plasma membrane hedgehog receptor activity p.W256*(1) skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1) 379 Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136) CGAAGTTTGTCCACCGCAAAG 0.458 NA Basal_Cell_Nevus_syndrome 14 40 0 0 0.00245 0 0 HABP4 22927 broad.mit.edu 37 9 99227767 99227767 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr9:99227767G>T uc010msg.2 + 3 809 c.661G>T c.(661-663)GGG>TGG p.G221W HABP4_uc010msh.2_Intron NM_014282 NP_055097 Q5JVS0 HABP4_HUMAN hyaluronan binding protein 4 221 platelet activation|platelet degranulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|extracellular region|nucleus protein binding ovary(1) 1 Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214) AAGATATGGTGGGAATGACAA 0.418 NA 26 50 3.65163e-15 4.77672e-15 0.00632 1 0 ZNF189 7743 broad.mit.edu 37 9 104171922 104171922 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr9:104171922G>T uc004bbh.1 + 3 2148 c.1872G>T c.(1870-1872)TGG>TGT p.W624C ZNF189_uc004bbg.1_Missense_Mutation_p.W582C|ZNF189_uc004bbi.1_Missense_Mutation_p.W610C|ZNF189_uc011lvk.1_Missense_Mutation_p.W609C NM_003452 NP_003443 O75820 ZN189_HUMAN zinc finger protein 189 isoform 1 624 negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(2)|kidney(1)|central_nervous_system(1) 6 Acute lymphoblastic leukemia(62;0.0559) ACACAGCATGGATGCAATAAA 0.393 NA 7 23 2.0095e-06 2.28488e-06 0.001984 1 0 GRIN3A 116443 broad.mit.edu 37 9 104335781 104335781 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr9:104335781G>A uc004bbp.1 - 9 3624 c.3023C>T c.(3022-3024)CCC>CTC p.P1008L GRIN3A_uc004bbo.1_Missense_Mutation_p.P83L NM_133445 NP_597702 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, 1008 Cytoplasmic (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1) 7 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) AAGCTGACGGGGTCCCACATT 0.448 NA 17 47 0 0 0.004007 0 0 OR13C3 138803 broad.mit.edu 37 9 107298654 107298654 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr9:107298654C>A uc004bcb.1 - 1 441 c.441G>T c.(439-441)ATG>ATT p.M147I NM_001001961 NP_001001961 Q8NGS6 O13C3_HUMAN olfactory receptor, family 13, subfamily C, 147 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 CAAATGCCATCATGCCAAGAA 0.463 GBM(86;1248 1274 14222 15028 46219) NA 33 53 9.04072e-19 1.21323e-18 0.003271 1 0 DFNB31 25861 broad.mit.edu 37 9 117228579 117228579 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr9:117228579G>A uc004biz.3 - 3 1580 c.931C>T c.(931-933)CCA>TCA p.P311S DFNB31_uc004biy.3_5'UTR|DFNB31_uc004bja.3_Missense_Mutation_p.P311S NM_015404 NP_056219 Q9P202 WHRN_HUMAN CASK-interacting protein CIP98 isoform 1 311 PDZ 2. inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound cytoplasm|growth cone|stereocilium ovary(4)|central_nervous_system(1)|pancreas(1) 6 TCAGAGCCTGGGTCCACGCCA 0.602 NA 37 56 0 0 0.004878 0 0 OR1N2 138882 broad.mit.edu 37 9 125315507 125315507 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr9:125315507G>C uc011lyx.1 + 1 59 c.59G>C c.(58-60)AGA>ACA p.R20T NM_001004457 NP_001004457 Q8NGR9 OR1N2_HUMAN olfactory receptor, family 1, subfamily N, 20 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(2) 4 AAACCAGGCAGAGTGAACCAA 0.413 NA 13 47 0 0 0.001855 0 0 OR1L4 254973 broad.mit.edu 37 9 125486593 125486593 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr9:125486593G>A uc004bmu.1 + 1 325 c.325G>A c.(325-327)GGG>AGG p.G109R NM_001005235 NP_001005235 Q8NGR5 OR1L4_HUMAN olfactory receptor, family 1, subfamily L, 109 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CATGGCATTTGGGAACACTGA 0.473 NA 41 54 0 0 0.006999 0 0 GOLGA1 2800 broad.mit.edu 37 9 127651448 127651448 + Nonsense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr9:127651448C>A uc004bpc.2 - 18 2077 c.1735G>T c.(1735-1737)GAA>TAA p.E579* GOLGA1_uc010mws.2_RNA NM_002077 NP_002068 Q92805 GOGA1_HUMAN golgin 97 579 Potential. Golgi cisterna membrane ovary(1) 1 GAGAGTGCTTCGGCCTGCAAT 0.657 NA 26 32 8.24728e-16 1.0847e-15 0.004656 1 0 COL5A1 1289 broad.mit.edu 37 9 137688241 137688241 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr9:137688241C>T uc004cfe.2 + 35 3203 c.2821C>T c.(2821-2823)CCA>TCA p.P941S NM_000093 NP_000084 P20908 CO5A1_HUMAN alpha 1 type V collagen preproprotein 941 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1) 11 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) AGGTGACGGCCCAGCTGGCCC 0.577 NA 33 54 0 0 0.012213 0 0 ARRDC1 92714 broad.mit.edu 37 9 140508500 140508500 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr9:140508500C>G uc004cns.2 + 5 526 c.452C>G c.(451-453)TCT>TGT p.S151C ARRDC1_uc004cnt.2_Missense_Mutation_p.S26C|ARRDC1_uc004cnu.2_RNA|ARRDC1_uc004cnv.2_Missense_Mutation_p.S131C|ARRDC1_uc004cnw.2_Missense_Mutation_p.S26C|ARRDC1_uc004cnp.1_Missense_Mutation_p.S151C|ARRDC1_uc004cnq.1_Missense_Mutation_p.S133C|ARRDC1_uc011mfb.1_Missense_Mutation_p.S26C|ARRDC1_uc004cnx.1_Missense_Mutation_p.S26C|ARRDC1_uc004cny.2_RNA NM_152285 NP_689498 Q8N5I2 ARRD1_HUMAN arrestin domain containing 1 151 0 all_cancers(76;0.106) OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464) AACGTGGCCTCTGCCACCAAG 0.652 NA 25 80 0 0 0.003954 0 0 SLC25A6 293 broad.mit.edu 37 X 1508207 1508207 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chrX:1508207C>G uc004cpt.2 - 2 621 c.525G>C c.(523-525)CAG>CAC p.Q175H SLC25A6_uc004cpu.2_RNA NM_001636 NP_001627 P12236 ADT3_HUMAN adenine nucleotide translocator 3 175 Solcar 2. active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle integral to membrane|mitochondrial inner membrane presequence translocase complex ATP:ADP antiporter activity|protein binding 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) Clodronate(DB00720) CACTGAAGCCCTGGTACAGGC 0.567 NA 34 121 0 0 0.012213 0 0 SLC25A6 293 broad.mit.edu 37 X 1508329 1508329 + Missense_Mutation SNP C C G rs140307739 TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chrX:1508329C>G uc004cpt.2 - 2 499 c.403G>C c.