Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values SCNN1D 6339 broad.mit.edu 37 1 1222953 1222953 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr1:1222953C>T uc001adu.1 + 9 1508 c.884C>T c.(883-885)GCT>GTT p.A295V SCNN1D_uc001adt.1_Missense_Mutation_p.A459V|SCNN1D_uc001adw.2_Missense_Mutation_p.A361V|SCNN1D_uc001adx.2_Missense_Mutation_p.L59F|SCNN1D_uc001adv.2_Missense_Mutation_p.A295V NM_002978 NP_002969 sodium channel, nonvoltage-gated 1, delta 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199) GTCTGGACAGCTCAGCGCCCC 0.667000 PLCH2 9651 broad.mit.edu 37 1 2436102 2436102 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr1:2436102G>A uc001aji.1 + 22 3975 c.3701G>A c.(3700-3702)CGG>CAG p.R1234Q PLCH2_uc010nyz.1_3'UTR|PLCH2_uc009vle.1_Missense_Mutation_p.R986Q|PLCH2_uc001ajj.1_3'UTR|PLCH2_uc001ajk.1_3'UTR|PLCH2_uc001ajl.1_Missense_Mutation_p.R86Q NM_014638 NP_055453 O75038 PLCH2_HUMAN phospholipase C, eta 2 1234 intracellular signal transduction|lipid catabolic process cytoplasm|plasma membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity central_nervous_system(3)|ovary(1)|skin(1) 5 all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2) CTCCCCTTCCGGCCTCCCTGG 0.662000 UTS2 10911 broad.mit.edu 37 1 7910968 7910968 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr1:7910968C>T uc001aor.2 - 2 159 c.118G>A c.(118-120)GCG>ACG p.A40T UTS2_uc001aoq.2_Missense_Mutation_p.A40T|UTS2_uc001aos.2_Missense_Mutation_p.A55T NM_006786 NP_006777 O95399 UTS2_HUMAN urotensin 2 isoform b preproprotein 40 muscle contraction|regulation of blood pressure|synaptic transmission extracellular space hormone activity 0 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;1.38e-20)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.26e-71)|GBM - Glioblastoma multiforme(8;5.15e-36)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000386)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|STAD - Stomach adenocarcinoma(132;0.000951)|READ - Rectum adenocarcinoma(331;0.0642) GTTAAGCGCGCGTCTTCATGA 0.463000 AADACL3 126767 broad.mit.edu 37 1 12779678 12779678 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr1:12779678G>A uc009vnn.1 + 2 432 c.199G>A c.(199-201)GTC>ATC p.V67I AADACL3_uc001aug.1_Intron NM_001103170 NP_001096640 Q5VUY0 ADCL3_HUMAN arylacetamide deacetylase-like 3 isoform 1 67 hydrolase activity 0 Ovarian(185;0.249) Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) TGGCGGGGGCGTCATGGGGAG 0.527000 MFAP2 4237 broad.mit.edu 37 1 17303033 17303033 + Silent SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr1:17303033T>C uc001azw.2 - 6 382 c.249A>G c.(247-249)GGA>GGG p.G83G MFAP2_uc001azx.2_Silent_p.G82G|MFAP2_uc001azy.2_Silent_p.G83G|MFAP2_uc010ocl.1_Silent_p.G82G NM_002403 NP_002394 P55001 MFAP2_HUMAN microfibrillar-associated protein 2 isoform a 83 microfibril 0 Colorectal(325;3.46e-05)|Breast(348;0.000118)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000538)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|COAD - Colon adenocarcinoma(227;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;3.04e-05)|Kidney(64;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00544)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) GCTCTGCATTTCCTGGTTCTG 0.607000 PADI3 51702 broad.mit.edu 37 1 17609510 17609510 + Missense_Mutation SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr1:17609510T>C uc001bai.2 + 16 1971 c.1931T>C c.(1930-1932)GTG>GCG p.V644A NM_016233 NP_057317 Q9ULW8 PADI3_HUMAN peptidyl arginine deiminase, type III 644 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity ovary(1)|breast(1) 2 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) CATGGGGAGGTGCACTGTGGC 0.602000 PADI4 23569 broad.mit.edu 37 1 17657500 17657500 + Silent SNP C C T rs138052968 TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr1:17657500C>T uc001baj.2 + 2 157 c.129C>T c.(127-129)AAC>AAT p.N43N PADI4_uc009vpc.2_Silent_p.N43N NM_012387 NP_036519 Q9UM07 PADI4_HUMAN peptidyl arginine deiminase, type IV 43 chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity ovary(1)|skin(1) 2 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199) L-Citrulline(DB00155) TCAGCATCAACGCCTCCCCAG 0.617000 HSPG2 3339 broad.mit.edu 37 1 22222727 22222727 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr1:22222727C>T uc001bfj.2 - 2 180 c.140G>A c.(139-141)CGC>CAC p.R47H HSPG2_uc009vqd.2_Missense_Mutation_p.R47H|HSPG2_uc009vqe.1_Missense_Mutation_p.R2H NM_005529 NP_005520 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 precursor 47 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) ATGTGTCCAGCGCATTTGGCT 0.562000 HMGN2 3151 broad.mit.edu 37 1 26801138 26801138 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr1:26801138G>A uc001bmp.3 + 5 419 c.217G>A c.(217-219)GGA>AGA p.G73R HMGN2_uc009vsk.2_Missense_Mutation_p.G58R|HMGN2_uc001bmq.3_Missense_Mutation_p.M106I NM_005517 NP_005508 P05204 HMGN2_HUMAN high-mobility group nucleosomal binding domain 73 chromatin organization|regulation of transcription, DNA-dependent chromatin|cytoplasm|nucleus DNA binding|protein binding 0 all_cancers(24;1.9e-24)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.38e-49)|OV - Ovarian serous cystadenocarcinoma(117;5.38e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.026)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227) TGCAGAAAATGGAGATGCCAA 0.398000 WDTC1 23038 broad.mit.edu 37 1 27589647 27589647 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr1:27589647G>A uc009vst.2 + 3 588 c.53G>A c.(52-54)CGG>CAG p.R18Q WDTC1_uc001bno.2_Missense_Mutation_p.R18Q|WDTC1_uc001bnp.1_RNA NM_015023 NP_055838 Q8N5D0 WDTC1_HUMAN WD and tetratricopeptide repeats 1 18 protein binding ovary(1)|central_nervous_system(1) 2 all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476) CCCTAGGAGCGGGGTGCCCTG 0.378000 SMPDL3B 27293 broad.mit.edu 37 1 28282576 28282576 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr1:28282576G>A uc001bpg.2 + 7 1179 c.988G>A c.(988-990)GCC>ACC p.A330T SMPDL3B_uc001bpf.2_Missense_Mutation_p.A330T|SMPDL3B_uc010ofq.1_Missense_Mutation_p.A124T|SMPDL3B_uc010ofr.1_Missense_Mutation_p.A282T NM_014474 NP_055289 Q92485 ASM3B_HUMAN acid sphingomyelinase-like phosphodiesterase 3B 330 sphingomyelin catabolic process extracellular space hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity ovary(3) 3 Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055) ATATGACCGAGCCACACTGAG 0.557000 LAPTM5 7805 broad.mit.edu 37 1 31206723 31206723 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr1:31206723C>T uc001bsc.2 - 8 832 c.741G>A c.(739-741)TCG>TCA p.S247S NM_006762 NP_006753 Q13571 LAPM5_HUMAN lysosomal protein transmembrane 5 247 Pro-rich. transport integral to plasma membrane|lysosomal membrane 0 Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192) STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649) CTGGGGTCTTCGATGGCAAAG 0.612000 SERINC2 347735 broad.mit.edu 37 1 31901827 31901827 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr1:31901827C>T uc010ogh.1 + 7 996 c.795C>T c.(793-795)GAC>GAT p.D265D SERINC2_uc010ogg.1_Silent_p.D262D|SERINC2_uc001bst.2_Silent_p.D261D|SERINC2_uc001bsu.2_Silent_p.D206D|SERINC2_uc001bsv.2_Silent_p.D206D NM_178865 NP_849196 Q96SA4 SERC2_HUMAN tumor differentially expressed 2-like 261 integral to membrane 0 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123) STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151) CTTGCCAGGACGCCCAGCCCA 0.617000 CSMD2 114784 broad.mit.edu 37 1 34291301 34291301 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr1:34291301C>T uc001bxn.1 - 7 1017 c.988G>A c.(988-990)GTG>ATG p.V330M CSMD2_uc001bxm.1_Missense_Mutation_p.V370M NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 330 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) CACTTACACACAGACGTCTTC 0.542000 RSPO1 284654 broad.mit.edu 37 1 38078483 38078483 + Nonsense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr1:38078483G>A uc001cbl.1 - 8 1524 c.736C>T c.(736-738)CAA>TAA p.Q246* RSPO1_uc001cbm.1_Nonsense_Mutation_p.Q246*|RSPO1_uc009vvf.1_Nonsense_Mutation_p.Q219*|RSPO1_uc009vvg.1_Nonsense_Mutation_p.Q183* NM_001038633 NP_001033722 Q2MKA7 RSPO1_HUMAN R-spondin1 precursor 246 positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization heparin binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) TGCTGCTGTTGCTGCCCCTTG 0.642000 EPHA10 284656 broad.mit.edu 37 1 38186494 38186494 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr1:38186494G>A uc009vvi.2 - 12 2255 c.2169C>T c.(2167-2169)ACC>ACT p.T723T 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 3 723 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) TCATGTACTCGGTGACAATCA 0.592000 ZMPSTE24 10269 broad.mit.edu 37 1 40735792 40735792 + Missense_Mutation SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr1:40735792T>C uc001cfg.2 + 5 831 c.620T>C c.(619-621)GTG>GCG p.V207A NM_005857 NP_005848 O75844 FACE1_HUMAN zinc metallopeptidase STE24 207 Helical; (Potential). endoplasmic reticulum membrane|Golgi membrane|integral to membrane metal ion binding|metalloexopeptidase activity 0 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;6.3e-18) ACATTAGTTGTGTCTCTGGTG 0.338000 CYP4Z1 199974 broad.mit.edu 37 1 47534390 47534390 + Missense_Mutation SNP A A C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr1:47534390A>C uc001cqu.1 + 2 277 c.274A>C c.(274-276)AGT>CGT p.S92R NM_178134 NP_835235 Q86W10 CP4Z1_HUMAN cytochrome P450 4Z1 92 Lumenal (Potential). endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding skin(1) 1 GATGTTCTTCAGTGTCCATGA 0.458000 TAL1 6886 broad.mit.edu 37 1 47691501 47691501 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr1:47691501G>A uc001cqx.2 - 2 637 c.60C>T c.(58-60)GAC>GAT p.D20D TAL1_uc009vyq.2_5'Flank|TAL1_uc001cqy.2_Silent_p.D20D|TAL1_uc001cra.1_Intron|TAL1_uc001cqz.1_Intron NM_003189 NP_003180 P17542 TAL1_HUMAN T-cell acute lymphocytic leukemia 1 20 basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter nuclear chromatin E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity lung(1) 1 CCTCGGCCGCGTCCCGTCCCT 0.721000 T TRD@|SIL lymphoblastic leukemia/biphasic FAM159A 348378 broad.mit.edu 37 1 53099298 53099298 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr1:53099298G>A uc001cuf.2 + 1 233 c.133G>A c.(133-135)GAC>AAC p.D45N FAM159A_uc001cug.1_RNA|FAM159A_uc001cuh.2_RNA NM_001042693 NP_001036158 Q6UWV7 F159A_HUMAN hypothetical protein LOC348378 45 integral to membrane 0 CTGCTGCGACGACCCGCACAG 0.537000 PODN 127435 broad.mit.edu 37 1 53542968 53542968 + Missense_Mutation SNP C C T rs149007009 TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr1:53542968C>T uc001cuv.2 + 6 839 c.832C>T c.(832-834)CGC>TGC p.R278C PODN_uc001cuw.2_Missense_Mutation_p.R259C|PODN_uc010onr.1_Missense_Mutation_p.R259C|PODN_uc010ons.1_Intron NM_153703 NP_714914 Q7Z5L7 PODN_HUMAN podocan 230 LRR 6. negative regulation of cell migration|negative regulation of cell proliferation cytoplasm|extracellular space|proteinaceous extracellular matrix collagen binding p.R278H(1) ovary(1)|pancreas(1) 2 CAACTTCCTGCGCCACGTGCC 0.642000 C1orf175 374977 broad.mit.edu 37 1 55119781 55119781 + Silent SNP C C A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr1:55119781C>A uc010ooe.1 + 3 1506 c.1182C>A c.(1180-1182)ATC>ATA p.I394I C1orf175_uc001cxq.2_RNA|C1orf175_uc001cxo.2_Silent_p.I394I|C1orf175_uc010ooc.1_Intron|C1orf175_uc001cxs.2_RNA|C1orf175_uc010ood.1_Intron|C1orf175_uc010oof.1_RNA|C1orf175_uc001cxr.1_RNA|C1orf175_uc010oog.1_Silent_p.I394I|C1orf175_uc010ooh.1_RNA|C1orf175_uc009vzq.1_RNA|C1orf175_uc001cxt.1_RNA NM_001039464 NP_001034553 Q68CQ1 HEAT8_HUMAN hypothetical protein LOC374977 394 integral to membrane binding 0 GATTCCCCATCTCCAACCCCG 0.602000 ANGPTL3 27329 broad.mit.edu 37 1 63068014 63068014 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr1:63068014G>A uc001das.1 + 5 945 c.894G>A c.(892-894)ACG>ACA p.T298T DOCK7_uc001dan.2_Intron|DOCK7_uc001dao.2_Intron|DOCK7_uc001dap.2_Intron|DOCK7_uc001daq.2_Intron|DOCK7_uc009wah.1_Intron NM_014495 NP_055310 Q9Y5C1 ANGL3_HUMAN angiopoietin-like 3 precursor 298 Fibrinogen C-terminal. acylglycerol homeostasis|artery morphogenesis|cell-matrix adhesion|cholesterol homeostasis|cholesterol metabolic process|fatty acid metabolic process|glycerol metabolic process|integrin-mediated signaling pathway|lipid storage|negative regulation of lipoprotein lipase activity|negative regulation of phospholipase activity|phospholipid catabolic process|phospholipid homeostasis|positive regulation of angiogenesis|positive regulation of cell migration|positive regulation of lipid catabolic process|triglyceride homeostasis extracellular space cell surface binding|growth factor activity|integrin binding|phospholipase inhibitor activity 0 TCAATGAAACGTGGGAGAACT 0.269000 FOXD3 27022 broad.mit.edu 37 1 63789968 63789968 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr1:63789968G>A uc001dax.2 + 1 1239 c.1239G>A c.(1237-1239)GCG>GCA p.A413A NM_012183 NP_036315 Q9UJU5 FOXD3_HUMAN forkhead box D3 413 axon extension involved in axon guidance|branching involved in ureteric bud morphogenesis|cartilage development|embryonic placenta development|enteric nervous system development|iridophore differentiation|kidney development|lateral line nerve glial cell development|melanocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development|trophectodermal cell differentiation 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 GCAGCACGGCGCAGTCGTTTC 0.736000 CACHD1 57685 broad.mit.edu 37 1 65143941 65143941 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr1:65143941C>T uc001dbo.1 + 23 3144 c.3039C>T c.(3037-3039)TTC>TTT p.F1013F CACHD1_uc001dbp.1_Silent_p.F768F|CACHD1_uc001dbq.1_Silent_p.F768F|CACHD1_uc010opa.1_Silent_p.F257F NM_020925 NP_065976 Q5VU97 CAHD1_HUMAN cache domain containing 1 1064 Extracellular (Potential). calcium ion transport integral to membrane ovary(2) 2 AAGAATGCTTCGGGGGGATTG 0.473000 LHX8 431707 broad.mit.edu 37 1 75606736 75606736 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr1:75606736C>T uc001dgo.2 + 5 998 c.334C>T c.(334-336)CAC>TAC p.H112Y LHX8_uc001dgq.2_Missense_Mutation_p.H51Y NM_001001933 NP_001001933 Q68G74 LHX8_HUMAN LIM homeobox 8 112 LIM zinc-binding 1. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 CCTAGGAAGGCACACCAGCTG 0.393000 ATXN7L2 127002 broad.mit.edu 37 1 110031590 110031590 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr1:110031590G>A uc001dxr.2 + 7 920 c.905G>A c.(904-906)CGC>CAC p.R302H ATXN7L2_uc001dxs.2_5'UTR|ATXN7L2_uc001dxt.2_5'Flank NM_153340 NP_699171 Q5T6C5 AT7L2_HUMAN ataxin 7-like 2 302 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) AGCCCAGGGCGCAAGGAGCAA 0.647000 AHCYL1 10768 broad.mit.edu 37 1 110559020 110559020 + Silent SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr1:110559020T>C uc001dyx.2 + 8 1204 c.837T>C c.(835-837)AAT>AAC p.N279N AHCYL1_uc010ovw.1_Silent_p.N232N|AHCYL1_uc001dyy.2_Silent_p.N232N|AHCYL1_uc010ovx.1_Silent_p.N232N NM_006621 NP_006612 O43865 SAHH2_HUMAN S-adenosylhomocysteine hydrolase-like 1 279 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) TGAACGTCAATGATTCTGTTA 0.413000 WARS2 10352 broad.mit.edu 37 1 119575742 119575742 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr1:119575742C>T uc001ehn.2 - 6 903 c.875G>A c.(874-876)CGC>CAC p.R292H WARS2_uc010oxf.1_Missense_Mutation_p.R198H|WARS2_uc001ehm.2_3'UTR|WARS2_uc010oxg.1_Missense_Mutation_p.R235H|WARS2_uc010oxh.1_3'UTR NM_015836 NP_056651 Q9UGM6 SYWM_HUMAN mitochondrial tryptophanyl tRNA synthetase 2 292 tryptophanyl-tRNA aminoacylation mitochondrial matrix ATP binding|tryptophan-tRNA ligase activity 0 all_neural(166;0.187) all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564) Lung(183;0.0629) L-Tryptophan(DB00150) CGCGCTGCGGCGCACCACTTC 0.602000 VPS45 11311 broad.mit.edu 37 1 150053479 150053479 + Missense_Mutation SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr1:150053479A>G uc001etp.2 + 8 1316 c.743A>G c.(742-744)GAT>GGT p.D248G VPS45_uc010pbp.1_RNA|VPS45_uc010pbq.1_Missense_Mutation_p.D212G|VPS45_uc010pbs.1_Missense_Mutation_p.D143G|VPS45_uc001etq.2_Missense_Mutation_p.D68G|VPS45_uc009wlm.1_Missense_Mutation_p.D224G|VPS45_uc010pbr.1_Intron NM_007259 NP_009190 Q9NRW7 VPS45_HUMAN vacuolar protein sorting 45A 248 blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis endosome membrane|Golgi membrane|integral to membrane of membrane fraction central_nervous_system(1)|skin(1) 2 Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) AATCGGATTGATCTTTCCAGA 0.358000 CELF3 11189 broad.mit.edu 37 1 151680108 151680108 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr1:151680108G>A uc001eys.1 - 7 1441 c.647C>T c.(646-648)GCG>GTG p.A216V CELF3_uc010pdh.1_Missense_Mutation_p.A24V|CELF3_uc001eyr.2_Missense_Mutation_p.A215V|CELF3_uc009wmy.2_Missense_Mutation_p.A216V|CELF3_uc009wmx.1_Missense_Mutation_p.A216V|CELF3_uc001eyt.2_Missense_Mutation_p.A139V|C1orf230_uc001eyu.2_5'Flank NM_007185 NP_009116 Q5SZQ8 CELF3_HUMAN trinucleotide repeat containing 4 216 nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus mRNA binding|nucleotide binding ovary(1)|central_nervous_system(1) 2 TACCAGGGCCGCCTGCTGCTG 0.682000 NPR1 4881 broad.mit.edu 37 1 153658636 153658636 + Missense_Mutation SNP G G A rs145787747 TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr1:153658636G>A uc001fcs.3 + 10 2139 c.1718G>A c.(1717-1719)CGC>CAC p.R573H NPR1_uc010pdz.1_Missense_Mutation_p.R319H|NPR1_uc010pea.1_Intron NM_000906 NP_000897 P16066 ANPRA_HUMAN natriuretic peptide receptor 1 precursor 573 Cytoplasmic (Potential).|Protein kinase. body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity ovary(3)|lung(2)|stomach(1)|breast(1) 7 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325) AACCGTAAACGCATTGAGCTG 0.547000 ASH1L 55870 broad.mit.edu 37 1 155317682 155317682 + Missense_Mutation SNP C C T rs41264231 byFrequency TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr1:155317682C>T uc009wqq.2 - 20 8063 c.7583G>A c.(7582-7584)CGT>CAT p.R2528H RAG1AP1_uc010pey.1_Intron|ASH1L_uc001fkt.2_Missense_Mutation_p.R2523H|MIR555_hsa-mir-555|MI0003561_5'Flank NM_018489 NP_060959 Q9NR48 ASH1L_HUMAN absent, small, or homeotic 1-like 2528 Bromo. cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 11 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) TGGGGATTTACGCCCATAGTA 0.433000 SEMA4A 64218 broad.mit.edu 37 1 156142686 156142686 + Missense_Mutation SNP G G C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr1:156142686G>C uc001fnl.2 + 11 1308 c.1204G>C c.(1204-1206)GTG>CTG p.V402L SEMA4A_uc009wrq.2_Missense_Mutation_p.V402L|SEMA4A_uc001fnm.2_Missense_Mutation_p.V402L|SEMA4A_uc001fnn.2_Missense_Mutation_p.V270L|SEMA4A_uc001fno.2_Missense_Mutation_p.V402L NM_022367 NP_071762 Q9H3S1 SEM4A_HUMAN semaphorin B precursor 402 Sema.|Extracellular (Potential). axon guidance integral to membrane|plasma membrane receptor activity ovary(1)|skin(1) 2 Hepatocellular(266;0.158) GGATGAGCAAGTGGTGGGGAC 0.567000 RHBG 57127 broad.mit.edu 37 1 156339053 156339053 + Missense_Mutation SNP C C A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr1:156339053C>A uc010pho.1 + 1 51 c.13C>A c.(13-15)CCT>ACT p.P5T RHBG_uc010phm.1_Missense_Mutation_p.P5T|RHBG_uc010phn.1_RNA|RHBG_uc001fos.2_5'UTR|RHBG_uc009wrz.2_5'UTR|RHBG_uc001for.2_5'UTR NM_020407 NP_065140 Q9H310 RHBG_HUMAN Rhesus blood group, B glycoprotein 5 Cytoplasmic (Potential). transepithelial ammonium transport anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding ovary(2) 2 Hepatocellular(266;0.158) GGCCGGGTCTCCTAGCCGCGC 0.682000 SH2D2A 9047 broad.mit.edu 37 1 156779466 156779466 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr1:156779466G>A uc001fqd.2 - 6 841 c.701C>T c.(700-702)GCC>GTC p.A234V SH2D2A_uc001fqc.1_Missense_Mutation_p.A206V|SH2D2A_uc009wsh.2_Missense_Mutation_p.A244V|SH2D2A_uc001fqe.2_Missense_Mutation_p.A216V|SH2D2A_uc010phs.1_Missense_Mutation_p.A234V NM_003975 NP_003966 Q9NP31 SH22A_HUMAN SH2 domain protein 2A isoform 2 234 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) CTTCTCCCCGGCCCCCTCTTT 0.637000 NTRK1 4914 broad.mit.edu 37 1 156843535 156843535 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr1:156843535G>A uc001fqh.1 + 8 1017 c.961G>A c.(961-963)GTG>ATG p.V321M NTRK1_uc001fqf.1_Missense_Mutation_p.V291M|NTRK1_uc009wsi.1_Missense_Mutation_p.V26M|NTRK1_uc001fqi.1_Missense_Mutation_p.V321M|NTRK1_uc009wsk.1_Missense_Mutation_p.V321M NM_002529 NP_002520 P04629 NTRK1_HUMAN neurotrophic tyrosine kinase, receptor, type 1 321 Ig-like C2-type 2.|Extracellular (Potential). activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(9)|ovary(6)|stomach(1)|central_nervous_system(1) 17 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) Imatinib(DB00619) CAATGGCTCCGTGCTCAATGA 0.627000 T TPM3|TPR|TFG papillary thyroid TSP Lung(10;0.080) SPTA1 6708 broad.mit.edu 37 1 158606546 158606546 + Missense_Mutation SNP T T G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr1:158606546T>G uc001fst.1 - 37 5394 c.5195A>C c.(5194-5196)AAG>ACG p.K1732T NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 1732 Spectrin 17. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) TCGTATCAACTTCTCCCTAAA 0.473000 FCER1A 2205 broad.mit.edu 37 1 159275825 159275825 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr1:159275825C>T uc001ftq.2 + 5 478 c.379C>T c.(379-381)CCC>TCC p.P127S NM_002001 NP_001992 P12319 FCERA_HUMAN Fc fragment of IgE, high affinity I, receptor 127 Ig-like 2.|Extracellular (Potential). integral to plasma membrane lung(2)|skin(2)|prostate(1) 5 all_hematologic(112;0.0429) Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043) GGAGGGCCAGCCCCTCTTCCT 0.453000 VANGL2 57216 broad.mit.edu 37 1 160393967 160393967 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr1:160393967G>A uc001fwb.1 + 8 1498 c.1199G>A c.(1198-1200)CGT>CAT p.R400H VANGL2_uc001fwc.1_Missense_Mutation_p.R400H NM_020335 NP_065068 Q9ULK5 VANG2_HUMAN vang-like 2 400 Cytoplasmic (Potential). apical protein localization|heart looping|nonmotile primary cilium assembly apical plasma membrane|integral to membrane ovary(1) 1 all_cancers(52;1.08e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TCCATGGCCCGTGCCATGCAG 0.572000 ADAMTS4 9507 broad.mit.edu 37 1 161166627 161166627 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr1:161166627G>A uc001fyt.3 - 2 1105 c.677C>T c.(676-678)GCA>GTA p.A226V ADAMTS4_uc001fyu.2_Missense_Mutation_p.A226V|NDUFS2_uc001fyv.2_5'Flank NM_005099 NP_005090 O75173 ATS4_HUMAN ADAM metallopeptidase with thrombospondin type 1 226 Peptidase M12B. proteolysis|skeletal system development extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|protease binding|zinc ion binding ovary(4)|central_nervous_system(1) 5 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) CTTGTCATCTGCCACCACCAG 0.552000 LMX1A 4009 broad.mit.edu 37 1 165182925 165182925 + Nonsense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr1:165182925G>A uc001gcy.1 - 4 843 c.622C>T c.(622-624)CGA>TGA p.R208* LMX1A_uc001gcz.1_Nonsense_Mutation_p.R208*|LMX1A_uc001gcw.1_5'Flank|LMX1A_uc001gcx.1_5'Flank NM_177398 NP_796372 Q8TE12 LMX1A_HUMAN LIM homeobox transcription factor 1, alpha 208 Homeobox. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(3)|upper_aerodigestive_tract(1)|pancreas(1) 5 all_hematologic(923;0.248) TTGAATGCTCGCCTCTGTTGA 0.557000 TBX19 9095 broad.mit.edu 37 1 168262408 168262408 + Silent SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr1:168262408T>C uc001gfl.2 + 3 546 c.495T>C c.(493-495)TAT>TAC p.Y165Y TBX19_uc001gfj.3_Silent_p.Y96Y NM_005149 NP_005140 O60806 TBX19_HUMAN T-box 19 165 T-box. anatomical structure morphogenesis nucleus DNA binding 0 all_hematologic(923;0.215) TGCATAAATATGAACCCCAGG 0.478000 SOAT1 6646 broad.mit.edu 37 1 179310351 179310351 + Missense_Mutation SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr1:179310351T>C uc001gml.2 + 7 749 c.686T>C c.(685-687)ATC>ACC p.I229T SOAT1_uc010pni.1_Missense_Mutation_p.I164T|SOAT1_uc001gmm.2_Missense_Mutation_p.I171T|SOAT1_uc010pnj.1_5'UTR|SOAT1_uc010pnk.1_Missense_Mutation_p.I164T NM_003101 NP_003092 P35610 SOAT1_HUMAN sterol O-acyltransferase 1 229 cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly endoplasmic reticulum membrane|integral to membrane|microsome cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding central_nervous_system(1)|skin(1) 2 Ezetimibe(DB00973)|Hesperetin(DB01094) CTTTTCATGATCTTCCAGATT 0.433000 CEP350 9857 broad.mit.edu 37 1 180062648 180062648 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr1:180062648C>T uc001gnt.2 + 34 7791 c.7408C>T c.(7408-7410)CGC>TGC p.R2470C CEP350_uc009wxl.2_Missense_Mutation_p.R2469C|CEP350_uc001gnv.2_Missense_Mutation_p.R605C|CEP350_uc001gnw.1_Missense_Mutation_p.R227C|CEP350_uc001gnx.1_Missense_Mutation_p.R227C NM_014810 NP_055625 Q5VT06 CE350_HUMAN centrosome-associated protein 350 2470 centrosome|nucleus|spindle ovary(4) 4 AAGTAAGGAGCGCAGTGATGT 0.453000 GLUL 2752 broad.mit.edu 37 1 182354634 182354634 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr1:182354634C>T uc001gpa.1 - 6 873 c.661G>A c.(661-663)GCC>ACC p.A221T GLUL_uc010pnt.1_Missense_Mutation_p.A8T|GLUL_uc001gpb.1_Missense_Mutation_p.A221T|GLUL_uc001gpc.1_Missense_Mutation_p.A221T|GLUL_uc001gpd.1_Missense_Mutation_p.A221T NM_001033056 NP_001028228 P15104 GLNA_HUMAN glutamine synthetase 221 cell proliferation|glutamine biosynthetic process|neurotransmitter uptake cytosol|Golgi apparatus|mitochondrion ATP binding|glutamate decarboxylase activity|glutamate-ammonia ligase activity|identical protein binding 0 Asparaginase(DB00023)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)|L-Methionine(DB00134) ATGAAACGGGCCACCCAGAGA 0.478000 GLT25D2 23127 broad.mit.edu 37 1 183909828 183909828 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr1:183909828G>A uc001gqr.2 - 11 1863 c.1491C>T c.(1489-1491)ACC>ACT p.T497T GLT25D2_uc010poj.1_Silent_p.T497T|GLT25D2_uc001gqp.2_Silent_p.T105T|GLT25D2_uc001gqq.2_Silent_p.T234T|GLT25D2_uc001gqs.2_Silent_p.T377T NM_015101 NP_055916 Q8IYK4 GT252_HUMAN glycosyltransferase 25 domain containing 2 497 lipopolysaccharide biosynthetic process endoplasmic reticulum lumen procollagen galactosyltransferase activity ovary(1)|breast(1) 2 CGTAGCCCAGGGTCCAGTAGG 0.502000 PLA2G4A 5321 broad.mit.edu 37 1 186957564 186957564 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr1:186957564G>A uc001gsc.2 + 18 2379 c.2174G>A c.(2173-2175)CGT>CAT p.R725H PLA2G4A_uc010pos.1_Missense_Mutation_p.R665H NM_024420 NP_077734 P47712 PA24A_HUMAN cytosolic phospholipase A2, group IVA 725 PLA2c. phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation cytosol|endoplasmic reticulum membrane calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity lung(2)|breast(1) 3 Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103) AATCCATCTCGTTGCTCTGTT 0.383000 KIF21B 23046 broad.mit.edu 37 1 200974695 200974695 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr1:200974695C>T uc001gvs.1 - 4 892 c.575G>A c.(574-576)CGC>CAC p.R192H KIF21B_uc001gvr.1_Missense_Mutation_p.R192H|KIF21B_uc009wzl.1_Missense_Mutation_p.R192H|KIF21B_uc010ppn.1_Missense_Mutation_p.R192H|KIF21B_uc001gvt.1_5'UTR NM_017596 NP_060066 O75037 KI21B_HUMAN kinesin family member 21B 192 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(3)|skin(3) 6 GTGGATGAGGCGAGAAGTGAC 0.622000 KDM5B 10765 broad.mit.edu 37 1 202710789 202710789 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr1:202710789G>A uc001gyf.2 - 19 2767 c.2651C>T c.(2650-2652)ACG>ATG p.T884M KDM5B_uc009xag.2_Missense_Mutation_p.T920M|KDM5B_uc001gyg.1_Missense_Mutation_p.T726M NM_006618 NP_006609 Q9UGL1 KDM5B_HUMAN jumonji, AT rich interactive domain 1B 884 negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(2)|breast(2)|urinary_tract(1) 5 AGCACTAGGCGTTTCCTCAGA 0.418000 PPFIA4 8497 broad.mit.edu 37 1 203024614 203024614 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr1:203024614G>A uc001gyz.2 + 3 959 c.366G>A c.(364-366)ACG>ACA p.T122T PPFIA4_uc009xaj.2_Silent_p.T753T|PPFIA4_uc010pqf.1_Silent_p.T335T|PPFIA4_uc001gza.2_Silent_p.T122T|PPFIA4_uc001gzb.1_5'Flank NM_015053 NP_055868 O75335 LIPA4_HUMAN protein tyrosine phosphatase, receptor type, f 122 Potential. cell communication cell surface|cytoplasm protein binding ovary(4)|skin(1) 5 AGATTGAGACGCGTGTAACCA 0.612000 CDK18 5129 broad.mit.edu 37 1 205495220 205495220 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr1:205495220C>T uc001hcr.2 + 6 793 c.574C>T c.(574-576)CGC>TGC p.R192C CDK18_uc010pri.1_Missense_Mutation_p.A182V|CDK18_uc001hcp.2_Missense_Mutation_p.R162C|CDK18_uc001hcq.2_Missense_Mutation_p.R162C|CDK18_uc010prj.1_Missense_Mutation_p.R73C|CDK18_uc001hcs.2_Missense_Mutation_p.R73C|CDK18_uc009xbm.1_Missense_Mutation_p.R73C NM_212503 NP_997668 Q07002 CDK18_HUMAN PCTAIRE protein kinase 3 isoform a 160 Protein kinase. ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity stomach(2) 2 CTTCAAAGGGCGCAGCAAACT 0.577000 SLC41A1 254428 broad.mit.edu 37 1 205768111 205768111 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr1:205768111G>A uc001hdh.1 - 5 1543 c.671C>T c.(670-672)ACA>ATA p.T224I uc001hdi.1_5'Flank NM_173854 NP_776253 Q8IVJ1 S41A1_HUMAN solute carrier family 41 member 1 224 Helical; (Potential). integral to membrane|plasma membrane magnesium ion transmembrane transporter activity skin(2) 2 Breast(84;0.0799) BRCA - Breast invasive adenocarcinoma(75;0.0252) AATGAAGGCTGTGGCCACGCT 0.597000 USH2A 7399 broad.mit.edu 37 1 216052348 216052348 + Silent SNP A A C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr1:216052348A>C uc001hku.1 - 42 8703 c.8316T>G c.(8314-8316)ACT>ACG p.T2772T NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 2772 Fibronectin type-III 14.|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) ACACTGCGGAAGTCACATTGG 0.443000 HNSCC(13;0.011) USH2A 7399 broad.mit.edu 37 1 216172363 216172363 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr1:216172363G>A uc001hku.1 - 34 6910 c.6523C>T c.(6523-6525)CGC>TGC p.R2175C NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 2175 Extracellular (Potential).|Fibronectin type-III 8. 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) AATACATAGCGTTCCAGAATC 0.313000 HNSCC(13;0.011) TGFB2 7042 broad.mit.edu 37 1 218520238 218520238 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr1:218520238G>A uc001hlm.2 + 1 848 c.195G>A c.(193-195)CCG>CCA p.P65P TGFB2_uc001hll.2_Silent_p.P65P|TGFB2_uc001hln.2_Silent_p.P65P|TGFB2_uc010pue.1_RNA|TGFB2_uc001hlo.2_RNA NM_003238 NP_003229 P61812 TGFB2_HUMAN transforming growth factor, beta 2 isoform 2 65 activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding 0 all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776) AAGTCCCCCCGGAGGTGATTT 0.627000 SIPA1L2 57568 broad.mit.edu 37 1 232568138 232568138 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr1:232568138C>T uc001hvg.2 - 14 4269 c.4111G>A c.(4111-4113)GTG>ATG p.V1371M SIPA1L2_uc001hvf.2_Missense_Mutation_p.V445M NM_020808 NP_065859 Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 1371 Ser-rich. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1) 6 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) CTGTGAGACACGATGTAGACT 0.493000 PCNXL2 80003 broad.mit.edu 37 1 233190017 233190017 + Nonsense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr1:233190017G>A uc001hvl.2 - 25 4583 c.4348C>T c.(4348-4350)CGA>TGA p.R1450* PCNXL2_uc001hvk.1_Nonsense_Mutation_p.R102*|PCNXL2_uc001hvm.1_RNA NM_014801 NP_055616 A6NKB5 PCX2_HUMAN pecanex-like 2 1450 integral to membrane central_nervous_system(1)|pancreas(1) 2 all_cancers(173;0.0347)|Prostate(94;0.137) TTCTTACCTCGGAATTCCAGT 0.368000 KCNK1 3775 broad.mit.edu 37 1 233802519 233802519 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr1:233802519G>A uc010pxo.1 + 2 702 c.534G>A c.(532-534)GTG>GTA p.V178V KCNK1_uc001hvw.2_RNA|KCNK1_uc001hvx.2_RNA NM_002245 NP_002236 O00180 KCNK1_HUMAN potassium channel, subfamily K, member 1 178 Helical; (Potential). voltage-gated potassium channel complex inward rectifier potassium channel activity central_nervous_system(1) 1 all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175) Ibutilide(DB00308)|Quinidine(DB00908) CCAAGCAGGTGGTGGCCATCG 0.612000 ACTN2 88 broad.mit.edu 37 1 236924372 236924372 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr1:236924372G>A uc001hyf.2 + 20 2629 c.2425G>A c.(2425-2427)GTC>ATC p.V809I ACTN2_uc001hyg.2_Missense_Mutation_p.V601I|ACTN2_uc009xgi.1_Missense_Mutation_p.V809I|ACTN2_uc010pxu.1_Missense_Mutation_p.V498I|ACTN2_uc001hyh.2_Missense_Mutation_p.V497I NM_001103 NP_001094 P35609 ACTN2_HUMAN actinin, alpha 2 809 2; possibly ancestral.|EF-hand 2. 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) GCAAGGCACCGTCACCTTCCA 0.542000 MTR 4548 broad.mit.edu 37 1 237015832 237015832 + Silent SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr1:237015832T>C uc001hyi.3 + 17 2130 c.1707T>C c.(1705-1707)CCT>CCC p.P569P MTR_uc010pxw.1_Silent_p.P162P|MTR_uc010pxx.1_Silent_p.P569P|MTR_uc010pxy.1_Intron NM_000254 NP_000245 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine 569 Pterin-binding. nervous system development|xenobiotic metabolic process cytosol cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117) OV - Ovarian serous cystadenocarcinoma(106;0.0106) KIRC - Kidney renal clear cell carcinoma(1967;0.248) Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116) AAACATTACCTGGAGCCAGAA 0.398000 EXO1 9156 broad.mit.edu 37 1 242042466 242042466 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr1:242042466C>T uc001hzh.2 + 13 2470 c.1930C>T c.(1930-1932)CCT>TCT p.P644S EXO1_uc001hzi.2_Missense_Mutation_p.P644S|EXO1_uc001hzj.2_Missense_Mutation_p.P644S|EXO1_uc009xgq.2_Missense_Mutation_p.P643S NM_130398 NP_569082 Q9UQ84 EXO1_HUMAN exonuclease 1 isoform b 644 Interaction with MSH2. meiosis|mismatch repair nucleus double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity ovary(2)|lung(2)|skin(1) 5 Ovarian(103;0.103) all_cancers(173;0.0555) OV - Ovarian serous cystadenocarcinoma(106;0.0107) CACCTCTTTGCCTGAGAATAA 0.502000 Direct_reversal_of_damage|Editing_and_processing_nucleases PLD5 200150 broad.mit.edu 37 1 242253167 242253167 + Missense_Mutation SNP G G A rs140318994 TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr1:242253167G>A uc001hzn.1 - 10 1727 c.1600C>T c.(1600-1602)CGG>TGG p.R534W PLD5_uc001hzl.3_Missense_Mutation_p.R472W|PLD5_uc001hzm.3_Missense_Mutation_p.R324W|PLD5_uc001hzo.1_Missense_Mutation_p.R442W Q8N7P1 PLD5_HUMAN RecName: Full=Inactive phospholipase D5; Short=Inactive PLD 5; AltName: Full=Inactive choline phosphatase 5; AltName: Full=Inactive phosphatidylcholine-hydrolyzing phospholipase D5; AltName: Full=PLDc; 534 integral to membrane catalytic activity ovary(6) 6 Melanoma(84;0.242) OV - Ovarian serous cystadenocarcinoma(106;0.0329) TATACGTTCCGGGGATCCTTT 0.428000 CEP170 9859 broad.mit.edu 37 1 243349684 243349684 + Silent SNP G G A rs139999949 by1000genomes TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr1:243349684G>A uc001hzs.2 - 9 1557 c.1149C>T c.(1147-1149)AAC>AAT p.N383N CEP170_uc001hzt.2_Silent_p.N383N|CEP170_uc001hzu.2_Silent_p.N383N NM_014812 NP_055627 Q5SW79 CE170_HUMAN centrosomal protein 170kDa isoform alpha 383 centriole|microtubule|spindle ovary(1)|haematopoietic_and_lymphoid_tissue(1) 2 all_neural(11;0.101) all_cancers(173;0.003) all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101) GAGCCCCAGCGTTCTCTGAAT 0.428000 OR2T11 127077 broad.mit.edu 37 1 248789600 248789600 + Missense_Mutation SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr1:248789600A>G uc001ier.1 - 1 830 c.830T>C c.(829-831)ATT>ACT p.I277T NM_001001964 NP_001001964 Q8NH01 O2T11_HUMAN olfactory receptor, family 2, subfamily T, 277 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity lung(1) 1 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) GGGCGTGACAATGGTATAGAA 0.483000 SFMBT2 57713 broad.mit.edu 37 10 7262416 7262416 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr10:7262416G>A uc009xio.1 - 11 1378 c.1287C>T c.(1285-1287)TCC>TCT p.S429S SFMBT2_uc001ijn.1_Silent_p.S429S|SFMBT2_uc010qay.1_Intron NM_001029880 NP_001025051 Q5VUG0 SMBT2_HUMAN Scm-like with four mbt domains 2 429 MBT 4. regulation of transcription, DNA-dependent nucleus ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1) 8 CACTCACAACGGAGGCCACAC 0.517000 GATA3 2625 broad.mit.edu 37 10 8100351 8100351 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr10:8100351G>A uc001ika.2 + 3 882 c.325G>A c.(325-327)GCC>ACC p.A109T GATA3_uc001ijz.2_Missense_Mutation_p.A109T NM_002051 NP_002042 P23771 GATA3_HUMAN GATA binding protein 3 isoform 2 109 aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development nuclear chromatin|nucleolus|nucleoplasm core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding breast(17)|ovary(3)|central_nervous_system(2) 22 CCACCACACCGCCTCCCCCTG 0.697000 F|N|S breast HDR syndrome (HYPOPARATHYROIDISM|SENSORINEURAL DEAFNESS|AND RENAL DISEASE) GATA3 2625 broad.mit.edu 37 10 8115975 8115975 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr10:8115975G>A uc001ika.2 + 6 1878 c.1321G>A c.(1321-1323)GCC>ACC p.A441T GATA3_uc001ijz.2_Missense_Mutation_p.A442T NM_002051 NP_002042 P23771 GATA3_HUMAN GATA binding protein 3 isoform 2 441 A -> G (in Ref. 4; AAA35870). aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development nuclear chromatin|nucleolus|nucleoplasm core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding breast(17)|ovary(3)|central_nervous_system(2) 22 CATGGTCACCGCCATGGGTTA 0.617000 F|N|S breast HDR syndrome (HYPOPARATHYROIDISM|SENSORINEURAL DEAFNESS|AND RENAL DISEASE) UPF2 26019 broad.mit.edu 37 10 11971928 11971928 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr10:11971928G>A uc001ila.2 - 20 4219 c.3745C>T c.(3745-3747)CGG>TGG p.R1249W UPF2_uc001ilb.2_Missense_Mutation_p.R1249W|UPF2_uc001ilc.2_Missense_Mutation_p.R1249W NM_080599 NP_542166 Q9HAU5 RENT2_HUMAN UPF2 regulator of nonsense transcripts homolog 1249 Sufficient for interaction with UPF1 C- terminus.|Sufficient for interaction with EIF4A1 and EIF1. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay exon-exon junction complex|perinuclear region of cytoplasm identical protein binding|RNA binding central_nervous_system(2)|ovary(1) 3 Renal(717;0.228) TAGCGAGGCCGCCTCTCACGA 0.458000 MCM10 55388 broad.mit.edu 37 10 13228168 13228168 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr10:13228168G>A uc001ima.2 + 9 1207 c.1106G>A c.(1105-1107)TGT>TAT p.C369Y MCM10_uc001imb.2_Missense_Mutation_p.C368Y|MCM10_uc001imc.2_Missense_Mutation_p.C368Y NM_182751 NP_877428 Q7L590 MCM10_HUMAN minichromosome maintenance complex component 10 369 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle nucleoplasm metal ion binding|protein binding ovary(2)|central_nervous_system(1) 3 TTACAGGTGTGTTTATCTATC 0.428000 ENKUR 219670 broad.mit.edu 37 10 25284784 25284784 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr10:25284784G>A uc001isg.1 - 3 403 c.238C>T c.(238-240)CGG>TGG p.R80W ENKUR_uc001ish.1_Missense_Mutation_p.R18W NM_145010 NP_659447 Q8TC29 ENKUR_HUMAN enkurin 80 cilium|flagellum calmodulin binding|SH3 domain binding 0 GGCACGTTCCGATCAAAGTTT 0.328000 MPP7 143098 broad.mit.edu 37 10 28409129 28409129 + Missense_Mutation SNP T T A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr10:28409129T>A uc001iua.1 - 12 1285 c.881A>T c.(880-882)CAG>CTG p.Q294L MPP7_uc009xkz.1_RNA|MPP7_uc001iub.1_Missense_Mutation_p.Q294L|MPP7_uc009xla.2_Missense_Mutation_p.Q294L|MPP7_uc010qdv.1_RNA NM_173496 NP_775767 Q5T2T1 MPP7_HUMAN palmitoylated membrane protein 7 294 SH3. establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly MPP7-DLG1-LIN7 complex|tight junction protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity ovary(1) 1 TCACCTTTCCTGGAAATGCTT 0.438000 ZNF438 220929 broad.mit.edu 37 10 31137596 31137596 + Nonsense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr10:31137596G>A uc010qdz.1 - 7 2173 c.1738C>T c.(1738-1740)CGA>TGA p.R580* ZNF438_uc001ivn.2_Nonsense_Mutation_p.R531*|ZNF438_uc010qdy.1_Nonsense_Mutation_p.R570*|ZNF438_uc001ivo.3_Nonsense_Mutation_p.R144*|ZNF438_uc009xlg.2_Nonsense_Mutation_p.R580*|ZNF438_uc001ivp.3_Nonsense_Mutation_p.R570*|ZNF438_uc010qea.1_Nonsense_Mutation_p.R580*|ZNF438_uc010qeb.1_Nonsense_Mutation_p.R580*|ZNF438_uc010qec.1_Nonsense_Mutation_p.R144* NM_182755 NP_877432 Q7Z4V0 ZN438_HUMAN zinc finger protein 438 isoform a 580 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|breast(1) 2 Prostate(175;0.0587) AAATAGACTCGGATGTGGCCA 0.483000 ANKRD30A 91074 broad.mit.edu 37 10 37430700 37430700 + Missense_Mutation SNP C C A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr10:37430700C>A uc001iza.1 + 7 806 c.707C>A c.(706-708)CCT>CAT p.P236H NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 292 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 GAAAGAACACCTGACACAGCT 0.443000 ZNF248 57209 broad.mit.edu 37 10 38120778 38120778 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr10:38120778C>T uc001izd.1 - 6 2004 c.1505G>A c.(1504-1506)TGT>TAT p.C502Y ZNF248_uc009xmc.2_Intron|ZNF248_uc001izb.2_Intron|ZNF248_uc001izc.2_Intron|ZNF248_uc010qeu.1_Missense_Mutation_p.C502Y NM_021045 NP_066383 Q8NDW4 ZN248_HUMAN zinc finger protein 248 502 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TGACTTCACACAGAAGGATTT 0.423000 SYT15 83849 broad.mit.edu 37 10 46967470 46967470 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr10:46967470G>A uc001jea.2 - 4 760 c.607C>T c.(607-609)CGC>TGC p.R203C SYT15_uc001jdz.2_Missense_Mutation_p.R203C|SYT15_uc001jeb.2_Missense_Mutation_p.R81C|SYT15_uc010qfp.1_RNA NM_031912 NP_114118 Q9BQS2 SYT15_HUMAN synaptotagmin XV isoform a 203 Cytoplasmic (Potential).|C2 1. integral to membrane|plasma membrane 0 GAGGTTTTGCGTTTGGTCTTG 0.612000 PHYHIPL 84457 broad.mit.edu 37 10 60994193 60994193 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr10:60994193G>A uc001jkk.3 + 2 502 c.236G>A c.(235-237)CGC>CAC p.R79H PHYHIPL_uc001jkl.3_Missense_Mutation_p.R33H|PHYHIPL_uc001jkm.3_Missense_Mutation_p.R53H NM_032439 NP_115815 Q96FC7 PHIPL_HUMAN phytanoyl-CoA 2-hydroxylase interacting 79 Fibronectin type-III. 0 TCAAAGGATCGCATTACACAC 0.323000 CDH23 64072 broad.mit.edu 37 10 73270932 73270932 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr10:73270932C>T uc001jrx.3 + 6 769 c.392C>T c.(391-393)ACA>ATA p.T131I CDH23_uc001jrw.3_Missense_Mutation_p.T131I|CDH23_uc001jrv.2_Missense_Mutation_p.T126I|CDH23_uc009xql.2_Missense_Mutation_p.T176I NM_022124 NP_071407 Q9H251 CAD23_HUMAN cadherin-like 23 isoform 1 precursor 131 Cadherin 1.|Extracellular (Potential). calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding central_nervous_system(5)|large_intestine(4)|ovary(2) 11 AACGCGCCCACATTTCACAAT 0.582000 VCL 7414 broad.mit.edu 37 10 75868773 75868773 + Silent SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr10:75868773T>C uc001jwd.2 + 18 2698 c.2604T>C c.