(403-405)GAT>CAT p.D135H SLC25A6_uc004cpu.2_RNA NM_001636 NP_001627 P12236 ADT3_HUMAN adenine nucleotide translocator 3 135 Solcar 2.|Helical; Name=3; (By similarity). active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle integral to membrane|mitochondrial inner membrane presequence translocase complex ATP:ADP antiporter activity|protein binding 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) Clodronate(DB00720) CTGGCGAAATCCAGCGGGTAC 0.657 NA 29 132 0 0 0.010818 0 0 DHRSX 207063 broad.mit.edu 37 X 2209550 2209550 + Silent SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chrX:2209550G>A uc004cqf.3 - 4 430 c.381C>T c.(379-381)ATC>ATT p.I127I NM_145177 NP_660160 Q8N5I4 DHRSX_HUMAN dehydrogenase/reductase (SDR family) X-linked 127 binding|oxidoreductase activity 0 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) CACCATTGTTGATCAGGACAT 0.443 NA 14 47 0 0 0.00245 0 0 ASB9 140462 broad.mit.edu 37 X 15268584 15268584 + Missense_Mutation SNP T T C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chrX:15268584T>C uc004cwl.2 - 5 783 c.536A>G c.(535-537)CAG>CGG p.Q179R ASB9_uc004cwk.2_Missense_Mutation_p.Q179R|ASB9_uc004cwm.2_Missense_Mutation_p.Q169R|ASB9_uc010ner.2_Missense_Mutation_p.Q179R|ASB9_uc004cwn.2_Missense_Mutation_p.Q150R NM_001031739 NP_001026909 Q96DX5 ASB9_HUMAN ankyrin repeat and SOCS box-containing 9 isoform 179 ANK 5. intracellular signal transduction 0 Hepatocellular(33;0.183) ACAGGCTCTCTGTTGGTTTTC 0.403 NA 17 48 0 0 0.007413 0 0 MAGEB6 158809 broad.mit.edu 37 X 26212971 26212971 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chrX:26212971G>T uc004dbr.2 + 2 1157 c.1008G>T c.(1006-1008)TTG>TTT p.L336F MAGEB6_uc010ngc.1_Missense_Mutation_p.L116F NM_173523 NP_775794 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 336 MAGE. ovary(3) 3 CTGAAGATTTGGTGCAAGATA 0.498 NA 27 90 6.00712e-18 8.01686e-18 0.012213 1 0 FTHL17 53940 broad.mit.edu 37 X 31089993 31089993 + Silent SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chrX:31089993C>T uc004dcl.1 - 1 181 c.78G>A c.(76-78)ACG>ACA p.T26T NM_031894 NP_114100 Q9BXU8 FHL17_HUMAN ferritin, heavy polypeptide-like 17 26 Ferritin-like diiron. cellular iron ion homeostasis|iron ion transport ferric iron binding|oxidoreductase activity 0 AGAGCTCCAGCGTGATGTGGC 0.627 NA 19 51 0 0 0.007413 0 0 DUSP21 63904 broad.mit.edu 37 X 44703735 44703735 + Silent SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chrX:44703735G>A uc004dgd.2 + 1 487 c.357G>A c.(355-357)GCG>GCA p.A119A NM_022076 NP_071359 Q9H596 DUS21_HUMAN dual specificity phosphatase 21 119 Tyrosine-protein phosphatase.|Sufficient for mitochondrial localization (By similarity). cytoplasm|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity large_intestine(1)|lung(1) 2 TGTGCCTTGCGTACCTCATGA 0.587 NA 16 47 0 0 0.00499 0 0 PQBP1 10084 broad.mit.edu 37 X 48758546 48758546 + Silent SNP A A C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chrX:48758546A>C uc004dle.2 + 3 336 c.147A>C c.(145-147)CCA>CCC p.P49P PQBP1_uc004dlf.2_Silent_p.P49P|PQBP1_uc004dlg.2_Silent_p.P49P|PQBP1_uc004dld.2_RNA|PQBP1_uc004dlh.2_Silent_p.P49P|PQBP1_uc004dli.2_Silent_p.P49P|PQBP1_uc004dlj.1_Silent_p.P49P|PQBP1_uc004dln.2_Silent_p.P49P|PQBP1_uc010nih.2_RNA|PQBP1_uc010nii.2_5'UTR|PQBP1_uc004dlk.2_Silent_p.P49P|PQBP1_uc004dll.2_Missense_Mutation_p.H17P|PQBP1_uc004dlm.2_5'UTR|PQBP1_uc010nij.2_Silent_p.P49P NM_001032382 NP_001027554 O60828 PQBP1_HUMAN polyglutamine binding protein 1 49 WW. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|transcription coactivator activity large_intestine(1) 1 AGGGCCTACCACCAAGCTGGT 0.557 NA 4 7 0 0 0.009096 0 0 PHKA1 5255 broad.mit.edu 37 X 71800926 71800926 + Missense_Mutation SNP T T C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chrX:71800926T>C uc004eax.3 - 32 3899 c.3598A>G c.(3598-3600)ATG>GTG p.M1200V PHKA1_uc004eay.3_Missense_Mutation_p.M1187V|PHKA1_uc011mqi.1_Missense_Mutation_p.M1128V|PHKA1_uc010nll.2_Missense_Mutation_p.M232V NM_002637 NP_002628 P46020 KPB1_HUMAN phosphorylase kinase, alpha 1 (muscle) isoform 1200 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity ovary(3)|skin(1) 4 Renal(35;0.156) AGGTAGGTCATGGTGCCAAAC 0.562 NA 5 15 0 0 0.001168 0 0 MAGEE2 139599 broad.mit.edu 37 X 75003878 75003878 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chrX:75003878G>T uc004ecj.1 - 1 1194 c.1009C>A c.(1009-1011)CTA>ATA p.L337I NM_138703 NP_619648 Q8TD90 MAGE2_HUMAN melanoma antigen family E, 2 337 MAGE 2. ovary(1)|skin(1) 2 TGAGCCAATAGCTCATCCTGA 0.418 NA 11 38 0.00829132 0.00852017 0.008291 1 0 KLHL4 56062 broad.mit.edu 37 X 86868907 86868907 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chrX:86868907G>C uc004efb.2 + 2 632 c.450G>C c.(448-450)ATG>ATC p.M150I KLHL4_uc004efa.2_Missense_Mutation_p.M150I NM_019117 NP_061990 Q9C0H6 KLHL4_HUMAN kelch-like 4 isoform 1 150 cytoplasm|microtubule cytoskeleton|nucleolus actin binding ovary(2)|lung(1)|breast(1)|central_nervous_system(1) 5 CTGAAGACATGAATGCCACCA 0.333 NA 5 9 0 0 0.001168 0 0 NAP1L3 4675 broad.mit.edu 37 X 92927019 92927019 + Missense_Mutation SNP T T C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chrX:92927019T>C uc004efq.2 - 1 1590 c.1285A>G c.(1285-1287)ATC>GTC p.I429V FAM133A_uc004efr.1_5'Flank NM_004538 NP_004529 Q99457 NP1L3_HUMAN nucleosome assembly protein 1-like 3 429 nucleosome assembly chromatin assembly complex ovary(1)|skin(1) 2 CTTGGCTGGATTTCAATTTCT 0.433 NA 4 2 0 0 0.009096 0 0 DIAPH2 1730 broad.mit.edu 37 X 96220166 96220166 + Silent SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chrX:96220166C>T uc004efu.3 + 17 2406 c.2010C>T c.