(2602-2604)GGT>GGC p.G868G VCL_uc009xrr.2_Silent_p.G617G|VCL_uc010qky.1_Silent_p.G775G|VCL_uc001jwe.2_Silent_p.G868G|VCL_uc010qkz.1_Intron NM_014000 NP_054706 P18206 VINC_HUMAN vinculin isoform meta-VCL 868 Linker (Pro-rich).|Pro-rich. adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface costamere|cytosol|extracellular region|focal adhesion actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity VCL/ALK(4) kidney(4)|ovary(1)|central_nervous_system(1) 6 Prostate(51;0.0112) TGCCTGAAGGTGAGGTCCCTC 0.502000 KCNMA1 3778 broad.mit.edu 37 10 79397198 79397198 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr10:79397198G>A uc001jxn.2 - 1 380 c.203C>T c.(202-204)GCG>GTG p.A68V KCNMA1_uc001jxj.2_Missense_Mutation_p.A68V|KCNMA1_uc001jxo.2_Missense_Mutation_p.A68V|KCNMA1_uc001jxm.2_Missense_Mutation_p.A68V|KCNMA1_uc001jxq.2_Missense_Mutation_p.A68V|KCNMA1_uc001jxs.3_Missense_Mutation_p.A68V|KCNMA1_uc001jxt.3_Missense_Mutation_p.A68V NM_001161352 NP_001154824 Q12791 KCMA1_HUMAN large conductance calcium-activated potassium 68 Extracellular (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) GATGATGAGCGCATCCATCTT 0.438000 RPS24 6229 broad.mit.edu 37 10 79795304 79795304 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr10:79795304G>A uc001jzq.2 + 3 247 c.105G>A c.(103-105)GTG>GTA p.V35V RPS24_uc001jzo.2_Silent_p.V35V|RPS24_uc010qlo.1_Silent_p.V35V|RPS24_uc001jzp.2_Silent_p.V35V|RPS24_uc001jzs.2_Silent_p.V35V|RPS24_uc001jzt.2_RNA NM_001026 NP_001017 P62847 RS24_HUMAN ribosomal protein S24 isoform c 35 endocrine pancreas development|erythrocyte homeostasis|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|nucleolus nucleotide binding|structural constituent of ribosome|translation initiation factor binding skin(1) 1 all_cancers(46;0.0343)|all_epithelial(25;0.000959)|Breast(12;0.00113)|Prostate(51;0.0095) Epithelial(14;0.00128)|OV - Ovarian serous cystadenocarcinoma(4;0.00248)|all cancers(16;0.00428) AGGCGACAGTGCCTAAGACAG 0.398000 PANK1 53354 broad.mit.edu 37 10 91353063 91353063 + Missense_Mutation SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr10:91353063A>G uc001kgp.1 - 5 1658 c.1502T>C c.(1501-1503)ATG>ACG p.M501T PANK1_uc001kgn.1_Missense_Mutation_p.M276T|PANK1_uc001kgo.1_Missense_Mutation_p.M217T|PANK1_uc009xtu.1_Missense_Mutation_p.M303T|uc001kgq.1_5'Flank|MIR107_hsa-mir-107|MI0000114_5'Flank NM_148977 NP_683878 Q8TE04 PANK1_HUMAN pantothenate kinase 1 isoform alpha 501 coenzyme A biosynthetic process|pantothenate metabolic process cytosol|nucleus ATP binding|pantothenate kinase activity 0 Bezafibrate(DB01393) TTCTTTACTCATCATGTTGCC 0.507000 PIK3AP1 118788 broad.mit.edu 37 10 98386589 98386589 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr10:98386589C>T uc001kmq.2 - 10 1673 c.1545G>A c.(1543-1545)ACG>ACA p.T515T PIK3AP1_uc001kmo.2_Silent_p.T114T|PIK3AP1_uc001kmp.2_Silent_p.T337T NM_152309 NP_689522 Q6ZUJ8 BCAP_HUMAN phosphoinositide-3-kinase adaptor protein 1 515 cytoplasm|plasma membrane upper_aerodigestive_tract(3)|ovary(1)|skin(1) 5 Colorectal(252;0.0442) Epithelial(162;6.29e-08)|all cancers(201;3.18e-06) CGTCATCCACCGTGTGATAAA 0.552000 DNMBP 23268 broad.mit.edu 37 10 101639817 101639817 + Silent SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr10:101639817T>C uc001kqj.2 - 16 4391 c.4299A>G c.(4297-4299)AGA>AGG p.R1433R DNMBP_uc010qpl.1_Silent_p.R369R|DNMBP_uc001kqg.2_Silent_p.R721R|DNMBP_uc001kqh.2_Silent_p.R1065R NM_015221 NP_056036 Q6XZF7 DNMBP_HUMAN dynamin binding protein 1433 Ser-rich. intracellular signal transduction|regulation of Rho protein signal transduction cell junction|cytoskeleton|Golgi stack|synapse protein binding|Rho guanyl-nucleotide exchange factor activity ovary(5)|skin(1) 6 Colorectal(252;0.234) Epithelial(162;2.94e-10)|all cancers(201;3.15e-08) CTGAAGGGCATCTGGAAGGAC 0.532000 SFXN3 81855 broad.mit.edu 37 10 102795417 102795417 + Missense_Mutation SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr10:102795417T>C uc001ksp.2 + 4 793 c.337T>C c.(337-339)TTC>CTC p.F113L SFXN3_uc001ksq.2_Missense_Mutation_p.F113L|SFXN3_uc010qpx.1_Intron NM_030971 NP_112233 Q9BWM7 SFXN3_HUMAN sideroflexin 3 113 iron ion homeostasis integral to membrane|mitochondrial membrane cation transmembrane transporter activity ovary(1) 1 Colorectal(252;0.234) Epithelial(162;6.98e-09)|all cancers(201;3.55e-07) CATGCTCACATTCTACAGGCA 0.572000 LBX1 10660 broad.mit.edu 37 10 102987488 102987488 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr10:102987488G>A uc001ksx.2 - 2 530 c.385C>T c.(385-387)CGC>TGC p.R129C uc010qpy.1_5'Flank NM_006562 NP_006553 P52954 LBX1_HUMAN ladybird homeobox 1 129 Homeobox. muscle organ development sequence-specific DNA binding 0 Colorectal(252;0.234) Epithelial(162;3.22e-09)|all cancers(201;1.79e-07) AAGGCCGTGCGCGACTTTCGC 0.587000 NPM3 10360 broad.mit.edu 37 10 103541521 103541521 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr10:103541521G>A uc001ktt.2 - 5 532 c.509C>T c.(508-510)CCT>CTT p.P170L NM_006993 NP_008924 O75607 NPM3_HUMAN nucleophosmin/nucleoplasmin 3 170 nucleic acid binding 0 Colorectal(252;0.122) Epithelial(162;3.94e-09)|all cancers(201;2.13e-07) CTTTTTGGCAGGAAGGATGGG 0.438000 OREG0020469 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) LDB1 8861 broad.mit.edu 37 10 103871259 103871259 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr10:103871259C>T uc009xwz.2 - 2 403 c.60G>A c.(58-60)CCG>CCA p.P20P LDB1_uc001kuk.3_5'UTR|LDB1_uc001kul.3_5'UTR NM_001113407 NP_001106878 Q86U70 LDB1_HUMAN LIM domain binding 1 isoform 1 20 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) GGGGCTCCTTCGGCGAGTACA 0.433000 GBF1 8729 broad.mit.edu 37 10 104119976 104119976 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr10:104119976C>T uc001kux.1 + 12 1453 c.1213C>T c.(1213-1215)CGC>TGC p.R405C GBF1_uc001kuw.2_3'UTR|GBF1_uc001kuy.1_Missense_Mutation_p.R405C|GBF1_uc001kuz.1_Missense_Mutation_p.R406C NM_004193 NP_004184 Q92538 GBF1_HUMAN golgi-specific brefeldin A resistant guanine 405 COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane ARF guanyl-nucleotide exchange factor activity|protein binding ovary(1)|central_nervous_system(1) 2 Colorectal(252;0.0236) Epithelial(162;5.16e-08)|all cancers(201;1.19e-06) TCCCTGCATCCGCGAGCTCTT 0.547000 C10orf79 80217 broad.mit.edu 37 10 105956617 105956617 + Missense_Mutation SNP A A T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr10:105956617A>T uc001kxw.2 - 10 1403 c.1287T>A c.(1285-1287)AAT>AAA p.N429K C10orf79_uc001kxx.3_Missense_Mutation_p.N430K|C10orf79_uc001kxy.1_Missense_Mutation_p.N430K NM_025145 NP_079421 Q8NDM7 WDR96_HUMAN hypothetical protein LOC80217 429 WD 7. 0 Colorectal(252;0.178) Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194) TTACTAGGGTATTCAGATAAA 0.303000 SORCS1 114815 broad.mit.edu 37 10 108923921 108923921 + Missense_Mutation SNP C C G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr10:108923921C>G uc001kym.2 - 1 372 c.364G>C c.(364-366)GAG>CAG p.E122Q SORCS1_uc001kyl.2_Missense_Mutation_p.E122Q|SORCS1_uc009xxs.2_Missense_Mutation_p.E122Q|SORCS1_uc001kyn.1_Missense_Mutation_p.E122Q|SORCS1_uc001kyo.2_Missense_Mutation_p.E122Q NM_052918 NP_443150 Q8WY21 SORC1_HUMAN SORCS receptor 1 isoform a 122 Lumenal (Potential). integral to membrane neuropeptide receptor activity|protein binding breast(1)|central_nervous_system(1) 2 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) CTCGCGCCCTCTCCCCGTTCT 0.706000 SHOC2 8036 broad.mit.edu 37 10 112724378 112724378 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr10:112724378G>A uc001kzl.3 + 2 611 c.262G>A c.(262-264)GCA>ACA p.A88T SHOC2_uc009xxx.2_Missense_Mutation_p.A88T|SHOC2_uc010qrg.1_Intron|SHOC2_uc001kzn.2_Missense_Mutation_p.A88T NM_007373 NP_031399 Q9UQ13 SHOC2_HUMAN soc-2 suppressor of clear homolog 88 fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction nucleus|protein phosphatase type 1 complex protein phosphatase binding|protein phosphatase regulator activity ovary(1)|skin(1) 2 Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126) ATCCAGCAATGCAGAGGTGAT 0.448000 TECTB 6975 broad.mit.edu 37 10 114057846 114057846 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr10:114057846G>A uc001kzr.1 + 7 691 c.691G>A c.(691-693)GTC>ATC p.V231I NM_058222 NP_478129 Q96PL2 TECTB_HUMAN tectorin beta precursor 231 ZP. anchored to membrane|plasma membrane|proteinaceous extracellular matrix 0 Colorectal(252;0.198) Epithelial(162;0.0143)|all cancers(201;0.0242) GGATGAAACCGTCCTCGTGCA 0.517000 TCF7L2 6934 broad.mit.edu 37 10 114912188 114912188 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr10:114912188C>T uc001lae.3 + 11 1765 c.1258C>T c.(1258-1260)CGG>TGG p.R420W TCF7L2_uc001lac.3_Missense_Mutation_p.R397W|TCF7L2_uc010qrk.1_Missense_Mutation_p.R397W|TCF7L2_uc010qrl.1_Missense_Mutation_p.R397W|TCF7L2_uc010qrm.1_Missense_Mutation_p.R420W|TCF7L2_uc010qrn.1_Missense_Mutation_p.R363W|TCF7L2_uc001lad.3_Missense_Mutation_p.R393W|TCF7L2_uc001lag.3_Missense_Mutation_p.R444W|TCF7L2_uc001laf.3_Missense_Mutation_p.R397W|TCF7L2_uc010qro.1_Missense_Mutation_p.R397W|TCF7L2_uc001lah.2_Missense_Mutation_p.R402W|TCF7L2_uc010qrp.1_Missense_Mutation_p.R397W|TCF7L2_uc010qrq.1_Missense_Mutation_p.R393W|TCF7L2_uc010qrr.1_Missense_Mutation_p.R335W|TCF7L2_uc010qrs.1_Missense_Mutation_p.R291W|TCF7L2_uc010qrt.1_Missense_Mutation_p.R291W|TCF7L2_uc010qru.1_Missense_Mutation_p.R319W|TCF7L2_uc010qrv.1_Missense_Mutation_p.R237W|TCF7L2_uc010qrw.1_Missense_Mutation_p.R124W|TCF7L2_uc010qrx.1_Missense_Mutation_p.R277W NM_001146274 NP_001139746 Q9NQB0 TF7L2_HUMAN transcription factor 7-like 2 isoform 1 420 anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus beta-catenin-TCF7L2 complex|PML body|protein-DNA complex armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding large_intestine(3)|ovary(1) 4 Breast(234;0.058)|Colorectal(252;0.0615) Epithelial(162;0.00554)|all cancers(201;0.02) CTGGTCCGCGCGGGATAACTA 0.527000 HSPA12A 259217 broad.mit.edu 37 10 118434447 118434447 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr10:118434447G>A uc001lct.2 - 12 1978 c.1873C>T c.(1873-1875)CGC>TGC p.R625C HSPA12A_uc001lcu.2_Missense_Mutation_p.R542C NM_025015 NP_079291 O43301 HS12A_HUMAN heat shock 70kDa protein 12A 625 ATP binding ovary(1) 1 all cancers(201;0.0158) AGATCCAGGCGGAGCGTGCCA 0.592000 KIAA1598 57698 broad.mit.edu 37 10 118713647 118713647 + Silent SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr10:118713647A>G uc009xyw.2 - 5 840 c.342T>C c.(340-342)ACT>ACC p.T114T KIAA1598_uc001lcz.3_Silent_p.T114T|KIAA1598_uc010qso.1_Silent_p.T54T|KIAA1598_uc010qsp.1_Silent_p.T114T|KIAA1598_uc010qsq.1_Silent_p.T54T|KIAA1598_uc001lcy.3_Silent_p.T84T NM_001127211 NP_001120683 A0MZ66 SHOT1_HUMAN shootin1 isoform a 114 Potential. axon guidance axon 0 all cancers(201;0.00494) TTATCTCTTCAGTTATTACAT 0.368000 PRLHR 2834 broad.mit.edu 37 10 120354648 120354648 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr10:120354648C>T uc001ldp.1 - 2 248 c.109G>A c.(109-111)GGG>AGG p.G37R NM_004248 NP_004239 P49683 PRLHR_HUMAN G protein-coupled receptor 10 37 Extracellular (Potential). female pregnancy integral to plasma membrane neuropeptide Y receptor activity 0 Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175) all cancers(201;0.0166) GCCACCGACCCGTTGCCCGCC 0.667000 INPP5F 22876 broad.mit.edu 37 10 121567499 121567499 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr10:121567499G>A uc001leo.2 + 13 1662 c.1496G>A c.(1495-1497)CGC>CAC p.R499H NM_014937 NP_055752 Q9Y2H2 SAC2_HUMAN inositol polyphosphate-5-phosphatase F 499 SAC. phosphoric ester hydrolase activity ovary(2) 2 Lung NSC(174;0.109)|all_lung(145;0.142) all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158) AAATGTAATCGCATCTACCAG 0.443000 GPR123 84435 broad.mit.edu 37 10 134916258 134916258 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr10:134916258G>A uc001llx.3 + 5 749 c.313G>A c.(313-315)GCC>ACC p.A105T GPR123_uc001llw.2_Missense_Mutation_p.A825T NM_001083909 NP_001077378 Q86SQ6 GP123_HUMAN G protein-coupled receptor 123 105 Helical; Name=3; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity 0 all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05) AGGAGTGACCGCCAGGAACAT 0.622000 ADAM8 101 broad.mit.edu 37 10 135083962 135083962 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr10:135083962G>A uc010qva.1 - 15 1621 c.1570C>T c.(1570-1572)CGT>TGT p.R524C ADAM8_uc010quz.1_Missense_Mutation_p.R563C|ADAM8_uc009ybi.2_Missense_Mutation_p.R563C P78325 ADAM8_HUMAN SubName: Full=cDNA FLJ50704, highly similar to ADAM 8 (EC 3.4.24.-) (A disintegrinand metalloproteinase domain 8); 524 integrin-mediated signaling pathway|proteolysis metalloendopeptidase activity large_intestine(2)|central_nervous_system(1) 3 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05) CAGATGGCACGCCCCAGGGGC 0.647000 DRD4 1815 broad.mit.edu 37 11 639781 639781 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr11:639781C>T uc001lqp.1 + 3 532 c.532C>T c.(532-534)CGC>TGC p.R178C NM_000797 NP_000788 P21917 DRD4_HUMAN dopamine receptor D4 178 Extracellular (Potential). activation of MAPK activity|adult locomotory behavior|arachidonic acid secretion|behavioral fear response|behavioral response to cocaine|behavioral response to ethanol|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of protein secretion|positive regulation of sodium:hydrogen antiporter activity|regulation of dopamine metabolic process|regulation of inhibitory postsynaptic membrane potential|response to amphetamine|response to histamine|social behavior integral to plasma membrane dopamine D4 receptor activity|drug binding|potassium channel regulator activity|SH3 domain binding 0 all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;4.36e-28)|Epithelial(43;2.59e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.0703) Apomorphine(DB00714)|Clozapine(DB00363)|Olanzapine(DB00334)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Ropinirole(DB00268)|Thiethylperazine(DB00372)|Ziprasidone(DB00246) CAACGACGTGCGCGGCCGCGA 0.726000 PDDC1 347862 broad.mit.edu 37 11 771381 771381 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr11:771381G>A uc001lrc.2 - 6 521 c.496C>T c.(496-498)CCG>TCG p.P166S PDDC1_uc010qwm.1_Missense_Mutation_p.P116S|PDDC1_uc001lrd.2_Missense_Mutation_p.P166S|PDDC1_uc001lrf.1_Silent_p.C143C|PDDC1_uc001lrg.1_RNA|PDDC1_uc009ycg.2_Missense_Mutation_p.P116S|PDDC1_uc010qwn.1_RNA|PDDC1_uc010qwo.1_RNA|PDDC1_uc010qwp.1_Missense_Mutation_p.P130S|PDDC1_uc010qwq.1_Missense_Mutation_p.P80S|PDDC1_uc010qwr.1_Missense_Mutation_p.P166S|PDDC1_uc010qws.1_Missense_Mutation_p.P116S NM_182612 NP_872418 Q8NB37 PDDC1_HUMAN Parkinson disease 7 domain containing 1 166 extracellular region 0 all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198) all cancers(45;3.66e-26)|Epithelial(43;2.43e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-19)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703) ACCACGAGCGGCAGGCGGGCG 0.706000 MUC6 4588 broad.mit.edu 37 11 1016092 1016092 + Missense_Mutation SNP G G T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr11:1016092G>T uc001lsw.2 - 31 6760 c.6709C>A c.(6709-6711)CCA>ACA p.P2237T NM_005961 NP_005952 Q6W4X9 MUC6_HUMAN mucin 6, gastric 2237 Ser-rich.|Thr-rich. 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) TGGCTGGATGGGGTGGGAGAC 0.602000 MUC5B 727897 broad.mit.edu 37 11 1272413 1272413 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr11:1272413C>T uc009ycr.1 + 52 15395 c.15269C>T c.(15268-15270)ACC>ATC p.T5090I MUC5B_uc001ltb.2_Missense_Mutation_p.T4771I NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 4693 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) CCAGCACAGACCACCACACCC 0.582000 NUP98 4928 broad.mit.edu 37 11 3726529 3726529 + Missense_Mutation SNP G G A rs144100440 TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr11:3726529G>A uc001lyh.2 - 22 3274 c.2983C>T c.(2983-2985)CGC>TGC p.R995C NUP98_uc001lyi.2_Missense_Mutation_p.R995C|NUP98_uc001lyg.2_Missense_Mutation_p.R63C NM_016320 NP_057404 P52948 NUP98_HUMAN nucleoporin 98kD isoform 1 1012 carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1) 12 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) CGACTGAAGCGTTGATCCAGT 0.433000 T HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11 AML OR56A1 120796 broad.mit.edu 37 11 6048430 6048430 + Missense_Mutation SNP G G T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr11:6048430G>T uc010qzw.1 - 1 505 c.505C>A c.(505-507)CTC>ATC p.L169I NM_001001917 NP_001001917 Q8NGH5 O56A1_HUMAN olfactory receptor, family 56, subfamily A, 169 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|breast(1) 3 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGGGAAGTGAGGATAGGAATG 0.478000 ARFIP2 23647 broad.mit.edu 37 11 6499032 6499032 + Missense_Mutation SNP C C A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr11:6499032C>A uc001mdk.2 - 7 923 c.786G>T c.(784-786)CAG>CAT p.Q262H ARFIP2_uc001mdl.2_Missense_Mutation_p.Q262H|ARFIP2_uc010ral.1_Missense_Mutation_p.Q224H|ARFIP2_uc010ram.1_Missense_Mutation_p.Q168H|ARFIP2_uc010ran.1_Missense_Mutation_p.Q295H|ARFIP2_uc001mdm.2_RNA NM_012402 NP_036534 P53365 ARFP2_HUMAN ADP-ribosylation factor interacting protein 2 262 AH. actin cytoskeleton organization|cellular component movement|lamellipodium assembly|ruffle organization|small GTPase mediated signal transduction cell cortex|plasma membrane|ruffle GTP binding|GTP-dependent protein binding|Rac GTPase binding 0 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) GGAAAGTGGCCTGGGCACTCT 0.587000 SBF2 81846 broad.mit.edu 37 11 9878031 9878031 + Silent SNP G G A rs140730386 byFrequency TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr11:9878031G>A uc001mib.2 - 19 2475 c.2337C>T c.(2335-2337)AGC>AGT p.S779S SBF2_uc001mif.3_Silent_p.S535S|uc001mig.2_Intron NM_030962 NP_112224 Q86WG5 MTMRD_HUMAN SET binding factor 2 779 myelination cytoplasm|membrane phosphatase activity|protein binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887) TGTTGCTTCCGCTCTCCCAGT 0.473000 AMPD3 272 broad.mit.edu 37 11 10524329 10524329 + Missense_Mutation SNP G G T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr11:10524329G>T uc001mio.1 + 13 2239 c.1904G>T c.(1903-1905)AGC>ATC p.S635I AMPD3_uc010rbz.1_Missense_Mutation_p.S476I|AMPD3_uc001min.1_Missense_Mutation_p.S644I|AMPD3_uc009yfw.1_RNA|AMPD3_uc009yfz.2_RNA|AMPD3_uc001mip.1_Missense_Mutation_p.S642I|AMPD3_uc009yfy.2_Missense_Mutation_p.S635I NM_001025389 NP_001020560 Q01432 AMPD3_HUMAN adenosine monophosphate deaminase 3 isoform 1B 635 AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding large_intestine(1)|ovary(1) 2 all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291) TCTCCTCTTAGCAACAACAGT 0.473000 EIF4G2 1982 broad.mit.edu 37 11 10826480 10826480 + Missense_Mutation SNP G G T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr11:10826480G>T uc001mjc.2 - 5 748 c.331C>A c.(331-333)CTT>ATT p.L111I EIF4G2_uc001mjb.2_5'UTR|EIF4G2_uc009ygf.2_5'UTR|EIF4G2_uc001mjd.2_Missense_Mutation_p.L111I|EIF4G2_uc001mjf.1_5'UTR NM_001418 NP_001409 P78344 IF4G2_HUMAN eukaryotic translation initiation factor 4 111 MIF4G. cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity ovary(1)|central_nervous_system(1) 2 all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) ACCCCTTTAAGGATGAGTTTA 0.373000 MRGPRX3 117195 broad.mit.edu 37 11 18158959 18158959 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr11:18158959G>A uc001mnu.2 + 3 571 c.210G>A c.(208-210)GCG>GCA p.A70A NM_054031 NP_473372 Q96LB0 MRGX3_HUMAN MAS-related GPR, member X3 70 Helical; Name=2; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1)|pancreas(1) 2 ACCTGGTCGCGGCCGACTTCC 0.562000 IGSF22 283284 broad.mit.edu 37 11 18736149 18736149 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr11:18736149G>A uc009yht.2 - 12 1744 c.1554C>T c.(1552-1554)AGC>AGT p.S518S IGSF22_uc001mpa.2_RNA NM_173588 NP_775859 Q8N9C0 IGS22_HUMAN immunoglobulin superfamily, member 22 518 ovary(4)|large_intestine(2)|kidney(1) 7 CGGACATCCCGCTCTTCACTG 0.607000 ANO5 203859 broad.mit.edu 37 11 22301182 22301182 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr11:22301182G>A uc001mqi.2 + 22 2930 c.2613G>A c.(2611-2613)ATG>ATA p.M871I ANO5_uc001mqj.2_Missense_Mutation_p.M870I NM_213599 NP_998764 Q75V66 ANO5_HUMAN anoctamin 5 isoform a 871 Cytoplasmic (Potential). chloride channel complex|endoplasmic reticulum membrane chloride channel activity central_nervous_system(3)|ovary(1) 4 AAAAGTTAATGACTATCAAGA 0.343000 SLC17A6 57084 broad.mit.edu 37 11 22396404 22396404 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr11:22396404C>T uc001mqk.2 + 9 1558 c.1145C>T c.(1144-1146)ACG>ATG p.T382M NM_020346 NP_065079 Q9P2U8 VGLU2_HUMAN solute carrier family 17 (sodium-dependent 382 Cytoplasmic (Potential). sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity ovary(3)|breast(1) 4 CTTTCAACTACGACAGTGAGA 0.373000 GAS2 2620 broad.mit.edu 37 11 22833350 22833350 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr11:22833350C>T uc009yie.2 + 8 1036 c.730C>T c.(730-732)CAC>TAC p.H244Y GAS2_uc001mqm.2_Missense_Mutation_p.H244Y|GAS2_uc001mqn.2_RNA|GAS2_uc001mqo.2_Missense_Mutation_p.H244Y NM_001143830 NP_001137302 O43903 GAS2_HUMAN growth arrest-specific 2 244 GAR. cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape actin filament|cytosol|membrane ovary(1)|skin(1) 2 TCAGATGCTGCACAACAAACA 0.428000 DCDC1 341019 broad.mit.edu 37 11 31327839 31327839 + Silent SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr11:31327839T>C uc001msv.2 - 5 733 c.531A>G c.(529-531)ACA>ACG p.T177T DCDC1_uc001msu.1_5'UTR NM_181807 NP_861523 P59894 DCDC1_HUMAN doublecortin domain containing 1 177 Doublecortin. intracellular signal transduction skin(1) 1 Lung SC(675;0.225) TTTTGTAAGCTGTTACTTTAA 0.373000 CD59 966 broad.mit.edu 37 11 33731873 33731873 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr11:33731873G>A uc001mus.3 - 3 468 c.186C>T c.(184-186)AAC>AAT p.N62N CD59_uc009yjx.2_Silent_p.N62N|CD59_uc009yjy.2_Silent_p.N62N|CD59_uc009yjz.2_Silent_p.N62N|CD59_uc001mut.3_Silent_p.N62N|CD59_uc009yka.2_Silent_p.N62N|CD59_uc001muu.3_Silent_p.N62N|CD59_uc001muv.3_Silent_p.N62N|CD59_uc001mux.3_Missense_Mutation_p.T103I NM_001127223 NP_001120695 P13987 CD59_HUMAN CD59 antigen preproprotein 62 UPAR/Ly6. blood coagulation|cell surface receptor linked signaling pathway anchored to external side of plasma membrane|extracellular region|membrane fraction 0 TCCAACACTTGTTATACACTT 0.428000 ACCS 84680 broad.mit.edu 37 11 44098843 44098843 + Missense_Mutation SNP C C A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr11:44098843C>A uc009yks.1 + 7 715 c.571C>A c.(571-573)CCC>ACC p.P191T EXT2_uc010rfo.1_Intron|ACCS_uc010rfm.1_Intron|ACCS_uc010rfn.1_3'UTR|ACCS_uc001mxx.2_Missense_Mutation_p.P191T NM_001127219 NP_001120691 Q96QU6 1A1L1_HUMAN 1-aminocyclopropane-1-carboxylate synthase 191 1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups breast(2)|ovary(1)|lung(1) 4 TTTCCTGATCCCCACCCCTTA 0.582000 ZNF408 79797 broad.mit.edu 37 11 46726219 46726219 + Silent SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr11:46726219A>G uc001nde.1 + 5 1199 c.969A>G c.(967-969)CCA>CCG p.P323P ZNF408_uc010rgw.1_Silent_p.P315P NM_024741 NP_079017 Q9H9D4 ZN408_HUMAN zinc finger protein 408 323 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|identical protein binding|zinc ion binding 0 CAAAGACCCCAGAGCCTGGAG 0.637000 MADD 8567 broad.mit.edu 37 11 47312235 47312235 + Missense_Mutation SNP C C T rs143064159 TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr11:47312235C>T uc001ner.1 + 20 3420 c.3229C>T c.(3229-3231)CGG>TGG p.R1077W MADD_uc001neq.2_Missense_Mutation_p.R1057W|MADD_uc001nev.1_Missense_Mutation_p.R1014W|MADD_uc001nes.1_Missense_Mutation_p.R1034W|MADD_uc001net.1_Missense_Mutation_p.R1077W|MADD_uc009yln.1_Missense_Mutation_p.R1014W|MADD_uc001neu.1_Missense_Mutation_p.R1014W|MADD_uc001nex.2_Missense_Mutation_p.R1077W|MADD_uc001nez.2_Missense_Mutation_p.R1014W|MADD_uc001new.2_Missense_Mutation_p.R1057W|MADD_uc009ylo.2_5'UTR NM_003682 NP_003673 Q8WXG6 MADD_HUMAN MAP-kinase activating death domain-containing 1077 activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity ovary(5)|skin(4)|central_nervous_system(2) 11 Lung(87;0.182) CCTAGCTGGGCGGGGGGACCC 0.532000 OR4C11 219429 broad.mit.edu 37 11 55371101 55371101 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr11:55371101C>T uc010rii.1 - 1 749 c.749G>A c.(748-750)GGC>GAC p.G250D NM_001004700 NP_001004700 Q6IEV9 OR4CB_HUMAN olfactory receptor, family 4, subfamily C, 250 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 TATACATGGGCCAAAGAATAA 0.438000 OR4S2 219431 broad.mit.edu 37 11 55418792 55418792 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr11:55418792C>T uc001nhs.1 + 1 413 c.413C>T c.(412-414)ACA>ATA p.T138I NM_001004059 NP_001004059 Q8NH73 OR4S2_HUMAN olfactory receptor, family 4, subfamily S, 138 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_epithelial(135;0.0748) AACCGGGAGACATGCAATAAA 0.438000 OR10AG1 282770 broad.mit.edu 37 11 55735148 55735148 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr11:55735148C>T uc010rit.1 - 1 792 c.792G>A c.(790-792)CTG>CTA p.L264L NM_001005491 NP_001005491 Q8NH19 O10AG_HUMAN olfactory receptor, family 10, subfamily AG, 264 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Esophageal squamous(21;0.0137) AAAGAGAAATCAGTTTCCCCA 0.368000 CTNND1 1500 broad.mit.edu 37 11 57571140 57571140 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr11:57571140G>A uc001nmc.3 + 8 2039 c.1468G>A c.(1468-1470)GTG>ATG p.V490M CTNND1_uc001nlh.1_Missense_Mutation_p.V490M|CTNND1_uc001nlu.3_Missense_Mutation_p.V389M|CTNND1_uc001nlt.3_Missense_Mutation_p.V389M|CTNND1_uc001nls.3_Missense_Mutation_p.V389M|CTNND1_uc001nlw.3_Missense_Mutation_p.V389M|CTNND1_uc001nmf.3_Missense_Mutation_p.V490M|CTNND1_uc001nmd.3_Missense_Mutation_p.V436M|CTNND1_uc001nlk.3_Missense_Mutation_p.V436M|CTNND1_uc001nme.3_Missense_Mutation_p.V490M|CTNND1_uc001nll.3_Missense_Mutation_p.V436M|CTNND1_uc001nmg.3_Missense_Mutation_p.V436M|CTNND1_uc001nlj.3_Missense_Mutation_p.V436M|CTNND1_uc001nlr.3_Missense_Mutation_p.V436M|CTNND1_uc001nlp.3_Missense_Mutation_p.V436M|CTNND1_uc001nlx.3_Missense_Mutation_p.V167M|CTNND1_uc001nlz.3_Missense_Mutation_p.V167M|CTNND1_uc009ymn.2_Missense_Mutation_p.V167M|CTNND1_uc001nlm.3_Missense_Mutation_p.V490M|CTNND1_uc001nly.3_Missense_Mutation_p.V167M|CTNND1_uc001nmb.3_Missense_Mutation_p.V167M|CTNND1_uc001nma.3_Missense_Mutation_p.V167M|CTNND1_uc001nmi.3_Missense_Mutation_p.V389M|CTNND1_uc001nmh.3_Missense_Mutation_p.V490M|CTNND1_uc001nlq.3_Missense_Mutation_p.V389M|CTNND1_uc001nln.3_Missense_Mutation_p.V490M|CTNND1_uc001nli.3_Missense_Mutation_p.V490M|CTNND1_uc001nlo.3_Missense_Mutation_p.V389M|CTNND1_uc001nlv.3_Missense_Mutation_p.V389M NM_001085458 NP_001078927 O60716 CTND1_HUMAN catenin, delta 1 isoform 1ABC 490 ARM 4. 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) AATGGAGATTGTGGACCATGC 0.458000 NAA40 79829 broad.mit.edu 37 11 63719910 63719910 + Nonsense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr11:63719910C>T uc009yoz.2 + 5 410 c.283C>T c.(283-285)CGA>TGA p.R95* NAA40_uc010rmw.1_Nonsense_Mutation_p.R55*|NAA40_uc010rmx.1_Nonsense_Mutation_p.R74*|NAA40_uc010rmy.1_5'Flank NM_024771 NP_079047 Q86UY6 NAA40_HUMAN N-acetyltransferase 11 95 N-acetyltransferase. N-acetyltransferase activity 0 CTGGAAGGACCGAGAGAAACG 0.572000 CCDC88B 283234 broad.mit.edu 37 11 64111563 64111563 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr11:64111563G>A uc001nzy.2 + 14 1594 c.1550G>A c.(1549-1551)GGC>GAC p.G517D CCDC88B_uc009ypo.1_Missense_Mutation_p.G514D|CCDC88B_uc001nzz.1_Missense_Mutation_p.G166D NM_032251 NP_115627 A6NC98 CC88B_HUMAN coiled-coil domain containing 88 517 microtubule cytoskeleton organization cytoplasm microtubule binding ovary(3)|skin(1) 4 AGCCCTCAGGGCTTGGTTCAG 0.642000 SLC22A11 55867 broad.mit.edu 37 11 64337280 64337280 + Silent SNP G G A rs34836439 TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr11:64337280G>A uc001oai.2 + 9 1913 c.1539G>A c.(1537-1539)CCG>CCA p.P513P SLC22A11_uc001oaj.2_Intron|SLC22A11_uc009ypq.2_Silent_p.P405P NM_018484 NP_060954 Q9NSA0 S22AB_HUMAN solute carrier family 22 member 11 513 Cytoplasmic (Potential). urate metabolic process apical plasma membrane|external side of plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity ovary(1)|central_nervous_system(1) 2 Probenecid(DB01032) TCTTCCTCCCGGAGACCCAGG 0.622000 ATG2A 23130 broad.mit.edu 37 11 64677303 64677303 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr11:64677303G>A uc001obx.2 - 14 2072 c.1957C>T c.(1957-1959)CGG>TGG p.R653W NM_015104 NP_055919 Q2TAZ0 ATG2A_HUMAN autophagy related 2A 653 protein binding ovary(1)|central_nervous_system(1) 2 GGCTCAGGCCGCAGGTCGGCA 0.706000 NPAS4 266743 broad.mit.edu 37 11 66189603 66189603 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr11:66189603C>T uc001ohx.1 + 2 364 c.188C>T c.(187-189)GCG>GTG p.A63V NPAS4_uc010rpc.1_5'UTR NM_178864 NP_849195 Q8IUM7 NPAS4_HUMAN neuronal PAS domain protein 4 63 transcription, DNA-dependent DNA binding|signal transducer activity 0 ACTCCTCTGGCGGGCCCCACG 0.567000 RBM4 5936 broad.mit.edu 37 11 66407528 66407528 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr11:66407528G>A uc009yrj.2 + 2 834 c.346G>A c.(346-348)GTA>ATA p.V116I RBM4_uc009yrk.2_Intron|RBM4_uc001oiv.2_Missense_Mutation_p.V116I|RBM4_uc001oiw.1_Missense_Mutation_p.V116I|RBM4_uc001oix.1_Missense_Mutation_p.V116I|RBM4_uc010rpj.1_Missense_Mutation_p.V116I|RBM4_uc001oiy.1_Missense_Mutation_p.V116I|RBM4_uc001oiz.1_Missense_Mutation_p.V116I NM_002896 NP_002887 Q9BWF3 RBM4_HUMAN RNA binding motif protein 4 116 RRM 2. circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|negative regulation of translation in response to stress|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|positive regulation of muscle cell differentiation|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of nucleocytoplasmic transport|RNA splicing|stress-activated MAPK cascade nuclear speck|nucleolus|stress granule miRNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|zinc ion binding ovary(1) 1 Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266) TTATGCCTTCGTACACATGGA 0.527000 ALDH3B2 222 broad.mit.edu 37 11 67432885 67432885 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr11:67432885C>T uc001omr.2 - 7 1016 c.577G>A c.(577-579)GAC>AAC p.D193N ALDH3B2_uc001oms.2_Missense_Mutation_p.D193N|ALDH3B2_uc009ysa.1_Missense_Mutation_p.D193N NM_000695 NP_000686 P48448 AL3B2_HUMAN aldehyde dehydrogenase 3B2 193 alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process 3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase lung(1)|kidney(1) 2 NADH(DB00157) TGGGGGTCGTCGCCATAGAAA 0.662000 ALDH3B1 221 broad.mit.edu 37 11 67789211 67789211 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr11:67789211G>A uc010rpy.1 + 8 936 c.820G>A c.(820-822)GAC>AAC p.D274N ALDH3B1_uc001omz.2_Missense_Mutation_p.D274N|ALDH3B1_uc001ona.2_Missense_Mutation_p.D237N|ALDH3B1_uc001onb.2_RNA NM_001161473 NP_001154945 P43353 AL3B1_HUMAN aldehyde dehydrogenase 3B1 isoform a 274 alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process 3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase 0 NADH(DB00157) TTTCTATGGCGACGACCCCCA 0.657000 OREG0021141 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) LRP5 4041 broad.mit.edu 37 11 68201267 68201267 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr11:68201267G>A uc001ont.2 + 18 4036 c.3961G>A c.(3961-3963)GCA>ACA p.A1321T LRP5_uc009ysg.2_Missense_Mutation_p.A731T NM_002335 NP_002326 O75197 LRP5_HUMAN low density lipoprotein receptor-related protein 1321 LDL-receptor class A 2.|Extracellular (Potential). adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1) 7 CGACGGCGAGGCAGACTGTCA 0.706000 MTL5 9633 broad.mit.edu 37 11 68478438 68478438 + Missense_Mutation SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr11:68478438A>G uc001ooc.2 - 9 1378 c.1238T>C c.(1237-1239)ATG>ACG p.M413T NM_004923 NP_004914 Q9Y4I5 MTL5_HUMAN metallothionein-like 5, testis-specific isoform 413 cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis cytoplasm|nucleus|soluble fraction metal ion binding ovary(2)|breast(1) 3 Esophageal squamous(3;4.37e-12) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185) TGGCATGCTCATTAGTGTCTT 0.408000 IGHMBP2 3508 broad.mit.edu 37 11 68704522 68704522 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr11:68704522G>A uc001ook.1 + 13 2676 c.2574G>A c.(2572-2574)CAG>CAA p.Q858Q IGHMBP2_uc001ool.1_Silent_p.Q482Q|IGHMBP2_uc001oom.1_Silent_p.Q436Q NM_002180 NP_002171 P38935 SMBP2_HUMAN immunoglobulin mu binding protein 2 858 Gln/Pro-rich. cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation axon|growth cone|nucleus|ribonucleoprotein complex ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding 0 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) CCTCAGGGCAGCAGAAACTTC 0.577000 PHOX2A 401 broad.mit.edu 37 11 71952153 71952153 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr11:71952153C>T uc001osh.3 - 2 570 c.398G>A c.(397-399)CGC>CAC p.R133H NM_005169 NP_005160 O14813 PHX2A_HUMAN paired-like homeobox 2a 133 Homeobox. noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 CACCTGCACGCGAGCCTCAGT 0.587000 FAT3 120114 broad.mit.edu 37 11 92569759 92569759 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr11:92569759C>T uc001pdj.3 + 15 10131 c.10114C>T c.(10114-10116)CCC>TCC p.P3372S NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 3372 Extracellular (Potential).|Cadherin 31. 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) AGACAGCCAGCCCAACGGACA 0.408000 TCGA Ovarian(4;0.039) PGR 5241 broad.mit.edu 37 11 100933287 100933287 + Silent SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr11:100933287T>C uc001pgh.2 - 4 2846 c.2103A>G c.(2101-2103)GCA>GCG p.A701A PGR_uc001pgg.2_Silent_p.A82A|PGR_uc001pgi.2_Intron|PGR_uc009yww.1_Intron|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA NM_000926 NP_000917 P06401 PRGR_HUMAN progesterone receptor 701 Steroid-binding. cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding lung(1)|liver(1)|central_nervous_system(1)|pancreas(1) 4 Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014) LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164) Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396) TGTCATGTCCTGCATAGATCA 0.428000 PGR 5241 broad.mit.edu 37 11 100999479 100999479 + Missense_Mutation SNP C C A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr11:100999479C>A uc001pgh.2 - 1 1066 c.323G>T c.(322-324)AGC>ATC p.S108I PGR_uc001pgi.2_Missense_Mutation_p.S108I|PGR_uc009yww.1_RNA|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA|uc010rum.1_5'Flank NM_000926 NP_000917 P06401 PRGR_HUMAN progesterone receptor 108 Modulating, Pro-Rich. cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding lung(1)|liver(1)|central_nervous_system(1)|pancreas(1) 4 Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014) LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164) Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396) CAGCAGTCCGCTGTCCTTTTC 0.632000 C11orf88 399949 broad.mit.edu 37 11 111385697 111385697 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr11:111385697G>A uc001pln.3 + 1 188 c.188G>A c.(187-189)CGT>CAT p.R63H BTG4_uc001plj.2_5'Flank|BTG4_uc001plk.2_5'Flank|C11orf88_uc009yyd.2_Missense_Mutation_p.R63H|C11orf88_uc001plo.1_Missense_Mutation_p.R63H NM_001100388 NP_001093858 Q6PI97 CK088_HUMAN hypothetical protein LOC399949 isoform 2 63 0 AGCAGTCAGCGTCTGCCGGTG 0.592000 OREG0021329 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) LAYN 143903 broad.mit.edu 37 11 111431078 111431078 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr11:111431078C>T uc001plr.1 + 8 1380 c.1044C>T c.(1042-1044)AGC>AGT p.S348S LAYN_uc001plp.1_Silent_p.S340S|LAYN_uc001plq.1_3'UTR|LAYN_uc001pls.1_3'UTR|LAYN_uc010rwg.1_Silent_p.S195S|LAYN_uc010rwh.1_Silent_p.S196S NM_178834 NP_849156 Q6UX15 LAYN_HUMAN layilin 348 Cytoplasmic (Potential).|3 X 5 AA repeats of E-S-G-X-V.|Interaction with NF2 (By similarity).|Interaction with TLN1 (By similarity). cell surface|integral to membrane|ruffle hyaluronic acid binding|sugar binding 0 all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086) Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476) CTCTGGTGAGCGTGGAGAGTG 0.478000 FAM55A 120400 broad.mit.edu 37 11 114401086 114401086 + Missense_Mutation SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr11:114401086T>C uc001ppa.2 - 3 635 c.218A>G c.(217-219)CAT>CGT p.H73R FAM55A_uc010rxd.1_5'UTR|FAM55A_uc001ppb.1_Missense_Mutation_p.H215R NM_152315 NP_689528 Q8N323 FA55A_HUMAN hypothetical protein LOC120400 215 extracellular region 0 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;3.02e-06)|Epithelial(105;0.000144)|all cancers(92;0.00106) AGTGAAGACATGAGAGGTGCC 0.453000 FAM55D 54827 broad.mit.edu 37 11 114442042 114442042 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr11:114442042C>T uc001ppc.2 - 6 1434 c.1253G>A c.(1252-1254)CGG>CAG p.R418Q FAM55D_uc001ppd.2_Missense_Mutation_p.R134Q NM_001077639 NP_001071107 Q6UWF7 FA55D_HUMAN hypothetical protein LOC54827 isoform 1 418 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) GTCAATGGCCCGGGTGAGGTA 0.433000 CBL 867 broad.mit.edu 37 11 119146846 119146846 + Splice_Site SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr11:119146846T>C uc001pwe.2 + 6 1145 c.1007_splice c.e6+2 p.F336_splice NM_005188 NP_005179 P22681 CBL_HUMAN Cas-Br-M (murine) ecotropic retroviral 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) GGAAGGCTTGTGAGTACCTAC 0.443000 CBL_gene-associated_Juvenile_Myelomonocytic_Leukemia_and_Developmental_Anomalies|Noonan_syndrome OR4D5 219875 broad.mit.edu 37 11 123811133 123811133 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr11:123811133C>T uc001pzk.1 + 1 810 c.810C>T c.(808-810)GCC>GCT p.A270A NM_001001965 NP_001001965 Q8NGN0 OR4D5_HUMAN olfactory receptor, family 4, subfamily D, 270 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) TGGACAAGGCCGTCTCTGTGC 0.488000 OR8D2 283160 broad.mit.edu 37 11 124189676 124189676 + Missense_Mutation SNP C C A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr11:124189676C>A uc010sah.1 - 1 418 c.418G>T c.(418-420)GTC>TTC p.V140F NM_001002918 NP_001002918 Q9GZM6 OR8D2_HUMAN olfactory receptor, family 8, subfamily D, 140 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|pancreas(1) 3 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525) ATGGAACAGACCCTGTGGGAC 0.458000 ACRV1 56 broad.mit.edu 37 11 125548009 125548009 + Missense_Mutation SNP G G T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr11:125548009G>T uc001qcs.2 - 2 503 c.236C>A c.(235-237)ACT>AAT p.T79N ACRV1_uc001qck.2_Intron|ACRV1_uc001qcl.2_Intron|ACRV1_uc001qcm.2_Intron|ACRV1_uc001qcn.2_Intron|ACRV1_uc001qco.2_Intron|ACRV1_uc001qcp.2_Intron|ACRV1_uc001qcq.2_Intron|ACRV1_uc001qcr.2_Missense_Mutation_p.T79N NM_001612 NP_001603 P26436 ASPX_HUMAN acrosomal vesicle protein 1 isoform a precursor 79 3 X 5 AA repeats of S-E-H-[GA]-S. multicellular organismal development acrosomal vesicle 0 all_hematologic(175;0.177) Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713) CTCGGCCACAGTGTGCTTGCT 0.502000 TIRAP 114609 broad.mit.edu 37 11 126162737 126162737 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr11:126162737C>T uc001qdm.1 + 5 885 c.433C>T c.(433-435)CTG>TTG p.L145L TIRAP_uc001qdl.1_Silent_p.L145L|TIRAP_uc009zcb.1_Silent_p.L145L|TIRAP_uc001qdn.1_Silent_p.L145L|TIRAP_uc001qdo.1_Silent_p.L145L NM_001039661 NP_001034750 P58753 TIRAP_HUMAN Toll-interleukin 1 receptor domain-containing 145 TIR. 3'-UTR-mediated mRNA stabilization|cellular response to bacterial lipopeptide|cellular response to lipoteichoic acid|defense response to Gram-positive bacterium|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|myeloid cell differentiation|negative regulation of growth of symbiont in host|positive regulation of B cell proliferation|positive regulation of chemokine (C-X-C motif) ligand 1 production|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-12 production|positive regulation of interleukin-15 production|positive regulation of interleukin-6 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of JNK cascade|positive regulation of neutrophil chemotaxis|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein homodimerization activity|positive regulation of toll-like receptor 2 signaling pathway|positive regulation of toll-like receptor 3 signaling pathway|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|regulation of interferon-beta production|response to lipopolysaccharide|TIRAP-dependent toll-like receptor 4 signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway endocytic vesicle|intrinsic to membrane|ruffle membrane phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|protein heterodimerization activity|protein homodimerization activity|protein kinase C delta binding|Toll-like receptor 2 binding|Toll-like receptor 4 binding|transmembrane receptor activity ovary(1) 1 all_hematologic(175;0.145) Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604) BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0739) CTGCCGGGTGCTGCTCATCAC 0.662000 ST14 6768 broad.mit.edu 37 11 130069878 130069878 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr11:130069878C>T uc001qfw.2 + 16 2033 c.1840C>T c.(1840-1842)CGT>TGT p.R614C NM_021978 NP_068813 Q9Y5Y6 ST14_HUMAN matriptase 614 Extracellular (Potential). proteolysis integral to plasma membrane serine-type endopeptidase activity ovary(2)|skin(2)|central_nervous_system(1) 5 all_hematologic(175;0.0429) Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228) Urokinase(DB00013) GAGACAGGCTCGTGTTGTTGG 0.612000 IGSF9B 22997 broad.mit.edu 37 11 133791120 133791120 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr11:133791120C>T uc001qgx.3 - 18 2731 c.2500G>A c.(2500-2502)GTG>ATG p.V834M NM_014987 NP_055802 Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 834 Cytoplasmic (Potential). integral to membrane|plasma membrane 0 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) GCCTTGGCCACGCTGTACTTC 0.657000 IQSEC3 440073 broad.mit.edu 37 12 274932 274932 + Silent SNP G G A rs115184339 by1000genomes TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr12:274932G>A uc001qhw.1 + 8 1944 c.1938G>A c.(1936-1938)TCG>TCA p.S646S IQSEC3_uc001qhu.1_Silent_p.S646S NM_015232 NP_056047 Q9UPP2 IQEC3_HUMAN IQ motif and Sec7 domain 3 949 PH. regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity central_nervous_system(2)|large_intestine(1)|skin(1) 4 all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031) OV - Ovarian serous cystadenocarcinoma(31;0.00456) LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179) CCCCGCTCTCGGGCTCCGAGA 0.617000 C12orf5 57103 broad.mit.edu 37 12 4460522 4460522 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr12:4460522C>T uc001qmp.2 + 5 439 c.360C>T c.