(2008-2010)CTC>CTT p.L670L DIAPH2_uc004eft.3_Silent_p.L670L NM_006729 NP_006720 O60879 DIAP2_HUMAN diaphanous 2 isoform 156 670 FH2. cell differentiation|cytokinesis|multicellular organismal development|oogenesis cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus receptor binding|Rho GTPase binding ovary(3)|lung(1) 4 ATCCAGATCTCTTTGCCAAAT 0.303 NA 3 6 0 0 0.009096 0 0 MCART6 401612 broad.mit.edu 37 X 103349497 103349497 + Missense_Mutation SNP T T G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chrX:103349497T>G uc004elu.2 - 2 625 c.444A>C c.(442-444)CAA>CAC p.Q148H NM_001012755 NP_001012773 Q5H9E4 MCAR6_HUMAN mitochondrial carrier triple repeat 6 148 Solcar 2. transport integral to membrane|mitochondrial inner membrane 0 GGAAGCGAGCTTGCTTGCGAC 0.587 NA 40 116 0 0 0.00623 0 0 TBC1D8B 54885 broad.mit.edu 37 X 106084040 106084040 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chrX:106084040G>A uc004emo.2 + 10 1810 c.1645G>A c.(1645-1647)GAT>AAT p.D549N MORC4_uc004emp.3_Intron|TBC1D8B_uc004emn.2_Missense_Mutation_p.D549N NM_017752 NP_060222 Q0IIM8 TBC8B_HUMAN TBC1 domain family, member 8B (with GRAM domain) 549 Rab-GAP TBC. intracellular calcium ion binding|Rab GTPase activator activity ovary(2)|central_nervous_system(1)|skin(1) 4 CTTTCAGAGTGATACTGGCAT 0.473 NA 22 35 0 0 0.014323 0 0 COL4A6 1288 broad.mit.edu 37 X 107554022 107554023 + Missense_Mutation DNP CC CC AA TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chrX:107554022_107554023CC>AA uc004enw.3 - 3 205_206 c.102_103GG>TT c.(100-105)CAGGAC>CATTAC p.34_35QD>HY COL4A6_uc004env.3_Missense_Mutation_p.33_34QD>HY|COL4A6_uc011msn.1_Missense_Mutation_p.33_34QD>HY|COL4A6_uc010npk.2_Missense_Mutation_p.33_34QD>HY|COL4A6_uc004enx.2_RNA|COL4A6_uc004eny.2_RNA NM_001847 NP_001838 Q14031 CO4A6_HUMAN type IV alpha 6 collagen isoform A precursor 34_35 7S domain. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding ovary(6)|urinary_tract(1)|large_intestine(1) 8 CCACTGCAGTCCTGGCCCCCAC 0.436 Melanoma(87;1895 1945 2589 7165) NA Alport_syndrome_with_Diffuse_Leiomyomatosis 10 45 0 0 0.004672 0 0 HTR2C 3358 broad.mit.edu 37 X 113965884 113965884 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chrX:113965884C>A uc004epu.1 + 4 945 c.217C>A c.(217-219)CTT>ATT p.L73I HTR2C_uc010nqc.1_Missense_Mutation_p.L73I|HTR2C_uc004epv.1_Missense_Mutation_p.L73I NM_000868 NP_000859 P28335 5HT2C_HUMAN 5-hydroxytryptamine (serotonin) receptor 2C 73 Helical; Name=1; (By similarity). cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission cytoplasm|integral to membrane|nucleus|plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity ovary(3) 3 Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246) TGGCAACATCCTTGTGATCAT 0.443 NA 15 36 2.31682e-05 2.54658e-05 0.003163 1 0 ODZ1 10178 broad.mit.edu 37 X 123556156 123556156 + Silent SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chrX:123556156G>A uc004euj.2 - 23 4480 c.4416C>T c.(4414-4416)GAC>GAT p.D1472D ODZ1_uc011muj.1_Silent_p.D1478D|ODZ1_uc010nqy.2_Silent_p.D1479D NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 1472 Extracellular (Potential). immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 23 CAATTTTGCAGTCACAGTCAG 0.448 NA 18 42 0 0 0.00499 0 0 DCAF12L2 340578 broad.mit.edu 37 X 125298590 125298590 + Nonsense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chrX:125298590C>A uc004euk.1 - 1 1345 c.1318G>T c.(1318-1320)GAG>TAG p.E440* NM_001013628 NP_001013650 Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 440 lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1) 7 AGCTTCATCTCCGGCCAGTTG 0.577 NA 34 86 6.53348e-20 8.80836e-20 0.003755 1 0 FHL1 2273 broad.mit.edu 37 X 135288688 135288688 + Missense_Mutation SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chrX:135288688G>C uc004ezo.2 + 2 197 c.97G>C c.(97-99)GAC>CAC p.D33H FHL1_uc010nrz.2_Missense_Mutation_p.D33H|FHL1_uc004ezm.2_RNA|FHL1_uc004ezl.2_Missense_Mutation_p.D33H|FHL1_uc004ezq.2_Missense_Mutation_p.D33H|FHL1_uc011mvy.1_Missense_Mutation_p.D33H|FHL1_uc011mvz.1_Missense_Mutation_p.D33H|FHL1_uc004ezn.2_Missense_Mutation_p.D33H|FHL1_uc011mwa.1_Missense_Mutation_p.D62H|FHL1_uc011mwb.1_RNA|FHL1_uc004ezp.2_Missense_Mutation_p.D49H|FHL1_uc004ezr.2_5'Flank NM_001159702 NP_001153174 Q13642 FHL1_HUMAN four and a half LIM domains 1 isoform 1 33 cell differentiation|cell growth|muscle organ development|organ morphogenesis cytosol|nucleus|plasma membrane protein binding|zinc ion binding 0 Acute lymphoblastic leukemia(192;0.000127) GAAATGCTTTGACAAGTTCTG 0.557 NA 62 135 0 0 0.01441 0 0 GPR112 139378 broad.mit.edu 37 X 135431523 135431523 + Silent SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chrX:135431523C>T uc004ezu.1 + 6 5949 c.5658C>T c.(5656-5658)CCC>CCT p.P1886P GPR112_uc010nsb.1_Silent_p.P1681P|GPR112_uc010nsc.1_Silent_p.P1653P NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 1886 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) GGAACATACCCACAGCTGAAG 0.443 NA 22 48 0 0 0.012319 0 0 ZIC3 7547 broad.mit.edu 37 X 136649681 136649681 + Silent SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chrX:136649681G>A uc004fak.2 + 1 1336 c.831G>A c.(829-831)GAG>GAA p.E277E NM_003413 NP_003404 O60481 ZIC3_HUMAN zinc finger protein of the cerebellum 3 277 C2H2-type 1; atypical. cell differentiation|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|breast(1) 3 Acute lymphoblastic leukemia(192;0.000127) CCATGCATGAGCTGGTGACAC 0.617 NA 23 69 0 0 0.014323 0 0 MAGEC1 9947 broad.mit.edu 37 X 140995104 140995104 + Silent SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chrX:140995104C>A uc004fbt.2 + 4 2200 c.1914C>A c.(1912-1914)TCC>TCA p.S638S MAGEC1_uc010nsl.1_Intron NM_005462 NP_005453 O60732 MAGC1_HUMAN melanoma antigen family C, 1 638 protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) CCACTCCATCCAGTCTTCCCC 0.567 NA HNSCC(15;0.026) 76 182 3.4779e-39 4.87914e-39 0.01441 1 0 SLITRK4 139065 broad.mit.edu 37 X 142716437 142716438 + Missense_Mutation DNP CC CC GA TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chrX:142716437_142716438CC>GA uc004fbx.2 - 2 2863_2864 c.2487_2488GG>TC c.(2485-2490)GAGGAG>GATCAG p.829_830EE>DQ SLITRK4_uc004fby.2_Missense_Mutation_p.829_830EE>DQ NM_173078 NP_775101 Q8IW52 SLIK4_HUMAN slit and trk like 4 protein precursor 829_830 Cytoplasmic (Potential). integral to membrane upper_aerodigestive_tract(1)|large_intestine(1) 2 Acute lymphoblastic leukemia(192;6.56e-05) GCTGTTTGCTCCTCAAGGACCT 0.401 NA 7 38 0 0 0.004672 0 0 MAGEA11 4110 broad.mit.edu 37 X 148797297 148797297 + Missense_Mutation SNP A A T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chrX:148797297A>T uc004fdq.2 + 4 328 c.226A>T c.(226-228)AGT>TGT p.S76C HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|MAGEA11_uc004fdr.2_Missense_Mutation_p.S47C NM_005366 NP_005357 P43364 MAGAB_HUMAN melanoma antigen family A, 11 isoform a 76 cytoplasm|nucleus protein binding ovary(2) 2 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) GGAGGACAGGAGTCCCAGGAG 0.502 NA 36 65 0 0 0.003755 0 0 CD99L2 83692 broad.mit.edu 37 X 149999767 149999767 + Splice_Site SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chrX:149999767C>A uc004fel.2 - 2 186 c.68_splice c.e2-1 p.G23_splice CD99L2_uc004fem.2_Splice_Site_p.G23_splice|CD99L2_uc004fen.2_Splice_Site_p.G23_splice|CD99L2_uc004feo.2_Splice_Site|CD99L2_uc011myb.1_Splice_Site_p.G23_splice NM_031462 NP_113650 Q8TCZ2 C99L2_HUMAN CD99 antigen-like 2 isoform E3'-E4'-E3-E4 cell adhesion cell junction|integral to membrane large_intestine(2)|ovary(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) TCCCCAGATCCtaaaaattaa 0.264 NA 14 29 4.36969e-10 5.34523e-10 0.001855 1 0 CNGA2 1260 broad.mit.edu 37 X 150912332 150912332 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chrX:150912332C>A uc004fey.1 + 7 1581 c.1357C>A c.(1357-1359)CGC>AGC p.R453S NM_005140 NP_005131 Q16280 CNGA2_HUMAN cyclic nucleotide gated channel alpha 2 453 Extracellular (Potential). response to stimulus|sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(3) 3 Acute lymphoblastic leukemia(192;6.56e-05) CAAGAAAGTGCGCATCTTCCA 0.418 NA 13 41 9.31168e-06 1.04004e-05 0.001855 1 0 F8 2157 broad.mit.edu 37 X 154133184 154133184 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chrX:154133184C>T uc004fmt.2 - 16 5659 c.5488G>A c.(5488-5490)GAA>AAA p.E1830K F8_uc010nvi.1_5'UTR NM_000132 NP_000123 P00451 FA8_HUMAN coagulation factor VIII isoform a precursor 1830 F5/8 type A 3.|Plastocyanin-like 5. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 11 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) GTTTTGGTTTCATTAGGCTTG 0.418 NA 9 22 0 0 0.004482 0 0 VAMP7 6845 broad.mit.edu 37 X 155171561 155171561 + Silent SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chrX:155171561C>T uc004fnr.2 + 8 783 c.609C>T c.(607-609)ATC>ATT p.I203I VAMP7_uc004fnt.2_Silent_p.I162I|VAMP7_uc011naa.1_Silent_p.I164I|VAMP7_uc011nab.1_Silent_p.I102I|VAMP7_uc004fns.2_Missense_Mutation_p.H181Y|VAMP7_uc011nac.1_Silent_p.I136I NM_005638 NP_005629 P51809 VAMP7_HUMAN vesicle-associated membrane protein 7 isoform 1 203 Helical; Anchor for type IV membrane protein; (Potential). calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane protein binding 0 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) TCATCTATATCATTGTTTCAC 0.348 NA 7 26 0 0 0.001984 0 0 ARID1A 8289 broad.mit.edu 37 1 27097629 27097629 + Frame_Shift_Del DEL G G - TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:27097629delG uc001bmv.1 + 12 3591 c.3218delG c.(3217-3219)TGGfs p.W1073fs ARID1A_uc001bmt.1_Frame_Shift_Del_p.W1073fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.W1073fs|ARID1A_uc001bmw.1_Frame_Shift_Del_p.W690fs|ARID1A_uc001bmx.1_Translation_Start_Site|ARID1A_uc009vsm.1_5'Flank NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 1073 ARID. W->A: Partial loss of DNA-binding activity. Complete loss of activity; when associated with A-1096. 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) AACAAAAAATGGCGGGAACTT 0.488 NA Mis|N|F|S|D clear cell ovarian carcinoma|RCC 13 32 --- --- --- --- NA NA NA NA NA COL9A2 1298 broad.mit.edu 37 1 40777384 40777384 + Frame_Shift_Del DEL C C - TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:40777384delC uc001cfh.1 - 9 491 c.421delG c.(421-423)GACfs p.D141fs COL9A2_uc001cfi.1_5'UTR NM_001852 NP_001843 Q14055 CO9A2_HUMAN alpha 2 type IX collagen precursor 141 Triple-helical region 4 (COL4). axon guidance|skeletal system development collagen type IX p.D141N(1) ovary(2) 2 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;2.08e-17) GGTCCAGGGTCCCCCTGGAAG 0.622 NA 51 65 --- --- --- --- NA NA NA NA NA WLS 79971 broad.mit.edu 37 1 68624901 68624901 + Frame_Shift_Del DEL A A - TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:68624901delA uc001def.1 - 3 680 c.409delT c.(409-411)TCCfs p.S137fs uc001deb.1_Intron|uc001dec.1_Intron|WLS_uc001dee.2_Frame_Shift_Del_p.S135fs|WLS_uc001deg.1_Frame_Shift_Del_p.S46fs|WLS_uc009wbf.1_Frame_Shift_Del_p.S92fs NM_024911 NP_079187 Q5T9L3 WLS_HUMAN G protein-coupled receptor 177 isoform 1 137 Lumenal (Potential).|Interacts with Wnt proteins (By similarity). multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway cytoplasmic vesicle membrane|Golgi membrane|integral to membrane signal transducer activity 0 TAAGCCAGGGAAACGTCCATG 0.438 NA 14 62 --- --- --- --- NA NA NA NA NA CLCA2 9635 broad.mit.edu 37 1 86919069 86919070 + Frame_Shift_Del DEL GC GC - TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 GC GC - - GC GC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr1:86919069_86919070delGC uc001dlr.3 + 13 2335_2336 c.2173_2174delGC c.(2173-2175)GCTfs p.A725fs NM_006536 NP_006527 Q9UQC9 CLCA2_HUMAN chloride channel accessory 2 precursor 725 Extracellular (Potential). cell adhesion basal plasma membrane|cell junction|extracellular region|integral to plasma membrane chloride channel activity ovary(1)|breast(1)|skin(1) 3 Lung NSC(277;0.238) all cancers(265;0.0233)|Epithelial(280;0.0452) TCAGATGAATGCTCCAAGGAAA 0.436 Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642) NA 9 38 --- --- --- --- NA NA NA NA NA ZDHHC16 84287 broad.mit.edu 37 10 99212032 99212036 + Frame_Shift_Del DEL CCCAC CCCAC - TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 CCCAC CCCAC - - CCCAC CCCAC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr10:99212032_99212036delCCCAC uc001knj.2 + 4 778_782 c.429_433delCCCAC c.