(358-360)CCC>CCT p.P120P NM_020375 NP_065108 Q9NQ88 TIGAR_HUMAN TP53-induced glycolysis and apoptosis regulator 120 intracellular fructose-2,6-bisphosphate 2-phosphatase activity skin(1) 1 all cancers(3;1.15e-07)|Colorectal(7;0.00165)|OV - Ovarian serous cystadenocarcinoma(31;0.00596)|COAD - Colon adenocarcinoma(12;0.0229)|GBM - Glioblastoma multiforme(3;0.0266)|STAD - Stomach adenocarcinoma(119;0.206) TTACACCGCCCGGAGGAGAGA 0.498000 A2ML1 144568 broad.mit.edu 37 12 9001489 9001489 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr12:9001489G>A uc001quz.3 + 16 2105 c.2007G>A c.(2005-2007)ACG>ACA p.T669T A2ML1_uc001qva.1_Silent_p.T249T|A2ML1_uc010sgm.1_Silent_p.T169T NM_144670 NP_653271 A8K2U0 A2ML1_HUMAN alpha-2-macroglobulin-like 1 precursor 513 extracellular space endopeptidase inhibitor activity ovary(2)|skin(1) 3 CTGAAGGCACGGACCTTTTCA 0.507000 PTPRO 5800 broad.mit.edu 37 12 15636953 15636953 + Missense_Mutation SNP G G A rs141750255 TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr12:15636953G>A uc001rcv.1 + 2 295 c.121G>A c.(121-123)GTT>ATT p.V41I PTPRO_uc001rcw.1_Missense_Mutation_p.V41I|PTPRO_uc001rcu.1_Missense_Mutation_p.V41I NM_030667 NP_109592 Q16827 PTPRO_HUMAN receptor-type protein tyrosine phosphatase O 41 Extracellular (Potential). integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1) 9 Hepatocellular(102;0.244) TAATAACATCGTTGTCTCATT 0.348000 SLCO1B1 10599 broad.mit.edu 37 12 21325709 21325709 + Silent SNP C C T rs148697674 TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr12:21325709C>T uc001req.3 + 3 314 c.210C>T c.(208-210)GAC>GAT p.D70D NM_006446 NP_006437 Q9Y6L6 SO1B1_HUMAN solute carrier organic anion transporter family, 70 Helical; Name=2; (Potential). bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|integral to plasma membrane|membrane fraction bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1) 8 Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175) GTTTTATTGACGGAAGCTTTG 0.264000 GYS2 2998 broad.mit.edu 37 12 21712082 21712082 + Silent SNP G G A rs139882761 byFrequency TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr12:21712082G>A uc001rfb.2 - 10 1506 c.1251C>T c.(1249-1251)AAC>AAT p.N417N NM_021957 NP_068776 P54840 GYS2_HUMAN glycogen synthase 2 417 glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction glycogen (starch) synthase activity|protein homodimerization activity lung(1)|skin(1) 2 CTAAAATATCGTTCAGGTCAG 0.328000 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr12:25398284C>T uc001rgp.1 - 2 216 c.35G>A c.(34-36)GGT>GAT p.G12D KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_RNA NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12N(6)|p.G12G(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1) large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1) 21052 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12D(HPAC_PANCREAS)|G12V(SW403_LARGE_INTESTINE)|G12D(HPAFII_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(NCIH441_LUNG)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(PK1_PANCREAS)|G12V(KP3_PANCREAS)|G12D(PANC0813_PANCREAS)|G12A(SW1116_LARGE_INTESTINE)|G12D(LS180_LARGE_INTESTINE)|G12V(NCIH727_LUNG)|G12V(PATU8988S_PANCREAS)|G12V(CAPAN2_PANCREAS)|G12D(KP4_PANCREAS)|G12D(LS513_LARGE_INTESTINE)|G12D(SNUC2A_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(COLO668_LUNG)|G12D(COLO678_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12D(PANC0203_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(SW900_LUNG)|G12V(LCLC97TM1_LUNG)|G12V(SW620_LARGE_INTESTINE)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(SH10TC_STOMACH)|G12V(A498_KIDNEY)|G12D(PK59_PANCREAS)|G12D(HEC1A_ENDOMETRIUM)|G12D(PANC0504_PANCREAS)|G12V(SNGM_ENDOMETRIUM)|G12A(RERFLCAD1_LUNG)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12D(ASPC1_PANCREAS)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(RCM1_LARGE_INTESTINE)|G12V(CORL23_LUNG)|G12D(SW1990_PANCREAS)|G12D(HEYA8_OVARY)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12V(HUPT4_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC50B_ENDOMETRIUM)|G12V(YAPC_PANCREAS)|G12V(NCIH2444_LUNG)|G12V(HCC56_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12V(DANG_PANCREAS)|G12V(SHP77_LUNG)|G12D(AGS_STOMACH)|G12D(SKLU1_LUNG)|G12V(QGP1_PANCREAS)|G12D(L33_PANCREAS)|G12V(PANC0327_PANCREAS)|G12D(PANC1_PANCREAS)|G12V(RKN_OVARY)|G12V(PATU8902_PANCREAS) 119 Mis pancreatic|colorectal|lung|thyroid|AML|others Cardiofaciocutaneous_syndrome|Noonan_syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) IPO8 10526 broad.mit.edu 37 12 30816463 30816463 + Silent SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr12:30816463A>G uc001rjd.2 - 14 1724 c.1554T>C c.(1552-1554)GCT>GCC p.A518A IPO8_uc001rje.1_Silent_p.A7A|IPO8_uc010sjt.1_Silent_p.A313A NM_006390 NP_006381 O15397 IPO8_HUMAN importin 8 518 intracellular protein transport|signal transduction cytoplasm|nucleus protein transporter activity|Ran GTPase binding skin(2)|central_nervous_system(1) 3 all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) GAGCAAGGGCAGCTTCAACTT 0.358000 TSPAN11 441631 broad.mit.edu 37 12 31135587 31135587 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr12:31135587G>A uc010sju.1 + 6 957 c.577G>A c.(577-579)GGC>AGC p.G193S TSPAN11_uc001rjp.2_Missense_Mutation_p.G193S|TSPAN11_uc010sjv.1_Missense_Mutation_p.G183S NM_001080509 NP_001073978 A1L157 TSN11_HUMAN tetraspanin 11 193 integral to membrane 0 all_lung(12;3.11e-10)|Lung NSC(12;5.24e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) GGTGCGCTGCGGCCAGCGGGC 0.672000 C12orf72 254013 broad.mit.edu 37 12 31820818 31820818 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr12:31820818G>A uc009zjr.2 + 4 892 c.683G>A c.(682-684)AGC>AAC p.S228N C12orf72_uc001rkl.2_Missense_Mutation_p.S228N|C12orf72_uc001rkm.2_Missense_Mutation_p.S228N NM_001135864 NP_001129336 Q8IXQ9 MET20_HUMAN hypothetical protein LOC254013 228 cytoplasm protein methyltransferase activity 0 AGTGGACACAGCATTCAGCAT 0.488000 PKP2 5318 broad.mit.edu 37 12 32974415 32974415 + Missense_Mutation SNP C C T rs143038626 TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr12:32974415C>T uc001rlj.3 - 10 2135 c.2020G>A c.(2020-2022)GTG>ATG p.V674M PKP2_uc001rlk.3_Missense_Mutation_p.V630M|PKP2_uc010skj.1_Missense_Mutation_p.V627M NM_004572 NP_004563 Q99959 PKP2_HUMAN plakophilin 2 isoform 2b 674 ARM 5. cell-cell adhesion desmosome|integral to membrane|nucleus binding ovary(1)|pancreas(1) 2 Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) AGCCACTCCACGCCCTTGGGG 0.493000 CACNB3 784 broad.mit.edu 37 12 49220259 49220259 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr12:49220259G>A uc001rsl.1 + 10 1053 c.852G>A c.(850-852)TCG>TCA p.S284S CACNB3_uc010sly.1_Silent_p.S271S|CACNB3_uc010slz.1_Silent_p.S283S|CACNB3_uc001rsk.1_Silent_p.S131S NM_000725 NP_000716 P54284 CACB3_HUMAN calcium channel, voltage-dependent, beta 3 284 axon guidance|membrane depolarization|synaptic transmission cytosol|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity 0 Verapamil(DB00661) CCAAGACCTCGCTGGCCCCCA 0.547000 SMARCD1 6602 broad.mit.edu 37 12 50481152 50481152 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr12:50481152C>T uc001rvx.3 + 5 708 c.538C>T c.(538-540)CGG>TGG p.R180W SMARCD1_uc010smo.1_Missense_Mutation_p.R180W|SMARCD1_uc001rvy.3_Missense_Mutation_p.R180W|SMARCD1_uc009zlp.2_Intron NM_003076 NP_003067 Q96GM5 SMRD1_HUMAN SWI/SNF-related matrix-associated 180 Necessary for GR/NR3C1-mediated remodeling and transcription from chromatin; required for GR/NR3C1 interaction with the BRG1/SMARCA4 complex in vivo.|Interaction with SMARCC1 and SMARCC2. chromatin-mediated maintenance of transcription|nervous system development|regulation of transcription from RNA polymerase II promoter nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex protein complex scaffold|transcription coactivator activity ovary(1) 1 TCAGCAAAAACGGAAGCTGCG 0.502000 TMPRSS12 283471 broad.mit.edu 37 12 51279034 51279034 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr12:51279034G>A uc001rwx.3 + 4 705 c.658G>A c.(658-660)GCT>ACT p.A220T TMPRSS12_uc001rwy.2_Missense_Mutation_p.A220T NM_182559 NP_872365 Q86WS5 TMPSC_HUMAN transmembrane protease, serine 12 precursor 220 Peptidase S1.|Extracellular (Potential). proteolysis integral to membrane serine-type endopeptidase activity 0 AACAGGTAACGCTACAAATAT 0.323000 SCN8A 6334 broad.mit.edu 37 12 52200233 52200233 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr12:52200233G>A uc001ryw.2 + 27 5141 c.4963G>A c.(4963-4965)GGC>AGC p.G1655S NM_014191 NP_055006 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha 1655 IV.|Helical; Name=S5 of repeat IV; (Potential). axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity ovary(7) 7 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) GTTCAACATCGGCCTTCTGCT 0.493000 ACVR1B 91 broad.mit.edu 37 12 52385715 52385715 + Nonsense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr12:52385715C>T uc001rzn.2 + 8 1372 c.1330C>T c.(1330-1332)CGA>TGA p.R444* ACVR1B_uc001rzm.2_Nonsense_Mutation_p.R444*|ACVR1B_uc010snn.1_Nonsense_Mutation_p.R485* NM_004302 NP_004293 P36896 ACV1B_HUMAN activin A receptor, type IB isoform a precursor 444 Protein kinase.|Cytoplasmic (Potential). G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway cell surface activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding p.R485*(1) pancreas(4)|breast(2)|ovary(1)|lung(1)|kidney(1) 9 BRCA - Breast invasive adenocarcinoma(357;0.104) Adenosine triphosphate(DB00171) TGAGGAAATGCGAAAGGTTGT 0.488000 SOAT2 8435 broad.mit.edu 37 12 53516883 53516883 + Nonsense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr12:53516883C>T uc001sbv.2 + 13 1343 c.1255C>T c.(1255-1257)CGA>TGA p.R419* SOAT2_uc009zms.2_RNA NM_003578 NP_003569 O75908 SOAT2_HUMAN acyl-CoA:cholesterol acyltransferase 2 419 cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly brush border|endoplasmic reticulum membrane|integral to membrane|microsome cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding ovary(1) 1 TGCCCGGGCCCGAGGGGTAGC 0.542000 HOXC12 3228 broad.mit.edu 37 12 54348881 54348881 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr12:54348881G>A uc010soq.1 + 1 168 c.168G>A c.(166-168)CCG>CCA p.P56P NM_173860 NP_776272 P31275 HXC12_HUMAN homeobox C12 56 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity upper_aerodigestive_tract(1) 1 TGTCCTGGCCGTCGGCGGAGC 0.701000 HOXC5 3222 broad.mit.edu 37 12 54428224 54428224 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr12:54428224G>A uc001sew.2 + 2 692 c.617G>A c.(616-618)CGC>CAC p.R206H HOXC5_uc001set.2_RNA|HOXC4_uc001seu.2_Intron NM_018953 NP_061826 Q00444 HXC5_HUMAN homeobox C5 206 Homeobox. regulation of transcription from RNA polymerase II promoter cell junction|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 TTCCAGAACCGCAGGATGAAG 0.537000 ZNF385A 25946 broad.mit.edu 37 12 54764440 54764440 + Missense_Mutation SNP G G C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr12:54764440G>C uc001sfw.1 - 6 1023 c.840C>G c.(838-840)CAC>CAG p.H280Q ZNF385A_uc001sfv.1_Missense_Mutation_p.H261Q|ZNF385A_uc009zno.1_RNA|ZNF385A_uc010sov.1_Missense_Mutation_p.H199Q|ZNF385A_uc001sfx.1_Missense_Mutation_p.H280Q|ZNF385A_uc001sfy.3_Missense_Mutation_p.H300Q|ZNF385A_uc001sfz.3_Missense_Mutation_p.H219Q NM_015481 NP_056296 Q96PM9 Z385A_HUMAN zinc finger protein 385A isoform c 280 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding|zinc ion binding ovary(1) 1 TAGACTTCTTGTGACGGCTCA 0.697000 OREG0021894 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) ZNF385A 25946 broad.mit.edu 37 12 54764723 54764723 + Silent SNP G G C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr12:54764723G>C uc001sfw.1 - 5 945 c.762C>G c.(760-762)GTC>GTG p.V254V ZNF385A_uc001sfv.1_Silent_p.V235V|ZNF385A_uc009zno.1_RNA|ZNF385A_uc010sov.1_Silent_p.V173V|ZNF385A_uc001sfx.1_Silent_p.V254V|ZNF385A_uc001sfy.3_Silent_p.V274V|ZNF385A_uc001sfz.3_Silent_p.V193V NM_015481 NP_056296 Q96PM9 Z385A_HUMAN zinc finger protein 385A isoform c 254 Matrin-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding|zinc ion binding ovary(1) 1 GTTTCAGTTGGACCTCCGAGT 0.602000 OREG0021894 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) ZNF385A 25946 broad.mit.edu 37 12 54764782 54764782 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr12:54764782G>A uc001sfw.1 - 5 886 c.703C>T c.(703-705)CCT>TCT p.P235S ZNF385A_uc001sfv.1_Missense_Mutation_p.P216S|ZNF385A_uc009zno.1_RNA|ZNF385A_uc010sov.1_Missense_Mutation_p.P154S|ZNF385A_uc001sfx.1_Missense_Mutation_p.P235S|ZNF385A_uc001sfy.3_Missense_Mutation_p.P255S|ZNF385A_uc001sfz.3_Missense_Mutation_p.P174S NM_015481 NP_056296 Q96PM9 Z385A_HUMAN zinc finger protein 385A isoform c 235 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding|zinc ion binding ovary(1) 1 TCCTGGGCAGGAGCCTCTGGT 0.582000 ZNF385A 25946 broad.mit.edu 37 12 54764831 54764831 + Missense_Mutation SNP G G C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr12:54764831G>C uc001sfw.1 - 5 837 c.654C>G c.(652-654)ATC>ATG p.I218M ZNF385A_uc001sfv.1_Missense_Mutation_p.I199M|ZNF385A_uc009zno.1_RNA|ZNF385A_uc010sov.1_Missense_Mutation_p.I137M|ZNF385A_uc001sfx.1_Missense_Mutation_p.I218M|ZNF385A_uc001sfy.3_Missense_Mutation_p.I238M|ZNF385A_uc001sfz.3_Missense_Mutation_p.I157M NM_015481 NP_056296 Q96PM9 Z385A_HUMAN zinc finger protein 385A isoform c 218 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding|zinc ion binding ovary(1) 1 GGTAAGCTTTGATGGGCCCGA 0.582000 ZNF385A 25946 broad.mit.edu 37 12 54765308 54765308 + Missense_Mutation SNP G G C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr12:54765308G>C uc001sfw.1 - 4 736 c.553C>G c.(553-555)CTG>GTG p.L185V ZNF385A_uc001sfv.1_Missense_Mutation_p.L166V|ZNF385A_uc009zno.1_RNA|ZNF385A_uc010sov.1_Intron|ZNF385A_uc001sfx.1_Missense_Mutation_p.L185V|ZNF385A_uc001sfy.3_Missense_Mutation_p.L205V|ZNF385A_uc001sfz.3_Intron NM_015481 NP_056296 Q96PM9 Z385A_HUMAN zinc finger protein 385A isoform c 185 Matrin-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding|zinc ion binding ovary(1) 1 ACCTTGCACAGAGCACAGTAG 0.612000 DCD 117159 broad.mit.edu 37 12 55038966 55038966 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr12:55038966C>T uc001sgj.2 - 4 342 c.280G>A c.(280-282)GTG>ATG p.V94M DCD_uc009znt.2_Missense_Mutation_p.V94M|DCD_uc009znu.2_RNA NM_053283 NP_444513 P81605 DCD_HUMAN dermcidin preproprotein 94 defense response to bacterium|defense response to fungus|killing of cells of other organism extracellular region protein binding ovary(1) 1 Myeloproliferative disorder(1001;0.0255) CCTTTACCCACGCTTTCTAGA 0.512000 TIMELESS 8914 broad.mit.edu 37 12 56815753 56815753 + Nonsense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr12:56815753G>A uc001slf.2 - 21 2740 c.2572C>T c.(2572-2574)CGA>TGA p.R858* NM_003920 NP_003911 Q9UNS1 TIM_HUMAN timeless homolog 858 cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent nuclear chromatin ovary(5)|breast(2)|pancreas(1) 8 TTGCGTGTTCGAGGAACAGTA 0.547000 LRP1 4035 broad.mit.edu 37 12 57569406 57569406 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr12:57569406C>T uc001snd.2 + 23 4177 c.3711C>T c.(3709-3711)TGC>TGT p.C1237C NM_002332 NP_002323 Q07954 LRP1_HUMAN low density lipoprotein-related protein 1 1237 Extracellular (Potential).|EGF-like 6. aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2) 22 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) GCCAAAAGTGCGACCAGAACA 0.592000 OREG0021937 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) GEFT 115557 broad.mit.edu 37 12 58009785 58009785 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr12:58009785C>T uc001spb.2 + 13 1865 c.1405C>T c.(1405-1407)CGG>TGG p.R469W GEFT_uc009zpy.2_Missense_Mutation_p.R508W|GEFT_uc001spa.2_Missense_Mutation_p.R363W|uc001spc.2_Intron|GEFT_uc001spd.2_Missense_Mutation_p.R174W NM_182947 NP_891992 Q86VW2 ARHGP_HUMAN RhoA/RAC/CDC42 exchange factor isoform 1 469 Sufficient to bind activated GNAQ. regulation of Rho protein signal transduction cytosol|plasma membrane|sarcomere Rho guanyl-nucleotide exchange factor activity 0 Melanoma(17;0.122) GGAGAGCCAACGGGACTTCCT 0.572000 SLC6A15 55117 broad.mit.edu 37 12 85279797 85279797 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr12:85279797G>A uc001szv.2 - 3 833 c.340C>T c.(340-342)CTT>TTT p.L114F SLC6A15_uc010sul.1_Missense_Mutation_p.L7F|SLC6A15_uc001szy.2_Missense_Mutation_p.L114F NM_182767 NP_877499 Q9H2J7 S6A15_HUMAN solute carrier family 6, member 15 isoform 1 114 Helical; Name=2; (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 AAGAAAAAAAGGGGAATACCT 0.353000 DCN 1634 broad.mit.edu 37 12 91550892 91550892 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr12:91550892G>A uc001tbs.2 - 4 706 c.612C>T c.(610-612)TAC>TAT p.Y204Y DCN_uc001tbo.2_Silent_p.Y95Y|DCN_uc001tbp.2_Intron|DCN_uc001tbq.2_Intron|DCN_uc001tbr.2_Intron|DCN_uc001tbt.2_Silent_p.Y204Y|DCN_uc001tbu.2_Silent_p.Y204Y NM_133503 NP_598010 P07585 PGS2_HUMAN decorin isoform a preproprotein 204 LRR 6. organ morphogenesis extracellular space central_nervous_system(2)|ovary(1)|lung(1) 4 CAATGCGGATGTAGGAGAGCT 0.383000 CDK17 5128 broad.mit.edu 37 12 96682999 96682999 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr12:96682999C>T uc001tep.1 - 11 1553 c.1064G>A c.(1063-1065)CGG>CAG p.R355Q CDK17_uc009ztk.2_Missense_Mutation_p.R355Q|CDK17_uc010svb.1_Missense_Mutation_p.R302Q NM_002595 NP_002586 Q00537 CDK17_HUMAN PCTAIRE protein kinase 2 355 Protein kinase. ATP binding|cyclin-dependent protein kinase activity ovary(3)|lung(2)|kidney(1)|central_nervous_system(1) 7 ATCAGGTGGCCGGTACCATAG 0.403000 UTP20 27340 broad.mit.edu 37 12 101767445 101767445 + Missense_Mutation SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr12:101767445A>G uc001tia.1 + 54 7187 c.7031A>G c.(7030-7032)AAG>AGG p.K2344R NM_014503 NP_055318 O75691 UTP20_HUMAN down-regulated in metastasis 2344 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding ovary(2)|breast(2) 4 ACGTGCAAAAAGATGGCATCC 0.428000 CHPT1 56994 broad.mit.edu 37 12 102091823 102091823 + Missense_Mutation SNP G G C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr12:102091823G>C uc001tin.2 + 1 407 c.184G>C c.(184-186)GCC>CCC p.A62P CHPT1_uc001tio.2_RNA|CHPT1_uc001tip.1_Missense_Mutation_p.A62P NM_020244 NP_064629 Q8WUD6 CHPT1_HUMAN choline phosphotransferase 1 62 platelet activating factor biosynthetic process|regulation of cell growth Golgi membrane|integral to membrane|microsome diacylglycerol binding|diacylglycerol cholinephosphotransferase activity|metal ion binding 0 GCTCTGGATGGCCCCCAACTC 0.677000 TMEM119 338773 broad.mit.edu 37 12 108985723 108985723 + Missense_Mutation SNP C C G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr12:108985723C>G uc001tng.2 - 2 600 c.437G>C c.(436-438)GGC>GCC p.G146A TMEM119_uc001tnf.2_RNA NM_181724 NP_859075 Q4V9L6 TM119_HUMAN transmembrane protein 119 precursor 146 Cytoplasmic (Potential). integral to membrane ovary(1) 1 ggcccgggggcccccggcccg 0.567000 ALDH2 217 broad.mit.edu 37 12 112237855 112237855 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr12:112237855C>T uc001tst.2 + 11 1835 c.1394C>T c.(1393-1395)GCG>GTG p.A465V ALDH2_uc010syi.1_Missense_Mutation_p.A418V|ALDH2_uc009zvy.2_Missense_Mutation_p.A389V NM_000690 NP_000681 P05091 ALDH2_HUMAN mitochondrial aldehyde dehydrogenase 2 465 carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process mitochondrial matrix aldehyde dehydrogenase (NAD) activity|aldehyde dehydrogenase|electron carrier activity skin(2)|ovary(1)|central_nervous_system(1) 4 Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727) GCCCTCCAGGCGGGCACTGTG 0.572000 T HMGA2 leiomyoma OAS3 4940 broad.mit.edu 37 12 113382430 113382430 + Missense_Mutation SNP T T G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr12:113382430T>G uc001tug.2 + 3 697 c.610T>G c.(610-612)TTG>GTG p.L204V OAS3_uc001tuf.2_Missense_Mutation_p.L204V NM_006187 NP_006178 Q9Y6K5 OAS3_HUMAN 2'-5'oligoadenylate synthetase 3 204 OAS domain 1. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway microsome ATP binding|nucleotidyltransferase activity|RNA binding central_nervous_system(1) 1 GAACCTAATCTTGCTGGTGAA 0.517000 LHX5 64211 broad.mit.edu 37 12 113907091 113907091 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr12:113907091C>T uc001tvj.1 - 2 807 c.233G>A c.(232-234)CGC>CAC p.R78H NM_022363 NP_071758 Q9H2C1 LHX5_HUMAN LIM homeobox protein 5 78 LIM zinc-binding 2. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 CCGGGCCTTGCGCACCAGGTC 0.597000 TBX3 6926 broad.mit.edu 37 12 115120667 115120667 + Nonsense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr12:115120667C>T uc001tvt.1 - 1 1303 c.339G>A c.(337-339)TGG>TGA p.W113* TBX3_uc001tvu.1_Nonsense_Mutation_p.W113*|TBX3_uc010syw.1_Nonsense_Mutation_p.W113* NM_016569 NP_057653 O15119 TBX3_HUMAN T-box 3 protein isoform 2 113 T-box; first part. anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development nucleus sequence-specific DNA binding ovary(2)|skin(1) 3 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0574) GAAACTGATCCCAAAGTTCTT 0.582000 WSB2 55884 broad.mit.edu 37 12 118474278 118474278 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr12:118474278C>T uc001twr.2 - 6 796 c.698G>A c.(697-699)CGG>CAG p.R233Q WSB2_uc010sza.1_Missense_Mutation_p.R8Q|WSB2_uc010szb.1_Missense_Mutation_p.R23Q|WSB2_uc009zws.1_Missense_Mutation_p.R233Q NM_018639 NP_061109 Q9NYS7 WSB2_HUMAN WD SOCS-box protein 2 233 WD 3. intracellular signal transduction ovary(1) 1 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CTCTAGCTTCCGAATTAACGT 0.498000 TAOK3 51347 broad.mit.edu 37 12 118682752 118682752 + Missense_Mutation SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr12:118682752T>C uc001twx.2 - 4 434 c.139A>G c.(139-141)AGT>GGT p.S47G TAOK3_uc001twy.3_Missense_Mutation_p.S47G NM_016281 NP_057365 Q9H2K8 TAOK3_HUMAN TAO kinase 3 47 Protein kinase. MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation mitochondrion|plasma membrane ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity lung(5)|central_nervous_system(1) 6 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) ACCACCTCACTGGTGTGAGCA 0.368000 CIT 11113 broad.mit.edu 37 12 120148366 120148366 + Silent SNP G G A rs144367821 TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr12:120148366G>A uc001txi.1 - 37 4841 c.4788C>T c.(4786-4788)TGC>TGT p.C1596C CIT_uc001txh.1_Silent_p.C1115C|CIT_uc001txj.1_Silent_p.C1638C NM_007174 NP_009105 O14578 CTRO_HUMAN citron 1596 CNH. intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1) 10 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) AGGGCAGCGTGCAGTTCATGT 0.502000 GCN1L1 10985 broad.mit.edu 37 12 120589077 120589077 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr12:120589077C>T uc001txo.2 - 34 4194 c.4181G>A c.(4180-4182)CGC>CAC p.R1394H NM_006836 NP_006827 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1394 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding ovary(4) 4 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GGCCCCTTTGCGCTCTGCGTA 0.607000 ACADS 35 broad.mit.edu 37 12 121176396 121176396 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr12:121176396G>A uc001tza.3 + 7 974 c.856G>A c.(856-858)GCC>ACC p.A286T ACADS_uc010szl.1_Missense_Mutation_p.A282T|ACADS_uc001tzb.3_Intron NM_000017 NP_000008 P16219 ACADS_HUMAN short-chain acyl-CoA dehydrogenase precursor 286 mitochondrial matrix butyryl-CoA dehydrogenase activity central_nervous_system(2) 2 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) Lung NSC(355;0.163) NADH(DB00157) TGCCCAGACCGCCCTCGATTG 0.662000 MPHOSPH9 10198 broad.mit.edu 37 12 123705999 123705999 + Silent SNP T T A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr12:123705999T>A uc001uel.2 - 1 443 c.336A>T c.(334-336)GTA>GTT p.V112V MPHOSPH9_uc010tal.1_5'UTR|MPHOSPH9_uc010tam.1_RNA|MPHOSPH9_uc001uem.2_5'UTR NM_022782 NP_073619 Q99550 MPP9_HUMAN M-phase phosphoprotein 9 112 M phase of mitotic cell cycle centriole|Golgi membrane 0 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169) GAGAAATGGATACATCTTCCT 0.363000 GPR133 283383 broad.mit.edu 37 12 131476850 131476850 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr12:131476850C>T uc001uit.3 + 8 1438 c.879C>T c.(877-879)CCC>CCT p.P293P GPR133_uc010tbm.1_Silent_p.P325P NM_198827 NP_942122 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 precursor 293 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity pancreas(5)|ovary(3)|skin(2) 10 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) TCCAAAGTCCCGGAGTGATAC 0.458000 GPR133 283383 broad.mit.edu 37 12 131487801 131487801 + Silent SNP C C T rs148751019 TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr12:131487801C>T uc001uit.3 + 10 1657 c.1098C>T c.(1096-1098)CAC>CAT p.H366H GPR133_uc010tbm.1_Silent_p.H398H NM_198827 NP_942122 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 precursor 366 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity pancreas(5)|ovary(3)|skin(2) 10 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) CCAACCTGCACGGCAGCACGC 0.627000 ULK1 8408 broad.mit.edu 37 12 132395332 132395332 + Missense_Mutation SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr12:132395332T>C uc001uje.2 + 12 1203 c.935T>C c.(934-936)CTG>CCG p.L312P NM_003565 NP_003556 O75385 ULK1_HUMAN Unc-51-like kinase 1 312 Interaction with GABARAP and GABARAPL2. autophagy|protein localization|regulation of autophagy autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex ATP binding|protein complex binding|protein serine/threonine kinase activity ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07) ACCTCCCACCTGGCCTCCCCG 0.692000 ANKLE2 23141 broad.mit.edu 37 12 133304695 133304695 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr12:133304695G>A uc001ukx.2 - 12 2605 c.2538C>T c.(2536-2538)GAC>GAT p.D846D ANKLE2_uc009zyw.1_Silent_p.D201D NM_015114 NP_055929 Q86XL3 ANKL2_HUMAN ankyrin repeat and LEM domain containing 2 846 cytoplasm|integral to membrane|nuclear envelope 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06) GGGGGTCGACGTCTGCACATT 0.512000 C1QTNF9B 387911 broad.mit.edu 37 13 24465898 24465898 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr13:24465898G>A uc010tcw.1 - 3 532 c.532C>T c.(532-534)CGG>TGG p.R178W MIPEP_uc001uox.3_5'Flank|PCOTH_uc001uoy.2_Missense_Mutation_p.R51Q|PCOTH_uc009zzx.2_Missense_Mutation_p.R60Q|C1QTNF9B_uc010tcv.1_Intron|C1QTNF9B_uc001uoz.1_Intron|C1QTNF9B_uc010tcx.1_Missense_Mutation_p.R178W NM_001007537 NP_001007538 B2RNN3 C1T9B_HUMAN C1q and tumor necrosis factor related protein 9B 178 Collagen-like 3. collagen 0 CTTATTCCCCGGACTCCTGGC 0.582000 FAM123A 219287 broad.mit.edu 37 13 25745468 25745468 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr13:25745468G>A uc001uqb.2 - 1 390 c.290C>T c.(289-291)CCG>CTG p.P97L FAM123A_uc001uqa.2_Missense_Mutation_p.P97L|FAM123A_uc001uqc.2_Missense_Mutation_p.P97L NM_152704 NP_689917 Q8N7J2 F123A_HUMAN hypothetical protein LOC219287 isoform 1 97 Gly-rich. ovary(2)|large_intestine(1)|lung(1) 4 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) CAGCCCCGTCGGACCCGAGCT 0.517000 N4BP2L2 10443 broad.mit.edu 37 13 33017425 33017425 + Nonsense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr13:33017425G>A uc010abe.1 - 7 1271 c.1249C>T c.(1249-1251)CAA>TAA p.Q417* N4BP2L2_uc001uug.2_Nonsense_Mutation_p.Q300*|N4BP2L2_uc010abd.1_Nonsense_Mutation_p.Q330*|N4BP2L2_uc001uuh.2_Nonsense_Mutation_p.Q248*|N4BP2L2_uc001uuj.2_Intron|N4BP2L2_uc010tdz.1_Nonsense_Mutation_p.Q402* NM_033111 NP_149102 Q92802 N42L2_HUMAN phosphonoformate immuno-associated protein 5 Error:Variant_position_missing_in_Q92802_after_alignment 0 Lung SC(185;0.0262) all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243) TGAATCCATTGCCCCCTGCTG 0.423000 KIAA0564 23078 broad.mit.edu 37 13 42189137 42189137 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr13:42189137G>A uc001uyj.2 - 38 4765 c.4695C>T c.(4693-4695)GGC>GGT p.G1565G NM_015058 NP_055873 A3KMH1 K0564_HUMAN hypothetical protein LOC23078 isoform a 1565 extracellular region ATP binding|ATPase activity ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1) 6 Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969) AAGTGTTGCCGCCCACGTGAG 0.537000 LCP1 3936 broad.mit.edu 37 13 46705004 46705004 + Missense_Mutation SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr13:46705004A>G uc001vaz.3 - 15 1822 c.1696T>C c.(1696-1698)TAT>CAT p.Y566H LCP1_uc010ack.2_Missense_Mutation_p.Y135H|LCP1_uc001vay.3_Missense_Mutation_p.Y163H|LCP1_uc001vba.3_Missense_Mutation_p.Y566H NM_002298 NP_002289 P13796 PLSL_HUMAN L-plastin 566 Actin-binding 2.|CH 4. regulation of intracellular protein transport|T cell activation involved in immune response cell junction|cytosol|ruffle membrane calcium ion binding lung(4)|ovary(3) 7 Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;5.39e-05) AGAAGGTCATAGTTAATGGAA 0.428000 T BCL6 NHL LRCH1 23143 broad.mit.edu 37 13 47315868 47315868 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr13:47315868C>T uc001vbj.2 + 19 2308 c.2072C>T c.(2071-2073)GCC>GTC p.A691V LRCH1_uc001vbk.2_Missense_Mutation_p.A726V|LRCH1_uc001vbl.3_Intron NM_015116 NP_055931 Q9Y2L9 LRCH1_HUMAN leucine-rich repeats and calponin homology (CH) 691 ovary(1)|central_nervous_system(1) 2 all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000123) GGGGAGAAAGCCCCACCACCA 0.502000 PCDH8 5100 broad.mit.edu 37 13 53421242 53421242 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr13:53421242C>T uc001vhi.2 - 1 1533 c.1330G>A c.(1330-1332)GCG>ACG p.A444T PCDH8_uc001vhj.2_Missense_Mutation_p.A444T NM_002590 NP_002581 O95206 PCDH8_HUMAN protocadherin 8 isoform 1 precursor 444 Extracellular (Potential).|Cadherin 4. cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding breast(1) 1 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) TAGCTGCCCGCGTAGGCCGGC 0.716000 PCDH9 5101 broad.mit.edu 37 13 67801679 67801679 + Silent SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr13:67801679T>C uc001vik.2 - 2 1586 c.894A>G c.(892-894)GCA>GCG p.A298A PCDH9_uc001vil.2_Silent_p.A298A|PCDH9_uc010thl.1_Silent_p.A298A|PCDH9_uc001vin.3_Silent_p.A298A NM_203487 NP_982354 Q9HC56 PCDH9_HUMAN protocadherin 9 isoform 1 precursor 298 Extracellular (Potential).|Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1)|skin(1) 6 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) GTCTTTTGGTTGCAGGGGCGA 0.468000 MYCBP2 23077 broad.mit.edu 37 13 77754337 77754337 + Silent SNP G G T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr13:77754337G>T uc001vkf.2 - 35 5035 c.4944C>A c.(4942-4944)TCC>TCA p.S1648S MYCBP2_uc010aev.2_Silent_p.S1052S NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 1648 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) AGACGAGGTGGGAGGAGAAGA 0.483000 C13orf39 196541 broad.mit.edu 37 13 103339401 103339401 + Missense_Mutation SNP C C A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr13:103339401C>A uc001vpj.2 - 3 295 c.289G>T c.(289-291)GCT>TCT p.A97S C13orf39_uc001vpk.2_Missense_Mutation_p.A97S NM_001010977 NP_001010977 Q5VZV1 MT21C_HUMAN hypothetical protein LOC196541 97 methyltransferase activity 0 TGACACAAAGCCATAGCCTAA 0.393000 SLC10A2 6555 broad.mit.edu 37 13 103703660 103703660 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr13:103703660C>T uc001vpy.3 - 4 1305 c.708G>A c.(706-708)GCG>GCA p.A236A NM_000452 NP_000443 Q12908 NTCP2_HUMAN solute carrier family 10 (sodium/bile acid 236 Helical; (Potential). bile acid metabolic process|organic anion transport integral to plasma membrane bile acid:sodium symporter activity ovary(3)|skin(1) 4 all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) GGGAGTAACCCGCCACAGGAA 0.433000 FAM155A 728215 broad.mit.edu 37 13 107822911 107822911 + Missense_Mutation SNP C C A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr13:107822911C>A uc001vql.2 - 3 1827 c.1311G>T c.(1309-1311)CAG>CAT p.Q437H NM_001080396 NP_001073865 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 437 Helical; (Potential). integral to membrane binding skin(1) 1 CGGCTGTGTTCTGTGCTGCCG 0.517000 MYO16 23026 broad.mit.edu 37 13 109661297 109661297 + Missense_Mutation SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr13:109661297T>C uc001vqt.1 + 22 2555 c.2429T>C c.(2428-2430)CTT>CCT p.L810P MYO16_uc010agk.1_Missense_Mutation_p.L832P|MYO16_uc001vqu.1_Missense_Mutation_p.L610P|MYO16_uc010tjh.1_Missense_Mutation_p.L322P NM_015011 NP_055826 Q9Y6X6 MYO16_HUMAN myosin heavy chain Myr 8 810 Myosin head-like 1. cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1) 10 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) AATGAAGTGCTTTTTCTCCAC 0.378000 SLC39A2 29986 broad.mit.edu 37 14 21469346 21469346 + Missense_Mutation SNP G G T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr14:21469346G>T uc001vyr.2 + 4 725 c.538G>T c.(538-540)GGG>TGG p.G180W SLC39A2_uc001vys.2_Missense_Mutation_p.G81W NM_014579 NP_055394 Q9NP94 S39A2_HUMAN solute carrier family 39 (zinc transporter), 180 Helical; (Potential). cytoplasmic membrane-bounded vesicle|integral to plasma membrane zinc ion transmembrane transporter activity ovary(2)|central_nervous_system(1) 3 all_cancers(95;0.00267) OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08) GBM - Glioblastoma multiforme(265;0.0187) AGTGTTTGAAGGGCTAGCTGT 0.567000 HNRNPC 3183 broad.mit.edu 37 14 21681143 21681143 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr14:21681143G>A uc001vzy.2 - 6 782 c.538C>T c.(538-540)CGG>TGG p.R180W HNRNPC_uc001vzw.2_Missense_Mutation_p.R167W|HNRNPC_uc001wad.2_Missense_Mutation_p.R100W|HNRNPC_uc001vzx.2_Intron|HNRNPC_uc001vzz.2_Missense_Mutation_p.R167W|HNRNPC_uc001waa.2_Missense_Mutation_p.R180W|HNRNPC_uc010ail.2_Missense_Mutation_p.R180W|HNRNPC_uc010tlq.1_RNA|HNRNPC_uc001wab.2_Missense_Mutation_p.R167W|HNRNPC_uc001wac.2_Intron|HNRNPC_uc010tlr.1_Missense_Mutation_p.R45W|HNRNPC_uc001waf.2_Missense_Mutation_p.R167W|HNRNPC_uc001wae.2_Missense_Mutation_p.R167W NM_031314 NP_112604 P07910 HNRPC_HUMAN heterogeneous nuclear ribonucleoprotein C 180 catalytic step 2 spliceosome|nucleoplasm identical protein binding|nucleotide binding|RNA binding 0 all_cancers(95;0.00176) Epithelial(56;1.08e-06)|all cancers(55;8.95e-06) GBM - Glioblastoma multiforme(265;0.00783) GAAGATCCCCGCTGTCCACTC 0.428000 MYH6 4624 broad.mit.edu 37 14 23853917 23853917 + Missense_Mutation SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr14:23853917T>C uc001wjv.2 - 36 5366 c.5299A>G c.(5299-5301)ATG>GTG p.M1767V NM_002471 NP_002462 P13533 MYH6_HUMAN myosin heavy chain 6 1767 Potential. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle pancreas(2)|ovary(1)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) TCCTCTGCCATCATGGCGGCC 0.612000 MYH6 4624 broad.mit.edu 37 14 23858161 23858161 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr14:23858161C>T uc001wjv.2 - 29 4149 c.4082G>A c.(4081-4083)CGC>CAC p.R1361H uc010tnn.1_5'Flank|MIR208A_hsa-mir-208a|MI0000251_5'Flank NM_002471 NP_002462 P13533 MYH6_HUMAN myosin heavy chain 6 1361 Potential. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle pancreas(2)|ovary(1)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) GGACAGGACGCGCTGCAGCTC 0.642000 PSME1 5720 broad.mit.edu 37 14 24606965 24606965 + Missense_Mutation SNP T T G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr14:24606965T>G uc001wmg.2 + 6 443 c.349T>G c.(349-351)TTG>GTG p.L117V PSME1_uc001wmh.2_Missense_Mutation_p.L117V NM_006263 NP_006254 Q06323 PSME1_HUMAN proteasome activator subunit 1 isoform 1 117 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|proteasome activator complex ovary(1) 1 GBM - Glioblastoma multiforme(265;0.00831) TCTGCAGCGCTTGAAGCCTGA 0.517000 FOXG1 2290 broad.mit.edu 37 14 29237784 29237784 + Silent SNP C C A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr14:29237784C>A uc001wqe.2 + 1 1498 c.1299C>A c.(1297-1299)TCC>TCA p.S433S NM_005249 NP_005240 P55316 FOXG1_HUMAN forkhead box G1 433 axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development 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 ovary(2)|lung(2) 4 LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575) GBM - Glioblastoma multiforme(265;0.00413) GCAGCACGTCCATGAGCGCCA 0.632000 FAM179B 23116 broad.mit.edu 37 14 45432820 45432820 + Missense_Mutation SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr14:45432820T>C uc001wvv.2 + 1 1405 c.1196T>C c.(1195-1197)CTA>CCA p.L399P FAM179B_uc001wvw.2_Missense_Mutation_p.L399P|FAM179B_uc010anc.2_RNA|KLHL28_uc001wvq.2_5'Flank|KLHL28_uc001wvr.2_5'Flank|FAM179B_uc010anb.1_Missense_Mutation_p.L399P|FAM179B_uc001wvu.2_Missense_Mutation_p.L399P NM_015091 NP_055906 Q9Y4F4 F179B_HUMAN hypothetical protein LOC23116 399 HEAT 2. binding skin(2)|upper_aerodigestive_tract(1) 3 ATTAGTTTGCTATATAATTTG 0.438000 DACT1 51339 broad.mit.edu 37 14 59112499 59112499 + Missense_Mutation SNP G G T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr14:59112499G>T uc001xdw.2 + 4 1322 c.1158G>T c.(1156-1158)CAG>CAT p.Q386H DACT1_uc010trv.1_Missense_Mutation_p.Q105H|DACT1_uc001xdx.2_Missense_Mutation_p.Q349H|DACT1_uc010trw.1_Missense_Mutation_p.Q105H NM_016651 NP_057735 Q9NYF0 DACT1_HUMAN dapper 1 isoform 1 386 multicellular organismal development|Wnt receptor signaling pathway cytoplasm|nucleus large_intestine(2)|lung(2)|ovary(1) 5 GTGTCTCACAGGGCAACAGTG 0.557000 SIX1 6495 broad.mit.edu 37 14 61115476 61115476 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr14:61115476C>T uc001xfb.3 - 1 680 c.432G>A c.(430-432)GCG>GCA p.A144A NM_005982 NP_005973 Q15475 SIX1_HUMAN SIX homeobox 1 144 Homeobox. branching involved in ureteric bud morphogenesis|embryonic cranial skeleton morphogenesis|epithelial cell differentiation|inner ear morphogenesis|mesonephric tubule formation|metanephric mesenchyme development|myoblast migration|negative regulation of neuron apoptosis|organ induction|pattern specification process|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|protein localization to nucleus|regulation of branch elongation involved in ureteric bud branching|regulation of neuron differentiation|skeletal muscle tissue development|thymus development|thyroid gland development nucleolus|transcription factor complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding 0 OV - Ovarian serous cystadenocarcinoma(108;0.0201) AGGGATTGTGCGCGTACCACT 0.627000 SYNE2 23224 broad.mit.edu 37 14 64465745 64465745 + Missense_Mutation SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr14:64465745T>C uc001xgm.2 + 27 3697 c.3467T>C c.(3466-3468)CTG>CCG p.L1156P SYNE2_uc001xgl.2_Missense_Mutation_p.L1156P NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 1156 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) CAGGCTAAACTGACAGATCTA 0.363000 SYNE2 23224 broad.mit.edu 37 14 64644169 64644169 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr14:64644169G>A uc001xgm.2 + 96 17754 c.17524G>A c.(17524-17526)GAG>AAG p.E5842K SYNE2_uc001xgl.2_Missense_Mutation_p.E5842K|SYNE2_uc010apy.2_Missense_Mutation_p.E2227K|SYNE2_uc001xgn.2_Missense_Mutation_p.E804K|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_5'UTR|SYNE2_uc001xgq.2_Missense_Mutation_p.E207K NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 5842 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) AGAGCTTCACGAGGACCTCCA 0.408000 SYNE2 23224 broad.mit.edu 37 14 64692078 64692078 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr14:64692078G>A uc001xgm.2 + 115 20722 c.20492G>A c.(20491-20493)AGG>AAG p.R6831K SYNE2_uc001xgl.2_Missense_Mutation_p.R6853K|SYNE2_uc010apy.2_Missense_Mutation_p.R3216K|SYNE2_uc001xgn.2_Missense_Mutation_p.R1792K|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_Missense_Mutation_p.R801K|SYNE2_uc001xgq.2_Missense_Mutation_p.R1210K|SYNE2_uc001xgr.2_Missense_Mutation_p.R614K|SYNE2_uc010tsi.1_Missense_Mutation_p.R488K|SYNE2_uc001xgs.2_Missense_Mutation_p.R502K|SYNE2_uc001xgt.2_Missense_Mutation_p.R375K NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 6831 Cytoplasmic (Potential).|KASH. 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) TTCCTCTCAAGGGTGGTCCGG 0.483000 SPTB 6710 broad.mit.edu 37 14 65252572 65252572 + Missense_Mutation SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr14:65252572T>C uc001xht.2 - 16 3713 c.3659A>G c.(3658-3660)AAC>AGC p.N1220S SPTB_uc001xhr.2_Missense_Mutation_p.N1220S|SPTB_uc001xhs.2_Missense_Mutation_p.N1220S|SPTB_uc001xhu.2_Missense_Mutation_p.N1220S NM_000347 NP_000338 P11277 SPTB1_HUMAN spectrin beta isoform b 1220 Spectrin 9. actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton ovary(7)|skin(2)|lung(1)|central_nervous_system(1) 11 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) CTTATCCCGGTTGTTCTCCAT 0.522000 FUT8 2530 broad.mit.edu 37 14 66136109 66136109 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr14:66136109G>A uc001xin.2 + 7 1943 c.746G>A c.(745-747)CGC>CAC p.R249H FUT8_uc001xio.2_Missense_Mutation_p.R249H|FUT8_uc010tsp.1_Missense_Mutation_p.R86H|FUT8_uc001xir.3_RNA|FUT8_uc001xip.2_Missense_Mutation_p.R249H|FUT8_uc001xiq.2_Missense_Mutation_p.R120H|FUT8_uc001xis.2_5'Flank NM_178155 NP_835368 Q9BYC5 FUT8_HUMAN fucosyltransferase 8 isoform a 249 Lumenal (Potential). in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding ovary(1) 1 all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114) CAGAATTGGCGCTATGCTACT 0.498000 GPHN 10243 broad.mit.edu 37 14 67576930 67576930 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr14:67576930C>T uc001xiy.2 + 13 2389 c.1268C>T c.(1267-1269)GCA>GTA p.A423V GPHN_uc001xix.2_Missense_Mutation_p.A456V|GPHN_uc010tss.1_Missense_Mutation_p.A469V|GPHN_uc010tst.1_Missense_Mutation_p.A392V|GPHN_uc010tsu.1_Missense_Mutation_p.A346V NM_001024218 NP_001019389 Q9NQX3 GEPH_HUMAN gephyrin isoform 2 423 MPT adenylyltransferase. Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cell junction|cytoplasm|cytoskeleton|postsynaptic membrane ATP binding|metal ion binding|nucleotidyltransferase activity ovary(2) 2 all_cancers(7;0.0476)|all_hematologic(31;0.0116) Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184) GGTGCTGATGCAGTAGTACAA 0.443000 T MLL AL RGS6 9628 broad.mit.edu 37 14 72976872 72976872 + Missense_Mutation SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr14:72976872A>G uc001xna.3 + 14 1499 c.976A>G c.(976-978)AGC>GGC p.S326G RGS6_uc010ttn.1_Missense_Mutation_p.S326G|RGS6_uc001xmx.3_Missense_Mutation_p.S326G|RGS6_uc010tto.1_RNA|RGS6_uc001xmy.3_Missense_Mutation_p.S326G|RGS6_uc010ttp.1_Missense_Mutation_p.S257G|RGS6_uc001xmz.1_Missense_Mutation_p.S187G NM_004296 NP_004287 P49758 RGS6_HUMAN regulator of G-protein signalling 6 326 G protein gamma. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity upper_aerodigestive_tract(1)|lung(1)|skin(1) 3 all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476) CAAAGAGCCCAGCCAACAGCG 0.463000 FLRT2 23768 broad.mit.edu 37 14 86089465 86089465 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr14:86089465G>A uc001xvr.2 + 2 2374 c.1607G>A c.(1606-1608)AGC>AAC p.S536N FLRT2_uc010atd.2_Missense_Mutation_p.S536N NM_013231 NP_037363 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 536 Extracellular (Potential). cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity ovary(3)|haematopoietic_and_lymphoid_tissue(1) 4 BRCA - Breast invasive adenocarcinoma(234;0.0319) ACGTCCCACAGCATGGGCTCC 0.572000 KCNK13 56659 broad.mit.edu 37 14 90651177 90651177 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr14:90651177C>T uc001xye.1 + 2 1499 c.1057C>T c.(1057-1059)CTG>TTG p.L353L NM_022054 NP_071337 Q9HB14 KCNKD_HUMAN potassium channel, subfamily K, member 13 353 Cytoplasmic (Potential). integral to membrane potassium channel activity|voltage-gated ion channel activity skin(1) 1 all_cancers(154;0.186) GAAGGACTTGCTGGCAGCCAA 0.617000 CCDC88C 440193 broad.mit.edu 37 14 91770229 91770229 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr14:91770229C>T uc010aty.2 - 20 3550 c.3451G>A c.(3451-3453)GAA>AAA p.E1151K NM_001080414 NP_001073883 Q9P219 DAPLE_HUMAN DVL-binding protein DAPLE 1151 Potential. microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway cytoplasm|insoluble fraction microtubule binding|PDZ domain binding|protein self-association ovary(3) 3 all_cancers(154;0.0468) TGCAGGCTTTCGTTCTCCGTC 0.652000 CCDC88C 440193 broad.mit.edu 37 14 91779971 91779971 + Missense_Mutation SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr14:91779971T>C uc010aty.2 - 15 2288 c.2189A>G c.(2188-2190)AAC>AGC p.N730S NM_001080414 NP_001073883 Q9P219 DAPLE_HUMAN DVL-binding protein DAPLE 730 Potential. microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway cytoplasm|insoluble fraction microtubule binding|PDZ domain binding|protein self-association ovary(3) 3 all_cancers(154;0.0468) CAGCTGCTGGTTCTCCCTCTC 0.607000 TRIP11 9321 broad.mit.edu 37 14 92472038 92472038 + Missense_Mutation SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr14:92472038T>C uc001xzy.2 - 11 3070 c.2282A>G c.(2281-2283)CAT>CGT p.H761R TRIP11_uc010auf.1_Missense_Mutation_p.H497R NM_004239 NP_004230 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 761 Potential. transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1) 13 COAD - Colon adenocarcinoma(157;0.223) TAAATGCTCATGTTCCAGCTG 0.348000 T PDGFRB AML ITPK1 3705 broad.mit.edu 37 14 93424683 93424683 + Missense_Mutation SNP A A C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr14:93424683A>C uc001ybg.2 - 8 822 c.533T>G c.(532-534)CTG>CGG p.L178R ITPK1_uc001ybe.2_Missense_Mutation_p.L178R|ITPK1_uc001ybf.2_Missense_Mutation_p.L59R|ITPK1_uc001ybh.2_Missense_Mutation_p.L178R NM_014216 NP_055031 Q13572 ITPK1_HUMAN inositol 1,3,4-triphosphate 5/6 kinase isoform 178 ATP-grasp. blood coagulation|inositol trisphosphate metabolic process|signal transduction cytosol ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding 0 all_cancers(154;0.077)|all_epithelial(191;0.247) Epithelial(152;0.124)|all cancers(159;0.169) GATGGCGTTCAGGCCCTCCTG 0.557000 FAM181A 90050 broad.mit.edu 37 14 94395175 94395175 + Missense_Mutation SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr14:94395175A>G uc001ybz.1 + 3 1037 c.730A>G c.(730-732)ACC>GCC p.T244A C14orf86_uc001yby.2_5'Flank|FAM181A_uc010aus.1_Missense_Mutation_p.T182A|FAM181A_uc001yca.1_Missense_Mutation_p.T182A NM_138344 NP_612353 Q8N9Y4 F181A_HUMAN hypothetical protein LOC90050 244 0 ACCTGAGACTACCCTGGTGTC 0.627000 C14orf49 161176 broad.mit.edu 37 14 95922000 95922000 + Missense_Mutation SNP G G A rs143391386 TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr14:95922000G>A uc001yei.3 - 5 866 c.851C>T c.(850-852)GCG>GTG p.A284V C14orf49_uc010avi.2_Missense_Mutation_p.A284V|C14orf49_uc001yej.1_Missense_Mutation_p.A284V NM_152592 NP_689805 Q6ZMZ3 SYNE3_HUMAN nesprin-3 284 Spectrin 1.|Cytoplasmic (Potential). cytoskeletal anchoring at nuclear membrane integral to membrane|nuclear outer membrane|SUN-KASH complex actin binding central_nervous_system(1) 1 all_cancers(154;0.0937) COAD - Colon adenocarcinoma(157;0.245) AATGACACCCGCAGACTGCTC 0.567000 EML1 2009 broad.mit.edu 37 14 100363543 100363543 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr14:100363543G>A uc001ygs.2 + 7 808 c.739G>A c.(739-741)GTC>ATC p.V247I EML1_uc010avt.1_Missense_Mutation_p.V234I|EML1_uc010tww.1_Missense_Mutation_p.V235I|EML1_uc001ygq.2_Missense_Mutation_p.V266I|EML1_uc001ygr.2_Missense_Mutation_p.V266I NM_004434 NP_004425 O00423 EMAL1_HUMAN echinoderm microtubule associated protein like 1 247 cytoplasm|microtubule|microtubule associated complex calcium ion binding|protein binding large_intestine(2)|pancreas(1)|ovary(1)|skin(1) 5 Melanoma(154;0.0879)|all_epithelial(191;0.216) GGGAGAGACCGTCTACTTCAT 0.488000 CDC42BPB 9578 broad.mit.edu 37 14 103430922 103430922 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr14:103430922C>T uc001ymi.1 - 19 2875 c.2643G>A c.(2641-2643)TCG>TCA p.S881S CDC42BPB_uc001ymj.1_Silent_p.S9S NM_006035 NP_006026 Q9Y5S2 MRCKB_HUMAN CDC42-binding protein kinase beta 881 Potential. actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm|cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1) 11 Melanoma(154;0.155) Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199) CCTCCAGGGCCGACTGCAGCT 0.607000 HERC2 8924 broad.mit.edu 37 15 28408263 28408263 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr15:28408263C>T uc001zbj.2 - 69 10829 c.10723G>A c.(10723-10725)GGC>AGC p.G3575S NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 3575 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) GTCCCCATGCCGGAAAGCACC 0.647000 HERC2 8924 broad.mit.edu 37 15 28437159 28437159 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr15:28437159C>T uc001zbj.2 - 53 8505 c.8399G>A c.(8398-8400)CGT>CAT p.R2800H HERC2_uc001zbk.1_Missense_Mutation_p.R335H NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 2800 DOC. DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) GTCAATGAGACGGGATGCCTG 0.597000 OREG0022997 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) CHRNA7 1139 broad.mit.edu 37 15 32460269 32460269 + Silent SNP C C T rs150888391 TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr15:32460269C>T uc001zft.2 + 10 1191 c.1119C>T c.(1117-1119)GCC>GCT p.A373A uc001zfv.1_Intron|CHRNA7_uc010baf.2_Silent_p.A192A|CHRNA7_uc010bak.2_Silent_p.A288A NM_000746 NP_000737 P36544 ACHA7_HUMAN cholinergic receptor, nicotinic, alpha 7 373 Cytoplasmic (Potential). activation of MAPK activity|calcium ion transport|cellular calcium ion homeostasis|memory|negative regulation of tumor necrosis factor production|positive regulation of angiogenesis|positive regulation of cell proliferation|response to hypoxia|response to nicotine cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|beta-amyloid binding|chloride channel regulator activity|nicotinic acetylcholine-activated cation-selective channel activity|protein homodimerization activity|toxin binding ovary(1) 1 all_lung(180;6.35e-11) all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227) Nicotine(DB00184)|Varenicline(DB01273) AGATGAGCGCCGTGGCGCCGC 0.701000 MEIS2 4212 broad.mit.edu 37 15 37184485 37184485 + Silent SNP G G A rs139991974 TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr15:37184485G>A uc001zjr.2 - 12 2360 c.1323C>T c.(1321-1323)CAC>CAT p.H441H MEIS2_uc001zjl.2_3'UTR|MEIS2_uc010ucj.1_Silent_p.H421H|MEIS2_uc001zjm.2_3'UTR|MEIS2_uc001zjn.2_3'UTR|MEIS2_uc001zjo.2_3'UTR|MEIS2_uc001zjp.2_3'UTR|MEIS2_uc001zjs.2_Silent_p.H434H|MEIS2_uc001zju.2_3'UTR|MEIS2_uc001zjt.2_Silent_p.H434H|MEIS2_uc001zjj.2_Silent_p.H137H|MEIS2_uc001zjk.2_Silent_p.H130H NM_170675 NP_733775 O14770 MEIS2_HUMAN Meis homeobox 2 isoform c 441 negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(2) 2 all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155) all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288) GGGGTCCTCCGTGCATCATCA 0.522000 SPRED1 161742 broad.mit.edu 37 15 38614539 38614539 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr15:38614539C>T uc001zka.3 + 3 640 c.305C>T c.(304-306)ACG>ATG p.T102M NM_152594 NP_689807 Q7Z699 SPRE1_HUMAN sprouty-related protein 1 with EVH-1 domain 102 WH1. inactivation of MAPK activity|multicellular organismal development caveola|nucleus stem cell factor receptor binding ovary(2)|lung(2)|skin(1) 5 all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244) TTTGGTCTTACGTTTCAAAGT 0.368000 Legius_syndrome EIF2AK4 440275 broad.mit.edu 37 15 40322596 40322596 + Missense_Mutation SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr15:40322596T>C uc001zkm.1 + 35 4648 c.4598T>C c.(4597-4599)ATT>ACT p.I1533T EIF2AK4_uc010bbj.1_Missense_Mutation_p.I1234T|EIF2AK4_uc001zkn.1_Missense_Mutation_p.I633T|EIF2AK4_uc001zko.1_Missense_Mutation_p.I414T|EIF2AK4_uc010bbk.1_RNA NM_001013703 NP_001013725 Q9P2K8 E2AK4_HUMAN eukaryotic translation initiation factor 2 alpha 1533 translation cytosolic ribosome aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity lung(2)|stomach(1)|skin(1) 4 all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616) GTGGTTCCCATTGTGAGTGTG 0.468000 OREG0023054 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) CASC5 57082 broad.mit.edu 37 15 40937929 40937929 + Nonsense_Mutation SNP G G T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr15:40937929G>T uc010bbs.1 + 17 6204 c.6043G>T c.(6043-6045)GGA>TGA p.G2015* CASC5_uc010bbt.1_Nonsense_Mutation_p.G1989* NM_170589 NP_733468 Q8NG31 CASC5_HUMAN cancer susceptibility candidate 5 isoform 1 2015 Necessary for kinetochore localization and for interaction with NSL1 and DSN1.|Potential. acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm protein binding breast(3)|central_nervous_system(1)|skin(1) 5 all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211) CACTCACCAAGGAAAAGTGGC 0.363000 MAPKBP1 23005 broad.mit.edu 37 15 42106789 42106789 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr15:42106789C>T uc001zok.3 + 11 1326 c.1040C>T c.(1039-1041)ACC>ATC p.T347I MAPKBP1_uc001zoj.3_Missense_Mutation_p.T341I|MAPKBP1_uc010bcj.2_Intron|MAPKBP1_uc010bci.2_Missense_Mutation_p.T341I|MAPKBP1_uc010udb.1_Missense_Mutation_p.T229I|MAPKBP1_uc010bck.2_5'UTR|MAPKBP1_uc010bcl.2_Intron NM_001128608 NP_001122080 O60336 MABP1_HUMAN mitogen-activated protein kinase binding protein 347 WD 5. central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 10 all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225) TATCCAGACACCATTGCCTTG 0.498000 MAPKBP1 23005 broad.mit.edu 37 15 42111819 42111819 + Nonsense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr15:42111819C>T uc001zok.3 + 23 2756 c.2470C>T c.(2470-2472)CGA>TGA p.R824* MAPKBP1_uc001zoj.3_Nonsense_Mutation_p.R818*|MAPKBP1_uc010bcj.2_Nonsense_Mutation_p.R325*|MAPKBP1_uc010bci.2_Nonsense_Mutation_p.R818*|MAPKBP1_uc010udb.1_Nonsense_Mutation_p.R657*|MAPKBP1_uc010bck.2_Nonsense_Mutation_p.R35*|MAPKBP1_uc010bcl.2_Nonsense_Mutation_p.R325* NM_001128608 NP_001122080 O60336 MABP1_HUMAN mitogen-activated protein kinase binding protein 824 central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 10 all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225) AGCTTTGCCCCGAAGCCTGTC 0.612000 SPTBN5 51332 broad.mit.edu 37 15 42150833 42150833 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr15:42150833G>A uc001zos.2 - 49 8421 c.8088C>T c.(8086-8088)GAC>GAT p.D2696D NM_016642 NP_057726 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 2731 Spectrin 24. actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin ovary(1)|central_nervous_system(1) 2 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) GCATGCTCGCGTCCAGCTCCG 0.617000 UBR1 197131 broad.mit.edu 37 15 43317086 43317086 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr15:43317086C>T uc001zqq.2 - 25 2746 c.2680G>A c.(2680-2682)GTA>ATA p.V894I UBR1_uc010udk.1_Missense_Mutation_p.V894I NM_174916 NP_777576 Q8IWV7 UBR1_HUMAN ubiquitin protein ligase E3 component n-recognin 894 cellular response to leucine|negative regulation of TOR signaling cascade cytosol leucine binding|zinc ion binding lung(1) 1 all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214) CGCTCAAATACGGTCCTGAGA 0.433000 GLDN 342035 broad.mit.edu 37 15 51634200 51634200 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr15:51634200G>A uc002aba.2 + 1 488 c.319G>A c.(319-321)GAG>AAG p.E107K GLDN_uc010bez.1_Missense_Mutation_p.E107K NM_181789 NP_861454 Q6ZMI3 GLDN_HUMAN gliomedin 107 Extracellular (Potential). cell differentiation|nervous system development collagen|integral to membrane|plasma membrane ovary(2) 2 all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942) TATCCGCGCCGAGAGCCATGA 0.721000 WDR72 256764 broad.mit.edu 37 15 54025291 54025291 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr15:54025291C>T uc002acj.2 - 2 98 c.56G>A c.(55-57)AGC>AAC p.S19N WDR72_uc010bfi.1_Missense_Mutation_p.S19N NM_182758 NP_877435 Q3MJ13 WDR72_HUMAN WD repeat domain 72 19 WD 1. lung(1)|skin(1) 2 all cancers(107;0.0511) GGCAGTGATGCTGTGGGGAGG 0.512000 UNC13C 440279 broad.mit.edu 37 15 54307129 54307129 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr15:54307129G>A uc002ack.2 + 1 2029 c.2029G>A c.(2029-2031)GAT>AAT p.D677N NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 677 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(5)|pancreas(2) 7 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) GGAAGGTTTTGATTATGAAAC 0.403000 SLTM 79811 broad.mit.edu 37 15 59180672 59180672 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr15:59180672G>A uc002afp.2 - 17 2375 c.2287C>T c.(2287-2289)CGC>TGC p.R763C SLTM_uc002afn.2_Missense_Mutation_p.R305C|SLTM_uc002afo.2_Missense_Mutation_p.R745C|SLTM_uc002afq.2_Missense_Mutation_p.R332C|SLTM_uc010bgd.2_Missense_Mutation_p.R332C NM_024755 NP_079031 Q9NWH9 SLTM_HUMAN modulator of estrogen induced transcription 763 Arg/Glu-rich. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding ovary(1) 1 TTCTGTTGGCGAGAGTAGTCG 0.428000 USP3 9960 broad.mit.edu 37 15 63882887 63882887 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr15:63882887C>T uc002amf.2 + 15 1554 c.1425C>T c.(1423-1425)TAC>TAT p.Y475Y USP3_uc002amg.2_Silent_p.Y390Y|USP3_uc002amh.2_Silent_p.Y453Y|USP3_uc010uij.1_Silent_p.Y431Y|USP3_uc010uik.1_Silent_p.Y226Y|USP3_uc010bgs.2_Silent_p.Y458Y|USP3_uc002ami.2_Silent_p.Y306Y|uc002amj.2_Intron|uc002amk.2_Intron|uc002aml.2_Intron NM_006537 NP_006528 Q9Y6I4 UBP3_HUMAN ubiquitin thiolesterase 3 475 DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process nuclear chromatin histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding lung(1) 1 GBM - Glioblastoma multiforme(80;0.0187) ACACAGCATACGCAACTCACG 0.443000 DIS3L 115752 broad.mit.edu 37 15 66607413 66607413 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr15:66607413G>A uc010ujm.1 + 7 869 c.854G>A c.(853-855)CGA>CAA p.R285Q DIS3L_uc010ujl.1_5'UTR|DIS3L_uc002app.2_Missense_Mutation_p.R202Q|DIS3L_uc002apq.2_Missense_Mutation_p.R285Q|DIS3L_uc010bho.2_Missense_Mutation_p.R151Q NM_001143688 NP_001137160 Q8TF46 DI3L1_HUMAN DIS3 mitotic control homolog (S. 285 rRNA catabolic process cytoplasm|exosome (RNase complex) exonuclease activity|protein binding|ribonuclease activity|RNA binding ovary(2) 2 ATGAAGGCTCGAAACCGCTCA 0.483000 PML 5371 broad.mit.edu 37 15 74337044 74337044 + Nonsense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr15:74337044C>T uc002awv.2 + 9 2484 c.2344C>T c.(2344-2346)CAG>TAG p.Q782* PML_uc002awu.2_Nonsense_Mutation_p.Q734*|PML_uc010ule.1_Nonsense_Mutation_p.Q343* NM_033238 NP_150241 P29590 PML_HUMAN promyelocytic leukemia protein isoform 1 782 cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body cobalt ion binding|DNA binding|protein binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding|zinc ion binding central_nervous_system(2)|kidney(2)|breast(1) 5 TGCCTCCCTGCAGCCCCTGGT 0.682000 T RARA|PAX5 APL|ALL KIAA1199 57214 broad.mit.edu 37 15 81234667 81234667 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr15:81234667G>A uc002bfw.1 + 26 3948 c.3688G>A c.(3688-3690)GCT>ACT p.A1230T KIAA1199_uc010unn.1_Missense_Mutation_p.A1230T NM_018689 NP_061159 Q8WUJ3 K1199_HUMAN KIAA1199 precursor 1230 upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 GAACGACTTCGCTTACATTGA 0.478000 TMC3 342125 broad.mit.edu 37 15 81627235 81627235 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr15:81627235G>A uc002bgo.1 - 21 2285 c.2285C>T c.(2284-2286)TCG>TTG p.S762L TMC3_uc010blr.1_RNA NM_001080532 NP_001074001 Q7Z5M5 TMC3_HUMAN transmembrane channel-like 3 762 Cytoplasmic (Potential). integral to membrane ovary(1)|liver(1) 2 GGGTGTGCCCGAGTGCGCTGA 0.587000 DET1 55070 broad.mit.edu 37 15 89074847 89074847 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr15:89074847G>A uc002bmr.2 - 2 242 c.90C>T c.(88-90)GGC>GGT p.G30G DET1_uc002bmp.3_RNA|DET1_uc010bnk.2_RNA|DET1_uc002bmq.2_Silent_p.G41G NM_001144074 NP_001137546 Q7L5Y6 DET1_HUMAN de-etiolated 1 isoform 2 30 nucleus lung(1)|pancreas(1) 2 Lung NSC(78;0.105)|all_lung(78;0.182) BRCA - Breast invasive adenocarcinoma(143;0.188) TACCTGCCTTGCCTGAACTGA 0.478000 IQGAP1 8826 broad.mit.edu 37 15 91040462 91040462 + Splice_Site SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr15:91040462A>G uc002bpl.1 + 37 4853 c.4752_splice c.e37-2 p.Q1584_splice IQGAP1_uc010uqg.1_Splice_Site_p.Q205_splice NM_003870 NP_003861 P46940 IQGA1_HUMAN IQ motif containing GTPase activating protein 1 energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction actin filament|cytoplasm|midbody|nucleus|plasma membrane calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1) 8 Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488) BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) ATCTTTCAACAGGTTTAAAAA 0.328000 MCTP2 55784 broad.mit.edu 37 15 94901733 94901733 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr15:94901733C>T uc002btj.2 + 9 1258 c.1193C>T c.(1192-1194)CCG>CTG p.P398L MCTP2_uc010urg.1_Intron|MCTP2_uc002bti.2_Missense_Mutation_p.P398L|MCTP2_uc010boj.2_Missense_Mutation_p.P127L|MCTP2_uc010bok.2_Missense_Mutation_p.P398L|MCTP2_uc002btk.3_Intron|MCTP2_uc002btl.2_Intron NM_018349 NP_060819 Q6DN12 MCTP2_HUMAN multiple C2 domains, transmembrane 2 isoform 1 398 C2 2. calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding ovary(1)|pancreas(1)|skin(1) 3 Lung NSC(78;0.0821)|all_lung(78;0.148) BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593) AGTGCAAATCCGCAGTGGCAG 0.378000 MEF2A 4205 broad.mit.edu 37 15 100250898 100250898 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr15:100250898C>T uc010urw.1 + 10 1434 c.1075C>T c.(1075-1077)CTG>TTG p.L359L MEF2A_uc010urv.1_Silent_p.L289L|MEF2A_uc010bos.2_Silent_p.L349L|MEF2A_uc002bvf.2_Silent_p.L351L|MEF2A_uc002bve.2_Silent_p.L357L|MEF2A_uc002bvg.2_Silent_p.L349L|MEF2A_uc002bvi.2_Silent_p.L349L|MEF2A_uc010bot.2_Silent_p.L281L NM_005587 NP_005578 Q02078 MEF2A_HUMAN myocyte enhancer factor 2A isoform 1 359 apoptosis|BMK cascade|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|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|ventricular cardiac myofibril development nuclear chromatin|nucleoplasm activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|SMAD binding ovary(1) 1 Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163) OV - Ovarian serous cystadenocarcinoma(32;0.00085) GCCAGGAATGCTGTCGCTGGG 0.527000 RHOT2 89941 broad.mit.edu 37 16 720944 720944 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr16:720944C>T uc002cip.2 + 10 759 c.692C>T c.(691-693)ACG>ATG p.T231M RHOT2_uc002ciq.2_Missense_Mutation_p.T124M|RHOT2_uc010bqy.2_Translation_Start_Site NM_138769 NP_620124 Q8IXI1 MIRO2_HUMAN ras homolog gene family, member T2 231 Mitochondrial intermembrane (Potential). apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|integral to mitochondrial outer membrane|plasma membrane calcium ion binding|GTP binding|GTPase activity|protein binding pancreas(1) 1 Hepatocellular(780;0.0218) GACGTGAAGACGGTGGTGTGC 0.697000 CCDC78 124093 broad.mit.edu 37 16 773012 773012 + Missense_Mutation SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr16:773012T>C uc002cjg.2 - 13 1313 c.1207A>G c.(1207-1209)AAC>GAC p.N403D CCDC78_uc002cjf.2_Missense_Mutation_p.E253G|CCDC78_uc002cji.3_3'UTR|CCDC78_uc002cjj.3_3'UTR|CCDC78_uc002cjh.2_Missense_Mutation_p.E163G NM_001031737 NP_001026907 A2IDD5 CCD78_HUMAN coiled-coil domain containing 78 403 central_nervous_system(1) 1 Hepatocellular(780;0.0218) CCGCTCCCGTTCCAGCTCTGC 0.647000 MAPK8IP3 23162 broad.mit.edu 37 16 1817234 1817234 + Missense_Mutation SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr16:1817234A>G uc002cmk.2 + 26 3290 c.3170A>G c.(3169-3171)GAC>GGC p.D1057G MAPK8IP3_uc002cml.2_Missense_Mutation_p.D1051G|MAPK8IP3_uc010uvl.1_Missense_Mutation_p.D1058G NM_015133 NP_055948 Q9UPT6 JIP3_HUMAN mitogen-activated protein kinase 8 interacting 1057 vesicle-mediated transport Golgi membrane kinesin binding|MAP-kinase scaffold activity|protein kinase binding breast(2)|central_nervous_system(1) 3 GTTGTGTACGACCGCGTGTGG 0.632000 C16orf73 254528 broad.mit.edu 37 16 1889367 1889367 + Missense_Mutation SNP A A C rs145222212 TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr16:1889367A>C uc002cne.2 - 12 1225 c.1107T>G c.(1105-1107)TTT>TTG p.F369L FAHD1_uc002cnd.2_3'UTR|FAHD1_uc010brz.2_3'UTR|C16orf73_uc010uvq.1_Missense_Mutation_p.F369L|C16orf73_uc010uvr.1_Missense_Mutation_p.F162L NM_152764 NP_689977 Q8N635 CP073_HUMAN hypothetical protein LOC254528 isoform 2 369 meiosis cytoplasm 0 AGACAGATTTAAAGTCCAAGG 0.393000 E4F1 1877 broad.mit.edu 37 16 2285460 2285460 + Nonsense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr16:2285460C>T uc002cpm.2 + 14 2290 c.2242C>T c.(2242-2244)CAG>TAG p.Q748* E4F1_uc010bsi.2_3'UTR|E4F1_uc010bsj.2_Nonsense_Mutation_p.Q571*|DNASE1L2_uc002cpn.2_5'Flank|DNASE1L2_uc002cpo.2_5'Flank|DNASE1L2_uc002cpp.2_5'Flank|DNASE1L2_uc002cpq.2_5'Flank NM_004424 NP_004415 Q66K89 E4F1_HUMAN p120E4F 748 cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth cytoplasm|nucleoplasm DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(1) 1 TGGCACTGAACAGGCCACTGT 0.657000 A2BP1 54715 broad.mit.edu 37 16 7645563 7645563 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr16:7645563G>A uc002cys.2 + 8 1469 c.481G>A c.(481-483)GTA>ATA p.V161I A2BP1_uc010buf.1_Missense_Mutation_p.V161I|A2BP1_uc002cyr.1_Missense_Mutation_p.V160I|A2BP1_uc002cyt.2_Missense_Mutation_p.V161I|A2BP1_uc010uxz.1_Missense_Mutation_p.V204I|A2BP1_uc010uya.1_Intron|A2BP1_uc002cyv.1_Missense_Mutation_p.V161I|A2BP1_uc010uyb.1_Missense_Mutation_p.V161I|A2BP1_uc002cyw.2_Missense_Mutation_p.V181I|A2BP1_uc002cyy.2_Missense_Mutation_p.V181I|A2BP1_uc002cyx.2_Missense_Mutation_p.V181I|A2BP1_uc010uyc.1_Missense_Mutation_p.V181I NM_018723 NP_061193 Q9NWB1 RFOX1_HUMAN ataxin 2-binding protein 1 isoform 4 161 RRM. mRNA processing|RNA splicing|RNA transport nucleus|trans-Golgi network nucleotide binding|protein C-terminus binding|RNA binding 0 all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211) Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499) ATTTGGTTTCGTAACTTTCGA 0.443000 CPPED1 55313 broad.mit.edu 37 16 12798506 12798506 + Missense_Mutation SNP C C A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr16:12798506C>A uc002dca.3 - 3 801 c.690G>T c.(688-690)AAG>AAT p.K230N CPPED1_uc002dcb.3_Intron|CPPED1_uc002dbz.3_RNA NM_018340 NP_060810 Q9BRF8 CPPED_HUMAN calcineurin-like phosphoesterase domain 230 K -> E (in Ref. 2; BAA92034). hydrolase activity|metal ion binding 0 TGTCTGCCAACTTCTTCCGAG 0.567000 CDR2 1039 broad.mit.edu 37 16 22358554 22358554 + Missense_Mutation SNP T T G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr16:22358554T>G uc002dkn.2 - 5 1405 c.1097A>C c.(1096-1098)AAG>ACG p.K366T NM_001802 NP_001793 Q01850 CDR2_HUMAN cerebellar degeneration-related protein 2 366 Potential. nucleus protein binding skin(1) 1 GBM - Glioblastoma multiforme(48;0.0188) CTCTTGGCACTTCTTCAGCAA 0.572000 HS3ST4 9951 broad.mit.edu 37 16 26146979 26146979 + Missense_Mutation SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr16:26146979A>G uc002dof.2 + 2 1173 c.781A>G c.(781-783)ACT>GCT p.T261A NM_006040 NP_006031 Q9Y661 HS3S4_HUMAN heparan sulfate D-glucosaminyl 261 Lumenal (Potential).|Substrate binding (By similarity). heparan sulfate proteoglycan metabolic process extracellular region|Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity large_intestine(1)|breast(1) 2 GBM - Glioblastoma multiforme(48;0.0988) CATGGAGAAGACTCCAAGTTA 0.473000 CORO1A 11151 broad.mit.edu 37 16 30198745 30198745 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr16:30198745G>A uc002dww.2 + 6 801 c.679G>A c.(679-681)GTG>ATG p.V227M uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|CORO1A_uc010bzq.2_Missense_Mutation_p.V227M|CORO1A_uc010bzr.2_Missense_Mutation_p.V227M|CORO1A_uc002dwx.2_Missense_Mutation_p.V121M|CORO1A_uc002dwy.1_Missense_Mutation_p.V71M|LOC606724_uc002dwz.1_5'Flank NM_007074 NP_009005 P31146 COR1A_HUMAN coronin, actin binding protein, 1A 227 WD 5. cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity 0 CGTGCGTGCAGTGTTCGTGTC 0.642000 ZNF689 115509 broad.mit.edu 37 16 30616501 30616501 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr16:30616501C>T uc002dyx.2 - 3 907 c.587G>A c.(586-588)CGG>CAG p.R196Q ZNF689_uc010bzy.2_5'UTR NM_138447 NP_612456 Q96CS4 ZN689_HUMAN zinc finger protein HIT-39 196 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(24;0.198) GTGTGCCCGCCGGTGACTGAC 0.592000 RNF40 9810 broad.mit.edu 37 16 30777494 30777494 + Missense_Mutation SNP T T A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr16:30777494T>A uc002dzq.2 + 9 1127 c.1004T>A c.(1003-1005)CTG>CAG p.L335Q RNF40_uc010caa.2_Missense_Mutation_p.L335Q|RNF40_uc010cab.2_Intron|RNF40_uc010vfa.1_Intron|RNF40_uc002dzr.2_Missense_Mutation_p.L335Q|RNF40_uc010vfb.1_Intron|RNF40_uc010vfc.1_5'Flank NM_014771 NP_055586 O75150 BRE1B_HUMAN ring finger protein 40 335 Potential. histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process nucleus|synaptosome|ubiquitin ligase complex protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1) 1 Colorectal(24;0.198) TTTGAGATGCTGAATGCAGAG 0.587000 ZNF629 23361 broad.mit.edu 37 16 30794713 30794713 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr16:30794713G>A uc002dzs.1 - 3 1144 c.936C>T c.(934-936)CAC>CAT p.H312H NM_001080417 NP_001073886 Q9UEG4 ZN629_HUMAN zinc finger protein 629 312 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(24;0.198) TCTCGCCCGCGTGGATCTTCT 0.637000 ZNF629 23361 broad.mit.edu 37 16 30795016 30795016 + Silent SNP G G A rs150923812 by1000genomes TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr16:30795016G>A uc002dzs.1 - 3 841 c.633C>T c.(631-633)TGC>TGT p.C211C NM_001080417 NP_001073886 Q9UEG4 ZN629_HUMAN zinc finger protein 629 211 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(24;0.198) AGCACTTGCCGCAGTCGGGGC 0.642000 LONP2 83752 broad.mit.edu 37 16 48304164 48304164 + Missense_Mutation SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr16:48304164A>G uc002efi.1 + 7 1309 c.1220A>G c.(1219-1221)CAG>CGG p.Q407R LONP2_uc010vgm.1_RNA|LONP2_uc002efj.1_Missense_Mutation_p.Q363R NM_031490 NP_113678 Q86WA8 LONP2_HUMAN peroxisomal LON protease-like 407 misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing nucleoid|peroxisomal matrix ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity 0 GTATGTGATCAGTCTGACATT 0.453000 ZNF423 23090 broad.mit.edu 37 16 49670324 49670324 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr16:49670324C>T uc002efs.2 - 5 3037 c.2739G>A c.(2737-2739)CCG>CCA p.P913P ZNF423_uc010vgn.1_Silent_p.P796P NM_015069 NP_055884 Q2M1K9 ZN423_HUMAN zinc finger protein 423 913 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(1)|lung(1)|kidney(1)|pancreas(1) 4 all_cancers(37;0.0155) CATCCTCGCCCGGCCGGATAT 0.592000 ADCY7 113 broad.mit.edu 37 16 50338342 50338342 + Silent SNP G G A rs139027886 TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr16:50338342G>A uc002egd.1 + 10 1708 c.1440G>A c.(1438-1440)GCG>GCA p.A480A ADCY7_uc002egb.1_Silent_p.A480A|ADCY7_uc002egc.1_Silent_p.A480A NM_001114 NP_001105 P51828 ADCY7_HUMAN adenylate cyclase 7 480 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding skin(1) 1 all_cancers(37;0.0127) GBM - Glioblastoma multiforme(240;0.195) Bromocriptine(DB01200) AGATGCGGGCGTCAGTGCGCA 0.687000 SNX20 124460 broad.mit.edu 37 16 50711346 50711346 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr16:50711346C>T uc002egk.2 - 2 265 c.92G>A c.(91-93)GGC>GAC p.G31D SNX20_uc010vgp.1_Missense_Mutation_p.G31D|SNX20_uc002egi.3_Missense_Mutation_p.G31D NM_182854 NP_878274 Q7Z614 SNX20_HUMAN sorting nexin 20 isoform 1 31 cell communication|protein transport endosome membrane|nucleus|plasma membrane phosphatidylinositol binding|protein binding ovary(1) 1 GAGGTCGGGGCCAGTGGCTGG 0.617000 GPR56 9289 broad.mit.edu 37 16 57690467 57690467 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr16:57690467G>A uc002emb.2 + 10 1397 c.1105G>A c.(1105-1107)GTC>ATC p.V369I GPR56_uc002elz.1_Missense_Mutation_p.V199I|GPR56_uc002ema.1_Missense_Mutation_p.V194I|GPR56_uc002emc.2_Missense_Mutation_p.V369I|GPR56_uc002emf.2_Missense_Mutation_p.V369I|GPR56_uc010vhs.1_Missense_Mutation_p.V369I|GPR56_uc002emd.2_Missense_Mutation_p.V369I|GPR56_uc002eme.2_Missense_Mutation_p.V369I|GPR56_uc010vht.1_Missense_Mutation_p.V374I|GPR56_uc002emg.3_Missense_Mutation_p.V369I|GPR56_uc010vhu.1_Missense_Mutation_p.V194I NM_005682 NP_005673 Q9Y653 GPR56_HUMAN G protein-coupled receptor 56 isoform a 369 GPS.|Extracellular (Potential). brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway integral to plasma membrane G-protein coupled receptor activity 0 GTGTGAGACCGTCAGGAGAGA 0.607000 GFOD2 81577 broad.mit.edu 37 16 67709273 67709273 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr16:67709273G>A uc002eub.2 - 3 1238 c.943C>T c.(943-945)CGC>TGC p.R315C GFOD2_uc002eua.1_RNA|GFOD2_uc002euc.2_Missense_Mutation_p.R210C NM_030819 NP_110446 Q3B7J2 GFOD2_HUMAN glucose-fructose oxidoreductase domain 315 proteinaceous extracellular matrix binding|oxidoreductase activity ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242) AAGGACTGGCGCAAGGCCTGC 0.677000 COG4 25839 broad.mit.edu 37 16 70542363 70542363 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr16:70542363C>T uc002ezc.2 - 8 1018 c.1007G>A c.(1006-1008)CGG>CAG p.R336Q COG4_uc002ezb.2_5'UTR|COG4_uc010cfu.2_RNA|COG4_uc002ezd.2_Missense_Mutation_p.R336Q|COG4_uc002eze.2_Missense_Mutation_p.R30Q NM_015386 NP_056201 Q9H9E3 COG4_HUMAN component of oligomeric golgi complex 4 332 Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|Golgi transport complex protein binding 0 Ovarian(137;0.0694) CTGAACATGCCGGAACTGCAA 0.423000 HYDIN 54768 broad.mit.edu 37 16 71054191 71054191 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr16:71054191G>A uc002ezr.2 - 22 3344 c.3216C>T c.(3214-3216)TAC>TAT p.Y1072Y NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN hydrocephalus inducing isoform a 1072 ovary(1)|skin(1) 2 Ovarian(137;0.0654) CCAAGGGCTGGTAATCAGGTT 0.408000 CALB2 794 broad.mit.edu 37 16 71423676 71423676 + Missense_Mutation SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr16:71423676A>G uc002faa.3 + 11 794 c.724A>G c.(724-726)AAC>GAC p.N242D CALB2_uc010vme.1_RNA|CALB2_uc002fac.3_3'UTR NM_001740 NP_001731 P22676 CALB2_HUMAN calbindin 2 isoform 1 242 EF-hand 6. calcium ion binding 0 Ovarian(137;0.125) ACAGCTCACCAACTACAGAAA 0.542000 PMFBP1 83449 broad.mit.edu 37 16 72184645 72184645 + Missense_Mutation SNP C C A rs146046061 TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr16:72184645C>A uc002fcc.3 - 5 670 c.498G>T c.(496-498)TTG>TTT p.L166F PMFBP1_uc002fcd.2_Missense_Mutation_p.L166F|PMFBP1_uc002fce.2_RNA|PMFBP1_uc002fcf.2_Missense_Mutation_p.L21F NM_031293 NP_112583 Q8TBY8 PMFBP_HUMAN polyamine modulated factor 1 binding protein 1 166 Potential. ovary(2) 2 Ovarian(137;0.179) TGTCCCCGGCCAAGGCGAGTT 0.493000 ZFHX3 463 broad.mit.edu 37 16 72822363 72822363 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr16:72822363G>A uc002fck.2 - 10 10485 c.9812C>T c.(9811-9813)ACG>ATG p.T3271M ZFHX3_uc002fcl.2_Missense_Mutation_p.T2357M NM_006885 NP_008816 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 isoform A 3271 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(2)|skin(2) 4 Ovarian(137;0.13) GGCTGAGATCGTGGCTGCAGT 0.602000 ADAMTS18 170692 broad.mit.edu 37 16 77369762 77369762 + Missense_Mutation SNP C C T rs149189203 byFrequency TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr16:77369762C>T uc002ffc.3 - 12 2169 c.1750G>A c.(1750-1752)GGG>AGG p.G584R ADAMTS18_uc010chc.1_Missense_Mutation_p.G172R|ADAMTS18_uc002ffe.1_Missense_Mutation_p.G280R NM_199355 NP_955387 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 584 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1) 18 GGCCGGGGCCCGAGCTCCCCA 0.587000 KCNG4 93107 broad.mit.edu 37 16 84270710 84270710 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr16:84270710C>T uc010voc.1 - 2 503 c.382G>A c.(382-384)GCG>ACG p.A128T KCNG4_uc002fhu.1_Missense_Mutation_p.A128T NM_172347 NP_758857 Q8TDN1 KCNG4_HUMAN potassium voltage-gated channel, subfamily G, 128 Helical; Name=Segment S1; (Potential). voltage-gated potassium channel complex voltage-gated potassium channel activity breast(3) 3 TTCCCGGCCGCCAGGAAGCTC 0.637000 ZFPM1 161882 broad.mit.edu 37 16 88600773 88600773 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr16:88600773C>T uc002fkv.2 + 10 2440 c.2407C>T c.(2407-2409)CGC>TGC p.R803C NM_153813 NP_722520 Q8IX07 FOG1_HUMAN zinc finger protein, multitype 1 803 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm DNA binding|transcription factor binding|zinc ion binding central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.0478) GAAGCCGCGGCGCCCGCTCCC 0.488000 CBFA2T3 863 broad.mit.edu 37 16 88945788 88945788 + Nonsense_Mutation SNP C C A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr16:88945788C>A uc002fmm.1 - 11 1738 c.1552G>T c.(1552-1554)GAG>TAG p.E518* CBFA2T3_uc002fml.1_Nonsense_Mutation_p.E432*|CBFA2T3_uc002fmk.1_Nonsense_Mutation_p.E17* NM_005187 NP_005178 O75081 MTG16_HUMAN myeloid translocation gene on chromosome 16 518 Potential. E -> K (in a colorectal cancer sample; somatic mutation). cell proliferation|granulocyte differentiation Golgi membrane|nucleolus|nucleoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.E518K(1) large_intestine(3)|ovary(1) 4 BRCA - Breast invasive adenocarcinoma(80;0.0275) GTGATGAGCTCGTGCGCTTTG 0.657000 T RUNX1 AML ANKFY1 51479 broad.mit.edu 37 17 4082326 4082326 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr17:4082326G>A uc002fxq.1 - 18 2462 c.2424C>T c.(2422-2424)CAC>CAT p.H808H ANKFY1_uc002fxn.2_Silent_p.H850H|ANKFY1_uc002fxo.2_Silent_p.H809H|ANKFY1_uc002fxp.2_Silent_p.H807H|ANKFY1_uc010ckp.2_Silent_p.H750H NM_016376 NP_057460 Q9P2R3 ANFY1_HUMAN ankyrin repeat and FYVE domain containing 1 808 ANK 14. endosome membrane metal ion binding|protein binding ovary(2)|skin(1) 3 TGATGGCCACGTGGATGGGGG 0.448000 MYBBP1A 10514 broad.mit.edu 37 17 4455891 4455891 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr17:4455891G>A uc002fyb.3 - 6 654 c.592C>T c.(592-594)CCG>TCG p.P198S MYBBP1A_uc002fxz.3_Missense_Mutation_p.P198S NM_014520 NP_055335 Q9BQG0 MBB1A_HUMAN MYB binding protein 1a isoform 2 198 Interaction with MYB (By similarity). nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NLS-dependent protein nuclear import complex|nucleolus DNA binding|DNA-directed DNA polymerase activity|transcription factor binding ovary(1)|skin(1) 2 AGGACCTCCGGCAGGATCTCC 0.552000 WSCD1 23302 broad.mit.edu 37 17 6023799 6023799 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr17:6023799C>T uc010cli.2 + 9 1925 c.1546C>T c.(1546-1548)CGG>TGG p.R516W WSCD1_uc002gcn.2_Missense_Mutation_p.R516W|WSCD1_uc002gco.2_Missense_Mutation_p.R516W|WSCD1_uc010clj.2_Missense_Mutation_p.R207W NM_015253 NP_056068 Q658N2 WSCD1_HUMAN WSC domain containing 1 516 integral to membrane sulfotransferase activity 0 GAGCGAGGAGCGGCTGCTCTG 0.657000 ASGR1 432 broad.mit.edu 37 17 7077112 7077112 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr17:7077112C>T uc002ges.3 - 9 1152 c.742G>A c.(742-744)GGG>AGG p.G248R ASGR1_uc010clx.1_3'UTR NM_001671 NP_001662 P07306 ASGR1_HUMAN asialoglycoprotein receptor 1 248 Extracellular (Probable).|C-type lectin. receptor-mediated endocytosis integral to plasma membrane asialoglycoprotein receptor activity|metal ion binding|sugar binding breast(1)|central_nervous_system(1) 2 CCTCCGAGCCCGTGGCCGTAC 0.697000 TP53 7157 broad.mit.edu 37 17 7577523 7577523 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr17:7577523G>A uc002gim.2 - 7 952 c.758C>T c.(757-759)ACC>ATC p.T253I TP53_uc002gig.1_Missense_Mutation_p.T253I|TP53_uc002gih.2_Missense_Mutation_p.T253I|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.T121I|TP53_uc010cng.1_Missense_Mutation_p.T121I|TP53_uc002gii.1_Missense_Mutation_p.T121I|TP53_uc010cnh.1_Missense_Mutation_p.T253I|TP53_uc010cni.1_Missense_Mutation_p.T253I|TP53_uc002gij.2_Missense_Mutation_p.T253I|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.T160I|TP53_uc002gio.2_Missense_Mutation_p.T121I NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 253 |Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). T -> A (in sporadic cancers; somatic mutation).|T -> S (in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation).|T -> N (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.0?(7)|p.T253S(5)|p.I251_T253delILT(4)|p.T253I(3)|p.T253P(3)|p.T253A(3)|p.L252_I254delLTI(3)|p.T253fs*91(2)|p.T253_I255del(2)|p.T253fs*11(2)|p.T253T(2)|p.L252_T253delLT(1)|p.?(1)|p.P250_T253delPILT(1)|p.T253del(1)|p.T253fs*92(1)|p.R249_T256delRPILTIIT(1)|p.I254fs*10(1)|p.T253N(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) TGTGATGATGGTGAGGATGGG 0.582000 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) DNAH2 146754 broad.mit.edu 37 17 7681676 7681676 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr17:7681676C>T uc002giu.1 + 34 5444 c.5430C>T c.(5428-5430)ACC>ACT p.T1810T NM_020877 NP_065928 Q9P225 DYH2_HUMAN dynein heavy chain domain 3 1810 AAA 1 (By similarity).|ATP (Potential). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(6)|skin(6)|central_nervous_system(1) 13 all_cancers(10;4.66e-07)|Prostate(122;0.081) CAGGCAAGACCGAGACCGTCA 0.572000 GUCY2D 3000 broad.mit.edu 37 17 7907470 7907470 + Missense_Mutation SNP A A C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr17:7907470A>C uc002gjt.2 + 3 1096 c.1022A>C c.(1021-1023)CAG>CCG p.Q341P NM_000180 NP_000171 Q02846 GUC2D_HUMAN guanylate cyclase 2D, membrane (retina-specific) 341 Extracellular (Potential). intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity skin(1) 1 Prostate(122;0.157) CTCAATCTGCAGCAGGTAGAC 0.632000 PER1 5187 broad.mit.edu 37 17 8053891 8053891 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr17:8053891G>A uc002gkd.2 - 2 372 c.134C>T c.(133-135)ACC>ATC p.T45I PER1_uc010vuq.1_RNA|PER1_uc010vur.1_Missense_Mutation_p.T29I|PER1_uc010vus.1_Missense_Mutation_p.T45I NM_002616 NP_002607 O15534 PER1_HUMAN period 1 45 circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity lung(2)|breast(2)|skin(2)|large_intestine(1)|ovary(1)|kidney(1) 9 GTTGGCATCGGTGTCATCGGC 0.647000 T ETV6 AML|CMML Other_conserved_DNA_damage_response_genes MYH13 8735 broad.mit.edu 37 17 10219039 10219039 + Missense_Mutation SNP G G T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr17:10219039G>T uc002gmk.1 - 29 4045 c.3955C>A c.(3955-3957)CTT>ATT p.L1319I NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN myosin, heavy polypeptide 13, skeletal muscle 1319 Potential. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|skin(2) 6 TGCCTCTTAAGCTCCTCCAGC 0.507000 TRPV2 51393 broad.mit.edu 37 17 16330184 16330184 + Missense_Mutation SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr17:16330184T>C uc002gpy.2 + 7 1611 c.1244T>C c.(1243-1245)CTG>CCG p.L415P TRPV2_uc002gpz.2_5'UTR NM_016113 NP_057197 Q9Y5S1 TRPV2_HUMAN transient receptor potential cation channel, 415 Extracellular (Potential). sensory perception integral to plasma membrane|melanosome calcium channel activity ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) CAGCCTACCCTGAAGAAGGCA 0.527000 TNFRSF13B 23495 broad.mit.edu 37 17 16843774 16843774 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr17:16843774G>A uc002gqs.1 - 4 510 c.497C>T c.(496-498)ACG>ATG p.T166M TNFRSF13B_uc010vwt.1_RNA|TNFRSF13B_uc002gqt.1_Missense_Mutation_p.T120M NM_012452 NP_036584 O14836 TR13B_HUMAN tumor necrosis factor receptor 13B 166 Helical; Signal-anchor for type III membrane protein; (Potential). cell surface receptor linked signaling pathway integral to plasma membrane protein binding|receptor activity kidney(2) 2 GAGCCCCAGCGTGCTGTAGAC 0.642000 IgA_Deficiency_Selective RAI1 10743 broad.mit.edu 37 17 17698668 17698668 + Missense_Mutation SNP G G T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr17:17698668G>T uc002grm.2 + 3 2875 c.2406G>T c.(2404-2406)AAG>AAT p.K802N RAI1_uc002grn.1_Missense_Mutation_p.K802N NM_030665 NP_109590 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 802 cytoplasm|nucleus zinc ion binding central_nervous_system(1)|skin(1) 2 READ - Rectum adenocarcinoma(1115;0.0276) CTGGGGAGAAGGTGGCCTCGT 0.672000 FLII 2314 broad.mit.edu 37 17 18152659 18152659 + Missense_Mutation SNP C C G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr17:18152659C>G uc002gsr.1 - 15 1891 c.1840G>C c.(1840-1842)GAC>CAC p.D614H FLII_uc002gsq.1_Missense_Mutation_p.D485H|FLII_uc010cpy.1_Missense_Mutation_p.D603H|FLII_uc010vxn.1_Missense_Mutation_p.D583H|FLII_uc010vxo.1_Missense_Mutation_p.D559H|FLII_uc002gss.1_Missense_Mutation_p.D613H NM_002018 NP_002009 Q13045 FLII_HUMAN flightless I homolog 614 Interaction with ACTL6A. multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleus actin binding central_nervous_system(1)|skin(1) 2 all_neural(463;0.228) TAGTGTGTGTCTTCCACAGTG 0.552000 RNF112 7732 broad.mit.edu 37 17 19318422 19318422 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr17:19318422G>A uc010vyw.1 + 11 1397 c.1198G>A c.(1198-1200)GCT>ACT p.A400T RNF112_uc010vyv.1_Missense_Mutation_p.A401T|RNF112_uc010vyx.1_Missense_Mutation_p.A283T NM_007148 NP_009079 Q7Z5V9 Q7Z5V9_HUMAN ring finger protein 112 400 GTP binding|GTPase activity|zinc ion binding ovary(2) 2 CCCCCAGCACGCTAAGAGCCG 0.632000 CYTSB 92521 broad.mit.edu 37 17 20109083 20109083 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr17:20109083C>T uc002gwq.2 + 4 1866 c.1721C>T c.(1720-1722)ACG>ATG p.T574M CYTSB_uc010cqx.2_Missense_Mutation_p.T574M|CYTSB_uc002gwr.2_Missense_Mutation_p.T574M|CYTSB_uc002gws.2_Missense_Mutation_p.T574M|CYTSB_uc002gwv.2_Missense_Mutation_p.T493M|CYTSB_uc010vzf.1_Intron|CYTSB_uc002gww.2_Missense_Mutation_p.T350M|CYTSB_uc002gwt.2_Missense_Mutation_p.T493M|CYTSB_uc002gwu.2_Missense_Mutation_p.T493M NM_001033553 NP_001028725 Q5M775 CYTSB_HUMAN spectrin domain with coiled-coils 1 NSP5b3b 574 nucleus 0 GTGGAGCAGACGGCAGAGAGC 0.463000 KCNJ12 3768 broad.mit.edu 37 17 21318767 21318767 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr17:21318767C>T uc002gyv.1 + 3 818 c.113C>T c.