(427-435)TACCCACCCfs p.Y143fs ZDHHC16_uc001knp.2_Frame_Shift_Del_p.Y143fs|ZDHHC16_uc001knk.2_Frame_Shift_Del_p.Y143fs|ZDHHC16_uc001knl.2_Frame_Shift_Del_p.Y143fs|ZDHHC16_uc001knm.2_Intron|ZDHHC16_uc001knn.2_Frame_Shift_Del_p.Y143fs|ZDHHC16_uc010qow.1_Frame_Shift_Del_p.Y143fs|ZDHHC16_uc009xvq.2_RNA|ZDHHC16_uc001kno.2_Frame_Shift_Del_p.Y143fs|ZDHHC16_uc009xvr.2_Frame_Shift_Del_p.Y143fs NM_198046 NP_932163 Q969W1 ZDH16_HUMAN Abl-philin 2 isoform 1 143_145 Cytoplasmic (Potential). apoptosis endoplasmic reticulum membrane|integral to membrane acyltransferase activity|zinc ion binding ovary(1) 1 Colorectal(252;0.0846) Epithelial(162;5.81e-10)|all cancers(201;4.19e-08) CGCCTGGGTACCCACCCCAGGTGGG 0.546 NA 11 106 --- --- --- --- NA NA NA NA NA PAX2 5076 broad.mit.edu 37 10 102509593 102509593 + Frame_Shift_Del DEL C C - TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr10:102509593delC uc001krk.3 + 2 684 c.134delC c.(133-135)GCCfs p.A45fs PAX2_uc001krl.3_Frame_Shift_Del_p.A45fs|PAX2_uc001krm.3_Frame_Shift_Del_p.A45fs|PAX2_uc001kro.3_Frame_Shift_Del_p.A45fs|PAX2_uc001krn.3_Frame_Shift_Del_p.A45fs|PAX2_uc010qps.1_Frame_Shift_Del_p.A44fs|PAX2_uc001krp.1_Frame_Shift_Del_p.A49fs NM_003990 NP_003981 Q02962 PAX2_HUMAN paired box protein 2 isoform e 45 Paired. anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception centriolar satellite|nucleus|protein complex|protein-DNA complex core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity 0 Colorectal(252;0.234) Epithelial(162;1.32e-08)|all cancers(201;7.32e-07) GTGGAGCTGGCCCACCAGGGT 0.687 NA 9 69 --- --- --- --- NA NA NA NA NA OR51M1 390059 broad.mit.edu 37 11 5411244 5411244 + Frame_Shift_Del DEL T T - TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:5411244delT uc010qzc.1 + 1 616 c.616delT c.(616-618)TTCfs p.F206fs HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001004756 NP_001004756 B2RNI9 B2RNI9_HUMAN olfactory receptor, family 51, subfamily M, 206 integral to membrane olfactory receptor activity 0 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGATATCACCTTCAATAATCT 0.512 NA 18 89 --- --- --- --- NA NA NA NA NA TTC12 54970 broad.mit.edu 37 11 113235648 113235649 + Frame_Shift_Ins INS - - A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:113235648_113235649insA uc001pnu.2 + 21 2013_2014 c.1908_1909insA c.(1906-1911)CCCAACfs p.P636fs TTC12_uc001pnv.2_Frame_Shift_Ins_p.P642fs|TTC12_uc001pnw.2_RNA|TTC12_uc001pnx.2_Frame_Shift_Ins_p.P486fs NM_017868 NP_060338 Q9H892 TTC12_HUMAN tetratricopeptide repeat domain 12 636_637 binding pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 4 all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187) BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694) TGGAGGTGCCCAACGTTGCGTC 0.559 NA 7 92 --- --- --- --- NA NA NA NA NA HTR3A 3359 broad.mit.edu 37 11 113860407 113860407 + Frame_Shift_Del DEL A A - TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr11:113860407delA uc010rxb.1 + 8 1706 c.1473delA c.(1471-1473)CTAfs p.L491fs HTR3A_uc010rxa.1_Frame_Shift_Del_p.L459fs|HTR3A_uc009yyx.2_RNA|HTR3A_uc010rxc.1_Frame_Shift_Del_p.L438fs NM_213621 NP_998786 P46098 5HT3A_HUMAN 5-hydroxytryptamine (serotonin) receptor 3A 453 Cytoplasmic (Potential). digestion|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity 0 all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191) Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199) ACAAGCTGCTATTCCACATTT 0.592 NA 25 118 --- --- --- --- NA NA NA NA NA PDE3A 5139 broad.mit.edu 37 12 20522956 20522956 + Frame_Shift_Del DEL G G - TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr12:20522956delG uc001reh.1 + 1 760 c.738delG c.(736-738)GTGfs p.V246fs NM_000921 NP_000912 Q14432 PDE3A_HUMAN phosphodiesterase 3A 246 Helical; (Potential). lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding ovary(3)|upper_aerodigestive_tract(1) 4 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) TGGCCGGCGTGCTGGGGATCC 0.607 NA 15 53 --- --- --- --- NA NA NA NA NA OR6C4 341418 broad.mit.edu 37 12 55945160 55945160 + Frame_Shift_Del DEL C C - TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr12:55945160delC uc010spp.1 + 1 150 c.150delC c.(148-150)GACfs p.D50fs NM_001005494 NP_001005494 Q8NGE1 OR6C4_HUMAN olfactory receptor, family 6, subfamily C, 50 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CCTTACTAGACCCCCACCTCC 0.418 NA 18 123 --- --- --- --- NA NA NA NA NA NAV3 89795 broad.mit.edu 37 12 78400665 78400665 + Frame_Shift_Del DEL A A - rs35015855 TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr12:78400665delA uc001syp.2 + 8 1520 c.1347delA c.(1345-1347)CCAfs p.P449fs NAV3_uc001syo.2_Frame_Shift_Del_p.P449fs NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 449 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 TGGCCCCTCCAAAAGCTGGAA 0.398 NA HNSCC(70;0.22) 34 59 --- --- --- --- NA NA NA NA NA ARHGEF7 8874 broad.mit.edu 37 13 111767915 111767915 + Frame_Shift_Del DEL G G - rs144455445 TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr13:111767915delG uc001vrs.2 + 1 292 c.42delG c.(40-42)CTGfs p.L14fs ARHGEF7_uc001vrr.2_Frame_Shift_Del_p.L14fs|ARHGEF7_uc001vrt.2_Frame_Shift_Del_p.L14fs NM_001113511 NP_001106983 Q14155 ARHG7_HUMAN PAK-interacting exchange factor beta isoform c 14 CH. apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol protein binding|Rho guanyl-nucleotide exchange factor activity ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1) 7 all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.188) TCATCACTCTGGGGGTGCTGG 0.682 NA 18 47 --- --- --- --- NA NA NA NA NA CPNE6 9362 broad.mit.edu 37 14 24546933 24546933 + Frame_Shift_Del DEL C C - TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr14:24546933delC uc001wll.2 + 16 1767 c.1668delC c.(1666-1668)AGCfs p.S556fs CPNE6_uc010tnv.1_Frame_Shift_Del_p.S611fs|CPNE6_uc001wlm.2_Frame_Shift_Del_p.S381fs|CPNE6_uc001wln.2_3'UTR NM_006032 NP_006023 O95741 CPNE6_HUMAN copine 6 556 lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport calcium ion binding|transporter activity skin(2)|ovary(1) 3 GBM - Glioblastoma multiforme(265;0.0184) CCAGCCCTAGCCCGTGACTGC 0.657 NA 9 50 --- --- --- --- NA NA NA NA NA SYNE2 23224 broad.mit.edu 37 14 64606758 64606758 + Frame_Shift_Del DEL G G - TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr14:64606758delG uc001xgm.2 + 80 15173 c.14943delG c.(14941-14943)TTGfs p.L4981fs SYNE2_uc001xgl.2_Frame_Shift_Del_p.L4981fs|SYNE2_uc010apy.2_Frame_Shift_Del_p.L1366fs|SYNE2_uc001xgn.2_5'UTR|SYNE2_uc001xgo.2_5'Flank NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 4981 Spectrin 1.|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) CTCAGGACTTGGATACAATCA 0.358 NA 41 66 --- --- --- --- NA NA NA NA NA CSNK1G1 53944 broad.mit.edu 37 15 64499783 64499783 + Frame_Shift_Del DEL C C - TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr15:64499783delC uc002anf.2 - 7 1170 c.690delG c.(688-690)CGGfs p.R230fs CSNK1G1_uc002ane.2_RNA|CSNK1G1_uc002ang.1_Frame_Shift_Del_p.R230fs|CSNK1G1_uc002anh.1_Frame_Shift_Del_p.R230fs|CSNK1G1_uc002anj.2_Frame_Shift_Del_p.R212fs NM_022048 NP_071331 Q9HCP0 KC1G1_HUMAN casein kinase 1, gamma 1 230 Protein kinase. Wnt receptor signaling pathway cytoplasm ATP binding|protein serine/threonine kinase activity 0 AATCATCTCTCCGGCTTTGCT 0.453 NA 14 32 --- --- --- --- NA NA NA NA NA ZNF319 57567 broad.mit.edu 37 16 58030897 58030897 + Frame_Shift_Del DEL C C - TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr16:58030897delC uc002emx.1 - 2 1896 c.1273delG c.(1273-1275)GAGfs p.E425fs NM_020807 NP_065858 Q9P2F9 ZN319_HUMAN zinc finger protein 319 425 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AAGGGCCGCTCGGCCGCGCCG 0.662 NA 17 28 --- --- --- --- NA NA NA NA NA WDR7 23335 broad.mit.edu 37 18 54358470 54358471 + Frame_Shift_Ins INS - - T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr18:54358470_54358471insT uc002lgk.1 + 8 952_953 c.741_742insT c.(739-744)TCCTTGfs p.S247fs WDR7_uc010dpk.1_RNA|WDR7_uc002lgl.1_Frame_Shift_Ins_p.S247fs NM_015285 NP_056100 Q9Y4E6 WDR7_HUMAN rabconnectin-3 beta isoform 1 247_248 ovary(2)|skin(1) 3 Lung(128;0.0238)|Colorectal(16;0.0296) GAGACTATTCCTTGTTGTGTTC 0.401 NA 18 73 --- --- --- --- NA NA NA NA NA CDH7 1005 broad.mit.edu 37 18 63547767 63547767 + Frame_Shift_Del DEL G G - rs150661165 TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr18:63547767delG uc002ljz.2 + 12 2320 c.1995delG c.(1993-1995)GCGfs p.A665fs CDH7_uc002lkb.2_Frame_Shift_Del_p.A665fs NM_033646 NP_387450 Q9ULB5 CADH7_HUMAN cadherin 7, type 2 preproprotein 665 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|pancreas(1)|skin(1) 4 Esophageal squamous(42;0.129) ACACGGAAGCGTTTGACATGG 0.488 NA 11 43 --- --- --- --- NA NA NA NA NA SMARCA4 6597 broad.mit.edu 37 19 11138587 11138588 + Frame_Shift_Ins INS - - A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr19:11138587_11138588insA uc002mqf.3 + 24 3627_3628 c.3343_3344insA c.(3343-3345)TACfs p.Y1115fs SMARCA4_uc010dxp.2_Frame_Shift_Ins_p.Y1115fs|SMARCA4_uc010dxo.2_Frame_Shift_Ins_p.Y1115fs|SMARCA4_uc002mqg.1_Frame_Shift_Ins_p.Y1115fs|SMARCA4_uc010dxq.2_Frame_Shift_Ins_p.Y1115fs|SMARCA4_uc010dxr.2_Frame_Shift_Ins_p.Y1115fs|SMARCA4_uc002mqj.3_Frame_Shift_Ins_p.Y1115fs|SMARCA4_uc010dxs.2_Frame_Shift_Ins_p.Y1115fs|SMARCA4_uc010dxt.1_Frame_Shift_Ins_p.Y335fs|SMARCA4_uc002mqh.3_Frame_Shift_Ins_p.Y238fs|SMARCA4_uc002mqi.1_Frame_Shift_Ins_p.Y318fs NM_003072 NP_003063 P51532 SMCA4_HUMAN SWI/SNF-related matrix-associated 1115 Helicase C-terminal. chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(2) lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1) 67 all_lung(6;0.0512)|Lung NSC(9;0.0568) CATGGAAGATTACTTTGCGTAT 0.465 NA F|N|Mis NSCLC Rhabdoid_Predisposition_syndrome 105 135 --- --- --- --- NA NA NA NA NA LDLR 3949 broad.mit.edu 37 19 11238690 11238691 + Frame_Shift_Del DEL GC GC - TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 GC GC - - GC GC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr19:11238690_11238691delGC uc002mqk.3 + 16 2486_2487 c.2318_2319delGC c.(2317-2319)GGCfs p.G773fs LDLR_uc010xlk.1_Frame_Shift_Del_p.G773fs|LDLR_uc010xll.1_Frame_Shift_Del_p.G732fs|LDLR_uc010xlm.1_Frame_Shift_Del_p.G626fs|LDLR_uc010xln.1_Frame_Shift_Del_p.G595fs|LDLR_uc010xlo.1_Frame_Shift_Del_p.G605fs|LDLR_uc010dxu.2_5'UTR NM_000527 NP_000518 P01130 LDLR_HUMAN low density lipoprotein receptor precursor 773 Extracellular (Potential). cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity ovary(2)|skin(2) 4 Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524) GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197) Methyl aminolevulinate(DB00992)|Porfimer(DB00707) GCAGCTCTGGGCGACGTTGCTG 0.624 GBM(18;201 575 7820 21545) NA 14 82 --- --- --- --- NA NA NA NA NA PPFIA3 8541 broad.mit.edu 37 19 49646213 49646225 + Frame_Shift_Del DEL GGAGATGGTCTCG GGAGATGGTCTCG - TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 GGAGATGGTCTCG GGAGATGGTCTCG - - GGAGATGGTCTCG GGAGATGGTCTCG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr19:49646213_49646225delGGAGATGGTCTCG uc002pmr.2 + 21 3029_3041 c.2697_2709delGGAGATGGTCTCG c.