(112-114)ACG>ATG p.T38M NM_021012 NP_066292 Q14500 IRK12_HUMAN potassium inwardly-rectifying channel, subfamily 38 Cytoplasmic (By similarity). 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) AAGGTGCACACGCGGCGCAGG 0.622000 Prostate(3;0.18) SLC13A2 9058 broad.mit.edu 37 17 26822686 26822686 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr17:26822686C>T uc002hbh.2 + 10 1389 c.1322C>T c.(1321-1323)TCA>TTA p.S441L SLC13A2_uc010wam.1_Missense_Mutation_p.S397L|SLC13A2_uc010wan.1_Missense_Mutation_p.S490L|SLC13A2_uc010wao.1_Missense_Mutation_p.S398L|SLC13A2_uc002hbi.2_Missense_Mutation_p.S370L NM_003984 NP_003975 Q13183 S13A2_HUMAN solute carrier family 13, member 2 isoform b 441 integral to plasma membrane|membrane fraction low affinity sodium:dicarboxylate symporter activity 0 all_lung(13;0.000871)|Lung NSC(42;0.0027) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) Succinic acid(DB00139) TCGGGCCTGTCAGAGTGGCTG 0.622000 NEK8 284086 broad.mit.edu 37 17 27067543 27067543 + Nonsense_Mutation SNP G G T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr17:27067543G>T uc002hcp.2 + 11 1480 c.1480G>T c.(1480-1482)GGA>TGA p.G494* NM_178170 NP_835464 Q86SG6 NEK8_HUMAN NIMA-related kinase 8 494 RCC1 3. cytoplasm|primary cilium ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity stomach(2)|ovary(1)|pancreas(1)|liver(1)|skin(1) 6 Lung NSC(42;0.0158) CATGCCCCCAGGACAGGAAGC 0.557000 ABHD15 116236 broad.mit.edu 37 17 27893168 27893168 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr17:27893168C>T uc002hed.1 - 1 881 c.817G>A c.(817-819)GAG>AAG p.E273K TP53I13_uc002hee.2_5'Flank NM_198147 NP_937790 Q6UXT9 ABH15_HUMAN abhydrolase domain containing 15 precursor 273 extracellular region carboxylesterase activity 0 AGGCCGGCCTCGAACCACTCT 0.677000 ATAD5 79915 broad.mit.edu 37 17 29167732 29167732 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr17:29167732C>T uc002hfs.1 + 4 2520 c.2174C>T c.(2173-2175)GCG>GTG p.A725V ATAD5_uc002hft.1_Missense_Mutation_p.A622V NM_024857 NP_079133 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 725 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity ovary(3) 3 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) GAAGAAATAGCGATACCCTTA 0.343000 ATAD5 79915 broad.mit.edu 37 17 29220338 29220338 + Nonsense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr17:29220338G>A uc002hfs.1 + 21 4813 c.4467G>A c.(4465-4467)TGG>TGA p.W1489* NM_024857 NP_079133 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 1489 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity ovary(3) 3 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) AGGAAGAATGGCATAAATTCA 0.303000 RHBDL3 162494 broad.mit.edu 37 17 30615897 30615897 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr17:30615897G>A uc002hhe.1 + 4 395 c.381G>A c.(379-381)AAG>AAA p.K127K RHBDL3_uc010csw.1_Silent_p.K119K|RHBDL3_uc010csx.1_Silent_p.K127K|RHBDL3_uc010csy.1_Silent_p.K29K|RHBDL3_uc002hhf.1_Silent_p.K29K NM_138328 NP_612201 P58872 RHBL3_HUMAN rhomboid protease 3 127 proteolysis integral to membrane calcium ion binding|serine-type endopeptidase activity ovary(1) 1 Breast(31;0.116)|Ovarian(249;0.182) TGGAGGAGAAGGGGCTGAGCC 0.592000 ZNF207 7756 broad.mit.edu 37 17 30696741 30696741 + Missense_Mutation SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr17:30696741T>C uc002hhh.3 + 11 1548 c.1400T>C c.(1399-1401)ATG>ACG p.M467T ZNF207_uc002hhj.3_Missense_Mutation_p.M483T|ZNF207_uc002hhi.3_Missense_Mutation_p.M452T|ZNF207_uc010csz.2_Missense_Mutation_p.M486T|ZNF207_uc002hhk.1_Missense_Mutation_p.M483T|ZNF207_uc002hhl.1_RNA NM_003457 NP_003448 O43670 ZN207_HUMAN zinc finger protein 207 isoform a 467 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Breast(31;0.116)|Ovarian(249;0.182) BRCA - Breast invasive adenocarcinoma(9;0.239) CCGATGGGAATGAGACCTCCT 0.527000 FKBP10 60681 broad.mit.edu 37 17 39975526 39975526 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr17:39975526G>A uc002hxv.2 + 5 1117 c.792G>A c.(790-792)CCG>CCA p.P264P FKBP10_uc002hxw.1_5'UTR NM_021939 NP_068758 Q96AY3 FKB10_HUMAN FK506 binding protein 10 precursor 264 protein folding endoplasmic reticulum lumen|membrane calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity ovary(1) 1 Breast(137;0.00122) BRCA - Breast invasive adenocarcinoma(366;0.148) TGCACAACCCGAAGGACGCTG 0.612000 NAGLU 4669 broad.mit.edu 37 17 40690415 40690415 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr17:40690415C>T uc002hzv.2 + 3 930 c.590C>T c.(589-591)GCC>GTC p.A197V NM_000263 NP_000254 P54802 ANAG_HUMAN alpha-N-acetylglucosaminidase precursor 197 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) ACTGGTCCTGCCTTCCTGGCC 0.542000 BECN1 8678 broad.mit.edu 37 17 40966560 40966560 + Missense_Mutation SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr17:40966560A>G uc002ibo.3 - 9 1097 c.962T>C c.(961-963)ATG>ACG p.M321T BECN1_uc010whb.1_Missense_Mutation_p.M234T|BECN1_uc010whc.1_Missense_Mutation_p.M245T|BECN1_uc002ibn.2_Missense_Mutation_p.M321T NM_003766 NP_003757 Q14457 BECN1_HUMAN beclin 1 321 anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus membrane protein binding ovary(1) 1 Breast(137;0.00104) BRCA - Breast invasive adenocarcinoma(366;0.0745) TTTCAGACCCATCTTATTGGC 0.498000 TMEM106A 113277 broad.mit.edu 37 17 41368528 41368528 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr17:41368528G>A uc002idn.1 + 6 727 c.490G>A c.(490-492)GAG>AAG p.E164K TMEM106A_uc010why.1_Missense_Mutation_p.E116K|TMEM106A_uc010cze.1_Missense_Mutation_p.E164K|TMEM106A_uc010whz.1_Intron NM_145041 NP_659478 Q96A25 T106A_HUMAN transmembrane protein 106A 164 integral to membrane 0 Breast(137;0.0164) BRCA - Breast invasive adenocarcinoma(366;0.0917) GCTGACCCTCGAGGTTCTGCA 0.542000 MAPT 4137 broad.mit.edu 37 17 44101486 44101486 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr17:44101486C>T uc002ijr.3 + 14 2546 c.2226C>T c.(2224-2226)CTC>CTT p.L742L MAPT_uc010dau.2_Silent_p.L760L|MAPT_uc002ijs.3_Silent_p.L425L|MAPT_uc002ijx.3_Silent_p.L396L|MAPT_uc002ijt.3_Silent_p.L367L|MAPT_uc002iju.3_Silent_p.L336L|MAPT_uc002ijv.3_Silent_p.L343L NM_016835 NP_058519 P10636 TAU_HUMAN microtubule-associated protein tau isoform 1 742 cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton pancreas(1) 1 Melanoma(429;0.216) CGCCCCAGCTCGCCACGCTAG 0.597000 OR4D2 124538 broad.mit.edu 37 17 56247325 56247325 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr17:56247325C>T uc010wnp.1 + 1 309 c.309C>T c.(307-309)TTC>TTT p.F103F NM_001004707 NP_001004707 P58180 OR4D2_HUMAN olfactory receptor, family 4, subfamily D, 103 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 AGATCTTCTTCTTCCACTTTT 0.522000 HSF5 124535 broad.mit.edu 37 17 56557589 56557589 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr17:56557589C>T uc002iwi.1 - 2 714 c.590G>A c.(589-591)CGA>CAA p.R197Q NM_001080439 NP_001073908 Q4G112 HSF5_HUMAN heat shock transcription factor family member 5 197 By similarity. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|skin(1) 3 Medulloblastoma(34;0.127)|all_neural(34;0.237) CAAACTATCTCGACGAAATGA 0.428000 C17orf71 55181 broad.mit.edu 37 17 57290847 57290847 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr17:57290847C>T uc002ixi.2 + 3 2705 c.2663C>T c.(2662-2664)CCC>CTC p.P888L NM_018149 NP_060619 Q8ND04 SMG8_HUMAN SMG8 protein 888 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity protein binding 0 all_neural(34;0.0837)|Medulloblastoma(34;0.0922) AGTGACATGCCCTTATATATT 0.438000 SMARCD2 6603 broad.mit.edu 37 17 61911083 61911083 + Splice_Site SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr17:61911083C>T uc010deb.1 - 10 1499 c.1182_splice c.e10-1 p.S394_splice SMARCD2_uc010wpt.1_Splice_Site_p.S346_splice|SMARCD2_uc010dea.1_Splice_Site_p.S319_splice|SMARCD2_uc010dec.1_Splice_Site_p.S373_splice NM_001098426 NP_001091896 Q92925 SMRD2_HUMAN SWI/SNF-related matrix-associated chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent SWI/SNF complex protein binding|transcription coactivator activity 0 AGGGTCGACACTGCAGGCAGC 0.552000 SCN4A 6329 broad.mit.edu 37 17 62045681 62045681 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr17:62045681C>T uc002jds.1 - 6 815 c.738G>A c.(736-738)TCG>TCA p.S246S NM_000334 NP_000325 P35499 SCN4A_HUMAN voltage-gated sodium channel type 4 alpha 246 I. S -> L. muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(1)|pancreas(1)|skin(1) 3 Lamotrigine(DB00555) GCTTTTTCACCGACTGGATCA 0.592000 ERN1 2081 broad.mit.edu 37 17 62144207 62144207 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr17:62144207G>A uc002jdz.2 - 8 779 c.666C>T c.(664-666)TAC>TAT p.Y222Y NM_001433 NP_001424 O75460 ERN1_HUMAN endoplasmic reticulum to nucleus signalling 1 222 Lumenal (Potential). activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to endoplasmic reticulum membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(4)|lung(2)|stomach(1)|ovary(1)|kidney(1) 9 CAGGGGAGGCGTAGTTTTGGA 0.537000 ABCA9 10350 broad.mit.edu 37 17 67024767 67024767 + Silent SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr17:67024767A>G uc002jhu.2 - 12 1667 c.1524T>C c.(1522-1524)TAT>TAC p.Y508Y ABCA9_uc010dez.2_Silent_p.Y508Y NM_080283 NP_525022 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A, member 9 508 ABC transporter 1. transport integral to membrane ATP binding|ATPase activity ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1) 6 Breast(10;1.47e-12) TCTGGCCTTCATATATGTCAA 0.393000 ABCA5 23461 broad.mit.edu 37 17 67251897 67251897 + Missense_Mutation SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr17:67251897T>C uc002jif.2 - 29 5171 c.3953A>G c.(3952-3954)TAC>TGC p.Y1318C ABCA5_uc002jib.2_Missense_Mutation_p.Y284C|ABCA5_uc002jic.2_Missense_Mutation_p.Y541C|ABCA5_uc002jid.2_Missense_Mutation_p.Y235C|ABCA5_uc002jie.2_RNA|ABCA5_uc002jig.2_Missense_Mutation_p.Y1318C NM_018672 NP_061142 Q8WWZ7 ABCA5_HUMAN ATP-binding cassette, sub-family A , member 5 1318 ABC transporter 2. cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane ATP binding|ATPase activity ovary(2)|central_nervous_system(1)|skin(1) 4 Breast(10;3.72e-11) GAAAGAGATGTATTTAGTTGC 0.274000 ABCA5 23461 broad.mit.edu 37 17 67270228 67270228 + Missense_Mutation SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr17:67270228A>G uc002jif.2 - 19 3854 c.2636T>C c.(2635-2637)ATG>ACG p.M879T ABCA5_uc002jic.2_Missense_Mutation_p.M102T|ABCA5_uc002jid.2_5'UTR|ABCA5_uc002jie.2_RNA|ABCA5_uc002jig.2_Missense_Mutation_p.M879T|ABCA5_uc002jih.2_Missense_Mutation_p.M879T|ABCA5_uc010dfe.2_Missense_Mutation_p.M879T NM_018672 NP_061142 Q8WWZ7 ABCA5_HUMAN ATP-binding cassette, sub-family A , member 5 879 Helical; (Potential). cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane ATP binding|ATPase activity ovary(2)|central_nervous_system(1)|skin(1) 4 Breast(10;3.72e-11) AACCAAAAACATAAAAATCTG 0.308000 KCNJ16 3773 broad.mit.edu 37 17 68128892 68128892 + Missense_Mutation SNP C C T rs148765286 TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr17:68128892C>T uc002jin.2 + 5 1150 c.664C>T c.(664-666)CGC>TGC p.R222C KCNJ16_uc002jio.2_Missense_Mutation_p.R222C|KCNJ16_uc002jip.2_Missense_Mutation_p.R222C|KCNJ16_uc002jiq.2_Missense_Mutation_p.R254C NM_018658 NP_061128 Q9NPI9 IRK16_HUMAN potassium inwardly-rectifying channel J16 222 Cytoplasmic (By similarity). synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(10;2.96e-09) CCAACTTCTCCGCTATACAGA 0.468000 OTOP2 92736 broad.mit.edu 37 17 72926834 72926834 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr17:72926834C>T uc010wrp.1 + 7 1193 c.1104C>T c.(1102-1104)GAC>GAT p.D368D NM_178160 NP_835454 Q7RTS6 OTOP2_HUMAN otopetrin 2 368 integral to membrane ovary(3)|large_intestine(1) 4 all_lung(278;0.172)|Lung NSC(278;0.207) GCACTCTGGACGTGGCCCTGC 0.642000 EVPL 2125 broad.mit.edu 37 17 74003904 74003904 + Silent SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr17:74003904A>G uc002jqi.2 - 22 5610 c.5382T>C c.(5380-5382)TCT>TCC p.S1794S EVPL_uc010wss.1_Silent_p.S1816S|EVPL_uc010wst.1_Silent_p.S1264S NM_001988 NP_001979 Q92817 EVPL_HUMAN envoplakin 1794 Globular 2. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity pancreas(2)|central_nervous_system(1)|skin(1) 4 TGGAGATGATAGAGCCGATGG 0.602000 RPTOR 57521 broad.mit.edu 37 17 78867514 78867514 + Silent SNP C C T rs115028103 byFrequency TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr17:78867514C>T uc002jyt.1 + 20 3055 c.2250C>T c.(2248-2250)GGC>GGT p.G750G RPTOR_uc010wug.1_Silent_p.G592G NM_020761 NP_065812 Q8N122 RPTOR_HUMAN raptor isoform 1 750 cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade cytosol|lysosome|TORC1 complex protein complex binding lung(4)|urinary_tract(1)|ovary(1) 6 CAGCTGGTGGCGCGGTGGCGT 0.597000 AATK 9625 broad.mit.edu 37 17 79095065 79095065 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr17:79095065G>A uc010dia.2 - 11 2751 c.2671C>T c.(2671-2673)CGC>TGC p.R891C AATK_uc010dhz.2_RNA NM_001080395 NP_001073864 Q6ZMQ8 LMTK1_HUMAN apoptosis-associated tyrosine kinase 891 integral to membrane|mitochondrion|perinuclear region of cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity stomach(4)|ovary(2)|lung(2)|upper_aerodigestive_tract(1) 9 all_neural(118;0.101) BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524) TGCAGAGAGCGGAAGGCTGGC 0.662000 GPS1 2873 broad.mit.edu 37 17 80014952 80014952 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr17:80014952G>A uc002kdl.1 + 13 1470 c.1425G>A c.(1423-1425)CAG>CAA p.Q475Q GPS1_uc002kdk.1_Silent_p.Q511Q|GPS1_uc010dij.1_Silent_p.Q510Q|GPS1_uc002kdm.1_Silent_p.Q455Q|GPS1_uc002kdn.1_Silent_p.Q471Q|GPS1_uc002kdo.1_Silent_p.Q474Q|GPS1_uc010wvh.1_Silent_p.Q467Q NM_004127 NP_004118 Q13098 CSN1_HUMAN G protein pathway suppressor 1 isoform 2 475 cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade cytoplasm|signalosome GTPase inhibitor activity|protein binding central_nervous_system(1) 1 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211) AAGGGAGCCAGGGGGAGCTGA 0.677000 ELP2 55250 broad.mit.edu 37 18 33726216 33726216 + Nonsense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr18:33726216C>T uc002kzk.1 + 11 1007 c.997C>T c.(997-999)CGA>TGA p.R333* ELP2_uc010xcg.1_Nonsense_Mutation_p.R398*|ELP2_uc002kzl.1_RNA|ELP2_uc002kzm.1_Nonsense_Mutation_p.R307*|ELP2_uc010xch.1_Intron|ELP2_uc002kzn.1_Intron|ELP2_uc002kzo.1_Nonsense_Mutation_p.R263* NM_018255 NP_060725 Q6IA86 ELP2_HUMAN elongator protein 2 333 regulation of transcription from RNA polymerase II promoter Golgi apparatus|transcription elongation factor complex breast(2)|ovary(1)|skin(1) 4 TGTACAGGTTCGAGTAGGTGA 0.393000 KIAA1328 57536 broad.mit.edu 37 18 34753044 34753044 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr18:34753044G>A uc002kzz.2 + 9 1545 c.1523G>A c.(1522-1524)CGG>CAG p.R508Q KIAA1328_uc002lab.2_Missense_Mutation_p.R260H|KIAA1328_uc002lac.1_Missense_Mutation_p.R367Q|KIAA1328_uc010dnc.1_RNA NM_020776 NP_065827 Q86T90 K1328_HUMAN hypothetical protein LOC57536 508 central_nervous_system(1) 1 COAD - Colon adenocarcinoma(74;0.195) ACCACCTCCCGGTAAGCTTCA 0.388000 CELF4 56853 broad.mit.edu 37 18 35145354 35145354 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr18:35145354G>A uc002lae.2 - 1 647 c.251C>T c.(250-252)ACG>ATG p.T84M CELF4_uc010dnd.1_Missense_Mutation_p.T84M|CELF4_uc002lag.2_Missense_Mutation_p.T84M|CELF4_uc002laf.2_Missense_Mutation_p.T80M|CELF4_uc002lai.2_Missense_Mutation_p.T80M NM_020180 NP_064565 Q9BZC1 CELF4_HUMAN bruno-like 4, RNA binding protein isoform 1 84 RRM 1.|Sufficient for RNA-binding and MSE- dependent splicing activity. embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding ovary(2) 2 CTTCAGAACCGTAAGCTCGTA 0.587000 SETBP1 26040 broad.mit.edu 37 18 42531385 42531385 + Missense_Mutation SNP G G T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr18:42531385G>T uc010dni.2 + 4 2376 c.2080G>T c.(2080-2082)GCT>TCT p.A694S NM_015559 NP_056374 Q9Y6X0 SETBP_HUMAN SET binding protein 1 isoform a 694 nucleus DNA binding upper_aerodigestive_tract(2)|large_intestine(1) 3 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) GAAGGCAAAAGCTCCCCCAGA 0.478000 Schinzel-Giedion_syndrome WDR7 23335 broad.mit.edu 37 18 54446705 54446705 + Missense_Mutation SNP C C A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr18:54446705C>A uc002lgk.1 + 18 3202 c.2991C>A c.(2989-2991)GAC>GAA p.D997E WDR7_uc010dpk.1_RNA|WDR7_uc002lgl.1_Missense_Mutation_p.D964E NM_015285 NP_056100 Q9Y4E6 WDR7_HUMAN rabconnectin-3 beta isoform 1 997 ovary(2)|skin(1) 3 Lung(128;0.0238)|Colorectal(16;0.0296) TGCTGCCAGACCTACTGGGAT 0.423000 ZCCHC2 54877 broad.mit.edu 37 18 60241471 60241471 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr18:60241471G>A uc002lip.3 + 13 2157 c.2157G>A c.(2155-2157)ATG>ATA p.M719I ZCCHC2_uc002lio.2_RNA|ZCCHC2_uc002liq.2_Missense_Mutation_p.M189I NM_017742 NP_060212 Q9C0B9 ZCHC2_HUMAN zinc finger, CCHC domain containing 2 719 cell communication cytoplasm nucleic acid binding|phosphatidylinositol binding|zinc ion binding lung(1)|prostate(1) 2 TTTCTTTTATGCCAACGTTAC 0.443000 SERPINB8 5271 broad.mit.edu 37 18 61654276 61654276 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr18:61654276G>A uc002ljv.2 + 7 1058 c.889G>A c.(889-891)GCA>ACA p.A297T SERPINB8_uc002lju.2_Missense_Mutation_p.A297T|SERPINB8_uc010xex.1_Missense_Mutation_p.A115T NM_198833 NP_942130 P50452 SPB8_HUMAN serine (or cysteine) proteinase inhibitor, clade 297 regulation of proteolysis cytosol protein binding|serine-type endopeptidase inhibitor activity skin(1) 1 Esophageal squamous(42;0.129) CGAAGCCAAGGCAGACTTTTC 0.488000 TSHZ1 10194 broad.mit.edu 37 18 73000281 73000281 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr18:73000281C>T uc002lly.2 + 2 3347 c.2784C>T c.(2782-2784)AAC>AAT p.N928N NM_005786 NP_005777 Q6ZSZ6 TSH1_HUMAN teashirt family zinc finger 1 973 C2H2-type 4. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211) Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246) TCTTTTGCAACGATTGTGCCT 0.488000 ADNP2 22850 broad.mit.edu 37 18 77893766 77893766 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr18:77893766G>A uc002lnw.2 + 4 925 c.470G>A c.(469-471)TGT>TAT p.C157Y NM_014913 NP_055728 Q6IQ32 ADNP2_HUMAN ADNP homeobox 2 157 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) AGTTTCACATGTCTAAAATGT 0.378000 CDC34 997 broad.mit.edu 37 19 537097 537097 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr19:537097G>A uc002lov.2 + 4 646 c.447G>A c.(445-447)AGG>AGA p.R149R NM_004359 NP_004350 P49427 UB2R1_HUMAN ubiquitin-conjugating enzyme Cdc34 149 R->A: Inhibits polyubiquitination of NFKBIA; when associated with A-147; A- 147; A-150 and A-153. DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|negative regulation of cAMP-mediated signaling|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination cytoplasm|nucleus ATP binding|protein binding|ubiquitin-protein ligase activity 0 all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) 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) TGATGTACAGGAAGTGGAAAG 0.617000 APC2 10297 broad.mit.edu 37 19 1460308 1460308 + Missense_Mutation SNP G G A rs150518571 by1000genomes TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr19:1460308G>A uc002lsr.1 + 11 1640 c.1432G>A c.(1432-1434)GTT>ATT p.V478I APC2_uc002lss.1_Missense_Mutation_p.V60I|APC2_uc002lst.1_Missense_Mutation_p.V478I|APC2_uc002lsu.1_Missense_Mutation_p.V477I|uc002lsv.2_5'Flank NM_005883 NP_005874 O95996 APC2_HUMAN adenomatosis polyposis coli 2 478 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm beta-catenin binding|microtubule binding breast(3)|pancreas(1) 4 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) CTTTGGGGACGTTGCCAACAA 0.562000 APC2 10297 broad.mit.edu 37 19 1466430 1466430 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr19:1466430G>A uc002lsr.1 + 15 3338 c.3130G>A c.(3130-3132)GCG>ACG p.A1044T APC2_uc002lss.1_Missense_Mutation_p.A626T|APC2_uc002lst.1_Missense_Mutation_p.A1044T|APC2_uc002lsu.1_Missense_Mutation_p.A1043T|C19orf25_uc010xgn.1_Intron NM_005883 NP_005874 O95996 APC2_HUMAN adenomatosis polyposis coli 2 1044 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm beta-catenin binding|microtubule binding breast(3)|pancreas(1) 4 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) CGAGAAGCTGGCGGCTGCCCC 0.692000 TCF3 6929 broad.mit.edu 37 19 1615385 1615385 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr19:1615385C>T uc002ltr.2 - 18 1788 c.1721G>A c.(1720-1722)CGC>CAC p.R574H TCF3_uc002ltn.2_Intron|TCF3_uc002lto.2_Missense_Mutation_p.R335H|TCF3_uc002ltt.3_Intron|TCF3_uc002ltq.2_Missense_Mutation_p.R578H|TCF3_uc002lts.1_Intron NM_003200 NP_003191 P15923 TFE2_HUMAN transcription factor 3 isoform E12 574 Helix-loop-helix motif. B cell lineage commitment|B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus|protein complex|transcription factor complex bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding lung(2)|breast(2)|ovary(1)|large_intestine(1)|skin(1) 7 Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07) 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) TTGGCACATGCGCCCCAGCTC 0.627000 T PBX1|HLF|TFPT pre B-ALL SLC39A3 29985 broad.mit.edu 37 19 2733057 2733057 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr19:2733057C>T uc002lwg.2 - 3 891 c.637G>A c.(637-639)GTG>ATG p.V213M SLC39A3_uc010xgy.1_Missense_Mutation_p.V213M NM_144564 NP_653165 Q9BRY0 S39A3_HUMAN solute carrier family 39 (zinc transporter), 213 Helical; (Potential). integral to membrane|plasma membrane zinc ion transmembrane transporter activity 0 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) CCCAGGGCCACGGCCACCAGT 0.697000 GIPC3 126326 broad.mit.edu 37 19 3589552 3589552 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr19:3589552C>T uc002lyd.3 + 4 731 c.704C>T c.(703-705)GCG>GTG p.A235V NM_133261 NP_573568 Q8TF64 GIPC3_HUMAN GIPC PDZ domain containing family, member 3 235 breast(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18) gtggaggaagcggtgagtgaa 0.279000 TMIGD2 126259 broad.mit.edu 37 19 4292666 4292666 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr19:4292666C>T uc002lzx.1 - 5 825 c.779G>A c.(778-780)AGG>AAG p.R260K TMIGD2_uc010dtv.1_Missense_Mutation_p.R256K NM_144615 NP_653216 Q96BF3 TMIG2_HUMAN transmembrane and immunoglobulin domain 260 Pro-rich.|Cytoplasmic (Potential). integral to membrane 0 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18) AGGAGAGACCCTGACCATAGA 0.507000 SEMA6B 10501 broad.mit.edu 37 19 4557220 4557220 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr19:4557220G>A uc010duc.1 - 3 299 c.261C>T c.(259-261)CGC>CGT p.R87R SEMA6B_uc010dud.2_Silent_p.R87R|SEMA6B_uc010xih.1_Silent_p.R87R NM_032108 NP_115484 Q9H3T3 SEM6B_HUMAN semaphorin 6B precursor 87 Extracellular (Potential).|Sema. cell differentiation|nervous system development integral to membrane receptor activity skin(1) 1 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18) CCAGCTCTACGCGGTAGAGGT 0.662000 PRR22 163154 broad.mit.edu 37 19 5783938 5783938 + Missense_Mutation SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr19:5783938A>G uc002mdb.1 - 1 673 c.314T>C c.(313-315)GTC>GCC p.V105A PRR22_uc010xiv.1_Missense_Mutation_p.V107A NM_153359 NP_699190 Q8IZ63 PRR22_HUMAN proline rich 22 isoform 2 105 Pro-rich. 0 GGCGGAGGGGACCCCCGCTGG 0.701000 TUBB4 10382 broad.mit.edu 37 19 6496189 6496189 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr19:6496189C>T uc002mfg.1 - 4 428 c.321G>A c.(319-321)ACG>ACA p.T107T TUBB4_uc002mff.1_Silent_p.T35T NM_006087 NP_006078 P04350 TBB4_HUMAN tubulin, beta 4 107 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization cytosol|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity ovary(2) 2 Hepatocellular(1079;0.00213)|Renal(1328;0.0183) Lung(535;3.23e-05)|STAD - Stomach adenocarcinoma(1328;8.24e-05)|GBM - Glioblastoma multiforme(1328;0.00839)|READ - Rectum adenocarcinoma(264;0.155) CTGCGCCCTCCGTGTAGTGCC 0.647000 SNAPC2 6618 broad.mit.edu 37 19 7987008 7987008 + Missense_Mutation SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr19:7987008T>C uc002miw.1 + 4 484 c.461T>C c.(460-462)CTG>CCG p.L154P SNAPC2_uc002mix.1_RNA NM_003083 NP_003074 Q13487 SNPC2_HUMAN small nuclear RNA activating complex, 154 snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter nucleoplasm sequence-specific DNA binding transcription factor activity 0 CCTTTGCTCCTGAGCGCCCCT 0.672000 LASS4 79603 broad.mit.edu 37 19 8326868 8326868 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr19:8326868G>A uc002mjg.2 + 12 1380 c.1060G>A c.(1060-1062)GCG>ACG p.A354T LASS4_uc002mjh.2_Missense_Mutation_p.A303T|LASS4_uc002mji.2_Missense_Mutation_p.A190T|LASS4_uc010dvz.2_Missense_Mutation_p.A266T NM_024552 NP_078828 Q9HA82 CERS4_HUMAN LAG1 homolog, ceramide synthase 4 354 endoplasmic reticulum membrane|integral to membrane|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity ovary(1) 1 TGAGGAGGCGGCGGCGGCCCA 0.637000 MUC16 94025 broad.mit.edu 37 19 9067365 9067365 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr19:9067365G>A uc002mkp.2 - 3 20285 c.20081C>T c.(20080-20082)GCC>GTC p.A6694V NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 6696 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 TCTAGAAGAGGCAACTTCTGT 0.522000 ZNF560 147741 broad.mit.edu 37 19 9578460 9578460 + Missense_Mutation SNP G G A rs146030501 byFrequency TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr19:9578460G>A uc002mlp.1 - 10 1373 c.1163C>T c.(1162-1164)CCG>CTG p.P388L ZNF560_uc010dwr.1_Missense_Mutation_p.P282L NM_152476 NP_689689 Q96MR9 ZN560_HUMAN zinc finger protein 560 388 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2)|ovary(1)|large_intestine(1)|pancreas(1)|liver(1) 6 AAAGCCTGACGGCACAGTGAA 0.423000 COL5A3 50509 broad.mit.edu 37 19 10081693 10081693 + Silent SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr19:10081693A>G uc002mmq.1 - 53 3926 c.3840T>C c.(3838-3840)GGT>GGC p.G1280G NM_015719 NP_056534 P25940 CO5A3_HUMAN collagen, type V, alpha 3 preproprotein 1280 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent ovary(7)|lung(1)|central_nervous_system(1)|skin(1) 10 Epithelial(33;7.11e-05) CCCCTGGGGAACCATCTATGC 0.577000 CDKN2D 1032 broad.mit.edu 37 19 10677827 10677827 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr19:10677827G>A uc002mpa.2 - 2 710 c.408C>T c.(406-408)GAC>GAT p.D136D KRI1_uc002mox.1_5'Flank|KRI1_uc002moy.1_5'Flank|CDKN2D_uc002mpb.2_Silent_p.D136D NM_001800 NP_001791 P55273 CDN2D_HUMAN cyclin-dependent kinase inhibitor 2D 136 anti-apoptosis|autophagic cell death|cell cycle arrest|DNA synthesis involved in DNA repair|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|negative regulation of caspase activity|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|response to retinoic acid|response to UV|response to vitamin D cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|protein kinase binding 0 Epithelial(33;1.58e-05)|all cancers(31;6.36e-05) GACCCCTGGCGTCCCTGCGAT 0.617000 Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System BEST2 54831 broad.mit.edu 37 19 12866954 12866954 + Splice_Site SNP G G T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr19:12866954G>T uc002mux.2 + 8 949 c.949_splice c.e8-1 p.V317_splice NM_017682 NP_060152 Q8NFU1 BEST2_HUMAN vitelliform macular dystrophy 2-like 1 membrane depolarization|sensory perception of smell chloride channel complex|cilium|plasma membrane chloride channel activity ovary(1)|pancreas(1) 2 TGCACCCGTAGGTGTCCATGC 0.632000 HOOK2 29911 broad.mit.edu 37 19 12874211 12874211 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr19:12874211C>T uc002muy.2 - 23 2216 c.2045G>A c.(2044-2046)CGG>CAG p.R682Q HOOK2_uc010xmq.1_Missense_Mutation_p.R87Q|HOOK2_uc002muz.2_Missense_Mutation_p.R680Q NM_013312 NP_037444 Q96ED9 HOOK2_HUMAN hook homolog 2 isoform 1 682 Sufficient for interaction with CEP110.|Required for localization to the centrosome and induction of aggresome formation. early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport centrosome|FHF complex|microtubule identical protein binding|microtubule binding ovary(1)|breast(1)|skin(1) 3 GGCAGGCGCCCGCTCCTCCCC 0.642000 CALR3 125972 broad.mit.edu 37 19 16593516 16593516 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr19:16593516C>T uc002ned.2 - 6 822 c.759G>A c.(757-759)GCG>GCA p.A253A MED26_uc002nee.2_RNA NM_145046 NP_659483 Q96L12 CALR3_HUMAN calreticulin 3 precursor 253 3 X approximate repeats.|P-domain.|2-1. protein folding endoplasmic reticulum lumen calcium ion binding|sugar binding|unfolded protein binding 0 GGAGCATCGGCGCTGGCCAGT 0.597000 ZNF536 9745 broad.mit.edu 37 19 30935847 30935847 + Missense_Mutation SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr19:30935847A>G uc002nsu.1 + 2 1516 c.1378A>G c.(1378-1380)ATG>GTG p.M460V ZNF536_uc010edd.1_Missense_Mutation_p.M460V NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 460 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) CGAGCTGCCCATGAAGGAGAA 0.642000 CHST8 64377 broad.mit.edu 37 19 34263386 34263386 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr19:34263386C>T uc002nus.3 + 5 1198 c.693C>T c.(691-693)AGC>AGT p.S231S CHST8_uc002nut.3_Silent_p.S231S|CHST8_uc002nuu.2_Silent_p.S231S NM_001127895 NP_001121367 Q9H2A9 CHST8_HUMAN carbohydrate (N-acetylgalactosamine 4-0) 231 Lumenal (Potential). carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity skin(2)|large_intestine(1)|ovary(1) 4 Esophageal squamous(110;0.162) ACTATGGCAGCGCTCTCAAGC 0.632000 KIAA0355 9710 broad.mit.edu 37 19 34832706 34832706 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr19:34832706C>T uc002nvd.3 + 10 2726 c.1867C>T c.(1867-1869)CGT>TGT p.R623C NM_014686 NP_055501 O15063 K0355_HUMAN hypothetical protein LOC9710 623 ovary(1) 1 Esophageal squamous(110;0.162) CATGGAGAGGCGTGAGAACTT 0.458000 CD22 933 broad.mit.edu 37 19 35831914 35831914 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr19:35831914C>T uc010edt.2 + 7 1457 c.1380C>T c.(1378-1380)GGC>GGT p.G460G CD22_uc010xst.1_Silent_p.G288G|CD22_uc010edu.2_Silent_p.G372G|CD22_uc010edv.2_Silent_p.G460G|CD22_uc002nzb.3_Silent_p.G283G|CD22_uc010edx.2_RNA NM_001771 NP_001762 P20273 CD22_HUMAN CD22 molecule precursor 460 Extracellular (Potential).|Ig-like C2-type 4. cell adhesion protein binding|sugar binding ovary(5)|lung(3)|breast(1) 9 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) OspA lipoprotein(DB00045) AACCCCATGGCGCCTGGGAGG 0.537000 KRTDAP 388533 broad.mit.edu 37 19 35979569 35979569 + Nonsense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr19:35979569G>A uc002nzh.2 - 3 175 c.163C>T c.(163-165)CGA>TGA p.R55* NM_207392 NP_997275 P60985 KTDAP_HUMAN keratinocyte differentiation-associated protein 55 cell differentiation extracellular region 0 all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) CTCACAGATCGCAATTTGTCG 0.507000 ZNF566 84924 broad.mit.edu 37 19 36940763 36940763 + Missense_Mutation SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr19:36940763T>C uc002oea.3 - 5 455 c.373A>G c.(373-375)AAT>GAT p.N125D ZNF566_uc010xte.1_Missense_Mutation_p.N125D|ZNF566_uc010xtf.1_Missense_Mutation_p.N126D|ZNF566_uc002oeb.3_Missense_Mutation_p.N125D|ZNF566_uc002oec.3_Missense_Mutation_p.N21D|ZNF566_uc010xtg.1_Missense_Mutation_p.N21D NM_032838 NP_116227 Q969W8 ZN566_HUMAN zinc finger protein 566 isoform 1 125 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(110;0.162) AACTGCCGATTACATTCCCAA 0.403000 HKR1 284459 broad.mit.edu 37 19 37854373 37854373 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr19:37854373G>A uc002ogb.2 + 6 1945 c.1676G>A c.(1675-1677)GGC>GAC p.G559D HKR1_uc002ofx.2_Missense_Mutation_p.G275D|HKR1_uc002ofy.2_Missense_Mutation_p.G275D|HKR1_uc002oga.2_Missense_Mutation_p.G541D|HKR1_uc010xto.1_Missense_Mutation_p.G541D|HKR1_uc002ogc.2_Missense_Mutation_p.G540D|HKR1_uc010xtp.1_Missense_Mutation_p.G498D|HKR1_uc002ogd.2_Missense_Mutation_p.G498D NM_181786 NP_861451 P10072 HKR1_HUMAN GLI-Kruppel family member HKR1 559 C2H2-type 10. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) AGGGAGTGTGGCAGAAGGTTT 0.502000 GGN 199720 broad.mit.edu 37 19 38876233 38876233 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr19:38876233G>A uc002oij.1 - 3 1804 c.1669C>T c.(1669-1671)CCT>TCT p.P557S GGN_uc002oik.1_Intron|GGN_uc010efy.1_Intron NM_152657 NP_689870 Q86UU5 GGN_HUMAN gametogenetin 557 Interactions with ZNF403/GGNBP2 and OAZ3 (By similarity). cell differentiation|multicellular organismal development|spermatogenesis 0 all_cancers(60;3.4e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) CTGCTGTCAGGCACGGTAGCT 0.672000 ZNF780B 163131 broad.mit.edu 37 19 40540359 40540359 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr19:40540359C>T uc002omu.2 - 5 2472 c.2407G>A c.(2407-2409)GTA>ATA p.V803I ZNF780B_uc002omv.2_Missense_Mutation_p.V655I NM_001005851 NP_001005851 Q9Y6R6 Z780B_HUMAN zinc finger protein 780B 803 C2H2-type 23; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) CTCACCTGTACAAGTTTTTGA 0.403000 AKT2 208 broad.mit.edu 37 19 40762934 40762934 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr19:40762934C>T uc002onf.2 - 3 336 c.74G>A c.(73-75)CGG>CAG p.R25Q AKT2_uc010egs.2_Missense_Mutation_p.R25Q|AKT2_uc010egt.2_5'UTR|AKT2_uc010xvj.1_5'UTR|AKT2_uc010egu.1_5'UTR|AKT2_uc010xvk.1_Missense_Mutation_p.R25Q NM_001626 NP_001617 P31751 AKT2_HUMAN AKT2 kinase 25 PH. insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process cytosol|nucleus ATP binding|protein binding|protein serine/threonine kinase activity lung(2) 2 Lung(22;0.000499) CAGGAAGTACCGTGGCCTCCA 0.562000 A ovarian|pancreatic PRX 57716 broad.mit.edu 37 19 40900690 40900690 + Missense_Mutation SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr19:40900690A>G uc002onr.2 - 7 3838 c.3569T>C c.(3568-3570)GTG>GCG p.V1190A PRX_uc002onq.2_Missense_Mutation_p.V1051A|PRX_uc002ons.2_3'UTR NM_181882 NP_870998 Q9BXM0 PRAX_HUMAN periaxin isoform 2 1190 Glu-rich (acidic). axon ensheathment cytoplasm|nucleus|plasma membrane protein binding ovary(2) 2 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) AGACAGGGTCACCTGGGGCAC 0.632000 PSG2 5670 broad.mit.edu 37 19 43579693 43579693 + Silent SNP C C T rs146429644 TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr19:43579693C>T uc002ovr.2 - 3 615 c.522G>A c.(520-522)CCG>CCA p.P174P PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG2_uc002ovq.3_Silent_p.P174P|PSG2_uc010eiq.1_Silent_p.P174P|PSG2_uc002ovs.3_Silent_p.P174P|PSG2_uc002ovt.3_Silent_p.P174P NM_031246 NP_112536 P11465 PSG2_HUMAN pregnancy specific beta-1-glycoprotein 2 174 Ig-like C2-type 1. cell migration|female pregnancy extracellular region 0 Prostate(69;0.00682) AGCTTGTGTCCGGAGTCTCAG 0.517000 IRGQ 126298 broad.mit.edu 37 19 44097037 44097037 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr19:44097037G>A uc002oww.2 - 2 1131 c.1013C>T c.(1012-1014)CCG>CTG p.P338L IRGQ_uc010eiv.2_Missense_Mutation_p.P338L NM_001007561 NP_001007562 Q8WZA9 IRGQ_HUMAN immunity-related GTPase family, Q 338 protein binding ovary(1)|pancreas(1) 2 Prostate(69;0.0199) CAGACACTCCGGATCCTCGCC 0.617000 RSPH6A 81492 broad.mit.edu 37 19 46313976 46313976 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr19:46313976G>A uc002pdm.2 - 2 916 c.773C>T c.(772-774)ACG>ATG p.T258M RSPH6A_uc002pdl.2_Translation_Start_Site NM_030785 NP_110412 Q9H0K4 RSH6A_HUMAN radial spokehead-like 1 258 intracellular ovary(1)|central_nervous_system(1) 2 GTCCCGCAGCGTGTCCAGCTT 0.627000 PNMAL2 57469 broad.mit.edu 37 19 46997563 46997563 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr19:46997563C>T uc002pes.2 - 1 1607 c.1160G>A c.(1159-1161)CGC>CAC p.R387H uc002peu.1_5'Flank NM_020709 NP_065760 Q9ULN7 PNML2_HUMAN PNMA-like 2 387 central_nervous_system(1) 1 Ovarian(192;0.00965)|all_neural(266;0.0459) OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427) CACCTTCACGCGGGTCCCGTT 0.647000 LIG1 3978 broad.mit.edu 37 19 48646810 48646810 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr19:48646810C>T uc002pia.1 - 11 1024 c.904G>A c.(904-906)GTG>ATG p.V302M LIG1_uc010xze.1_Translation_Start_Site|LIG1_uc002phz.1_RNA|LIG1_uc002pib.1_RNA|LIG1_uc010xzf.1_Missense_Mutation_p.V234M|LIG1_uc010xzg.1_Missense_Mutation_p.V271M|LIG1_uc010xzh.1_RNA NM_000234 NP_000225 P18858 DNLI1_HUMAN DNA ligase I 302 anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding large_intestine(2)|lung(1) 3 all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329) Bleomycin(DB00290) CGAGCAGACACCTCCTCGATC 0.587000 NER GRIN2D 2906 broad.mit.edu 37 19 48919394 48919394 + Missense_Mutation SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr19:48919394T>C uc002pjc.3 + 7 1805 c.1717T>C c.(1717-1719)TCC>CCC p.S573P NM_000836 NP_000827 O15399 NMDE4_HUMAN N-methyl-D-aspartate receptor subunit 2D 573 Extracellular (Potential). cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|protein binding ovary(3)|breast(3) 6 all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161) L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173) TGGCACGGTGTCCCCCTCGGC 0.577000 TULP2 7288 broad.mit.edu 37 19 49391323 49391323 + Missense_Mutation SNP G G A rs17847566 TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr19:49391323G>A uc002pkz.2 - 8 983 c.832C>T c.(832-834)CGG>TGG p.R278W NM_003323 NP_003314 O00295 TULP2_HUMAN tubby like protein 2 278 visual perception cytoplasm|extracellular region ovary(1)|kidney(1)|skin(1) 3 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234) AGCGCTGGCCGCAGCACGTAG 0.642000 PPFIA3 8541 broad.mit.edu 37 19 49632105 49632105 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr19:49632105C>T uc002pmr.2 + 4 675 c.343C>T c.(343-345)CTG>TTG p.L115L PPFIA3_uc010yai.1_RNA|PPFIA3_uc010emt.2_Silent_p.L39L|PPFIA3_uc010yaj.1_RNA|PPFIA3_uc002pms.2_5'UTR NM_003660 NP_003651 O75145 LIPA3_HUMAN PTPRF interacting protein alpha 3 115 Potential. 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) GTGCTTGCAGCTGCTCCTGGA 0.602000 TEAD2 8463 broad.mit.edu 37 19 49863251 49863251 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr19:49863251C>T uc002pnj.2 - 2 173 c.82G>A c.(82-84)GGC>AGC p.G28S TEAD2_uc002png.2_Missense_Mutation_p.G28S|TEAD2_uc002pnh.2_Missense_Mutation_p.G28S|TEAD2_uc002pni.2_Missense_Mutation_p.G28S|TEAD2_uc010yao.1_Intron|TEAD2_uc010emw.2_Missense_Mutation_p.G28S NM_003598 NP_003589 Q15562 TEAD2_HUMAN TEA domain family member 2 28 hippo signaling cascade DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|ovary(1) 3 all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467) TCACTGCCGCCGGTACCCTCC 0.697000 SLC17A7 57030 broad.mit.edu 37 19 49934335 49934335 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr19:49934335G>A uc002pnp.2 - 11 1498 c.1326C>T c.(1324-1326)AAC>AAT p.N442N SLC17A7_uc002pno.2_Silent_p.N104N NM_020309 NP_064705 Q9P2U7 VGLU1_HUMAN solute carrier family 17, member 7 442 Helical; (Potential). glutamate secretion|neurotransmitter secretion cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity ovary(1)|pancreas(1)|skin(1) 3 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245) TGCCCACGCCGTTGGAGATGC 0.622000 TSKS 60385 broad.mit.edu 37 19 50250722 50250722 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr19:50250722C>T uc002ppm.2 - 5 598 c.587G>A c.(586-588)TGC>TAC p.C196Y NM_021733 NP_068379 Q9UJT2 TSKS_HUMAN testis-specific kinase substrate 196 protein binding large_intestine(1)|skin(1) 2 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145) CACCTTCCAGCAGTTCTCCTG 0.582000 C19orf41 126123 broad.mit.edu 37 19 50666287 50666287 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr19:50666287G>A uc002prp.1 - 1 252 c.165C>T c.(163-165)GCC>GCT p.A55A NM_152358 NP_689571 Q6UXV1 IZUM2_HUMAN hypothetical protein LOC126123 precursor 55 Extracellular (Potential). integral to membrane 0 all_neural(266;0.0459)|Ovarian(192;0.0728) GBM - Glioblastoma multiforme(134;0.00364)|OV - Ovarian serous cystadenocarcinoma(262;0.0052) CCATCAGCACGGCCCCGGCGC 0.667000 C19orf63 284361 broad.mit.edu 37 19 50983973 50983973 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr19:50983973C>T uc002psl.2 + 5 604 c.538C>T c.(538-540)CTG>TTG p.L180L C19orf63_uc002psj.2_Silent_p.L180L|C19orf63_uc002psk.2_Silent_p.L180L NM_206538 NP_996261 Q5UCC4 INM02_HUMAN hematopoietic signal peptide-containing isoform 180 Extracellular (Potential). extracellular region|integral to membrane 0 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00733)|GBM - Glioblastoma multiforme(134;0.0252) GGACCTGGAGCTGTTCAACAC 0.711000 SYT3 84258 broad.mit.edu 37 19 51140615 51140615 + Silent SNP C C T rs143593640 TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr19:51140615C>T uc002pst.2 - 1 688 c.54G>A c.(52-54)TCG>TCA p.S18S SYT3_uc002psv.2_Silent_p.S18S|SYT3_uc010ycd.1_Silent_p.S18S NM_032298 NP_115674 Q9BQG1 SYT3_HUMAN synaptotagmin III 18 Vesicular (Potential). cell junction|endosome|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity ovary(2)|breast(1) 3 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188) CACAGAGGTCCGAGACCAGGA 0.632000 CLEC11A 6320 broad.mit.edu 37 19 51228606 51228606 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr19:51228606C>T uc002psy.2 + 4 1032 c.854C>T c.(853-855)CCG>CTG p.P285L NM_002975 NP_002966 Q9Y240 CLC11_HUMAN stem cell growth factor precursor 285 C-type lectin. positive regulation of cell proliferation cytoplasm|extracellular region growth factor activity|sugar binding ovary(1) 1 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) CCGCTCAGCCCGGACCAGCCC 0.701000 SIGLEC10 89790 broad.mit.edu 37 19 51914462 51914462 + Missense_Mutation SNP T T A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr19:51914462T>A uc002pwo.2 - 11 2601 c.1985A>T c.(1984-1986)CAA>CTA p.Q662L SIGLEC10_uc002pwp.2_Missense_Mutation_p.Q604L|SIGLEC10_uc002pwq.2_Missense_Mutation_p.Q509L|SIGLEC10_uc002pwr.2_Missense_Mutation_p.Q567L|SIGLEC10_uc010ycy.1_Missense_Mutation_p.Q477L|SIGLEC10_uc010ycz.1_Missense_Mutation_p.Q519L|SIGLEC10_uc010eow.2_Missense_Mutation_p.Q379L NM_033130 NP_149121 Q96LC7 SIG10_HUMAN sialic acid binding Ig-like lectin 10 precursor 662 Cytoplasmic (Potential). cell adhesion extracellular region|integral to membrane|plasma membrane sugar binding skin(1) 1 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101) GAGCTCCTCTTGGCTCTCCTG 0.557000 SIGLEC12 89858 broad.mit.edu 37 19 51994931 51994931 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr19:51994931G>A uc002pwx.1 - 8 1808 c.1752C>T c.(1750-1752)ATC>ATT p.I584I SIGLEC12_uc002pww.1_Silent_p.I466I|SIGLEC12_uc010eoy.1_Silent_p.I311I NM_053003 NP_443729 Q96PQ1 SIG12_HUMAN sialic acid binding immunoglobulin-like 584 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) ACTCATAGCCGATGGCCTCCT 0.582000 SIGLEC12 89858 broad.mit.edu 37 19 52002839 52002839 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr19:52002839C>T uc002pwx.1 - 3 996 c.940G>A c.(940-942)GTG>ATG p.V314M SIGLEC12_uc002pww.1_Missense_Mutation_p.V196M|SIGLEC12_uc010eoy.1_Missense_Mutation_p.V41M NM_053003 NP_443729 Q96PQ1 SIG12_HUMAN sialic acid binding immunoglobulin-like 314 Ig-like C2-type 1.|Extracellular (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) AGGGAGGACACGGAGGCCCCC 0.667000 ZNF808 388558 broad.mit.edu 37 19 53058467 53058467 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr19:53058467C>T uc010epq.1 + 5 2475 c.2298C>T c.(2296-2298)AAC>AAT p.N766N ZNF808_uc002pzq.2_RNA|ZNF808_uc010epr.1_5'Flank NM_001039886 NP_001034975 Q8N4W9 ZN808_HUMAN zinc finger protein 808 766 C2H2-type 20. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213) ACAAGTGTAACGACTGTGGCA 0.443000 ZNF320 162967 broad.mit.edu 37 19 53384108 53384108 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr19:53384108C>T uc002qag.2 - 4 1462 c.1271G>A c.(1270-1272)CGC>CAC p.R424H ZNF320_uc010eqh.1_5'Flank|ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.2_Missense_Mutation_p.R370H|ZNF320_uc002qai.2_Missense_Mutation_p.R424H NM_207333 NP_997216 A2RRD8 ZN320_HUMAN zinc finger protein 320 424 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.0534) GTGTGATTTGCGAATGTAAAC 0.388000 ZNF816A 125893 broad.mit.edu 37 19 53454224 53454224 + Missense_Mutation SNP C C A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr19:53454224C>A uc002qal.1 - 5 1105 c.804G>T c.(802-804)CAG>CAT p.Q268H ZNF321_uc010eqj.2_Intron|ZNF321_uc002qak.1_Intron|ZNF816A_uc002qam.1_Missense_Mutation_p.Q252H NM_001031665 NP_001026835 Q0VGE8 ZN816_HUMAN zinc finger protein 816A 268 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.0313) TGTATTGCTTCTGATTAAAGA 0.373000 KIR2DL1 3802 broad.mit.edu 37 19 55285048 55285048 + Missense_Mutation SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr19:55285048T>C uc002qhb.1 + 3 372 c.334T>C c.(334-336)TCA>CCA p.S112P KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR2DL3_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL3_uc002qha.1_Intron|KIR3DP1_uc010yfi.1_Intron|KIR2DL1_uc010erz.1_Missense_Mutation_p.S112P NM_014218 NP_055033 P43626 KI2L1_HUMAN killer cell immunoglobulin-like receptor, two 112 Extracellular (Potential). immune response|natural killer cell inhibitory signaling pathway integral to plasma membrane protein binding|receptor activity 0 GBM - Glioblastoma multiforme(193;0.0192) CTATCAGGTGTCAGCTCCCAG 0.522000 SAPS1 22870 broad.mit.edu 37 19 55758396 55758396 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr19:55758396C>T uc002qjw.3 - 2 318 c.76G>A c.(76-78)GAG>AAG p.E26K SAPS1_uc002qjv.2_Missense_Mutation_p.E88K NM_014931 NP_055746 Q9UPN7 PP6R1_HUMAN SAPS domain family, member 1 26 Interaction with PPP6C. regulation of phosphoprotein phosphatase activity cytoplasm protein phosphatase binding 0 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0449) TCCAGCAGCTCGGGCAGGCTC 0.617000 FIZ1 84922 broad.mit.edu 37 19 56104137 56104137 + Silent SNP C C G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr19:56104137C>G uc002qli.3 - 3 1260 c.1170G>C c.(1168-1170)GCG>GCC p.A390A FIZ1_uc002qlj.3_Silent_p.A390A NM_032836 NP_116225 Q96SL8 FIZ1_HUMAN FLT3-interacting zinc finger 1 390 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding 0 BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.107) GGGCGGCGGTCGCCGCCTCCT 0.741000 EPN1 29924 broad.mit.edu 37 19 56200241 56200241 + Missense_Mutation SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr19:56200241T>C uc002qlw.2 + 4 826 c.484T>C c.(484-486)TCA>CCA p.S162P EPN1_uc002qlv.2_Missense_Mutation_p.S162P|EPN1_uc010etd.2_Missense_Mutation_p.S162P|EPN1_uc002qlx.2_Missense_Mutation_p.S273P NM_001130072 NP_001123544 Q9Y6I3 EPN1_HUMAN epsin 1 isoform b 162 endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|cytoplasm|nucleus|plasma membrane lipid binding 0 Colorectal(82;0.00244)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.112) TCCAGCCTCATCAGCAGCTGT 0.672000 NLRP11 204801 broad.mit.edu 37 19 56303726 56303726 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr19:56303726G>A uc010ygf.1 - 9 3165 c.2454C>T c.(2452-2454)TAC>TAT p.Y818Y NLRP11_uc002qlz.2_Silent_p.Y665Y|NLRP11_uc002qmb.2_Silent_p.Y719Y|NLRP11_uc002qmc.2_RNA|NLRP11_uc010ete.1_RNA NM_145007 NP_659444 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 818 LRR 4. ATP binding ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) GCAACACTCCGTAATTTTTTA 0.468000 ZNF444 55311 broad.mit.edu 37 19 56671208 56671208 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr19:56671208G>A uc002qmm.2 + 5 989 c.622G>A c.(622-624)GCC>ACC p.A208T ZNF444_uc002qmn.1_Missense_Mutation_p.A207T NM_018337 NP_060807 Q8N0Y2 ZN444_HUMAN zinc finger protein 444 208 C2H2-type 2. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0531) GAAGCCGCACGCCTGCCCTGA 0.751000 ZSCAN18 65982 broad.mit.edu 37 19 58596096 58596096 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr19:58596096C>T uc002qri.2 - 7 1798 c.1489G>A c.(1489-1491)GTG>ATG p.V497M ZSCAN18_uc002qrj.3_Missense_Mutation_p.V496M|ZSCAN18_uc010yhs.1_Missense_Mutation_p.V361M|ZSCAN18_uc002qrh.2_Missense_Mutation_p.V497M|ZSCAN18_uc010yht.1_Missense_Mutation_p.V553M|ZSCAN18_uc002qrk.1_3'UTR|ZSCAN18_uc002qrl.2_3'UTR NM_001145543 NP_001139015 Q8TBC5 ZSC18_HUMAN zinc finger and SCAN domain containing 18 497 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) TCGCCCTCCACGCTCTCTGGG 0.746000 ZNF497 162968 broad.mit.edu 37 19 58867569 58867569 + Missense_Mutation SNP G G T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr19:58867569G>T uc002qsh.1 - 3 1622 c.1433C>A c.(1432-1434)CCT>CAT p.P478H A1BG_uc002qsd.3_5'Flank|A1BG_uc002qsf.1_Intron|ZNF497_uc002qsi.1_Missense_Mutation_p.P478H|uc002qsj.1_5'Flank|uc002qsk.1_5'Flank NM_198458 NP_940860 Q6ZNH5 ZN497_HUMAN zinc finger protein 497 478 C2H2-type 14. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2) 2 all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278) GTGGCTGAAAGGCTTCCCGCA 0.697000 PXDN 7837 broad.mit.edu 37 2 1647176 1647176 + Missense_Mutation SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr2:1647176T>C uc002qxa.2 - 19 3980 c.3916A>G c.(3916-3918)AGG>GGG p.R1306G NM_012293 NP_036425 Q92626 PXDN_HUMAN peroxidasin precursor 1306 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) AGGTCTACCCTGGGGATCTCG 0.612000 MYT1L 23040 broad.mit.edu 37 2 1983518 1983518 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr2:1983518C>T uc002qxe.2 - 6 859 c.32G>A c.(31-33)CGC>CAC p.R11H MYT1L_uc002qxd.2_Missense_Mutation_p.R11H|MYT1L_uc002qxf.1_RNA NM_015025 NP_055840 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 11 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|central_nervous_system(1) 6 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) GGACCGCGTGCGATGCCGCTT 0.617000 RAD51AP2 729475 broad.mit.edu 37 2 17698848 17698848 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr2:17698848C>T uc002rcl.1 - 1 859 c.835G>A c.(835-837)GCG>ACG p.A279T RAD51AP2_uc010exn.1_Missense_Mutation_p.A270T NM_001099218 NP_001092688 Q09MP3 R51A2_HUMAN RAD51 associated protein 2 279 ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) TTTTTCTTCGCTATTTCCTTT 0.358000 MFSD2B 388931 broad.mit.edu 37 2 24240221 24240221 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr2:24240221G>A uc002reo.1 + 5 551 c.537G>A c.(535-537)TCG>TCA p.S179S MFSD2B_uc010exz.1_Intron NM_001080473 NP_001073942 A6NFX1 MFS2B_HUMAN major facilitator superfamily domain containing 179 transport integral to membrane ovary(2) 2 AGCGGGACTCGGCCACCGCCT 0.652000 MFSD2B 388931 broad.mit.edu 37 2 24247037 24247037 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr2:24247037C>T uc002reo.1 + 13 1400 c.1386C>T c.(1384-1386)GGC>GGT p.G462G NM_001080473 NP_001073942 A6NFX1 MFS2B_HUMAN major facilitator superfamily domain containing 462 Helical; (Potential). transport integral to membrane ovary(2) 2 TCCTCATTGGCGCCGTGCCCA 0.607000 SLC5A6 8884 broad.mit.edu 37 2 27423328 27423328 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr2:27423328G>A uc002rjd.2 - 17 2275 c.1884C>T c.(1882-1884)TGC>TGT p.C628C SLC5A6_uc010eyv.1_Silent_p.C628C NM_021095 NP_066918 Q9Y289 SC5A6_HUMAN solute carrier family 5 (sodium-dependent 628 biotin metabolic process|pantothenate metabolic process integral to plasma membrane|membrane fraction sodium-dependent multivitamin transmembrane transporter activity ovary(2) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Biotin(DB00121)|Lipoic Acid(DB00166) CCTGGAGGATGCAGGTGGAGC 0.607000 ALK 238 broad.mit.edu 37 2 29462672 29462672 + Silent SNP G G A rs111253753 byFrequency TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr2:29462672G>A uc002rmy.2 - 13 3136 c.2229C>T c.(2227-2229)GGC>GGT p.G743G NM_004304 NP_004295 Q9UM73 ALK_HUMAN anaplastic lymphoma kinase precursor 743 Extracellular (Potential). protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2) haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1) 1218 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) CGCCTTTCCCGCCAGCAGCTC 0.592000 T|Mis|A NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4 ALCL|NSCLC|Neuroblastoma neuroblastoma Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome TTC7A 57217 broad.mit.edu 37 2 47256440 47256440 + Silent SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr2:47256440A>G uc002rvo.2 + 15 2087 c.1719A>G c.(1717-1719)GCA>GCG p.A573A TTC7A_uc002rvm.2_Silent_p.A539A|TTC7A_uc002rvn.1_Silent_p.A454A|TTC7A_uc010fbb.2_Silent_p.A573A|TTC7A_uc010fbc.2_Silent_p.A219A|TTC7A_uc002rvp.2_Silent_p.A454A|TTC7A_uc002rvq.2_Silent_p.A313A|TTC7A_uc002rvr.2_Silent_p.A22A NM_020458 NP_065191 Q9ULT0 TTC7A_HUMAN tetratricopeptide repeat domain 7A 573 TPR 6. binding breast(1)|skin(1) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114) ACCTGCTGGCACTGCTCTTCT 0.592000 SPTBN1 6711 broad.mit.edu 37 2 54858256 54858256 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr2:54858256C>T uc002rxu.2 + 16 3321 c.3072C>T c.(3070-3072)TCC>TCT p.S1024S SPTBN1_uc002rxx.2_Silent_p.S1011S NM_003128 NP_003119 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 isoform 1 1024 Spectrin 7. actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton ovary(3)|breast(2)|central_nervous_system(2)|skin(1) 8 Lung(47;0.24) AGCTGGAGTCCGAGCACCCCG 0.637000 USP34 9736 broad.mit.edu 37 2 61575984 61575984 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr2:61575984G>A uc002sbe.2 - 14 1603 c.1581C>T c.(1579-1581)AGC>AGT p.S527S NM_014709 NP_055524 Q70CQ2 UBP34_HUMAN ubiquitin specific protease 34 527 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1) 19 Epithelial(17;0.229) GATGTGTATCGCTATTATCAC 0.338000 ADD2 119 broad.mit.edu 37 2 70905913 70905913 + Missense_Mutation SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr2:70905913T>C uc002sgz.2 - 11 1771 c.1306A>G c.(1306-1308)ACG>GCG p.T436A ADD2_uc010fds.1_RNA|ADD2_uc002sgy.2_Missense_Mutation_p.T436A|ADD2_uc002sha.2_Intron|ADD2_uc002sgx.2_Missense_Mutation_p.T436A|ADD2_uc010fdt.1_Missense_Mutation_p.T436A|ADD2_uc002shc.1_Missense_Mutation_p.T436A|ADD2_uc002shd.1_Intron|ADD2_uc010fdu.1_Missense_Mutation_p.T452A NM_001617 NP_001608 P35612 ADDB_HUMAN adducin 2 isoform a 436 Interaction with calmodulin (Potential). actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding cytoplasm|F-actin capping protein complex|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding ovary(2)|pancreas(1) 3 GTGTTGGGCGTATTGAGCCAG 0.647000 C2orf7 84279 broad.mit.edu 37 2 73456645 73456645 + Silent SNP G G A rs139180180 byFrequency TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr2:73456645G>A uc002siy.2 - 3 290 c.222C>T c.(220-222)TGC>TGT p.C74C NM_032319 NP_115695 Q9BSG0 PADC1_HUMAN chromosome 2 open reading frame 7 precursor 74 extracellular region 0 TGAGTTCCCCGCAGGCCTCTG 0.537000 FBXO41 150726 broad.mit.edu 37 2 73492583 73492583 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr2:73492583C>T uc002sjb.1 - 5 1574 c.1574G>A c.(1573-1575)CGC>CAC p.R525H NM_001080410 NP_001073879 Q8TF61 FBX41_HUMAN F-box protein 41 464 intracellular protein binding|zinc ion binding breast(2)|pancreas(1) 3 GATGGCCTGGCGCCGCAGGCC 0.701000 ALMS1 7840 broad.mit.edu 37 2 73679208 73679208 + Missense_Mutation SNP C C A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr2:73679208C>A uc002sje.1 + 10 5668 c.5557C>A c.(5557-5559)CCA>ACA p.P1853T ALMS1_uc002sjf.1_Missense_Mutation_p.P1809T|ALMS1_uc002sjg.2_Missense_Mutation_p.P1239T|ALMS1_uc002sjh.1_Missense_Mutation_p.P1239T NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 1851 28.|34 X 47 AA approximate tandem repeat. G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1) 9 TAATTCCTACCCACAGAGAGA 0.453000 DCTN1 1639 broad.mit.edu 37 2 74597749 74597749 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr2:74597749C>T uc002skx.2 - 10 1358 c.1047G>A c.(1045-1047)AAG>AAA p.K349K DCTN1_uc002skv.2_Silent_p.K215K|DCTN1_uc002sku.2_Silent_p.K215K|DCTN1_uc002skw.1_Silent_p.K325K|DCTN1_uc010ffd.2_Silent_p.K329K|DCTN1_uc002sky.2_Silent_p.K312K NM_004082 NP_004073 Q14203 DCTN1_HUMAN dynactin 1 isoform 1 349 Potential. cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development centrosome|cytosol|kinetochore|microtubule|spindle pole motor activity|protein binding ovary(3)|skin(2) 5 GCCCCTTACCCTTCTCTTCAA 0.572000 LRRTM4 80059 broad.mit.edu 37 2 77746782 77746782 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr2:77746782G>A uc002snr.2 - 3 628 c.213C>T c.(211-213)AAC>AAT p.N71N LRRTM4_uc002snq.2_Silent_p.N71N|LRRTM4_uc002sns.2_Silent_p.N71N|LRRTM4_uc002snt.2_Silent_p.N72N NM_001134745 NP_001128217 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 71 LRR 1.|Extracellular (Potential). integral to membrane pancreas(3)|ovary(1) 4 Colorectal(11;0.059) TCTGAATGCTGTTGAACCTTA 0.418000 ZAP70 7535 broad.mit.edu 37 2 98354293 98354293 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr2:98354293G>A uc002syd.1 + 12 1763 c.1556G>A c.(1555-1557)CGC>CAC p.R519H ZAP70_uc002sye.1_Missense_Mutation_p.R409H|ZAP70_uc002syf.1_Missense_Mutation_p.R212H NM_001079 NP_001070 P43403 ZAP70_HUMAN zeta-chain associated protein kinase 70kDa 519 Protein kinase. immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway cytosol|T cell receptor complex ATP binding|non-membrane spanning protein tyrosine kinase activity lung(4)|upper_aerodigestive_tract(1)|ovary(1) 6 TTCTCCAGCCGCAGCGATGTC 0.647000 SLC9A4 389015 broad.mit.edu 37 2 103149045 103149045 + Missense_Mutation SNP G G T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr2:103149045G>T uc002tbz.3 + 12 2752 c.2295G>T c.(2293-2295)GAG>GAT p.E765D NM_001011552 NP_001011552 Q6AI14 SL9A4_HUMAN solute carrier family 9 (sodium/hydrogen 765 Cytoplasmic (Potential). regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity skin(2)|central_nervous_system(1) 3 GGGAGAGTGAGGGCAAGGCCT 0.542000 ZC3H6 376940 broad.mit.edu 37 2 113082135 113082135 + Missense_Mutation SNP C C A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr2:113082135C>A uc002thq.1 + 10 2141 c.1747C>A c.(1747-1749)CAG>AAG p.Q583K NM_198581 NP_940983 P61129 ZC3H6_HUMAN zinc finger CCCH-type domain containing 6 583 nucleic acid binding|zinc ion binding ovary(3)|central_nervous_system(1) 4 TGGTGAAATGCAGCTCAACAC 0.443000 DPP10 57628 broad.mit.edu 37 2 116497367 116497367 + Silent SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr2:116497367A>G uc002tla.1 + 9 1207 c.750A>G c.(748-750)AGA>AGG p.R250R DPP10_uc002tlb.1_Silent_p.R200R|DPP10_uc002tlc.1_Silent_p.R246R|DPP10_uc002tle.2_Silent_p.R254R|DPP10_uc002tlf.1_Silent_p.R243R NM_020868 NP_065919 Q8N608 DPP10_HUMAN dipeptidyl peptidase 10 isoform long 250 Extracellular (Potential). proteolysis integral to membrane|membrane fraction serine-type peptidase activity ovary(5)|large_intestine(2)|skin(2)|breast(1) 10 ATGGAGAAAGACTTGCCTTCC 0.463000 MAP3K2 10746 broad.mit.edu 37 2 128083333 128083333 + Silent SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr2:128083333A>G uc002toj.1 - 8 713 c.648T>C c.(646-648)AGT>AGC p.S216S MAP3K2_uc010flz.1_Silent_p.S216S NM_006609 NP_006600 Q9Y2U5 M3K2_HUMAN mitogen-activated protein kinase kinase kinase 216 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) GTGATGGACAACTTCCTGAGC 0.303000 AMMECR1L 83607 broad.mit.edu 37 2 128628889 128628889 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr2:128628889C>T uc002tpl.2 - 4 703 c.452G>A c.(451-453)CGT>CAT p.R151H AMMECR1L_uc002tpm.2_Missense_Mutation_p.R151H NM_031445 NP_113633 Q6DCA0 AMERL_HUMAN AMME chromosomal region gene 1-like 151 AMMECR1. central_nervous_system(1) 1 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.07) AATGCAGCCACGAAGCCGCTT 0.443000 ATF2 1386 broad.mit.edu 37 2 175986257 175986257 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr2:175986257G>A uc002ujl.2 - 5 376 c.114C>T c.(112-114)AAC>AAT p.N38N ATF2_uc010fqv.2_Nonsense_Mutation_p.R13*|ATF2_uc002ujv.2_Translation_Start_Site|ATF2_uc002ujm.2_Intron|ATF2_uc002ujn.2_Intron|ATF2_uc002ujo.2_Intron|ATF2_uc002ujp.2_RNA|ATF2_uc002ujq.2_Silent_p.N38N|ATF2_uc002ujr.2_RNA|ATF2_uc010fqu.2_Silent_p.N20N|ATF2_uc002ujs.2_Intron|ATF2_uc002ujt.2_RNA|ATF2_uc002uju.2_Intron|ATF2_uc002ujw.1_Intron|ATF2_uc002ujx.1_RNA|ATF2_uc002ujy.1_Silent_p.N38N NM_001880 NP_001871 P15336 ATF2_HUMAN activating transcription factor 2 38 C2H2-type. innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|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 nucleoplasm protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding lung(1)|breast(1)|pancreas(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.125) AATGATCCTCGTTGGTAAAAC 0.323000 HOXD13 3239 broad.mit.edu 37 2 176958155 176958155 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr2:176958155G>A uc002ukf.1 + 1 624 c.537G>A c.(535-537)CCG>CCA p.P179P NM_000523 NP_000514 P35453 HXD13_HUMAN homeobox D13 179 skeletal system development|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding lung(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678) GCAGCGTACCGGCCAACGAGG 0.607000 T NUP98 AML* TTN 7273 broad.mit.edu 37 2 179416766 179416766 + Silent SNP A A T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr2:179416766A>T uc010zfg.1 - 284 83381 c.83157T>A c.(83155-83157)CCT>CCA p.P27719P uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.P21414P|TTN_uc010zfi.1_Silent_p.P21347P|TTN_uc010zfj.1_Silent_p.P21222P NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 28646 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) TGACTAGATTAGGAACTTTGA 0.428000 TTN 7273 broad.mit.edu 37 2 179439492 179439492 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr2:179439492G>A uc010zfg.1 - 275 63887 c.63663C>T c.(63661-63663)ACC>ACT p.T21221T uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.T14916T|TTN_uc010zfi.1_Silent_p.T14849T|TTN_uc010zfj.1_Silent_p.T14724T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 22148 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) TAGTAAGGCGGGTGGCTTTAT 0.448000 TTN 7273 broad.mit.edu 37 2 179481660 179481660 + Missense_Mutation SNP T T G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr2:179481660T>G uc010zfg.1 - 205 40476 c.40252A>C c.(40252-40254)AGT>CGT p.S13418R TTN_uc010zfh.1_Missense_Mutation_p.S7113R|TTN_uc010zfi.1_Missense_Mutation_p.S7046R|TTN_uc010zfj.1_Missense_Mutation_p.S6921R NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 14345 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) TAGCCTGTACTTGGAACCAGG 0.423000 ASNSD1 54529 broad.mit.edu 37 2 190531174 190531174 + Missense_Mutation SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr2:190531174T>C uc002uqt.2 + 4 750 c.316T>C c.(316-318)TCT>CCT p.S106P NM_019048 NP_061921 Q9NWL6 ASND1_HUMAN asparagine synthetase domain containing 1 106 Glutamine amidotransferase type-2. asparagine biosynthetic process|glutamine metabolic process asparagine synthase (glutamine-hydrolyzing) activity ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118) TAAGAATGAATCTGAGATTTT 0.328000 DNAH7 56171 broad.mit.edu 37 2 196759791 196759791 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr2:196759791C>T uc002utj.3 - 30 4906 c.4805G>A c.(4804-4806)CGT>CAT p.R1602H NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1602 AAA 2 (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 AAAACCATGACGCACAATCAT 0.373000 ALS2CR11 151254 broad.mit.edu 37 2 202436664 202436664 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr2:202436664G>A uc002uye.2 - 8 881 c.833C>T c.(832-834)ACA>ATA p.T278I ALS2CR11_uc002uyf.2_Missense_Mutation_p.T278I|ALS2CR11_uc010fti.2_Missense_Mutation_p.T278I NM_152525 NP_689738 Q53TS8 AL2SA_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 278 large_intestine(1)|ovary(1)|skin(1) 3 AAACACTTACGTCACGGGATC 0.353000 ACADL 33 broad.mit.edu 37 2 211069401 211069401 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr2:211069401G>A uc002vdz.3 - 7 1002 c.774C>T c.(772-774)ACC>ACT p.T258T NM_001608 NP_001599 P28330 ACADL_HUMAN long-chain acyl-CoA dehydrogenase precursor 258 carnitine catabolic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis mitochondrial matrix long-chain-acyl-CoA dehydrogenase activity|palmitoyl-CoA oxidase activity 0 Renal(323;0.202) Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621) ATAGTTCTGCGGTATCCTAAG 0.279000 ERBB4 2066 broad.mit.edu 37 2 212615400 212615400 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr2:212615400G>A uc002veg.1 - 5 684 c.586C>T c.(586-588)CGT>TGT p.R196C ERBB4_uc002veh.1_Missense_Mutation_p.R196C|ERBB4_uc010zji.1_Missense_Mutation_p.R196C|ERBB4_uc010zjj.1_Missense_Mutation_p.R196C|ERBB4_uc010fut.1_Missense_Mutation_p.R196C NM_005235 NP_005226 Q15303 ERBB4_HUMAN v-erb-a erythroblastic leukemia viral oncogene 196 Cys-rich.|Extracellular (Potential). cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 33 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) CCCCAGCAACGGCCAGTACAG 0.453000 TSP Lung(8;0.080) OBSL1 23363 broad.mit.edu 37 2 220430066 220430066 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr2:220430066G>A uc010fwk.2 - 6 2362 c.2305C>T c.(2305-2307)CGC>TGC p.R769C OBSL1_uc010zli.1_5'Flank|OBSL1_uc010fwl.1_Missense_Mutation_p.R244C|OBSL1_uc002vmi.2_Missense_Mutation_p.R769C|OBSL1_uc002vmj.2_Missense_Mutation_p.R356C NM_015311 NP_056126 O75147 OBSL1_HUMAN obscurin-like 1 769 Ig-like 5. cardiac myofibril assembly intercalated disc|M band|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity 0 Renal(207;0.0376) Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834) CGGTGTTTGCGCCCATCCATC 0.587000 OREG0003987 type=REGULATORY REGION|Gene=BC061909|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay OBSL1 23363 broad.mit.edu 37 2 220434995 220434995 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr2:220434995G>A uc010fwk.2 - 1 1017 c.960C>T c.(958-960)GCC>GCT p.A320A OBSL1_uc010fwl.1_5'Flank|OBSL1_uc002vmi.2_Silent_p.A320A|OBSL1_uc002vmj.2_Intron|INHA_uc002vmk.1_5'Flank NM_015311 NP_056126 O75147 OBSL1_HUMAN obscurin-like 1 320 Ig-like 3. cardiac myofibril assembly intercalated disc|M band|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity 0 Renal(207;0.0376) Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834) AGTTGCGCGCGGCGCAGACGT 0.697000 CHRNG 1146 broad.mit.edu 37 2 233409277 233409277 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr2:233409277G>A uc002vsx.1 + 10 1257 c.1236G>A c.(1234-1236)GCG>GCA p.A412A CHRNG_uc010fye.1_Silent_p.A360A NM_005199 NP_005190 P07510 ACHG_HUMAN cholinergic receptor, nicotinic, gamma 412 Cytoplasmic (Potential). muscle contraction cell junction|postsynaptic membrane acetylcholine receptor activity 0 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086) TGGCGGCAGCGCTGGAGAAGC 0.652000 UGT1A1 54658 broad.mit.edu 37 2 234669110 234669110 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr2:234669110C>T uc002vvb.2 + 1 192 c.177C>T c.(175-177)GTC>GTT p.V59V UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Intron|UGT1A3_uc002vuy.2_Intron|UGT1A9_uc002vva.2_Intron|UGT1A1_uc010znc.1_Silent_p.V59V NM_000463 NP_000454 P22309 UD11_HUMAN UDP glycosyltransferase 1 family, polypeptide A1 59 bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process endoplasmic reticulum membrane|microsome enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding central_nervous_system(1)|skin(1) 2 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054) Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197) AAATAGTTGTCCTAGCACCTG 0.522000 GBX2 2637 broad.mit.edu 37 2 237075034 237075034 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr2:237075034G>A uc002vvw.1 - 2 608 c.570C>T c.(568-570)GAC>GAT p.D190D GBX2_uc010zng.1_Nonsense_Mutation_p.R193* NM_001485 NP_001476 P52951 GBX2_HUMAN gastrulation brain homeo box 2 190 LPPAHPHHQIPSLPTGFCSSLAQGMALTSTLMATLPGGFSA SPQHQEAAAARKFAPQPLPGGGNFDKAEALQADAEDGKGFL AKEGSLLAFSAAETVQASLVGAVRGQGKDESKVEDDPKG -> CRPHTLTTRSPACPQASAPAWRRAWRSPLRSWPRSPAA SPRRPSTRRRQRPASSRRSRCPAAVTSTRRRRCRLTRRTAK ASWPKRARCSPSPRPRRCRLRSSGLSEGKGKTSQRWKTTRS (in Ref. 1; AAC03241). nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179) Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471) CCTTCGGGTCGTCTTCCACCT 0.542000 COL6A3 1293 broad.mit.edu 37 2 238274488 238274488 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr2:238274488C>T uc002vwl.2 - 12 5976 c.5691G>A c.(5689-5691)CCG>CCA p.P1897P COL6A3_uc002vwo.2_Silent_p.P1691P|COL6A3_uc010znj.1_Silent_p.P1290P NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 1897 VWFA 10.|Nonhelical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) AGGCCTCCACCGGGCCCGAGG 0.627000 TMC2 117532 broad.mit.edu 37 20 2575544 2575544 + Missense_Mutation SNP G G A rs138292313 byFrequency TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr20:2575544G>A uc002wgf.1 + 9 1022 c.1007G>A c.(1006-1008)CGG>CAG p.R336Q TMC2_uc002wgg.1_Missense_Mutation_p.R320Q|TMC2_uc010zpw.1_Missense_Mutation_p.R168Q|TMC2_uc010zpx.1_Missense_Mutation_p.R167Q NM_080751 NP_542789 Q8TDI7 TMC2_HUMAN transmembrane cochlear-expressed protein 2 336 Extracellular (Potential). integral to membrane ovary(3) 3 CTGAGGTACCGGCTGCCTATG 0.517000 PTPRA 5786 broad.mit.edu 37 20 3001963 3001963 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr20:3001963C>T uc010zqd.1 + 13 1400 c.1083C>T c.(1081-1083)TGC>TGT p.C361C PTPRA_uc002whj.2_Silent_p.C350C|PTPRA_uc002whk.2_Silent_p.C341C|PTPRA_uc002whl.2_Silent_p.C341C|PTPRA_uc002whm.2_Silent_p.C117C|PTPRA_uc002whn.2_Silent_p.C341C|PTPRA_uc002who.2_Silent_p.C13C NM_002836 NP_002827 P18433 PTPRA_HUMAN protein tyrosine phosphatase, receptor type, A 350 Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential). axon guidance|protein phosphorylation integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity upper_aerodigestive_tract(1) 1 AGTGCAAGTGCGCCCAGTACT 0.532000 ATRN 8455 broad.mit.edu 37 20 3557644 3557644 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr20:3557644G>A uc002wim.2 + 14 2443 c.2353G>A c.(2353-2355)GAA>AAA p.E785K ATRN_uc002wil.2_Missense_Mutation_p.E785K NM_139321 NP_647537 O75882 ATRN_HUMAN attractin isoform 1 785 Extracellular (Potential).|PSI 2. inflammatory response extracellular space|integral to plasma membrane receptor activity|sugar binding ovary(1)|breast(1) 2 TGCCCTGCCCGGTAGGCCTTG 0.577000 ATRN 8455 broad.mit.edu 37 20 3562942 3562942 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr20:3562942G>A uc002wim.2 + 16 2795 c.2705G>A c.(2704-2706)CGG>CAG p.R902Q ATRN_uc002wil.2_Missense_Mutation_p.R902Q NM_139321 NP_647537 O75882 ATRN_HUMAN attractin isoform 1 902 Extracellular (Potential).|C-type lectin. inflammatory response extracellular space|integral to plasma membrane receptor activity|sugar binding ovary(1)|breast(1) 2 CCCAGTACTCGGGGACTGAAG 0.458000 SIGLEC1 6614 broad.mit.edu 37 20 3675116 3675116 + Missense_Mutation SNP A A T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr20:3675116A>T uc002wja.2 - 12 3008 c.3008T>A c.(3007-3009)CTC>CAC p.L1003H SIGLEC1_uc002wjb.1_5'Flank|SIGLEC1_uc002wiz.3_Missense_Mutation_p.L1003H NM_023068 NP_075556 Q9BZZ2 SN_HUMAN sialoadhesin precursor 1003 Ig-like C2-type 10.|Extracellular (Potential). cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1) 10 ACGGCACAGGAGGAGGCCCAG 0.677000 PLCB1 23236 broad.mit.edu 37 20 8639224 8639224 + Missense_Mutation SNP G G T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr20:8639224G>T uc002wnb.2 + 9 738 c.735G>T c.(733-735)ATG>ATT p.M245I PLCB1_uc010zrb.1_Missense_Mutation_p.M144I|PLCB1_uc002wna.2_Missense_Mutation_p.M245I|PLCB1_uc002wnc.1_Missense_Mutation_p.M144I NM_015192 NP_056007 Q9NQ66 PLCB1_HUMAN phosphoinositide-specific phospholipase C beta 1 245 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 TTGATCAGATGATGGATTTTA 0.323000 ESF1 51575 broad.mit.edu 37 20 13763472 13763472 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr20:13763472G>A uc002woj.2 - 2 423 c.315C>T c.(313-315)ATC>ATT p.I105I ESF1_uc002wok.1_Silent_p.I105I|C20orf7_uc002wol.1_5'Flank|C20orf7_uc002wom.2_5'Flank|C20orf7_uc002won.2_5'Flank|C20orf7_uc002woo.2_5'Flank NM_016649 NP_057733 Q9H501 ESF1_HUMAN ABT1-associated protein 105 Lys-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|nucleoplasm ovary(1) 1 TTTTTGAATCGATTTCTTTTT 0.303000 NAA20 51126 broad.mit.edu 37 20 20007472 20007472 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr20:20007472G>A uc002wrp.2 + 4 318 c.214G>A c.(214-216)GGG>AGG p.G72R NAA20_uc002wrq.2_Missense_Mutation_p.G72R|NAA20_uc002wrr.2_Missense_Mutation_p.G60R NM_016100 NP_057184 P61599 NAA20_HUMAN N-acetyltransferase 5 isoform a 72 N-acetyltransferase. cytoplasm|nucleus peptide alpha-N-acetyltransferase activity 0 AGAATGGCACGGGCACGTCAC 0.433000 GZF1 64412 broad.mit.edu 37 20 23345920 23345920 + Silent SNP A A G rs146870841 TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr20:23345920A>G uc010gdb.2 + 3 1074 c.900A>G c.(898-900)GAA>GAG p.E300E GZF1_uc002wsy.2_Silent_p.E300E|GZF1_uc010zsq.1_Intron|GZF1_uc010zsr.1_Intron|GZF1_uc002wsz.2_Silent_p.E300E NM_022482 NP_071927 Q9H116 GZF1_HUMAN GDNF-inducible zinc finger protein 1 300 transcription, DNA-dependent nucleolus|nucleoplasm sequence-specific DNA binding|zinc ion binding kidney(1) 1 Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135) Cggaggaggaagaggaggagg 0.378000 CBFA2T2 9139 broad.mit.edu 37 20 32232360 32232360 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr20:32232360G>A uc002wzg.1 + 12 2260 c.1723G>A c.(1723-1725)GTG>ATG p.V575M CBFA2T2_uc010zug.1_Missense_Mutation_p.V349M|CBFA2T2_uc002wze.1_Missense_Mutation_p.V566M|CBFA2T2_uc002wzf.1_RNA|CBFA2T2_uc002wzh.1_Missense_Mutation_p.V546M|CBFA2T2_uc002wzi.1_RNA|CBFA2T2_uc002wzj.1_RNA|CBFA2T2_uc002wzk.1_Missense_Mutation_p.V123M NM_005093 NP_005084 O43439 MTG8R_HUMAN core-binding factor, runt domain, alpha subunit 575 nucleus protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding pancreas(1)|skin(1) 2 CGACTGCAGCGTGCCCAGCCC 0.662000 CEP250 11190 broad.mit.edu 37 20 34067839 34067839 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr20:34067839C>T uc002xcm.2 + 21 3126 c.2455C>T c.(2455-2457)CGG>TGG p.R819W CEP250_uc010zve.1_Missense_Mutation_p.R187W NM_007186 NP_009117 Q9BV73 CP250_HUMAN centrosomal protein 2 819 Gln/Glu-rich.|Potential. centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding ovary(4)|central_nervous_system(1) 5 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) GGACACTGAACGGAGTCAGGC 0.582000 SRC 6714 broad.mit.edu 37 20 36024669 36024669 + Missense_Mutation SNP C C A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr20:36024669C>A uc002xgx.2 + 8 1107 c.658C>A c.(658-660)CGC>AGC p.R220S SRC_uc002xgy.2_Missense_Mutation_p.R220S NM_005417 NP_005408 P12931 SRC_HUMAN proto-oncogene tyrosine-protein kinase SRC 220 SH2. axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|Ras protein signal transduction|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly|T cell costimulation caveola|cytosol|mitochondrial inner membrane ATP binding|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|SH3/SH2 adaptor activity large_intestine(10)|lung(1)|central_nervous_system(1)|endometrium(1) 13 Myeloproliferative disorder(115;0.00878) Dasatinib(DB01254) CATCACCTCCCGCACCCAGTT 0.622000 ACTR5 79913 broad.mit.edu 37 20 37384640 37384640 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr20:37384640G>A uc002xjd.2 + 5 1159 c.1134G>A c.(1132-1134)GCG>GCA p.A378A NM_024855 NP_079131 Q9H9F9 ARP5_HUMAN ARP5 actin-related protein 5 homolog 378 Potential. DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair cytoplasm|Ino80 complex ATP binding|protein binding 0 Myeloproliferative disorder(115;0.00878) TCCTCCAAGCGGAAGTCAACC 0.537000 PLCG1 5335 broad.mit.edu 37 20 39794988 39794988 + Nonsense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr20:39794988C>T uc002xjp.1 + 17 2075 c.1954C>T c.(1954-1956)CGA>TGA p.R652* PLCG1_uc002xjo.1_Nonsense_Mutation_p.R652*|PLCG1_uc010zwe.1_Nonsense_Mutation_p.R278*|PLCG1_uc010ggf.2_Nonsense_Mutation_p.R2* NM_182811 NP_877963 P19174 PLCG1_HUMAN phospholipase C, gamma 1 isoform b 652 SH2 1. activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway cytosol|lamellipodium|plasma membrane|ruffle calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity lung(3)|breast(3)|skin(2) 8 Myeloproliferative disorder(115;0.00878) GTTTGAGATGCGACTTTCAGA 0.587000 CHD6 84181 broad.mit.edu 37 20 40112160 40112160 + Splice_Site SNP C C A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr20:40112160C>A uc002xka.1 - 16 2436 c.2258_splice c.e16-1 p.G753_splice CHD6_uc002xkd.2_Splice_Site_p.G731_splice NM_032221 NP_115597 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 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) TCCTCTGCTCCTGAAAAGGAA 0.433000 SEMG2 6407 broad.mit.edu 37 20 43850895 43850895 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr20:43850895C>T uc010ggz.2 + 2 679 c.622C>T c.(622-624)CGT>TGT p.R208C SEMG2_uc002xnk.2_Missense_Mutation_p.R208C|SEMG2_uc002xnl.2_Missense_Mutation_p.R208C NM_003008 NP_002999 Q02383 SEMG2_HUMAN semenogelin II precursor 208 2-2.|Repeat-rich region. sexual reproduction extracellular space|stored secretory granule structural molecule activity skin(1) 1 Myeloproliferative disorder(115;0.0122) CAAACAACAACGTGAGACTAA 0.398000 MATN4 8785 broad.mit.edu 37 20 43926884 43926884 + Missense_Mutation SNP C C T rs142628816 TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr20:43926884C>T uc002xnn.2 - 7 1539 c.1352G>A c.(1351-1353)CGT>CAT p.R451H MATN4_uc002xno.2_Missense_Mutation_p.R410H|MATN4_uc002xnp.2_Missense_Mutation_p.R369H|MATN4_uc010zwr.1_Missense_Mutation_p.R399H|MATN4_uc002xnr.1_Missense_Mutation_p.R451H NM_003833 NP_003824 O95460 MATN4_HUMAN matrilin 4 isoform 1 precursor 492 VWFA 2. extracellular region protein binding 0 Myeloproliferative disorder(115;0.0122) CAGGCCAACACGAGGCACGTT 0.662000 SLC2A10 81031 broad.mit.edu 37 20 45354113 45354113 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr20:45354113C>T uc002xsl.2 + 2 535 c.438C>T c.(436-438)GGC>GGT p.G146G NM_030777 NP_110404 O95528 GTR10_HUMAN solute carrier family 2 member 10 146 Helical; Name=5; (Potential). endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity ovary(1) 1 Myeloproliferative disorder(115;0.0122) TCACCGTGGGCATCCTGCTCT 0.627000 PREX1 57580 broad.mit.edu 37 20 47253137 47253137 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr20:47253137G>A uc002xtw.1 - 32 4054 c.4031C>T c.(4030-4032)GCG>GTG p.A1344V PREX1_uc002xtv.1_Missense_Mutation_p.A641V NM_020820 NP_065871 Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4, 1344 actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity lung(3)|ovary(2)|pancreas(1) 6 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) GCCCAGGGCCGCCAGCAGCTG 0.687000 STAU1 6780 broad.mit.edu 37 20 47741116 47741116 + Silent SNP C C A rs139881819 TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr20:47741116C>A uc002xud.2 - 7 1029 c.618G>T c.(616-618)CGG>CGT p.R206R STAU1_uc002xua.2_Silent_p.R125R|STAU1_uc002xub.2_Silent_p.R131R|STAU1_uc002xuc.2_Silent_p.R125R|STAU1_uc002xue.2_Silent_p.R125R|STAU1_uc002xuf.2_Silent_p.R131R|STAU1_uc002xug.2_Silent_p.R206R NM_017453 NP_059347 O95793 STAU1_HUMAN staufen isoform b 206 DRBM 2. microtubule associated complex|rough endoplasmic reticulum|stress granule double-stranded RNA binding ovary(4)|kidney(1) 5 BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198) GGCCACTCTCCCGGGCCACCT 0.507000 ZNF217 7764 broad.mit.edu 37 20 52193262 52193262 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr20:52193262C>T uc002xwq.3 - 3 2312 c.2041G>A c.(2041-2043)GAT>AAT p.D681N ZNF217_uc010gij.1_Missense_Mutation_p.D673N NM_006526 NP_006517 O75362 ZN217_HUMAN zinc finger protein 217 681 negative regulation of transcription, DNA-dependent histone deacetylase complex protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding skin(2)|ovary(1)|large_intestine(1)|lung(1)|breast(1) 6 all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398) BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198) TCGTGACAATCCACACTTGGC 0.468000 TFAP2C 7022 broad.mit.edu 37 20 55206438 55206438 + Missense_Mutation SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr20:55206438T>C uc002xya.2 + 2 469 c.226T>C c.(226-228)TAC>CAC p.Y76H TFAP2C_uc010zzi.1_5'UTR NM_003222 NP_003213 Q92754 AP2C_HUMAN transcription factor AP-2 gamma 76 Gln/Pro-rich (transactivation domain). cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 Colorectal(105;0.229) GGCCGACCCCTACTCGCATCT 0.706000 LAMA5 3911 broad.mit.edu 37 20 60913608 60913608 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr20:60913608C>T uc002ycq.2 - 12 1601 c.1534G>A c.(1534-1536)GTG>ATG p.V512M NM_005560 NP_005551 O15230 LAMA5_HUMAN laminin alpha 5 precursor 512 Laminin EGF-like 4. 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) CAGCGTCCCACCCTTGGGTCC 0.662000 TPD52L2 7165 broad.mit.edu 37 20 62500698 62500698 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr20:62500698G>A uc002yhc.2 + 2 198 c.69G>A c.(67-69)ACG>ACA p.T23T TPD52L2_uc002ygy.2_Silent_p.T23T|TPD52L2_uc002ygz.2_Silent_p.T23T|TPD52L2_uc002yha.2_Silent_p.T23T|TPD52L2_uc002yhb.2_Silent_p.T23T|TPD52L2_uc002yhd.2_Silent_p.T23T|TPD52L2_uc011abk.1_5'UTR|TPD52L2_uc011abl.1_Intron NM_003288 NP_003279 O43399 TPD54_HUMAN tumor protein D52-like 2 isoform e 23 regulation of cell proliferation perinuclear region of cytoplasm protein binding|protein homodimerization activity ovary(1)|skin(1) 2 all_cancers(38;1.3e-12)|all_epithelial(29;2.23e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09) ACTCCATGACGGATGTTCCTG 0.517000 MYT1 4661 broad.mit.edu 37 20 62848507 62848507 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr20:62848507G>A uc002yii.2 + 11 2083 c.1719G>A c.(1717-1719)TTG>TTA p.L573L MYT1_uc002yih.2_Silent_p.L275L|MYT1_uc002yij.2_Silent_p.L205L NM_004535 NP_004526 Q01538 MYT1_HUMAN myelin transcription factor 1 573 ATPRANLA -> RHTQGQLG (in Ref. 5; AAA59897). cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) GGGCCAACTTGGCCAAGGAGC 0.577000 SAMSN1 64092 broad.mit.edu 37 21 15882784 15882784 + Splice_Site SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr21:15882784T>C uc002yju.1 - 5 492 c.410_splice c.e5-1 p.S137_splice SAMSN1_uc010gky.1_Intron|SAMSN1_uc002yjv.1_Splice_Site_p.S205_splice NM_022136 NP_071419 Q9NSI8 SAMN1_HUMAN SAM domain, SH3 domain and nuclear localization negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation cytoplasm|nucleus|ruffle phosphotyrosine binding ovary(3)|pancreas(1) 4 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164) TTATGCCACCTGATGAAAGCA 0.463000 GABPA 2551 broad.mit.edu 37 21 27137089 27137089 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr21:27137089G>A uc002ylx.3 + 9 1654 c.1127G>A c.(1126-1128)CGT>CAT p.R376H GABPA_uc002yly.3_Missense_Mutation_p.R376H NM_002040 NP_002031 Q06546 GABPA_HUMAN GA binding protein transcription factor, alpha 376 ETS. positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding ovary(1)|central_nervous_system(1) 2 AAACTCAGTCGTGCATTAAGG 0.328000 RNF160 26046 broad.mit.edu 37 21 30325581 30325581 + Missense_Mutation SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr21:30325581A>G uc002ymr.2 - 17 3348 c.3335T>C c.(3334-3336)GTA>GCA p.V1112A NM_015565 NP_056380 O94822 LTN1_HUMAN zinc finger protein 294 1066 ligase activity|zinc ion binding 0 ATTACCAAGTACACGTAAGTT 0.328000 BRWD1 54014 broad.mit.edu 37 21 40587277 40587277 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr21:40587277G>A uc002yxk.1 - 32 3810 c.3671C>T c.(3670-3672)GCG>GTG p.A1224V BRWD1_uc010goc.1_5'UTR|BRWD1_uc002yxl.2_Missense_Mutation_p.A1224V|BRWD1_uc010god.1_Missense_Mutation_p.A190V NM_018963 NP_061836 Q9NSI6 BRWD1_HUMAN bromodomain and WD repeat domain containing 1 1224 Bromo 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus skin(3)|ovary(1) 4 Prostate(19;8.44e-08)|all_epithelial(19;0.223) CCAAACTAACGCAGACAGCCT 0.353000 CBS 875 broad.mit.edu 37 21 44488617 44488617 + Splice_Site SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr21:44488617A>G uc002zcu.2 - 4 561 c.316_splice c.e4+1 p.L106_splice CBS_uc002zcs.1_5'Flank|CBS_uc002zct.2_Splice_Site_p.L106_splice|CBS_uc002zcw.3_Splice_Site_p.L106_splice|CBS_uc002zcv.2_Splice_Site_p.L106_splice NM_000071 NP_000062 P35520 CBS_HUMAN cystathionine-beta-synthase cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process cytosol|nucleolus cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding 0 L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118) CAGGGCACTCACAGAGCTCAC 0.458000 ICOSLG 23308 broad.mit.edu 37 21 45657063 45657063 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr21:45657063G>A uc002zee.2 - 3 227 c.93C>T c.(91-93)AGC>AGT p.S31S ICOSLG_uc011afc.1_Intron|ICOSLG_uc002zef.2_Intron|ICOSLG_uc010gpp.1_Silent_p.S31S NM_015259 NP_056074 O75144 ICOSL_HUMAN inducible T-cell co-stimulator ligand precursor 31 Ig-like V-type.|Extracellular (Potential). B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation receptor binding 0 Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772) GCTCCACGTCGCTGCCTACCA 0.502000 DIP2A 23181 broad.mit.edu 37 21 47987520 47987520 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr21:47987520C>T uc002zjo.2 + 38 4884 c.4701C>T c.(4699-4701)GTC>GTT p.V1567V DIP2A_uc011afz.1_Silent_p.V1563V|DIP2A_uc002zjs.2_Silent_p.V247V|DIP2A_uc002zjt.2_RNA NM_015151 NP_055966 Q14689 DIP2A_HUMAN disco-interacting protein 2A isoform a 1567 multicellular organismal development nucleus catalytic activity|transcription factor binding ovary(2) 2 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) CCATCTATGTCGCCTACAACA 0.617000 SCARF2 91179 broad.mit.edu 37 22 20783851 20783851 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr22:20783851C>T uc002zsj.1 - 8 1501 c.1396G>A c.(1396-1398)GCT>ACT p.A466T SCARF2_uc002zsk.1_Missense_Mutation_p.A466T NM_153334 NP_699165 Q96GP6 SREC2_HUMAN scavenger receptor class F, member 2 isoform 1 466 Cytoplasmic (Potential). cell adhesion integral to membrane protein binding|receptor activity breast(1) 1 Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) CCGCGGCAAGCGCAGCAGCAG 0.697000 PPIL2 23759 broad.mit.edu 37 22 22035655 22035655 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr22:22035655G>A uc010gtj.1 + 7 479 c.363G>A c.