(2695-2709)CAGGAGATGGTCTCGfs p.Q899fs PPFIA3_uc010yai.1_RNA|PPFIA3_uc010yaj.1_RNA|PPFIA3_uc002pms.2_Frame_Shift_Del_p.Q767fs|PPFIA3_uc002pmt.2_Frame_Shift_Del_p.Q47fs NM_003660 NP_003651 O75145 LIPA3_HUMAN PTPRF interacting protein alpha 3 899_903 SAM 1. cell surface|cytoplasm protein binding lung(1) 1 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677) TCGCCATCCAGGAGATGGTCTCGCTCACCTCGC 0.648 NA 24 97 --- --- --- --- NA NA NA NA NA ZSCAN1 284312 broad.mit.edu 37 19 58565262 58565268 + Frame_Shift_Del DEL CCCGGGA CCCGGGA - rs144536843 byFrequency TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 CCCGGGA CCCGGGA - - CCCGGGA CCCGGGA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr19:58565262_58565268delCCCGGGA uc002qrc.1 + 6 1317_1323 c.1070_1076delCCCGGGA c.(1069-1077)CCCCGGGAGfs p.P357fs NM_182572 NP_872378 Q8NBB4 ZSCA1_HUMAN zinc finger and SCAN domain containing 1 357_359 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) AGCAAGGGCCCCCGGGAGTCCGTCCCA 0.657 NA 24 38 --- --- --- --- NA NA NA NA NA NRXN1 9378 broad.mit.edu 37 2 51255156 51255157 + Frame_Shift_Del DEL CG CG - TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 CG CG - - CG CG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr2:51255156_51255157delCG uc010fbq.2 - 2 1732_1733 c.255_256delCG c.(253-258)CGCGGCfs p.R85fs NRXN1_uc002rxe.3_Frame_Shift_Del_p.R85fs|NRXN1_uc002rxd.1_Frame_Shift_Del_p.R85fs NM_001135659 NP_001129131 P58400 NRX1B_HUMAN neurexin 1 isoform alpha2 precursor Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment_150 angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) AGGCGGCCGCCGCGCGTCAGAA 0.663 NA 12 10 --- --- --- --- NA NA NA NA NA SEMG1 6406 broad.mit.edu 37 20 43836371 43836371 + Frame_Shift_Del DEL G G - TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr20:43836371delG uc002xni.2 + 2 490 c.433delG c.(433-435)GATfs p.D145fs SEMG1_uc002xnj.2_Frame_Shift_Del_p.D145fs|SEMG2_uc010ggz.2_Intron|SEMG1_uc002xnh.2_Frame_Shift_Del_p.D145fs NM_003007 NP_002998 P04279 SEMG1_HUMAN semenogelin I preproprotein 145 insemination|sexual reproduction extracellular space|stored secretory granule structural molecule activity skin(2) 2 Myeloproliferative disorder(115;0.0122) TCCTTCTCAAGATCAGGGGAA 0.418 NA 25 57 --- --- --- --- NA NA NA NA NA SRGAP3 9901 broad.mit.edu 37 3 9100069 9100069 + Frame_Shift_Del DEL C C - TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr3:9100069delC uc003brf.1 - 7 1565 c.889delG c.(889-891)GAAfs p.E297fs SRGAP3_uc003brg.1_Frame_Shift_Del_p.E297fs|SRGAP3_uc003bri.1_RNA|SRGAP3_uc003brj.1_Frame_Shift_Del_p.E157fs NM_014850 NP_055665 O43295 SRGP2_HUMAN SLIT-ROBO Rho GTPase activating protein 3 297 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding SRGAP3/RAF1(4) central_nervous_system(4)|skin(3)|urinary_tract(1)|breast(1) 9 OV - Ovarian serous cystadenocarcinoma(96;0.0563) TCCAGCCCTTCGTGGCGAGAG 0.552 NA T RAF1 pilocytic astrocytoma 38 131 --- --- --- --- NA NA NA NA NA MKRN2 23609 broad.mit.edu 37 3 12623348 12623349 + Frame_Shift_Ins INS - - C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr3:12623348_12623349insC uc003bxd.2 + 7 1066_1067 c.1010_1011insC c.(1009-1011)TGCfs p.C337fs MKRN2_uc003bxe.2_Frame_Shift_Ins_p.C335fs|MKRN2_uc011aus.1_Frame_Shift_Ins_p.C294fs NM_014160 NP_054879 Q9H000 MKRN2_HUMAN makorin ring finger protein 2 337 C3H1-type 4. intracellular ligase activity|nucleic acid binding|zinc ion binding 0 AAGGGGACCTGCCCATTTGGAA 0.495 NA 37 113 --- --- --- --- NA NA NA NA NA ROBO1 6091 broad.mit.edu 37 3 78988050 78988050 + Frame_Shift_Del DEL G G - TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr3:78988050delG uc003dqe.2 - 4 408 c.200delC c.(199-201)CCAfs p.P67fs ROBO1_uc003dqb.2_Frame_Shift_Del_p.P28fs|ROBO1_uc003dqc.2_Frame_Shift_Del_p.P28fs|ROBO1_uc003dqd.2_Frame_Shift_Del_p.P28fs NM_002941 NP_002932 Q9Y6N7 ROBO1_HUMAN roundabout 1 isoform a 67 Extracellular (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) AATGCGAGGTGGAAAATCTTC 0.433 NA 9 42 --- --- --- --- NA NA NA NA NA DBR1 51163 broad.mit.edu 37 3 137880881 137880881 + Frame_Shift_Del DEL C C - TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr3:137880881delC uc003erv.2 - 8 1621 c.1485delG c.(1483-1485)GGGfs p.G495fs DBR1_uc003eru.2_Frame_Shift_Del_p.G444fs|DBR1_uc003ert.2_Frame_Shift_Del_p.G263fs NM_016216 NP_057300 Q9UK59 DBR1_HUMAN debranching enzyme homolog 1 495 nucleus metal ion binding|RNA lariat debranching enzyme activity 0 ACTCCACAGTCCCACCAGGTT 0.453 NA 23 83 --- --- --- --- NA NA NA NA NA DHFR 1719 broad.mit.edu 37 5 79950244 79950244 + Frame_Shift_Del DEL T T - TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr5:79950244delT uc003kgy.1 - 1 557 c.65delA c.(64-66)GACfs p.D22fs MSH3_uc003kgz.2_5'Flank|DHFR_uc011ctl.1_Frame_Shift_Del_p.D102fs|DHFR_uc011ctm.1_5'UTR|DHFR_uc010jap.1_RNA|DHFR_uc003kgx.1_Frame_Shift_Del_p.D171fs NM_000791 NP_000782 P00374 DYR_HUMAN dihydrofolate reductase 22 DHFR.|NADP. folic acid metabolic process|glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to methotrexate|tetrahydrofolate metabolic process cytosol dihydrofolate reductase activity|drug binding|folate reductase activity|NADP binding 0 Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;2.69e-46)|Epithelial(54;7.49e-41)|all cancers(79;1.54e-35) Dapsone(DB00250)|Dimethyl sulfoxide(DB01093)|Lamotrigine(DB00555)|Methotrexate(DB00563)|NADH(DB00157)|Pemetrexed(DB00642)|Proguanil(DB01131)|Pyrimethamine(DB00205)|Trimethoprim(DB00440)|Trimetrexate(DB01157) CCAGGGCAGGTCCCCGTTCTT 0.682 NA 14 36 --- --- --- --- NA NA NA NA NA FAM172A 83989 broad.mit.edu 37 5 92956752 92956757 + In_Frame_Del DEL TGGTCT TGGTCT - TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 TGGTCT TGGTCT - - TGGTCT TGGTCT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr5:92956752_92956757delTGGTCT uc010jbd.2 - 11 1394_1399 c.1187_1192delAGACCA c.(1186-1194)AAGACCAGC>AGC p.KT396del FAM172A_uc011cuf.1_In_Frame_Del_p.KT350del|FAM172A_uc011cug.1_In_Frame_Del_p.KT286del|FAM172A_uc011cuh.1_In_Frame_Del_p.KT249del|FAM172A_uc011cui.1_RNA|FAM172A_uc011cuj.1_3'UTR|MIR2277_hsa-mir-2277|MI0011284_5'Flank NM_032042 NP_114431 Q8WUF8 F172A_HUMAN hypothetical protein LOC83989 isoform 1 396_397 endoplasmic reticulum|extracellular region 0 TTCAGGGAGCTGGTCTTGGCCTCTGA 0.597 NA 8 59 --- --- --- --- NA NA NA NA NA HSPA4 3308 broad.mit.edu 37 5 132437501 132437501 + Frame_Shift_Del DEL A A - TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr5:132437501delA uc003kyj.2 + 17 2369 c.2088delA c.