(361-363)ACG>ACA p.T121T PPIL2_uc002zvh.3_Silent_p.T121T|PPIL2_uc002zvi.3_Silent_p.T121T|PPIL2_uc002zvg.3_Silent_p.T121T|PPIL2_uc011aij.1_Silent_p.T100T NM_148175 NP_680480 Q13356 PPIL2_HUMAN peptidylprolyl isomerase-like 2 isoform a 121 blood coagulation|leukocyte migration|protein folding|protein polyubiquitination Golgi lumen|nucleus|ubiquitin ligase complex peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity ovary(2) 2 Colorectal(54;0.105) CTGTGAGGACGACCGGCAACG 0.587000 GNAZ 2781 broad.mit.edu 37 22 23437850 23437850 + Translation_Start_Site SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr22:23437850G>A uc002zwu.1 + 2 505 c.-32G>A c.(-34--30)CCGTG>CCATG RTDR1_uc002zwt.2_Intron NM_002073 NP_002064 P19086 GNAZ_HUMAN guanine nucleotide binding protein, alpha z endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity kidney(1)|skin(1) 2 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.166) GCCCCATCCCGTGCTCCTTGT 0.647000 CABIN1 23523 broad.mit.edu 37 22 24563190 24563190 + Missense_Mutation SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr22:24563190A>G uc002zzi.1 + 32 5718 c.5591A>G c.(5590-5592)TAC>TGC p.Y1864C CABIN1_uc002zzj.1_Missense_Mutation_p.Y1785C|CABIN1_uc002zzl.1_Missense_Mutation_p.Y1864C|CABIN1_uc002zzm.1_Missense_Mutation_p.Y289C NM_012295 NP_036427 Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 1864 cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 5 TTGGATGCCTACCGTGTGTGG 0.632000 SEZ6L 23544 broad.mit.edu 37 22 26743798 26743798 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr22:26743798G>A uc003acb.2 + 11 2482 c.2326G>A c.(2326-2328)GGC>AGC p.G776S SEZ6L_uc003acc.2_Missense_Mutation_p.G776S|SEZ6L_uc011akc.1_Missense_Mutation_p.G776S|SEZ6L_uc003acd.2_Missense_Mutation_p.G776S|SEZ6L_uc011akd.1_Missense_Mutation_p.G776S|SEZ6L_uc003ace.2_Missense_Mutation_p.G776S|SEZ6L_uc003acf.1_Missense_Mutation_p.G549S|SEZ6L_uc010gvc.1_Missense_Mutation_p.G549S|SEZ6L_uc011ake.1_RNA NM_021115 NP_066938 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 776 Sushi 3.|Extracellular (Potential). endoplasmic reticulum membrane|integral to membrane ovary(4)|central_nervous_system(1)|pancreas(1) 6 GTGTGACCCCGGCTATGACAT 0.557000 KREMEN1 83999 broad.mit.edu 37 22 29534746 29534746 + Missense_Mutation SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr22:29534746A>G uc011akm.1 + 7 1112 c.1099A>G c.(1099-1101)AGC>GGC p.S367G KREMEN1_uc003ael.2_Missense_Mutation_p.S367G|KREMEN1_uc011akn.1_Missense_Mutation_p.S250G NM_032045 NP_114434 Q96MU8 KREM1_HUMAN kringle-containing transmembrane protein 1 365 Extracellular (Potential). cell communication|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane|membrane fraction protein binding ovary(3)|lung(2) 5 CACCAGCCCCAGCCACCCACC 0.592000 THOC5 8563 broad.mit.edu 37 22 29940500 29940500 + Missense_Mutation SNP C C A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr22:29940500C>A uc003afr.2 - 4 524 c.189G>T c.(187-189)CAG>CAT p.Q63H THOC5_uc003afs.2_Missense_Mutation_p.Q63H|THOC5_uc003aft.2_Missense_Mutation_p.Q63H|THOC5_uc003afu.2_Missense_Mutation_p.Q63H|THOC5_uc010gvo.2_5'UTR|THOC5_uc003afv.1_Missense_Mutation_p.Q63H|THOC5_uc003afw.1_5'Flank NM_001002878 NP_001002878 Q13769 THOC5_HUMAN THO complex 5 63 Interaction with THOC7.|Interaction with CSF1R (By similarity). intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex protein binding|RNA binding breast(3) 3 CCATCAGCCTCTGTAGCTCCT 0.542000 C22orf42 150297 broad.mit.edu 37 22 32546324 32546324 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr22:32546324G>A uc003amd.2 - 7 677 c.636C>T c.(634-636)GAC>GAT p.D212D NM_001010859 NP_001010859 Q6IC83 CV042_HUMAN chromosome 22 open reading frame 42 212 ovary(1)|skin(1) 2 GTGTCATGAGGTCTTCAAGAG 0.398000 MYH9 4627 broad.mit.edu 37 22 36684413 36684413 + Missense_Mutation SNP G G A rs145319741 TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr22:36684413G>A uc003apg.2 - 34 5048 c.4817C>T c.(4816-4818)TCG>TTG p.S1606L NM_002473 NP_002464 P35579 MYH9_HUMAN myosin, heavy polypeptide 9, non-muscle 1606 Potential. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1) 11 CACTGCCATCGAGCGCTGCTT 0.617000 T ALK ALCL Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome Hereditary_Macrothrombocytopenia_MYH9-associated MYH9 4627 broad.mit.edu 37 22 36693034 36693034 + Nonsense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr22:36693034G>A uc003apg.2 - 25 3358 c.3127C>T c.(3127-3129)CGA>TGA p.R1043* NM_002473 NP_002464 P35579 MYH9_HUMAN myosin, heavy polypeptide 9, non-muscle 1043 Potential. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1) 11 AGCTCCTGTCGCTGCTTCTCC 0.597000 T ALK ALCL Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome Hereditary_Macrothrombocytopenia_MYH9-associated CSF2RB 1439 broad.mit.edu 37 22 37332596 37332596 + Silent SNP G G T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr22:37332596G>T uc003aqa.3 + 13 1687 c.1470G>T c.(1468-1470)GGG>GGT p.G490G CSF2RB_uc003aqc.3_Silent_p.G496G NM_000395 NP_000386 P32927 IL3RB_HUMAN colony stimulating factor 2 receptor, beta 490 Cytoplasmic (Potential). respiratory gaseous exchange granulocyte macrophage colony-stimulating factor receptor complex cytokine receptor activity skin(2)|pancreas(1) 3 Sargramostim(DB00020) TGCAGAACGGGAGCGCAGAGC 0.667000 IL2RB 3560 broad.mit.edu 37 22 37524250 37524250 + Silent SNP G G T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr22:37524250G>T uc003aqv.1 - 10 1673 c.1542C>A c.(1540-1542)TCC>TCA p.S514S NM_000878 NP_000869 P14784 IL2RB_HUMAN interleukin 2 receptor beta precursor 514 Cytoplasmic (Potential). interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly external side of plasma membrane|integral to plasma membrane interleukin-2 receptor activity 0 Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004) CAGGAGGCCTGGACCAGGGGA 0.637000 NPTXR 23467 broad.mit.edu 37 22 39222674 39222674 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr22:39222674C>T uc003awk.2 - 3 1083 c.929G>A c.(928-930)CGG>CAG p.R310Q NM_014293 NP_055108 O95502 NPTXR_HUMAN neuronal pentraxin receptor 310 Pentaxin.|Extracellular (Potential). integral to membrane metal ion binding central_nervous_system(2)|skin(1) 3 Melanoma(58;0.04) CAGAGCCTTCCGCACGCGGGC 0.632000 PDGFB 5155 broad.mit.edu 37 22 39621798 39621798 + Missense_Mutation SNP G G T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr22:39621798G>T uc003axf.2 - 6 1645 c.656C>A c.(655-657)CCC>CAC p.P219H PDGFB_uc003axe.2_Missense_Mutation_p.P204H NM_002608 NP_002599 P01127 PDGFB_HUMAN platelet-derived growth factor beta isoform 1 219 activation of protein kinase B activity|cellular response to mycophenolic acid|embryonic placenta development|heart development|hemopoiesis|metanephric glomerular mesangial cell development|monocyte chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|negative regulation of transcription, DNA-dependent|paracrine signaling|peptidyl-serine phosphorylation|peptidyl-tyrosine phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of calcium ion import|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of cyclin-dependent protein kinase activity|positive regulation of DNA biosynthetic process|positive regulation of DNA replication|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of glomerular filtration|positive regulation of glomerular mesangial cell proliferation|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent|reactive oxygen species metabolic process|transforming growth factor beta receptor signaling pathway basolateral plasma membrane|cell surface|endoplasmic reticulum lumen|extracellular region|Golgi membrane|platelet alpha granule lumen collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|superoxide-generating NADPH oxidase activator activity p.P219P(1) COL1A1/PDGFB(372) soft_tissue(372)|central_nervous_system(1) 373 Melanoma(58;0.04) Becaplermin(DB00102) CTTGCCCTTGGGGGGCCGGCG 0.597000 T COL1A1 DFSP PDGFB 5155 broad.mit.edu 37 22 39631827 39631827 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr22:39631827C>T uc003axf.2 - 2 1105 c.116G>A c.(115-117)CGC>CAC p.R39H PDGFB_uc003axe.2_Missense_Mutation_p.R24H NM_002608 NP_002599 P01127 PDGFB_HUMAN platelet-derived growth factor beta isoform 1 39 activation of protein kinase B activity|cellular response to mycophenolic acid|embryonic placenta development|heart development|hemopoiesis|metanephric glomerular mesangial cell development|monocyte chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|negative regulation of transcription, DNA-dependent|paracrine signaling|peptidyl-serine phosphorylation|peptidyl-tyrosine phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of calcium ion import|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of cyclin-dependent protein kinase activity|positive regulation of DNA biosynthetic process|positive regulation of DNA replication|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of glomerular filtration|positive regulation of glomerular mesangial cell proliferation|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent|reactive oxygen species metabolic process|transforming growth factor beta receptor signaling pathway basolateral plasma membrane|cell surface|endoplasmic reticulum lumen|extracellular region|Golgi membrane|platelet alpha granule lumen collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|superoxide-generating NADPH oxidase activator activity COL1A1/PDGFB(372) soft_tissue(372)|central_nervous_system(1) 373 Melanoma(58;0.04) Becaplermin(DB00102) ATCAAAGGAGCGGATCGAGTG 0.602000 T COL1A1 DFSP ENTHD1 150350 broad.mit.edu 37 22 40140075 40140075 + Missense_Mutation SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr22:40140075A>G uc003ayg.2 - 7 1684 c.1433T>C c.(1432-1434)GTG>GCG p.V478A NM_152512 NP_689725 Q8IYW4 ENTD1_HUMAN ENTH domain containing 1 478 ovary(2)|skin(1) 3 Melanoma(58;0.0749) ATCAGAAGACACTGGGCCCCT 0.408000 TTLL1 25809 broad.mit.edu 37 22 43442449 43442449 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr22:43442449G>A uc003bdi.2 - 10 1350 c.1109C>T c.(1108-1110)CCA>CTA p.P370L TTLL1_uc010gzh.2_Missense_Mutation_p.P341L|TTLL1_uc003bdj.2_Missense_Mutation_p.P256L|TTLL1_uc003bdh.2_Missense_Mutation_p.P332L NM_012263 NP_036395 O95922 TTLL1_HUMAN tubulin tyrosine ligase-like family, member 1 370 protein polyglutamylation cytoplasm|microtubule ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity skin(1) 1 Ovarian(80;0.0694) BRCA - Breast invasive adenocarcinoma(115;0.00461) TTCCTTAGGTGGCGACTTGTT 0.502000 PKDREJ 10343 broad.mit.edu 37 22 46657156 46657156 + Silent SNP C C A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr22:46657156C>A uc003bhh.2 - 1 2064 c.2064G>T c.(2062-2064)GTG>GTT p.V688V NM_006071 NP_006062 Q9NTG1 PKDRE_HUMAN receptor for egg jelly-like protein precursor 688 Extracellular (Potential).|REJ. acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity breast(3)|ovary(2) 5 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) AACTTGGTCCCACGGTGAAAC 0.398000 CELSR1 9620 broad.mit.edu 37 22 46760632 46760632 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr22:46760632C>T uc003bhw.1 - 33 8556 c.8556G>A c.(8554-8556)GGG>GGA p.G2852G NM_014246 NP_055061 Q9NYQ6 CELR1_HUMAN cadherin EGF LAG seven-pass G-type receptor 1 2852 Cytoplasmic (Potential). central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity lung(4)|breast(4)|pancreas(2)|skin(1) 11 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) CCACAGCGTCCCCTGAGGCAC 0.677000 TUBGCP6 85378 broad.mit.edu 37 22 50660233 50660233 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr22:50660233G>A uc003bkb.1 - 16 3067 c.2555C>T c.(2554-2556)TCG>TTG p.S852L TUBGCP6_uc003bka.1_5'UTR|TUBGCP6_uc010har.1_Missense_Mutation_p.S844L|TUBGCP6_uc010has.1_RNA|TUBGCP6_uc010hat.1_Missense_Mutation_p.S48L NM_020461 NP_065194 Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 852 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding ovary(2)|central_nervous_system(2) 4 all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) CCAGGCAGGCGAGTGTTGCTC 0.647000 TUBGCP6 85378 broad.mit.edu 37 22 50662832 50662832 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr22:50662832G>A uc003bkb.1 - 12 2595 c.2083C>T c.(2083-2085)CGG>TGG p.R695W TUBGCP6_uc003bka.1_5'Flank|TUBGCP6_uc010har.1_Missense_Mutation_p.R695W|TUBGCP6_uc010has.1_RNA|TUBGCP6_uc010hat.1_Translation_Start_Site|TUBGCP6_uc003bkd.1_Missense_Mutation_p.R49W NM_020461 NP_065194 Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 695 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding ovary(2)|central_nervous_system(2) 4 all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) AAGGCCATCCGTTCTGACATC 0.602000 TUBGCP6 85378 broad.mit.edu 37 22 50664481 50664481 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr22:50664481G>A uc003bkb.1 - 9 2343 c.1831C>T c.(1831-1833)CGG>TGG p.R611W TUBGCP6_uc010har.1_Missense_Mutation_p.R611W|TUBGCP6_uc010has.1_RNA|TUBGCP6_uc010hat.1_5'Flank|TUBGCP6_uc003bkd.1_5'UTR NM_020461 NP_065194 Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 611 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding ovary(2)|central_nervous_system(2) 4 all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) CTCCTCACCCGGGGGCAGCAG 0.597000 ITPR1 3708 broad.mit.edu 37 3 4816936 4816936 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr3:4816936G>A uc003bqa.2 + 44 6194 c.5846G>A c.(5845-5847)CGT>CAT p.R1949H ITPR1_uc010hca.1_Missense_Mutation_p.R1934H|ITPR1_uc011asu.1_Intron|ITPR1_uc003bqc.2_Missense_Mutation_p.R919H NM_001099952 NP_001093422 Q14643 ITPR1_HUMAN inositol 1,4,5-triphosphate receptor, type 1 1997 Cytoplasmic (Potential). activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1) 21 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) AACTTCCTCCGTTGCCAAAAT 0.483000 THUMPD3 25917 broad.mit.edu 37 3 9426229 9426229 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr3:9426229G>A uc003bro.3 + 10 1529 c.1381G>A c.(1381-1383)GTA>ATA p.V461I LOC440944_uc003brm.2_Intron|THUMPD3_uc003brn.3_Missense_Mutation_p.V461I NM_001114092 NP_001107564 Q9BV44 THUM3_HUMAN THUMP domain containing 3 461 methyltransferase activity|protein binding|RNA binding ovary(1) 1 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.101) AATGCGACACGTATGGCGAAA 0.418000 SATB1 6304 broad.mit.edu 37 3 18391065 18391065 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr3:18391065G>A uc003cbh.2 - 11 3624 c.1889C>T c.(1888-1890)ACG>ATG p.T630M SATB1_uc003cbi.2_Missense_Mutation_p.T662M|SATB1_uc003cbj.2_Missense_Mutation_p.T630M NM_002971 NP_002962 Q01826 SATB1_HUMAN special AT-rich sequence binding protein 1 630 cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter nuclear matrix|PML body double-stranded DNA binding|sequence-specific DNA binding skin(2)|ovary(1)|lung(1) 4 AGAGGCCACCGTGGGTTGCCG 0.502000 KCNH8 131096 broad.mit.edu 37 3 19389429 19389429 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr3:19389429C>T uc003cbk.1 + 5 978 c.783C>T c.(781-783)GAC>GAT p.D261D KCNH8_uc011awe.1_Silent_p.D261D|KCNH8_uc010hex.1_5'UTR NM_144633 NP_653234 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H, 261 Helical; Name=Segment S2; (Potential). integral to membrane two-component sensor activity lung(4)|ovary(1) 5 CCGTCAGTGACATTGCAGTGG 0.403000 KCNH8 131096 broad.mit.edu 37 3 19554720 19554720 + Nonsense_Mutation SNP G G T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr3:19554720G>T uc003cbk.1 + 13 2533 c.2338G>T c.(2338-2340)GAA>TAA p.E780* KCNH8_uc010hex.1_Nonsense_Mutation_p.E241* NM_144633 NP_653234 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H, 780 Cytoplasmic (Potential). integral to membrane two-component sensor activity lung(4)|ovary(1) 5 AACCAAGCAGGAAATTGACCC 0.478000 TGFBR2 7048 broad.mit.edu 37 3 30713880 30713880 + Missense_Mutation SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr3:30713880T>C uc003ceo.2 + 4 1587 c.1205T>C c.(1204-1206)CTG>CCG p.L402P TGFBR2_uc003cen.2_Missense_Mutation_p.L427P NM_003242 NP_003233 P37173 TGFR2_HUMAN transforming growth factor, beta receptor II 402 Protein kinase.|Cytoplasmic (Potential). activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|vasculogenesis caveola|external side of plasma membrane ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1) 26 GGGCTTTCCCTGCGTCTGGAC 0.562000 VILL 50853 broad.mit.edu 37 3 38045884 38045884 + Nonsense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr3:38045884G>A uc003chj.2 + 16 2230 c.1944G>A c.(1942-1944)TGG>TGA p.W648* VILL_uc003chl.2_Nonsense_Mutation_p.W648* NM_015873 NP_056957 O15195 VILL_HUMAN villin-like protein 648 Gelsolin-like 6. actin filament capping|cytoskeleton organization actin cytoskeleton actin binding|structural constituent of cytoskeleton 0 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) TGGACACCTGGCAGGAGGTAA 0.562000 OREG0015475 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) SCN5A 6331 broad.mit.edu 37 3 38591857 38591857 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr3:38591857G>A uc003cio.2 - 28 6200 c.6006C>T c.(6004-6006)GCC>GCT p.A2002A SCN5A_uc003cin.2_Silent_p.A2001A|SCN5A_uc003cil.3_Silent_p.A2002A|SCN5A_uc010hhi.2_Silent_p.A1984A|SCN5A_uc010hhk.2_Silent_p.A1969A|SCN5A_uc011ayr.1_Silent_p.A1948A NM_198056 NP_932173 Q14524 SCN5A_HUMAN voltage-gated sodium channel type V alpha 2002 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1) 9 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) GGGGGAAGTCGGCGAGATCTT 0.592000 NKTR 4820 broad.mit.edu 37 3 42674107 42674107 + Missense_Mutation SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr3:42674107A>G uc003clo.2 + 9 712 c.565A>G c.(565-567)AGG>GGG p.R189G NKTR_uc003clm.1_5'UTR|NKTR_uc003clp.2_5'UTR|NKTR_uc011azp.1_Missense_Mutation_p.R79G|NKTR_uc003clq.1_Missense_Mutation_p.R79G|NKTR_uc003clr.1_5'UTR|NKTR_uc003cls.2_5'UTR NM_005385 NP_005376 P30414 NKTR_HUMAN natural killer-tumor recognition sequence 189 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) TGAGAAAAAAAGGAAGAAACC 0.328000 CDCP1 64866 broad.mit.edu 37 3 45153659 45153659 + Nonsense_Mutation SNP C C A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr3:45153659C>A uc003com.2 - 3 706 c.571G>T c.(571-573)GGA>TGA p.G191* CDCP1_uc003con.2_Nonsense_Mutation_p.G191* NM_022842 NP_073753 Q9H5V8 CDCP1_HUMAN CUB domain-containing protein 1 isoform 1 191 Extracellular (Potential). extracellular region|integral to membrane|plasma membrane ovary(1)|central_nervous_system(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651) ATTTTCACTCCTTCTTGCATC 0.542000 LIMD1 8994 broad.mit.edu 37 3 45637136 45637136 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr3:45637136C>T uc003coq.2 + 1 814 c.765C>T c.(763-765)AGC>AGT p.S255S NM_014240 NP_055055 Q9UGP4 LIMD1_HUMAN LIM domains containing 1 255 cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex protein binding|zinc ion binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315) GTGGCCGCAGCAGCGAGAAGC 0.632000 LZTFL1 54585 broad.mit.edu 37 3 45877148 45877148 + Missense_Mutation SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr3:45877148T>C uc003cox.1 - 3 395 c.257A>G c.(256-258)CAG>CGG p.Q86R LZTFL1_uc003coy.1_Missense_Mutation_p.Q69R|LZTFL1_uc011bak.1_RNA NM_020347 NP_065080 Q9NQ48 LZTL1_HUMAN leucine zipper transcription factor-like 1 86 0 BRCA - Breast invasive adenocarcinoma(193;0.00867)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208) TGCAAACAGCTGTCGCAGAAG 0.413000 LTF 4057 broad.mit.edu 37 3 46497878 46497878 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr3:46497878G>A uc003cpq.2 - 3 256 c.218C>T c.(217-219)GCC>GTC p.A73V LTF_uc003fzr.2_Missense_Mutation_p.A29V|LTF_uc010hjh.2_Missense_Mutation_p.A73V|LTF_uc003cpr.2_Missense_Mutation_p.A60V NM_002343 NP_002334 P02788 TRFL_HUMAN lactotransferrin precursor 73 Transferrin-like 1. cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport extracellular region|stored secretory granule ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity central_nervous_system(2)|ovary(1)|lung(1) 4 all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089) Pefloxacin(DB00487) CACAGCATCGGCCCTGTTTTC 0.542000 KIF9 64147 broad.mit.edu 37 3 47277592 47277592 + Nonsense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr3:47277592G>A uc010hjp.2 - 20 2753 c.2149C>T c.(2149-2151)CAG>TAG p.Q717* KIF9_uc003cqx.2_Nonsense_Mutation_p.Q717*|KIF9_uc003cqy.2_Nonsense_Mutation_p.Q652*|KIF9_uc011bat.1_RNA|uc003cqw.1_RNA NM_001134878 NP_001128350 Q9HAQ2 KIF9_HUMAN kinesin family member 9 isoform 2 717 blood coagulation|microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity skin(1) 1 Acute lymphoblastic leukemia(5;0.164) BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) AGTGCCATCTGCATGTCCTCA 0.567000 ZNF589 51385 broad.mit.edu 37 3 48310025 48310025 + Missense_Mutation SNP G G T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr3:48310025G>T uc003csl.3 + 4 910 c.844G>T c.(844-846)GGG>TGG p.G282W ZNF589_uc010hjt.1_Missense_Mutation_p.G279W|ZNF589_uc003csn.2_RNA|ZNF589_uc011bbg.1_Intron|ZNF589_uc003csm.2_Intron NM_016089 NP_057173 Q86UQ0 ZN589_HUMAN zinc finger protein 589 282 C2H2-type 2. regulation of transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000649)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CGGAGAGTGTGGGCGAGGCTT 0.547000 MAPKAPK3 7867 broad.mit.edu 37 3 50683579 50683579 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr3:50683579G>A uc003day.1 + 10 1309 c.713G>A c.(712-714)GGC>GAC p.G238D MAPKAPK3_uc003daz.1_Missense_Mutation_p.G238D|MAPKAPK3_uc003dba.1_Missense_Mutation_p.G238D|MAPKAPK3_uc010hlr.1_Missense_Mutation_p.G238D NM_004635 NP_004626 Q16644 MAPK3_HUMAN mitogen-activated protein kinase-activated 238 Protein kinase. activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|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 kinase activity|protein serine/threonine kinase activity ovary(1)|central_nervous_system(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223) AGCCTTTGTGGCTTCCCACCC 0.607000 TLR9 54106 broad.mit.edu 37 3 52257585 52257585 + Silent SNP G G A rs140856643 byFrequency TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr3:52257585G>A uc003dda.1 - 2 1381 c.747C>T c.(745-747)CTC>CTT p.L249L TLR9_uc003ddb.2_Silent_p.L346L NM_017442 NP_059138 Q9NR96 TLR9_HUMAN toll-like receptor 9 isoform A precursor 249 LRR 8.|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) CGCCCACATCGAGCACACGCA 0.622000 NISCH 11188 broad.mit.edu 37 3 52523363 52523363 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr3:52523363G>A uc011beg.1 + 18 3197 c.3125G>A c.(3124-3126)CGT>CAT p.R1042H NISCH_uc003ded.3_Missense_Mutation_p.R1042H|NISCH_uc003dee.3_Missense_Mutation_p.R531H|NISCH_uc003deg.1_RNA|NISCH_uc003deh.3_5'Flank NM_007184 NP_009115 Q9Y2I1 NISCH_HUMAN nischarin 1042 apoptosis|cell communication cytosol|early endosome|plasma membrane|recycling endosome phosphatidylinositol binding|receptor activity ovary(3)|central_nervous_system(1) 4 BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577) AATGACCAGCGTCCCCAGGAG 0.343000 CACNA1D 776 broad.mit.edu 37 3 53766961 53766961 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr3:53766961G>A uc003dgv.3 + 19 2756 c.2593G>A c.(2593-2595)GCT>ACT p.A865T CACNA1D_uc003dgu.3_Missense_Mutation_p.A885T|CACNA1D_uc003dgy.3_Missense_Mutation_p.A865T|CACNA1D_uc003dgw.3_Missense_Mutation_p.A532T|CACNA1D_uc003dgx.1_Missense_Mutation_p.A13T NM_001128840 NP_001122312 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, 865 Cytoplasmic (Potential). axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) TGAAGGGAGCGCTTTCTTCAT 0.507000 CCDC66 285331 broad.mit.edu 37 3 56651334 56651334 + Nonsense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr3:56651334C>T uc003dhz.2 + 14 2125 c.2038C>T c.(2038-2040)CAG>TAG p.Q680* CCDC66_uc003dhy.2_Nonsense_Mutation_p.Q316*|CCDC66_uc003dhu.2_Nonsense_Mutation_p.Q646*|CCDC66_uc003dhx.2_RNA|CCDC66_uc003dia.2_Nonsense_Mutation_p.Q48* NM_001141947 NP_001135419 A2RUB6 CCD66_HUMAN coiled-coil domain containing 66 isoform 1 680 breast(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233) GTGTAATGACCAGTGTAATCA 0.353000 FLNB 2317 broad.mit.edu 37 3 58121816 58121816 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr3:58121816C>T uc003djj.2 + 28 4947 c.4782C>T c.(4780-4782)TAC>TAT p.Y1594Y FLNB_uc010hne.2_Silent_p.Y1625Y|FLNB_uc003djk.2_Silent_p.Y1594Y|FLNB_uc010hnf.2_Silent_p.Y1594Y|FLNB_uc003djl.2_Silent_p.Y1425Y|FLNB_uc003djm.2_Silent_p.Y1425Y NM_001457 NP_001448 O75369 FLNB_HUMAN filamin B isoform 2 1594 Filamin 14. 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) GAGTCACCTACGGGGGTGACG 0.537000 CNTN3 5067 broad.mit.edu 37 3 74418379 74418379 + Nonsense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr3:74418379G>A uc003dpm.1 - 7 987 c.907C>T c.(907-909)CGA>TGA p.R303* NM_020872 NP_065923 Q9P232 CNTN3_HUMAN contactin 3 precursor 303 Ig-like C2-type 3. cell adhesion anchored to membrane|plasma membrane protein binding breast(3)|ovary(1)|skin(1) 5 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) TTTTTTCCTCGTGAATTCTCA 0.398000 OR5K1 26339 broad.mit.edu 37 3 98188635 98188635 + Missense_Mutation SNP G G T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr3:98188635G>T uc003dsm.2 + 1 215 c.215G>T c.(214-216)TGC>TTC p.C72F NM_001004736 NP_001004736 Q8NHB7 OR5K1_HUMAN olfactory receptor, family 5, subfamily K, 72 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1) 1 GTGGATTCTTGCTGTGCCTGT 0.418000 PVRL3 25945 broad.mit.edu 37 3 110831167 110831167 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr3:110831167G>A uc003dxt.1 + 2 451 c.451G>A c.(451-453)GTT>ATT p.V151I PVRL3_uc003dxu.1_Missense_Mutation_p.V128I NM_015480 NP_056295 Q9NQS3 PVRL3_HUMAN poliovirus receptor-related 3 precursor 151 Extracellular (Potential).|Ig-like V-type. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane cell adhesion molecule binding|protein homodimerization activity upper_aerodigestive_tract(2) 2 CTGCAAAGCTGTTACATTCCC 0.363000 HCLS1 3059 broad.mit.edu 37 3 121350739 121350739 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr3:121350739C>T uc003eeh.3 - 14 1540 c.1415G>A c.(1414-1416)GGC>GAC p.G472D HCLS1_uc011bjj.1_Missense_Mutation_p.G435D NM_005335 NP_005326 P14317 HCLS1_HUMAN hematopoietic cell-specific Lyn substrate 1 472 SH3. erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus mitochondrion|nucleus|plasma membrane DNA binding|sequence-specific DNA binding transcription factor activity 0 GBM - Glioblastoma multiforme(114;0.0912) TCCAAAGTGGCCATGGCAACG 0.522000 CASR 846 broad.mit.edu 37 3 122002860 122002860 + Missense_Mutation SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr3:122002860A>G uc003eev.3 + 7 2431 c.2059A>G c.(2059-2061)AGC>GGC p.S687G CASR_uc003eew.3_Missense_Mutation_p.S697G NM_000388 NP_000379 P41180 CASR_HUMAN calcium-sensing receptor precursor 687 Helical; Name=3; (Potential). anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity ovary(4)|skin(2)|upper_aerodigestive_tract(1) 7 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) CTTTGGCATCAGCTTCGTGCT 0.617000 DTX3L 151636 broad.mit.edu 37 3 122284875 122284875 + Silent SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr3:122284875T>C uc003efk.2 + 2 446 c.357T>C c.(355-357)CAT>CAC p.H119H DTX3L_uc010hrj.2_Silent_p.H119H|PARP9_uc003eff.3_5'Flank|PARP9_uc010hri.2_5'Flank|PARP9_uc011bjs.1_5'Flank|PARP9_uc003efg.2_5'Flank|PARP9_uc003efi.2_5'Flank|PARP9_uc003efh.2_5'Flank|PARP9_uc003efj.2_5'Flank NM_138287 NP_612144 Q8TDB6 DTX3L_HUMAN deltex 3-like 119 histone monoubiquitination|response to DNA damage stimulus cytoplasm|nucleus histone binding|ubiquitin-protein ligase activity|zinc ion binding ovary(2)|lung(1)|breast(1) 4 GBM - Glioblastoma multiforme(114;0.0459) TGCATCAACATGAAGGACATA 0.458000 AMOTL2 51421 broad.mit.edu 37 3 134089854 134089854 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr3:134089854C>T uc003eqf.2 - 2 713 c.596G>A c.(595-597)CGG>CAG p.R199Q AMOTL2_uc003eqg.1_Missense_Mutation_p.R141Q|AMOTL2_uc003eqh.1_Missense_Mutation_p.R141Q NM_016201 NP_057285 Q9Y2J4 AMOL2_HUMAN angiomotin like 2 141 large_intestine(1) 1 GTCCTGCCTCCGACTGCCTCC 0.706000 NCK1 4690 broad.mit.edu 37 3 136664679 136664679 + Missense_Mutation SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr3:136664679A>G uc003erh.2 + 3 588 c.481A>G c.(481-483)ACT>GCT p.T161A NCK1_uc011bme.1_Missense_Mutation_p.T97A NM_006153 NP_006144 P16333 NCK1_HUMAN NCK adaptor protein 1 161 SH3 2. axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway cytosol|endoplasmic reticulum|nucleus cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity pancreas(1) 1 AAACTATGTAACTGAAGAAGG 0.463000 COMMD2 51122 broad.mit.edu 37 3 149459487 149459487 + Missense_Mutation SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr3:149459487T>C uc003exk.2 - 5 468 c.421A>G c.(421-423)AGG>GGG p.R141G COMMD2_uc003exj.1_5'Flank NM_016094 NP_057178 Q86X83 COMD2_HUMAN COMM domain containing 2 141 COMM. protein binding 0 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) ATCTGTTGCCTGAGACTTCTA 0.343000 P2RY1 5028 broad.mit.edu 37 3 152554180 152554180 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr3:152554180C>T uc003ezq.2 + 1 1445 c.609C>T c.(607-609)TAC>TAT p.Y203Y NM_002563 NP_002554 P47900 P2RY1_HUMAN purinergic receptor P2Y1 203 Extracellular (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled lung(1) 1 LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11) TCACCTGTTACGACACCACCT 0.537000 SLITRK3 22865 broad.mit.edu 37 3 164906366 164906366 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr3:164906366G>A uc003fej.3 - 2 2697 c.2253C>T c.(2251-2253)TGC>TGT p.C751C SLITRK3_uc003fek.2_Silent_p.C751C NM_014926 NP_055741 O94933 SLIK3_HUMAN slit and trk like 3 protein precursor 751 Cytoplasmic (Potential). integral to membrane ovary(6)|skin(3)|pancreas(1) 10 TGGGGTTGTTGCACATTTGGG 0.527000 HNSCC(40;0.11) BCHE 590 broad.mit.edu 37 3 165548346 165548346 + Missense_Mutation SNP T T G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr3:165548346T>G uc003fem.3 - 2 636 c.476A>C c.(475-477)AAG>ACG p.K159T BCHE_uc003fen.3_Intron NM_000055 NP_000046 P06276 CHLE_HUMAN butyrylcholinesterase precursor 159 choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic endoplasmic reticulum lumen|extracellular space|membrane acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding ovary(3)|pancreas(1) 4 Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116) AGCCAGAAACTTGCCATCATA 0.428000 MYNN 55892 broad.mit.edu 37 3 169497261 169497261 + Silent SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr3:169497261T>C uc003fft.2 + 3 1401 c.972T>C c.(970-972)CAT>CAC p.H324H MYNN_uc011bpm.1_Silent_p.H210H|MYNN_uc003ffu.2_Silent_p.H324H|MYNN_uc003ffv.2_Silent_p.H51H|MYNN_uc010hwo.2_Silent_p.H324H|MYNN_uc003ffw.1_RNA NM_018657 NP_061127 Q9NPC7 MYNN_HUMAN myoneurin 324 C2H2-type 1. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197) Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676) TGAGAATACATAAAGGAGTCA 0.448000 PLD1 5337 broad.mit.edu 37 3 171330108 171330108 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr3:171330108G>A uc003fhs.2 - 25 2959 c.2843C>T c.(2842-2844)GCT>GTT p.A948V PLD1_uc003fht.2_Missense_Mutation_p.A910V|PLD1_uc003fhu.3_Missense_Mutation_p.A242V NM_002662 NP_002653 Q13393 PLD1_HUMAN phospholipase D1 isoform a 948 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) AAACCGGCCAGCTTGGTACTC 0.522000 ACTL6A 86 broad.mit.edu 37 3 179305773 179305773 + Missense_Mutation SNP A A C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr3:179305773A>C uc003fjw.2 + 14 1438 c.1265A>C c.(1264-1266)CAG>CCG p.Q422P ACTL6A_uc003fjx.2_Missense_Mutation_p.Q380P|ACTL6A_uc003fjy.2_Missense_Mutation_p.Q380P NM_004301 NP_004292 O96019 ACL6A_HUMAN actin-like 6A isoform 1 422 chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex ATP binding|chromatin binding ovary(1) 1 all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191) OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169) GGAGGGAAGCAGTGTGTAGAA 0.368000 KLHL6 89857 broad.mit.edu 37 3 183273234 183273234 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr3:183273234C>T uc003flr.2 - 1 266 c.208G>A c.(208-210)GCT>ACT p.A70T KLHL6_uc003fls.1_RNA|KLHL6_uc003flt.1_Missense_Mutation_p.A68T NM_130446 NP_569713 Q8WZ60 KLHL6_HUMAN kelch-like 6 70 haematopoietic_and_lymphoid_tissue(2)|ovary(1) 3 all_cancers(143;9.2e-12)|Ovarian(172;0.0172) all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22) TCTGTCAGAGCGTTTTCCATT 0.502000 EHHADH 1962 broad.mit.edu 37 3 184922258 184922258 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr3:184922258C>T uc003fpf.2 - 6 883 c.856G>A c.(856-858)GGA>AGA p.G286R EHHADH_uc011brs.1_Missense_Mutation_p.G190R NM_001966 NP_001957 Q08426 ECHP_HUMAN enoyl-Coenzyme A, hydratase/3-hydroxyacyl 286 3-hydroxyacyl-CoA dehydrogenase. peroxisome 3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity ovary(3) 3 all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21) NADH(DB00157) CACGATGCTCCGGAGGGAGTT 0.488000 LPP 4026 broad.mit.edu 37 3 188242523 188242523 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr3:188242523G>A uc003frs.1 + 5 623 c.377G>A c.(376-378)AGC>AAC p.S126N LPP_uc011bsg.1_Missense_Mutation_p.S126N|LPP_uc011bsi.1_Missense_Mutation_p.S126N|LPP_uc003frt.2_Missense_Mutation_p.S126N NM_005578 NP_005569 Q93052 LPP_HUMAN LIM domain containing preferred translocation 126 Pro-rich. cell adhesion cytoplasm|focal adhesion|nucleus protein binding|zinc ion binding HMGA2/LPP(161) soft_tissue(134)|bone(27)|lung(2)|ovary(1)|breast(1) 165 all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088) all_lung(153;0.00139)|Lung NSC(153;0.00202) GBM - Glioblastoma multiforme(93;0.00602) TCCTTGACCAGCATCTTGGCT 0.542000 T HMGA2|MLL|C12orf9 lipoma|leukemia CCDC50 152137 broad.mit.edu 37 3 191097971 191097971 + Nonsense_Mutation SNP G G T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr3:191097971G>T uc003fsw.2 + 6 1062 c.472G>T c.(472-474)GAA>TAA p.E158* CCDC50_uc003fsv.2_Nonsense_Mutation_p.E334* NM_174908 NP_777568 Q8IVM0 CCD50_HUMAN Ymer protein short isoform 158 cytoplasm protein binding 0 all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221) LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06) GBM - Glioblastoma multiforme(46;0.000136) AGTGATGAAAGAAGCTGTATC 0.348000 HTT 3064 broad.mit.edu 37 4 3230455 3230455 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr4:3230455G>A uc011bvq.1 + 59 8113 c.7968G>A c.(7966-7968)ACG>ACA p.T2656T NM_002111 NP_002102 P42858 HD_HUMAN huntingtin 2654 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding skin(2)|ovary(1)|lung(1) 4 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) CACCACCCACGTCTCCAGTCA 0.388000 EVC 2121 broad.mit.edu 37 4 5733298 5733298 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr4:5733298C>T uc003gil.1 + 4 715 c.531C>T c.(529-531)AGC>AGT p.S177S EVC_uc003gim.1_RNA NM_153717 NP_714928 P57679 EVC_HUMAN Ellis van Creveld syndrome protein 177 muscle organ development integral to membrane ovary(1)|skin(1) 2 Myeloproliferative disorder(84;0.117) CCTCATCCAGCGTCCACTCGG 0.632000 CPZ 8532 broad.mit.edu 37 4 8603164 8603164 + Missense_Mutation SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr4:8603164T>C uc003glm.2 + 3 562 c.436T>C c.(436-438)TGC>CGC p.C146R CPZ_uc003gll.2_RNA|CPZ_uc003gln.2_Missense_Mutation_p.C9R|CPZ_uc003glo.2_Missense_Mutation_p.C135R|CPZ_uc003glp.2_RNA NM_001014447 NP_001014447 Q66K79 CBPZ_HUMAN carboxypeptidase Z isoform 1 146 FZ. proteolysis|Wnt receptor signaling pathway proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding ovary(2)|pancreas(1) 3 CTTCCTTGACTGCCACCGCTA 0.657000 DRD5 1816 broad.mit.edu 37 4 9783746 9783746 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr4:9783746G>A uc003gmb.3 + 1 489 c.93G>A c.(91-93)GCG>GCA p.A31A NM_000798 NP_000789 P21918 DRD5_HUMAN dopamine receptor D5 31 Extracellular (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) GGGGCTCGGCGGGGGCACCGC 0.697000 CC2D2A 57545 broad.mit.edu 37 4 15569074 15569074 + Missense_Mutation SNP C C A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr4:15569074C>A uc010idv.2 + 26 3502 c.3257C>A c.(3256-3258)CCA>CAA p.P1086Q CC2D2A_uc003gnx.2_Missense_Mutation_p.P1037Q|CC2D2A_uc003gnz.1_RNA|CC2D2A_uc003goa.1_RNA NM_001080522 NP_001073991 Q9P2K1 C2D2A_HUMAN coiled-coil and C2 domain containing 2A isoform 1086 C2. cell projection organization cilium|microtubule basal body pancreas(2)|ovary(1) 3 ACGTACAGCCCAACCCACAAT 0.478000 TBC1D1 23216 broad.mit.edu 37 4 38097694 38097694 + Missense_Mutation SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr4:38097694A>G uc003gtb.2 + 14 2724 c.2381A>G c.(2380-2382)CAC>CGC p.H794R TBC1D1_uc011byd.1_Missense_Mutation_p.H888R|TBC1D1_uc010ifd.2_Missense_Mutation_p.H581R NM_015173 NP_055988 Q86TI0 TBCD1_HUMAN TBC1 (tre-2/USP6, BUB2, cdc16) domain family, 794 nucleus Rab GTPase activator activity ovary(1) 1 GAAAAAATGCACTCGGCTGTT 0.408000 EPHA5 2044 broad.mit.edu 37 4 66189927 66189927 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr4:66189927G>A uc003hcy.2 - 18 3212 c.3019C>T c.(3019-3021)CGG>TGG p.R1007W EPHA5_uc003hcx.2_Missense_Mutation_p.R939W|EPHA5_uc003hcz.2_Missense_Mutation_p.R985W|EPHA5_uc011cah.1_Missense_Mutation_p.R1008W|EPHA5_uc011cai.1_Missense_Mutation_p.R986W NM_004439 NP_004430 P54756 EPHA5_HUMAN ephrin receptor EphA5 isoform a precursor 1007 Cytoplasmic (Potential).|SAM. 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 p.R1007Q(1) lung(19)|stomach(2)|ovary(2)|central_nervous_system(1) 24 ACTCCAAGCCGTCTCAAATCC 0.438000 TSP Lung(17;0.13) NPFFR2 10886 broad.mit.edu 37 4 73012934 73012934 + Missense_Mutation SNP T T G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr4:73012934T>G uc003hgg.2 + 4 1072 c.974T>G c.(973-975)CTG>CGG p.L325R NPFFR2_uc010iig.1_Missense_Mutation_p.L107R|NPFFR2_uc003hgi.2_Missense_Mutation_p.L226R|NPFFR2_uc003hgh.2_Missense_Mutation_p.L223R|NPFFR2_uc003hgj.2_RNA NM_004885 NP_004876 Q9Y5X5 NPFF2_HUMAN neuropeptide FF receptor 2 isoform 1 325 Helical; Name=5; (Potential). detection of abiotic stimulus actin cytoskeleton|integral to plasma membrane neuropeptide receptor activity ovary(2)|central_nervous_system(1) 3 Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138) ACCACTGTGCTGTTTGCCAAC 0.502000 USO1 8615 broad.mit.edu 37 4 76731599 76731599 + Missense_Mutation SNP G G T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr4:76731599G>T uc003hiu.2 + 21 2665 c.2490G>T c.(2488-2490)GAG>GAT p.E830D USO1_uc003hiv.2_Missense_Mutation_p.E672D|USO1_uc003hiw.2_Missense_Mutation_p.E665D NM_003715 NP_003706 O60763 USO1_HUMAN USO1 homolog, vesicle docking protein 830 Potential. intracellular protein transport|vesicle fusion with Golgi apparatus cytosol|Golgi membrane protein binding|protein transporter activity ovary(2)|central_nervous_system(1) 3 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) AATCAGTTGAGGTACAAGGAG 0.338000 NAAA 27163 broad.mit.edu 37 4 76842262 76842262 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr4:76842262C>T uc003hjb.2 - 6 745 c.681G>A c.(679-681)TCG>TCA p.S227S NAAA_uc003hja.2_Silent_p.S227S|NAAA_uc003hjc.3_Silent_p.S227S|NAAA_uc003hjd.3_RNA|NAAA_uc011cbq.1_Silent_p.S126S NM_014435 NP_055250 Q02083 NAAA_HUMAN N-acylethanolamine acid amidase isoform 1 227 lipid metabolic process lysosome hydrolase activity skin(1) 1 CGAAGTTTTCCGACTCACTCA 0.517000 FRAS1 80144 broad.mit.edu 37 4 79328882 79328882 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr4:79328882G>A uc003hlb.2 + 31 4635 c.4195G>A c.(4195-4197)GAT>AAT p.D1399N FRAS1_uc003hkw.2_Missense_Mutation_p.D1399N NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 1398 CSPG 3.|Extracellular (Potential). cell communication integral to membrane|plasma membrane metal ion binding large_intestine(5) 5 GCACCTGCCTGATGGGAGGAC 0.587000 HNRPDL 9987 broad.mit.edu 37 4 83347709 83347709 + Missense_Mutation SNP C C A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr4:83347709C>A uc003hmr.2 - 6 1634 c.1099G>T c.(1099-1101)GGT>TGT p.G367C HNRPDL_uc003hmq.2_RNA|HNRPDL_uc003hms.2_RNA|HNRPDL_uc003hmt.2_Intron NM_031372 NP_112740 O14979 HNRDL_HUMAN heterogeneous nuclear ribonucleoprotein D-like 367 Tyr-rich.|Necessary for interaction with TNPO1.|Gly-rich. regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent cytoplasm|heterogeneous nuclear ribonucleoprotein complex double-stranded DNA binding|nucleotide binding|poly(A) RNA binding|protein binding|single-stranded DNA binding skin(1) 1 Hepatocellular(203;0.114) TTTTGATCACCACCATAGGCA 0.383000 ARHGAP24 83478 broad.mit.edu 37 4 86915861 86915861 + Missense_Mutation SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr4:86915861A>G uc003hpk.2 + 9 1503 c.1054A>G c.(1054-1056)AAA>GAA p.K352E ARHGAP24_uc003hpl.2_Missense_Mutation_p.K257E|ARHGAP24_uc010ikf.2_Missense_Mutation_p.K267E|ARHGAP24_uc003hpm.2_Missense_Mutation_p.K259E NM_001025616 NP_001020787 Q8N264 RHG24_HUMAN Rho GTPase activating protein 24 isoform 1 352 angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell projection|cytoskeleton|cytosol|focal adhesion GTPase activator activity|protein binding 0 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.000571) AATTCAGAAGAAAGCCACCAT 0.473000 IBSP 3381 broad.mit.edu 37 4 88733020 88733020 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr4:88733020C>T uc003hqx.3 + 7 1010 c.912C>T c.(910-912)GGC>GGT p.G304G NM_004967 NP_004958 P21815 SIAL_HUMAN integrin-binding sialoprotein precursor 304 biomineral tissue development|cell adhesion|ossification 0 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154) AAGGACAAGGCTACGATGGCT 0.463000 CXXC4 80319 broad.mit.edu 37 4 105412446 105412446 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr4:105412446G>A uc003hxg.2 - 1 22 c.7C>T c.(7-9)CAC>TAC p.H3Y uc003hxh.1_Intron|CXXC4_uc010ilo.2_Intron NM_025212 NP_079488 Q9H2H0 CXXC4_HUMAN CXXC finger 4 3 negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis DNA binding|PDZ domain binding|zinc ion binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(123;3.05e-08) TCGTTTCGGTGGTGCATGCTG 0.383000 COL25A1 84570 broad.mit.edu 37 4 110223177 110223177 + Translation_Start_Site SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr4:110223177G>A uc003hze.1 - 2 530 c.-1C>T c.(-3-1)CACGA>CATGA COL25A1_uc003hzg.2_Translation_Start_Site|COL25A1_uc003hzh.1_Translation_Start_Site NM_198721 NP_942014 Q9BXS0 COPA1_HUMAN collagen, type XXV, alpha 1 isoform 1 collagen|extracellular space beta-amyloid binding|heparin binding ovary(2) 2 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000173) CAGCAGCATCGTGGCGGGGTC 0.602000 FAT4 79633 broad.mit.edu 37 4 126370366 126370366 + Missense_Mutation SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr4:126370366A>G uc003ifj.3 + 9 8195 c.8195A>G c.(8194-8196)GAC>GGC p.D2732G FAT4_uc011cgp.1_Missense_Mutation_p.D1030G|FAT4_uc003ifi.1_Missense_Mutation_p.D210G NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 2732 Cadherin 26.