(2086-2088)CCAfs p.P696fs NM_002154 NP_002145 P34932 HSP74_HUMAN heat shock 70kDa protein 4 696 cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein cytoplasm|nucleus ATP binding lung(1)|breast(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) AAGAACGACCAAAATTATTTG 0.343 Colon(114;1299 1588 6063 12302 48757) NA 8 24 --- --- --- --- NA NA NA NA NA GUSB 2990 broad.mit.edu 37 7 65439604 65439604 + Frame_Shift_Del DEL G G - TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr7:65439604delG uc003tun.2 - 7 1229 c.1153delC c.(1153-1155)CACfs p.H385fs GUSB_uc011kdt.1_Frame_Shift_Del_p.H239fs NM_000181 NP_000172 P08236 BGLR_HUMAN glucuronidase, beta precursor 385 glycosaminoglycan catabolic process lysosome beta-glucuronidase activity|cation binding 0 TAGGGGTAGTGGCTGGTACGG 0.592 NA 17 85 --- --- --- --- NA NA NA NA NA FSCN3 29999 broad.mit.edu 37 7 127235724 127235726 + In_Frame_Del DEL GCA GCA - TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 GCA GCA - - GCA GCA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr7:127235724_127235726delGCA uc003vmd.1 + 2 727_729 c.508_510delGCA c.(508-510)GCAdel p.A171del FSCN3_uc003vmc.1_In_Frame_Del_p.A126del|FSCN3_uc011kog.1_RNA|FSCN3_uc011koh.1_In_Frame_Del_p.A37del|FSCN3_uc010llc.1_In_Frame_Del_p.A171del NM_020369 NP_065102 Q9NQT6 FSCN3_HUMAN fascin 3 171 actin cytoskeleton|cytoplasm actin filament binding|protein binding, bridging ovary(1) 1 CTGGGTGGACGCAGCAGTTCCCT 0.611 NA 12 79 --- --- --- --- NA NA NA NA NA CSMD1 64478 broad.mit.edu 37 8 3265561 3265561 + Frame_Shift_Del DEL C C - TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr8:3265561delC uc011kwk.1 - 14 2324 c.1934delG c.(1933-1935)GGCfs p.G645fs CSMD1_uc011kwj.1_Frame_Shift_Del_p.G37fs NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 645 Extracellular (Potential).|CUB 4. 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) GTCAGAAATGCCATCATCCTT 0.458 NA 10 13 --- --- --- --- NA NA NA NA NA KLF10 7071 broad.mit.edu 37 8 103664486 103664487 + Frame_Shift_Del DEL TA TA - TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 TA TA - - TA TA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr8:103664486_103664487delTA uc011lhk.1 - 2 329_330 c.175_176delTA c.(175-177)TACfs p.Y59fs KLF10_uc011lhj.1_Frame_Shift_Del_p.Y48fs NM_005655 NP_005646 Q13118 KLF10_HUMAN Kruppel-like factor 10 isoform a 59 cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169) OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826) GTTTTCAACGTATTTCTTAAAA 0.391 Esophageal Squamous(16;495 519 2144 16528 44005) NA OREG0018913 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 85 --- --- --- --- NA NA NA NA NA ENPP2 5168 broad.mit.edu 37 8 120577193 120577193 + Frame_Shift_Del DEL C C - TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr8:120577193delC uc003yot.1 - 23 2220 c.2134delG c.(2134-2136)GTCfs p.V712fs ENPP2_uc011lic.1_Frame_Shift_Del_p.V250fs|ENPP2_uc003yor.1_Frame_Shift_Del_p.V347fs|ENPP2_uc003yos.1_Frame_Shift_Del_p.V764fs|ENPP2_uc010mdd.1_Frame_Shift_Del_p.V737fs NM_001040092 NP_001035181 Q13822 ENPP2_HUMAN autotaxin isoform 2 preproprotein 712 cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration extracellular space|integral to plasma membrane alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1) 7 Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) TAATTCCAGACCCCTGTGCAA 0.383 Melanoma(20;305 879 2501 4818 31020) NA 7 27 --- --- --- --- NA NA NA NA NA TESK1 7016 broad.mit.edu 37 9 35606843 35606843 + Frame_Shift_Del DEL G G - TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr9:35606843delG uc003zxa.2 + 4 736 c.400delG c.(400-402)GGGfs p.G134fs TESK1_uc003zwz.1_RNA|TESK1_uc010mks.2_Frame_Shift_Del_p.M1fs NM_006285 NP_006276 Q15569 TESK1_HUMAN testis-specific protein kinase 1 134 Protein kinase. cell junction assembly|spermatogenesis cytosol ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity stomach(2)|breast(2)|lung(1)|ovary(1)|skin(1) 7 Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) GTATATGAATGGGGGGACATT 0.383 NA 13 74 --- --- --- --- NA NA NA NA NA ZNF782 158431 broad.mit.edu 37 9 99581246 99581246 + Frame_Shift_Del DEL G G - rs35483372 TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chr9:99581246delG uc004awp.1 - 6 1340 c.1059delC c.(1057-1059)TTCfs p.F353fs ZNF782_uc011lup.1_Frame_Shift_Del_p.F221fs NM_001001662 NP_001001662 Q6ZMW2 ZN782_HUMAN zinc finger protein 782 353 C2H2-type 3; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Acute lymphoblastic leukemia(62;0.0527) GATGTACACTGAAAGTTGACT 0.408 NA 28 91 --- --- --- --- NA NA NA NA NA DCAF8L1 139425 broad.mit.edu 37 X 27997961 27997962 + Frame_Shift_Del DEL CG CG - TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 CG CG - - CG CG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chrX:27997961_27997962delCG uc004dbx.1 - 1 1605_1606 c.1490_1491delCG c.(1489-1491)GCGfs p.A497fs NM_001017930 NP_001017930 A6NGE4 DC8L1_HUMAN DDB1 and CUL4 associated factor 8-like 1 497 WD 7. ovary(3)|skin(1) 4 GGCCACTGGTCGCCAACACAGG 0.485 NA 11 32 --- --- --- --- NA NA NA NA NA IRS4 8471 broad.mit.edu 37 X 107977860 107977861 + Frame_Shift_Ins INS - - A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a715d783-38f1-4f6d-991b-983fb907cc9f 24f1a1ea-733d-45b3-a51b-073807143f78 g.chrX:107977860_107977861insA uc004eoc.2 - 1 1747_1748 c.1714_1715insT c.(1714-1716)GGTfs p.G572fs NM_003604 NP_003595 O14654 IRS4_HUMAN insulin receptor substrate 4 572 plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1) 10 TCCCTGGCCACCACCTGAGCCA 0.629 NA 68 166 --- --- --- --- NA NA NA NA NA