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 AGACCTTTGGACAGGGAAAAA 0.358000 FAT4 79633 broad.mit.edu 37 4 126412392 126412392 + Silent SNP C C A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr4:126412392C>A uc003ifj.3 + 17 14415 c.14415C>A c.(14413-14415)ATC>ATA p.I4805I FAT4_uc011cgp.1_Silent_p.I3046I|FAT4_uc003ifi.1_Silent_p.I2282I NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 4805 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 ACCCAAGTATCTGCAGTGCAG 0.522000 PCDH10 57575 broad.mit.edu 37 4 134071731 134071731 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr4:134071731G>A uc003iha.2 + 1 1262 c.436G>A c.(436-438)GCA>ACA p.A146T uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.A146T NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 146 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) CTTGGAGAGCGCATTCGACCC 0.617000 GAB1 2549 broad.mit.edu 37 4 144359520 144359520 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr4:144359520G>A uc003ije.2 + 4 1321 c.962G>A c.(961-963)CGA>CAA p.R321Q GAB1_uc003ijd.2_Missense_Mutation_p.R321Q|GAB1_uc011chq.1_Missense_Mutation_p.R218Q NM_002039 NP_002030 Q13480 GAB1_HUMAN GRB2-associated binding protein 1 isoform b 321 cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway cytosol SH3/SH2 adaptor activity breast(2)|lung(1)|skin(1) 4 all_hematologic(180;0.158) CAGATTCCACGAACATTTCCA 0.453000 LRBA 987 broad.mit.edu 37 4 151408925 151408925 + Silent SNP A A C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr4:151408925A>C uc010ipj.2 - 43 7017 c.6543T>G c.(6541-6543)CCT>CCG p.P2181P LRBA_uc003ils.3_Silent_p.P71P|LRBA_uc003ilt.3_Silent_p.P829P|LRBA_uc003ilu.3_Silent_p.P2170P NM_006726 NP_006717 P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and 2181 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding ovary(3)|breast(3)|skin(1) 7 all_hematologic(180;0.151) CGCCAACACGAGGTAGATAGT 0.343000 ETFDH 2110 broad.mit.edu 37 4 159624651 159624651 + Missense_Mutation SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr4:159624651A>G uc003iqb.2 + 10 1525 c.1193A>G c.(1192-1194)AAA>AGA p.K398R ETFDH_uc011cjg.1_Missense_Mutation_p.K351R|ETFDH_uc010iqr.2_5'UTR|ETFDH_uc011cjh.1_Missense_Mutation_p.K337R|ETFDH_uc010iqs.2_Missense_Mutation_p.K320R NM_004453 NP_004444 Q16134 ETFD_HUMAN electron-transferring-flavoprotein dehydrogenase 398 fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport integral to mitochondrial inner membrane|mitochondrial matrix 4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding large_intestine(2)|skin(1) 3 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0172) CCCAAGATCAAAGGTACTCAC 0.343000 NPY5R 4889 broad.mit.edu 37 4 164272323 164272323 + Missense_Mutation SNP C C A rs74555158 TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr4:164272323C>A uc003iqn.2 + 4 1080 c.898C>A c.(898-900)CCA>ACA p.P300T NM_006174 NP_006165 Q15761 NPY5R_HUMAN neuropeptide Y receptor Y5 300 Cytoplasmic (Potential). cardiac left ventricle morphogenesis|outflow tract morphogenesis integral to plasma membrane lung(6)|skin(1) 7 all_hematologic(180;0.166) Prostate(90;0.109) GTTACCTGCTCCAGAAAGACC 0.428000 NPY5R 4889 broad.mit.edu 37 4 164272327 164272327 + Missense_Mutation SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr4:164272327A>G uc003iqn.2 + 4 1084 c.902A>G c.(901-903)GAA>GGA p.E301G NM_006174 NP_006165 Q15761 NPY5R_HUMAN neuropeptide Y receptor Y5 301 Cytoplasmic (Potential). cardiac left ventricle morphogenesis|outflow tract morphogenesis integral to plasma membrane lung(6)|skin(1) 7 all_hematologic(180;0.166) Prostate(90;0.109) CCTGCTCCAGAAAGACCTTCT 0.433000 SH3RF1 57630 broad.mit.edu 37 4 170057513 170057513 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr4:170057513G>A uc003isa.1 - 5 1359 c.1024C>T c.(1024-1026)CGG>TGG p.R342W SH3RF1_uc010irc.1_Missense_Mutation_p.T64M NM_020870 NP_065921 Q7Z6J0 SH3R1_HUMAN SH3 domain containing ring finger 1 342 Golgi apparatus|lamellipodium|perinuclear region of cytoplasm ligase activity|zinc ion binding breast(2)|lung(1) 3 Prostate(90;0.00267)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0287) TCGCTGATCCGTGCAGCAGCA 0.542000 AHRR 57491 broad.mit.edu 37 5 433983 433983 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr5:433983G>A uc003jav.2 + 12 1238 c.1194G>A c.(1192-1194)GAG>GAA p.E398E AHRR_uc003jaw.2_Silent_p.E376E|AHRR_uc010isy.2_Silent_p.E226E|AHRR_uc010isz.2_Silent_p.E376E|AHRR_uc003jax.2_Silent_p.E139E|AHRR_uc003jay.2_Silent_p.E236E|AHRR_uc003jaz.2_5'UTR NM_020731 NP_065782 A9YTQ3 AHRR_HUMAN arylhydrocarbon receptor repressor 380 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(2) 2 Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863) GGGAGGAGGAGCAGCACAGGA 0.632000 LPCAT1 79888 broad.mit.edu 37 5 1501615 1501615 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr5:1501615G>A uc003jcm.2 - 2 356 c.239C>T c.(238-240)GCG>GTG p.A80V NM_024830 NP_079106 Q8NF37 PCAT1_HUMAN lysophosphatidylcholine acyltransferase 1 80 Lumenal (Potential). phospholipid biosynthetic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane 1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534) GBM - Glioblastoma multiforme(108;0.156) TTCCTTCTCCGCAGAGCCCAG 0.677000 IRX1 79192 broad.mit.edu 37 5 3600194 3600194 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr5:3600194G>A uc003jde.2 + 2 1184 c.1132G>A c.(1132-1134)GCA>ACA p.A378T NM_024337 NP_077313 P78414 IRX1_HUMAN iroquois homeobox protein 1 378 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|pancreas(1) 2 GACCAACAGCGCATTCCTCGC 0.577000 TRIO 7204 broad.mit.edu 37 5 14485239 14485239 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr5:14485239C>T uc003jff.2 + 47 6725 c.6719C>T c.(6718-6720)TCG>TTG p.S2240L TRIO_uc003jfg.2_RNA|TRIO_uc003jfh.1_Missense_Mutation_p.S1889L NM_007118 NP_009049 O75962 TRIO_HUMAN triple functional domain (PTPRF interacting) 2240 PH 2. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1) 18 Lung NSC(4;0.000742) GCTCTGACATCGAGGACGGGT 0.358000 TRIO 7204 broad.mit.edu 37 5 14504593 14504593 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr5:14504593G>A uc003jff.2 + 55 8509 c.8503G>A c.(8503-8505)GAC>AAC p.D2835N TRIO_uc003jfg.2_RNA NM_007118 NP_009049 O75962 TRIO_HUMAN triple functional domain (PTPRF interacting) 2835 Protein kinase. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1) 18 Lung NSC(4;0.000742) GATGAAGCGCGACCAGGTCAC 0.532000 RXFP3 51289 broad.mit.edu 37 5 33937043 33937043 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr5:33937043G>A uc003jic.1 + 1 555 c.198G>A c.(196-198)CCG>CCA p.P66P NM_016568 NP_057652 Q9NSD7 RL3R1_HUMAN relaxin/insulin-like family peptide receptor 3 66 Extracellular (Potential). integral to plasma membrane N-formyl peptide receptor activity upper_aerodigestive_tract(1) 1 GACATCCCCCGGGCAGCGGCG 0.706000 FYB 2533 broad.mit.edu 37 5 39153610 39153610 + Missense_Mutation SNP G G T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr5:39153610G>T uc003jls.2 - 2 1299 c.1232C>A c.(1231-1233)CCA>CAA p.P411Q FYB_uc003jlt.2_Missense_Mutation_p.P411Q|FYB_uc003jlu.2_Missense_Mutation_p.P411Q|FYB_uc011cpl.1_Missense_Mutation_p.P421Q NM_199335 NP_955367 O15117 FYB_HUMAN FYN binding protein (FYB-120/130) isoform 2 411 Interaction with SKAP1. cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway cytosol|nucleus protein binding ovary(2) 2 all_lung(31;0.000343) Epithelial(62;0.235) TGGTTGTGATGGGTGAGATGC 0.493000 DAB2 1601 broad.mit.edu 37 5 39377057 39377057 + Missense_Mutation SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr5:39377057A>G uc003jlx.2 - 12 2363 c.1832T>C c.(1831-1833)ATG>ACG p.M611T DAB2_uc003jlw.2_Missense_Mutation_p.M590T NM_001343 NP_001334 P98082 DAB2_HUMAN disabled homolog 2 611 cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway clathrin coated vesicle membrane|coated pit protein C-terminus binding kidney(2)|skin(1) 3 all_lung(31;0.000197) Epithelial(62;0.137) AGAGGAGTGCATGGATGGGGG 0.557000 OREG0016586 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) NNT 23530 broad.mit.edu 37 5 43659360 43659360 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr5:43659360G>A uc003joe.2 + 17 2797 c.2542G>A c.(2542-2544)GCA>ACA p.A848T NNT_uc003jof.2_Missense_Mutation_p.A848T NM_012343 NP_036475 Q13423 NNTM_HUMAN nicotinamide nucleotide transhydrogenase 848 Helical; (Potential). tricarboxylic acid cycle integral to membrane|mitochondrial respiratory chain NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding ovary(2)|central_nervous_system(1) 3 Lung NSC(6;2.58e-06) NADH(DB00157) GGCCCTGTGTGCAGAGGGCTT 0.517000 HTR1A 3350 broad.mit.edu 37 5 63257457 63257457 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr5:63257457G>A uc011cqt.1 - 1 90 c.90C>T c.(88-90)GAC>GAT p.D30D NM_000524 NP_000515 P08908 5HT1A_HUMAN 5-hydroxytryptamine (serotonin) receptor 1A 30 Extracellular (By similarity). behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity ovary(2)|pancreas(2) 4 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) TGACGGTCACGTCGGAGATAC 0.627000 CCNB1 891 broad.mit.edu 37 5 68470196 68470196 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr5:68470196C>T uc003jvm.2 + 5 842 c.665C>T c.(664-666)ACC>ATC p.T222I CCNB1_uc011crd.1_Missense_Mutation_p.T222I|CCNB1_uc010ixb.2_Missense_Mutation_p.T222I NM_031966 NP_114172 P14635 CCNB1_HUMAN cyclin B1 222 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitotic cell cycle spindle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|mitotic spindle stabilization|positive regulation of attachment of spindle microtubules to kinetochore|positive regulation of mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of cyclin-dependent protein kinase activity condensed nuclear chromosome outer kinetochore|cytosol|microtubule organizing center|nucleoplasm|spindle pole 0 Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177) TTGCAGGAGACCATGTACATG 0.438000 ANKRA2 57763 broad.mit.edu 37 5 72857049 72857049 + Silent SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr5:72857049A>G uc003kcu.1 - 3 1000 c.354T>C c.(352-354)TCT>TCC p.S118S ANKRA2_uc003kcv.2_Silent_p.S118S NM_023039 NP_075526 Q9H9E1 ANRA2_HUMAN ankyrin repeat, family A (RFXANK-like), 2 118 cytoskeleton|cytosol|membrane low-density lipoprotein particle binding 0 Lung NSC(167;0.0378)|Ovarian(174;0.0908) OV - Ovarian serous cystadenocarcinoma(47;3.71e-54) GCTTTGTTGTAGAGGGGGTGT 0.388000 DMGDH 29958 broad.mit.edu 37 5 78328527 78328527 + Silent SNP G G A rs112410293 TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr5:78328527G>A uc003kfs.2 - 9 1506 c.1500C>T c.(1498-1500)GGC>GGT p.G500G DMGDH_uc011cte.1_Silent_p.G350G|DMGDH_uc011ctf.1_Silent_p.G299G|DMGDH_uc011ctg.1_Silent_p.G120G NM_013391 NP_037523 Q9UI17 M2GD_HUMAN dimethylglycine dehydrogenase precursor 500 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) GAGTGTCCTGGCCTGGTTTGT 0.547000 HOMER1 9456 broad.mit.edu 37 5 78693429 78693429 + Missense_Mutation SNP G G T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr5:78693429G>T uc003kfy.2 - 7 1819 c.716C>A c.(715-717)GCA>GAA p.A239E HOMER1_uc010jab.2_Intron|HOMER1_uc010jac.2_Missense_Mutation_p.A109E|HOMER1_uc010jad.2_Missense_Mutation_p.A65E NM_004272 NP_004263 Q86YM7 HOME1_HUMAN homer 1 239 Potential. activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane 0 Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36) TACTGCATTTGCTTGGCTACT 0.328000 VCAN 1462 broad.mit.edu 37 5 82835533 82835533 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr5:82835533G>A uc003kii.3 + 8 7067 c.6711G>A c.(6709-6711)CCG>CCA p.P2237P VCAN_uc003kij.3_Silent_p.P1250P|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Silent_p.P901P NM_004385 NP_004376 P13611 CSPG2_HUMAN versican isoform 1 precursor 2237 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding ovary(7)|skin(6)|lung(2)|central_nervous_system(1) 16 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) AACATTTTCCGAAAGGCATGA 0.383000 CCNH 902 broad.mit.edu 37 5 86695286 86695286 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr5:86695286C>T uc003kjb.2 - 7 1029 c.797G>A c.(796-798)AGA>AAA p.R266K CCNH_uc003kiy.1_RNA|CCNH_uc003kiz.1_Missense_Mutation_p.R213K|CCNH_uc003kja.2_Missense_Mutation_p.R213K NM_001239 NP_001230 P51946 CCNH_HUMAN cyclin H 266 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 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 cyclin-dependent protein kinase activating kinase holoenzyme complex|holo TFIIH complex protein kinase binding ovary(2)|kidney(1) 3 all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423) OV - Ovarian serous cystadenocarcinoma(54;9.01e-39)|Epithelial(54;5.08e-33)|all cancers(79;4.28e-28) TTCTTCAGATCTGGGTGGTTC 0.383000 Direct_reversal_of_damage|NER CAMK4 814 broad.mit.edu 37 5 110809009 110809009 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr5:110809009C>T uc011cvj.1 + 9 725 c.626C>T c.(625-627)GCA>GTA p.A209V CAMK4_uc003kpf.2_Missense_Mutation_p.A209V|CAMK4_uc010jbv.2_Missense_Mutation_p.A12V NM_001744 NP_001735 Q16566 KCC4_HUMAN calcium/calmodulin-dependent protein kinase IV 209 Protein kinase. activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission cytosol|nucleoplasm ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity ovary(3)|lung(2) 5 all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109) TTTTCTGCAGCACCTGAAATT 0.318000 APC 324 broad.mit.edu 37 5 112162834 112162834 + Nonsense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr5:112162834C>T uc010jby.2 + 12 1818 c.1438C>T c.(1438-1440)CAA>TAA p.Q480* APC_uc011cvt.1_Nonsense_Mutation_p.Q462*|APC_uc003kpz.3_Nonsense_Mutation_p.Q480*|APC_uc003kpy.3_Nonsense_Mutation_p.Q480*|APC_uc010jbz.2_Nonsense_Mutation_p.Q197*|APC_uc010jca.2_Intron NM_001127511 NP_001120983 P25054 APC_HUMAN adenomatous polyposis coli 480 Leu-rich.|ARM 1. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.?(1) large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1) 2515 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) AGAATTATTGCAAGTGGACTG 0.378000 12 D|Mis|N|F|S colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome TSP Lung(16;0.13) PGGT1B 5229 broad.mit.edu 37 5 114588851 114588851 + Missense_Mutation SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr5:114588851A>G uc003kqw.3 - 2 263 c.242T>C c.(241-243)GTC>GCC p.V81A PGGT1B_uc003kqx.3_5'UTR|PGGT1B_uc010jch.2_Missense_Mutation_p.V81A NM_005023 NP_005014 P53609 PGTB1_HUMAN geranylgeranyltransferase type 1 beta 81 protein geranylgeranylation CAAX-protein geranylgeranyltransferase complex CAAX-protein geranylgeranyltransferase activity 0 all_cancers(142;0.000523)|all_epithelial(76;6.45e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195) Epithelial(69;2.95e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.98e-08)|all cancers(49;3.1e-06) Pravastatin(DB00175) TGTGGGAAGGACCTGCAGGGA 0.294000 ADAMTS19 171019 broad.mit.edu 37 5 128984551 128984551 + Missense_Mutation SNP T T A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr5:128984551T>A uc003kvb.1 + 13 2046 c.2046T>A c.(2044-2046)AAT>AAA p.N682K ADAMTS19_uc010jdh.1_RNA NM_133638 NP_598377 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 682 TSP type-1 1. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(5)|breast(2)|lung(1)|skin(1) 9 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) TATGTGAGAATCCACCTTGTC 0.393000 CHSY3 337876 broad.mit.edu 37 5 129243994 129243994 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr5:129243994G>A uc003kvd.2 + 2 1027 c.1027G>A c.(1027-1029)GTG>ATG p.V343M NM_175856 NP_787052 Q70JA7 CHSS3_HUMAN chondroitin sulfate synthase 3 343 Lumenal (Potential). Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity ovary(2)|pancreas(1) 3 all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.136) TCATGAGGATGTGGAAGTAGG 0.468000 P4HA2 8974 broad.mit.edu 37 5 131539797 131539797 + Missense_Mutation SNP C C T rs147398523 by1000genomes TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr5:131539797C>T uc003kwh.2 - 9 1693 c.1129G>A c.(1129-1131)GCC>ACC p.A377T P4HA2_uc003kwg.2_Missense_Mutation_p.A377T|P4HA2_uc003kwi.2_Missense_Mutation_p.A377T|P4HA2_uc003kwk.2_Missense_Mutation_p.A377T|P4HA2_uc003kwl.2_Missense_Mutation_p.A377T|P4HA2_uc003kwj.2_Missense_Mutation_p.A377T NM_004199 NP_004190 O15460 P4HA2_HUMAN prolyl 4-hydroxylase, alpha II subunit isoform 1 377 endoplasmic reticulum lumen electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding 0 all_cancers(142;0.103)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Proline(DB00172)|Succinic acid(DB00139) CGGTAGCTGGCGACAGTGAGG 0.527000 TIFAB 497189 broad.mit.edu 37 5 134785283 134785283 + Missense_Mutation SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr5:134785283A>G uc003law.3 - 2 548 c.347T>C c.(346-348)GTA>GCA p.V116A C5orf20_uc003lav.2_5'Flank NM_001099221 NP_001092691 Q6ZNK6 TIFAB_HUMAN TIFA-related protein TIFAB 116 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GCCTTCTTCTACGCGAACCAG 0.552000 PCDHA10 56139 broad.mit.edu 37 5 140237829 140237829 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr5:140237829G>A uc003lhx.2 + 1 2196 c.2196G>A c.(2194-2196)CCG>CCA p.P732P 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_uc011dad.1_Silent_p.P732P NM_018901 NP_061724 Q9Y5I2 PCDAA_HUMAN protocadherin alpha 10 isoform 1 precursor 732 PXXP 1.|6 X 4 AA repeats of P-X-X-P.|Cytoplasmic (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding ovary(2)|skin(2)|breast(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CATGTGGGCCGGTGAAGCCCA 0.682000 PCDHA11 56138 broad.mit.edu 37 5 140248933 140248933 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr5:140248933G>A uc003lia.2 + 1 1103 c.245G>A c.(244-246)GGC>GAC p.G82D 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_uc011dae.1_Missense_Mutation_p.G82D NM_018902 NP_061725 Q9Y5I1 PCDAB_HUMAN protocadherin alpha 11 isoform 1 precursor 82 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGCAGAATGGCATTTTGTTT 0.622000 PCDHGB7 56099 broad.mit.edu 37 5 140799030 140799030 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr5:140799030G>A uc003lkn.1 + 1 1749 c.1604G>A c.(1603-1605)CGC>CAC p.R535H 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_uc003lkm.2_Missense_Mutation_p.R535H|PCDHGA11_uc003lko.1_5'Flank|PCDHGA11_uc003lkp.1_5'Flank|PCDHGA11_uc003lkq.1_5'Flank NM_018927 NP_061750 Q9Y5F8 PCDGJ_HUMAN protocadherin gamma subfamily B, 7 isoform 1 535 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGCAGGCCCGCGACCAGGGC 0.701000 PCDH1 5097 broad.mit.edu 37 5 141243291 141243291 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr5:141243291C>T uc003llq.2 - 3 2722 c.2605G>A c.(2605-2607)GCC>ACC p.A869T PCDH1_uc003llp.2_Missense_Mutation_p.A869T|PCDH1_uc011dbf.1_Missense_Mutation_p.A847T NM_002587 NP_002578 Q08174 PCDH1_HUMAN protocadherin 1 isoform 1 precursor 869 Helical; (Potential). 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) ACCGCCAGGGCGATGAGCAAG 0.577000 TCERG1 10915 broad.mit.edu 37 5 145878172 145878172 + Silent SNP C C A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr5:145878172C>A uc003lob.2 + 16 2345 c.2305C>A c.(2305-2307)CGA>AGA p.R769R TCERG1_uc003loc.2_Silent_p.R748R NM_006706 NP_006697 O14776 TCRG1_HUMAN transcription elongation regulator 1 isoform 1 769 FF 2. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding|transcription coactivator activity ovary(1)|skin(1) 2 Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GATGAAAGACCGAGAAGCCTT 0.393000 GPR151 134391 broad.mit.edu 37 5 145895064 145895064 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr5:145895064G>A uc003lod.1 - 1 613 c.613C>T c.(613-615)CTC>TTC p.L205F NM_194251 NP_919227 Q8TDV0 GP151_HUMAN G protein-coupled receptor 151 205 Helical; Name=5; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AGTGGGTAGAGCTTACCAAAC 0.433000 PDE6A 5145 broad.mit.edu 37 5 149274815 149274815 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr5:149274815G>A uc003lrg.3 - 13 1779 c.1659C>T c.(1657-1659)TAC>TAT p.Y553Y NM_000440 NP_000431 P16499 PDE6A_HUMAN phosphodiesterase 6A 553 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) TGATCTTGCGGTAGCCCTTAC 0.592000 SLC6A7 6534 broad.mit.edu 37 5 149581986 149581986 + Missense_Mutation SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr5:149581986A>G uc003lrr.2 + 7 1306 c.935A>G c.(934-936)TAC>TGC p.Y312C NM_014228 NP_055043 Q99884 SC6A7_HUMAN solute carrier family 6, member 7 312 Helical; Name=6; (Potential). integral to plasma membrane|membrane fraction neurotransmitter:sodium symporter activity|proline:sodium symporter activity 0 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) L-Proline(DB00172) TTTGCCTCCTACAACACGTTT 0.587000 FAT2 2196 broad.mit.edu 37 5 150892047 150892047 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr5:150892047C>T uc003lue.3 - 20 11597 c.11584G>A c.(11584-11586)GCT>ACT p.A3862T GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Intron NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 3862 Extracellular (Potential).|Laminin G-like. 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) CGAATGGAAGCGTCCATCTCC 0.582000 FAT2 2196 broad.mit.edu 37 5 150948063 150948063 + Missense_Mutation SNP G G T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr5:150948063G>T uc003lue.3 - 1 443 c.430C>A c.(430-432)CTG>ATG p.L144M GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Missense_Mutation_p.L144M NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 144 Extracellular (Potential).|Cadherin 1. 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) AGAGGCTTCAGGTCATTCTGG 0.547000 MAT2B 27430 broad.mit.edu 37 5 162945228 162945228 + Silent SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr5:162945228A>G uc003lzk.2 + 7 972 c.864A>G c.(862-864)CAA>CAG p.Q288Q MAT2B_uc003lzj.2_Silent_p.Q277Q|MAT2B_uc003lzl.1_3'UTR|MAT2B_uc003lzm.2_Silent_p.Q28Q NM_013283 NP_037415 Q9NZL9 MAT2B_HUMAN methionine adenosyltransferase II, beta isoform 288 extracellular polysaccharide biosynthetic process|methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process cytosol|methionine adenosyltransferase complex|nucleus dTDP-4-dehydrorhamnose reductase activity|methionine adenosyltransferase regulator activity|protein binding upper_aerodigestive_tract(1) 1 Renal(175;0.000281) Medulloblastoma(196;0.0208)|all_neural(177;0.0765) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.027)|OV - Ovarian serous cystadenocarcinoma(192;0.0406)|Epithelial(171;0.0797) L-Methionine(DB00134)|S-Adenosylmethionine(DB00118) TAGGAGCACAACGTCCGAGAA 0.423000 ODZ2 57451 broad.mit.edu 37 5 167673928 167673928 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr5:167673928C>T uc010jjd.2 + 27 5957 c.5957C>T c.(5956-5958)TCG>TTG p.S1986L ODZ2_uc003lzr.3_Missense_Mutation_p.S1756L|ODZ2_uc003lzt.3_Missense_Mutation_p.S1359L|ODZ2_uc010jje.2_Missense_Mutation_p.S1250L NM_001122679 NP_001116151 odz, odd Oz/ten-m homolog 2 ovary(6)|central_nervous_system(4) 10 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) AGCAATGCTTCGGTCATCTTT 0.537000 RARS 5917 broad.mit.edu 37 5 167937620 167937620 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr5:167937620C>T uc003lzx.2 + 12 1422 c.1381C>T c.(1381-1383)CGC>TGC p.R461C RARS_uc011deo.1_Missense_Mutation_p.R255C NM_002887 NP_002878 P54136 SYRC_HUMAN arginyl-tRNA synthetase 461 arginyl-tRNA aminoacylation cytosol|nucleus|soluble fraction arginine-tRNA ligase activity|ATP binding|protein binding ovary(2)|skin(1) 3 Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0208)|all_neural(177;0.0227) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156) TGAAACAGTGCGCCTCATGGA 0.363000 DOCK2 1794 broad.mit.edu 37 5 169267846 169267846 + Missense_Mutation SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr5:169267846A>G uc003maf.2 + 27 2869 c.2789A>G c.(2788-2790)CAC>CGC p.H930R DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.H422R NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 930 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) GGCCGGGATCACATTCTGATT 0.463000 GRK6 2870 broad.mit.edu 37 5 176861093 176861093 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr5:176861093G>A uc011dfz.1 + 9 1077 c.917G>A c.(916-918)CGC>CAC p.R306H GRK6_uc003mgp.2_Missense_Mutation_p.R306H|GRK6_uc003mgq.2_Missense_Mutation_p.R306H|GRK6_uc003mgs.1_Missense_Mutation_p.R276H NM_002082 NP_002073 P43250 GRK6_HUMAN G protein-coupled receptor kinase 6 isoform B 306 Protein kinase. regulation of G-protein coupled receptor protein signaling pathway membrane ATP binding|G-protein coupled receptor kinase activity|signal transducer activity large_intestine(1)|stomach(1)|breast(1) 3 all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) 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) CACCGGGAGCGCATCGTGTAC 0.687000 FLT4 2324 broad.mit.edu 37 5 180048836 180048836 + Missense_Mutation SNP G G T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr5:180048836G>T uc003mma.3 - 13 1805 c.1726C>A c.(1726-1728)CTG>ATG p.L576M FLT4_uc003mlz.3_Missense_Mutation_p.L576M|FLT4_uc003mmb.1_Missense_Mutation_p.L109M|FLT4_uc011dgy.1_Missense_Mutation_p.L576M NM_002020 NP_002011 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 isoform 2 576 Ig-like C2-type 6.|Extracellular (Potential). positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1) 15 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) TGGCAGCTCAGGAGCACCGGC 0.627000 Congenital_Hereditary_Lymphedema FLT4 2324 broad.mit.edu 37 5 180056346 180056346 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr5:180056346C>T uc003mma.3 - 7 977 c.898G>A c.(898-900)GTC>ATC p.V300I FLT4_uc003mlz.3_Missense_Mutation_p.V300I|FLT4_uc003mmb.1_5'UTR|FLT4_uc011dgy.1_Missense_Mutation_p.V300I|FLT4_uc011dgz.1_Intron NM_002020 NP_002011 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 isoform 2 300 Ig-like C2-type 3.|Extracellular (Potential). positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1) 15 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) TGCTGGCTGACGTTGTGGATG 0.622000 Congenital_Hereditary_Lymphedema TRIM7 81786 broad.mit.edu 37 5 180630566 180630566 + Missense_Mutation SNP C C A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr5:180630566C>A uc003mmz.1 - 2 664 c.597G>T c.(595-597)AAG>AAT p.K199N TRIM7_uc003mmv.1_5'Flank|TRIM7_uc003mmw.1_5'UTR|TRIM7_uc003mmx.1_5'UTR|TRIM7_uc003mmy.1_5'UTR|TRIM7_uc003mna.2_Missense_Mutation_p.K199N NM_203293 NP_976038 Q9C029 TRIM7_HUMAN tripartite motif-containing 7 isoform 1 199 Potential. cytoplasm|nucleus zinc ion binding ovary(2)|skin(1) 3 all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802) TGCTCTCCTTCTTTTCCGTGG 0.577000 PRPF4B 8899 broad.mit.edu 37 6 4056600 4056600 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr6:4056600G>A uc003mvv.2 + 12 2603 c.2512G>A c.(2512-2514)GCT>ACT p.A838T PRPF4B_uc003mvw.2_RNA|C6orf146_uc010jnq.1_Intron|PRPF4B_uc011dhv.1_RNA NM_003913 NP_003904 Q13523 PRP4B_HUMAN serine/threonine-protein kinase PRP4K 838 Protein kinase. catalytic step 2 spliceosome ATP binding|protein binding|protein serine/threonine kinase activity breast(5) 5 Ovarian(93;0.0925) all_hematologic(90;0.0895) TTTTGGGTCGGCTTCACATGT 0.343000 FARS2 10667 broad.mit.edu 37 6 5369396 5369396 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr6:5369396G>A uc010jnv.1 + 2 929 c.593G>A c.(592-594)CGG>CAG p.R198Q FARS2_uc003mwr.2_Missense_Mutation_p.R198Q|FARS2_uc003mws.1_Missense_Mutation_p.R198Q NM_006567 NP_006558 O95363 SYFM_HUMAN phenylalanyl-tRNA synthetase 2 precursor 198 phenylalanyl-tRNA aminoacylation|tRNA processing mitochondrial matrix|soluble fraction ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding 0 Ovarian(93;0.11) all_hematologic(90;0.0104) L-Phenylalanine(DB00120) GAGGCCGTGCGGCTCTTCTCC 0.517000 TBC1D7 51256 broad.mit.edu 37 6 13316875 13316875 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr6:13316875G>A uc003naj.2 - 5 538 c.447C>T c.(445-447)GTC>GTT p.V149V TBC1D7_uc011dis.1_RNA|TBC1D7_uc003nan.2_Silent_p.V149V|TBC1D7_uc003nal.2_Silent_p.V149V|TBC1D7_uc003nam.2_Silent_p.V149V|TBC1D7_uc003nao.2_Silent_p.V122V|TBC1D7_uc010jpd.2_Intron|TBC1D7_uc003nap.2_Silent_p.V122V NM_016495 NP_057579 Q9P0N9 TBCD7_HUMAN TBC1 domain family, member 7 isoform a 149 Rab-GAP TBC. positive regulation of protein ubiquitination cytoplasmic membrane-bounded vesicle protein binding|Rab GTPase activator activity ovary(1) 1 Breast(50;0.0296)|Ovarian(93;0.0339) all_hematologic(90;0.135) Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21) AGTAACAGTCGACACTATCTT 0.423000 MRS2 57380 broad.mit.edu 37 6 24418358 24418358 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr6:24418358C>T uc003neb.2 + 8 1005 c.883C>T c.(883-885)CTG>TTG p.L295L MRS2_uc003nea.2_Silent_p.L295L|MRS2_uc011djl.1_Silent_p.L298L|MRS2_uc011djm.1_RNA|MRS2_uc011djn.1_Silent_p.L245L|MRS2_uc003nec.2_Silent_p.L172L NM_020662 NP_065713 Q9HD23 MRS2_HUMAN MRS2-like, magnesium homeostasis factor 295 Mitochondrial matrix (Potential). ion transport integral to membrane|mitochondrial inner membrane 0 GATGGAGTTGCTGTTGGAAAA 0.383000 ZNF322A 79692 broad.mit.edu 37 6 26638628 26638628 + Missense_Mutation SNP A A C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr6:26638628A>C uc003nil.3 - 4 783 c.154T>G c.(154-156)TTC>GTC p.F52V ZNF322A_uc003nij.2_5'Flank NM_024639 NP_078915 Q6U7Q0 Z322A_HUMAN zinc finger protein 322A 52 C2H2-type 1; atypical. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding 0 TTTTCACAGAAGTTTTGCTTG 0.363000 OR2J2 26707 broad.mit.edu 37 6 29141713 29141713 + Missense_Mutation SNP C C A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr6:29141713C>A uc011dlm.1 + 1 403 c.301C>A c.(301-303)CAA>AAA p.Q101K NM_030905 NP_112167 O76002 OR2J2_HUMAN olfactory receptor, family 2, subfamily J, 101 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TTGCATGGTTCAACTTTACTT 0.478000 KIAA1949 170954 broad.mit.edu 37 6 30647115 30647115 + Missense_Mutation SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr6:30647115A>G uc003nra.2 - 3 1894 c.1663T>C c.(1663-1665)TCC>CCC p.S555P KIAA1949_uc003nrb.3_Missense_Mutation_p.S555P NM_001134870 NP_001128342 Q6NYC8 PHTNS_HUMAN phostensin 555 cytoplasm|cytoskeleton actin binding 0 GAACTCTCGGAGGGGTATTGG 0.612000 MDC1 9656 broad.mit.edu 37 6 30672422 30672422 + Missense_Mutation SNP C C T rs148973631 TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr6:30672422C>T uc003nrg.3 - 10 4978 c.4538G>A c.(4537-4539)CGG>CAG p.R1513Q MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Missense_Mutation_p.R1120Q NM_014641 NP_055456 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 1513 Interaction with the PRKDC complex. cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|ovary(1)|kidney(1) 4 CCTAGTGGTCCGAGATGTGGG 0.577000 Other_conserved_DNA_damage_response_genes C6orf27 80737 broad.mit.edu 37 6 31734483 31734483 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr6:31734483C>T uc011dog.1 - 14 2179 c.1941G>A c.(1939-1941)GGG>GGA p.G647G C6orf27_uc003nxd.2_Silent_p.G322G NM_025258 NP_079534 Q9Y334 G7C_HUMAN G7c protein precursor 647 extracellular region ovary(3) 3 GCTGAGGATCCCCAGGATTGG 0.622000 EHMT2 10919 broad.mit.edu 37 6 31857080 31857080 + Nonsense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr6:31857080G>A uc003nxz.1 - 9 1049 c.1039C>T c.(1039-1041)CGA>TGA p.R347* EHMT2_uc003nxy.1_Nonsense_Mutation_p.R138*|EHMT2_uc011don.1_Nonsense_Mutation_p.R404*|EHMT2_uc003nya.1_Nonsense_Mutation_p.R347* NM_006709 NP_006700 Q96KQ7 EHMT2_HUMAN euchromatic histone-lysine N-methyltransferase 2 347 DNA methylation|peptidyl-lysine dimethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding ovary(1) 1 CTGTCTTTTCGCCATTTCTTC 0.647000 SKIV2L 6499 broad.mit.edu 37 6 31931727 31931727 + Missense_Mutation SNP G G A rs147878364 byFrequency TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr6:31931727G>A uc003nyn.1 + 16 2074 c.1685G>A c.(1684-1686)CGC>CAC p.R562H SKIV2L_uc011dou.1_Missense_Mutation_p.R404H|SKIV2L_uc011dov.1_Missense_Mutation_p.R369H NM_006929 NP_008860 Q15477 SKIV2_HUMAN superkiller viralicidic activity 2-like homolog 562 nucleus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1) 4 GCCTCCCTCCGCACACGTGCC 0.632000 TNXB 7148 broad.mit.edu 37 6 31977539 31977539 + Missense_Mutation SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr6:31977539T>C uc011dpc.1 - 12 2365 c.1456A>G c.(1456-1458)AAC>GAC p.N486D NM_032470 NP_115859 P22105 TENX_HUMAN tenascin XB isoform 2 4102 Fibrinogen C-terminal. N -> I (in Ref. 5; AAI25115). actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding 0 CAAAACACGTTCAGGGGCCGC 0.667000 TNXB 7148 broad.mit.edu 37 6 32036744 32036744 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr6:32036744G>A uc003nzl.2 - 16 5959 c.5757C>T c.(5755-5757)GAC>GAT p.D1919D NM_019105 NP_061978 P22105 TENX_HUMAN tenascin XB isoform 1 precursor 2001 Fibronectin type-III 12. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding 0 GGAGTTGCCCGTCTCTATCTG 0.532000 HLA-DMB 3109 broad.mit.edu 37 6 32903313 32903313 + Missense_Mutation SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr6:32903313T>C uc003ocl.1 - 4 972 c.739A>G c.(739-741)AGT>GGT p.S247G HLA-DMB_uc003ocj.1_3'UTR|HLA-DMB_uc003ock.1_RNA|HLA-DMB_uc010jud.1_Missense_Mutation_p.R116G|HLA-DMB_uc010jue.1_Intron|HLA-DMB_uc010juf.1_Intron NM_002118 NP_002109 P28068 DMB_HUMAN major histocompatibility complex, class II, DM 247 Cytoplasmic (Potential). antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex 0 AGTCACTCACTAGAGTGGCCA 0.517000 TAPBP 6892 broad.mit.edu 37 6 33281220 33281220 + Silent SNP C C G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr6:33281220C>G uc003odx.1 - 3 414 c.243G>C c.(241-243)CGG>CGC p.R81R TAPBP_uc010jus.1_Silent_p.R81R|TAPBP_uc003ody.2_Silent_p.R81R|TAPBP_uc003odz.2_Silent_p.R81R|TAPBP_uc010jut.1_Intron|TAPBP_uc011drc.1_Silent_p.R81R NM_003190 NP_003181 O15533 TPSN_HUMAN tapasin isoform 1 precursor 81 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 CCCGGGGATACCGCCTGAAGG 0.687000 GRM4 2914 broad.mit.edu 37 6 34101144 34101144 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr6:34101144G>A uc003oir.3 - 1 300 c.130C>T c.(130-132)CGC>TGC p.R44C GRM4_uc011dsn.1_Missense_Mutation_p.R44C|GRM4_uc010jvh.2_Missense_Mutation_p.R44C|GRM4_uc010jvi.2_5'UTR|GRM4_uc010jvk.1_Intron NM_000841 NP_000832 Q14833 GRM4_HUMAN glutamate receptor, metabotropic 4 precursor 44 Extracellular (Potential). activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity p.R44C(2) lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1) 6 L-Glutamic Acid(DB00142) CCATCTATGCGGATGGAATTC 0.612000 MTCH1 23787 broad.mit.edu 37 6 36946316 36946316 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr6:36946316C>T uc003ond.1 - 3 478 c.478G>A c.(478-480)GCC>ACC p.A160T MTCH1_uc003onc.1_Missense_Mutation_p.A160T|MTCH1_uc010jwo.1_RNA|MTCH1_uc003one.3_Missense_Mutation_p.A160T|MTCH1_uc011dtt.1_5'UTR NM_014341 NP_055156 Q9NZJ7 MTCH1_HUMAN mitochondrial carrier homolog 1 160 Solcar 1. activation of caspase activity|neuronal ion channel clustering|positive regulation of apoptosis|regulation of signal transduction|transport integral to membrane|mitochondrial inner membrane protein binding 0 GTAGAGAGGGCGTTGGACATC 0.567000 MOCS1 4337 broad.mit.edu 37 6 39881119 39881119 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr6:39881119C>T uc003opb.2 - 5 837 c.699G>A c.(697-699)GCG>GCA p.A233A MOCS1_uc003opa.2_Silent_p.A233A|MOCS1_uc003opc.2_Silent_p.A233A|MOCS1_uc003opd.2_Silent_p.A233A|MOCS1_uc003ope.2_Silent_p.A146A NM_005942 NP_005933 Q9NZB8 MOCS1_HUMAN molybdenum cofactor synthesis-step 1 protein 233 Molybdenum cofactor biosynthesis protein A. A -> V (in Ref. 3; BAG51799/BAG62053). Mo-molybdopterin cofactor biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol|molybdopterin synthase complex|nucleus 4 iron, 4 sulfur cluster binding|4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding ovary(1)|liver(1)|central_nervous_system(1) 3 Ovarian(28;0.0355)|Colorectal(47;0.196) CAGTCAAGGCCGCAAAGTCCA 0.577000 TREM1 54210 broad.mit.edu 37 6 41243898 41243898 + Missense_Mutation SNP G G T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr6:41243898G>T uc003oqf.1 - 4 734 c.670C>A c.(670-672)CTG>ATG p.L224M TREM1_uc003oqg.1_3'UTR NM_018643 NP_061113 Q9NP99 TREM1_HUMAN triggering receptor expressed on myeloid cells 1 224 Helical; (Potential). blood coagulation|humoral immune response|intracellular signal transduction|leukocyte migration extracellular region|integral to membrane|intracellular|plasma membrane receptor activity breast(1) 1 Ovarian(28;0.0327)|Colorectal(47;0.196) Glutathione(DB00143) ACAGCAAACAGGACAGAGAAG 0.547000 NCR2 9436 broad.mit.edu 37 6 41309825 41309825 + Silent SNP G G A rs138366454 by1000genomes TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr6:41309825G>A uc003oqh.2 + 4 669 c.582G>A c.(580-582)GTG>GTA p.V194V NCR2_uc003oqi.2_Silent_p.V206V|NCR2_uc003oqj.2_Silent_p.V194V NM_004828 NP_004819 O95944 NCTR2_HUMAN natural cytotoxicity triggering receptor 2 194 Helical; (Potential). cellular defense response integral to plasma membrane transmembrane receptor activity ovary(1) 1 Ovarian(28;0.0327)|Colorectal(47;0.196) TTGCCCTGGTGCCTGTGTTCT 0.637000 GUCA1A 2978 broad.mit.edu 37 6 42146094 42146094 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr6:42146094G>A uc003orx.2 + 4 923 c.278G>A c.(277-279)CGC>CAC p.R93H GUCA1A_uc011duo.1_RNA|GUCA1A_uc010jxt.2_Missense_Mutation_p.R93H NM_000409 NP_000400 P43080 GUC1A_HUMAN guanylate cyclase activator 1A (retina) 93 EF-hand 3. signal transduction|visual perception membrane calcium ion binding|calcium sensitive guanylate cyclase activator activity 0 Colorectal(47;0.196) STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) CAGAAGCTCCGCTGGTACTTC 0.617000 PPP2R5D 5528 broad.mit.edu 37 6 42974953 42974953 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr6:42974953G>A uc003oth.2 + 5 628 c.542G>A c.(541-543)CGG>CAG p.R181Q MEA1_uc010jyc.1_Intron|PPP2R5D_uc003otg.2_Missense_Mutation_p.R149Q|PPP2R5D_uc010jyd.2_Missense_Mutation_p.R75Q|PPP2R5D_uc011dva.1_Missense_Mutation_p.R30Q|PPP2R5D_uc003oti.2_Missense_Mutation_p.R30Q|PPP2R5D_uc003otj.2_Missense_Mutation_p.R30Q NM_006245 NP_006236 Q14738 2A5D_HUMAN delta isoform of regulatory subunit B56, protein 181 nervous system development|signal transduction cytoplasm|nucleus|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity breast(1)|central_nervous_system(1) 2 Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) AACCTCTTCCGGACGCTGCCA 0.602000 CYP39A1 51302 broad.mit.edu 37 6 46607365 46607365 + Missense_Mutation SNP T T A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr6:46607365T>A uc003oyf.1 - 3 558 c.354A>T c.(352-354)AAA>AAT p.K118N CYP39A1_uc011dwa.1_Intron|CYP39A1_uc010jzd.1_Intron NM_016593 NP_057677 Q9NYL5 CP39A_HUMAN cytochrome P450, family 39, subfamily A, 118 bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity ovary(1) 1 TAATATAGAGTTTTTCATGCA 0.348000 FILIP1 27145 broad.mit.edu 37 6 76024734 76024734 + Missense_Mutation SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr6:76024734T>C uc003pia.2 - 5 1187 c.814A>G c.(814-816)ACT>GCT p.T272A FILIP1_uc003phy.1_Missense_Mutation_p.T272A|FILIP1_uc003phz.2_Missense_Mutation_p.T173A|FILIP1_uc010kbe.2_Missense_Mutation_p.T275A|FILIP1_uc003pib.1_Missense_Mutation_p.T24A NM_015687 NP_056502 Q7Z7B0 FLIP1_HUMAN filamin A interacting protein 1 272 Potential. skin(3)|ovary(1) 4 AGCTTCTGAGTAAGATCCTGT 0.413000 LCA5 167691 broad.mit.edu 37 6 80223368 80223368 + Missense_Mutation SNP C C T rs34531407 byFrequency TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr6:80223368C>T uc003pix.2 - 3 716 c.281G>A c.(280-282)CGG>CAG p.R94Q LCA5_uc003piy.2_Missense_Mutation_p.R94Q|LCA5_uc011dyq.1_RNA|LCA5_uc011dyr.1_Missense_Mutation_p.R94Q NM_001122769 NP_001116241 Q86VQ0 LCA5_HUMAN Leber congenital amaurosis 5 94 protein transport cilium axoneme|microtubule basal body protein binding 0 all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176) BRCA - Breast invasive adenocarcinoma(397;0.0657) AGTATCTTTCCGAAGTGGCTC 0.453000 BCKDHB 594 broad.mit.edu 37 6 80881109 80881109 + Splice_Site SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr6:80881109T>C uc003pjd.2 + 6 809 c.742_splice c.e6+2 p.A248_splice BCKDHB_uc003pje.2_Splice_Site_p.A248_splice NM_000056 NP_000047 P21953 ODBB_HUMAN branched chain keto acid dehydrogenase E1 beta branched chain family amino acid catabolic process mitochondrial alpha-ketoglutarate dehydrogenase complex 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding 0 all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149) BRCA - Breast invasive adenocarcinoma(397;0.0291) GGGCAGCAGGTAAAGATTTTC 0.279000 SNX14 57231 broad.mit.edu 37 6 86256893 86256893 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr6:86256893G>A uc003pkr.2 - 12 1238 c.1045C>T c.(1045-1047)CGT>TGT p.R349C SNX14_uc003pkp.2_Missense_Mutation_p.R212C|SNX14_uc003pkq.2_5'UTR|SNX14_uc011dzg.1_Missense_Mutation_p.R297C|SNX14_uc003pks.2_Missense_Mutation_p.R305C|SNX14_uc003pkt.2_Missense_Mutation_p.R349C NM_153816 NP_722523 Q9Y5W7 SNX14_HUMAN sorting nexin 14 isoform a 349 RGS. cell communication|protein transport integral to membrane phosphatidylinositol binding|signal transducer activity 0 all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24) BRCA - Breast invasive adenocarcinoma(108;0.0423) TTCATAAAACGAAATAAAAGA 0.338000 SNX14 57231 broad.mit.edu 37 6 86283982 86283982 + Silent SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr6:86283982T>C uc003pkr.2 - 2 448 c.255A>G c.(253-255)AAA>AAG p.K85K SNX14_uc003pkq.2_5'UTR|SNX14_uc011dzg.1_Silent_p.K33K|SNX14_uc003pks.2_Silent_p.K85K|SNX14_uc003pkt.2_Silent_p.K85K NM_153816 NP_722523 Q9Y5W7 SNX14_HUMAN sorting nexin 14 isoform a 85 cell communication|protein transport integral to membrane phosphatidylinositol binding|signal transducer activity 0 all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24) BRCA - Breast invasive adenocarcinoma(108;0.0423) TTACCTTGGGTTTGTATTTTA 0.313000 EPHA7 2045 broad.mit.edu 37 6 93982022 93982022 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr6:93982022G>A uc003poe.2 - 6 1684 c.1443C>T c.(1441-1443)TAC>TAT p.Y481Y EPHA7_uc003pof.2_Silent_p.Y481Y|EPHA7_uc011eac.1_Silent_p.Y481Y NM_004440 NP_004431 Q15375 EPHA7_HUMAN ephrin receptor EphA7 precursor 481 Extracellular (Potential).|Fibronectin type-III 2. 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) TTACTTTCTCGTAATACTTGA 0.423000 HDDC2 51020 broad.mit.edu 37 6 125619888 125619888 + Missense_Mutation SNP G G T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr6:125619888G>T uc003qaa.1 - 3 485 c.281C>A c.(280-282)CCC>CAC p.P94H HDDC2_uc003qab.1_Intron NM_016063 NP_057147 Q7Z4H3 HDDC2_HUMAN HD domain containing 2 94 HD. metal ion binding|phosphoric diester hydrolase activity 0 LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828) GBM - Glioblastoma multiforme(226;0.0186) TTCTTCTTTGGGGATGTTATC 0.308000 TMEM200A 114801 broad.mit.edu 37 6 130762378 130762378 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr6:130762378G>A uc003qca.2 + 3 1682 c.811G>A c.(811-813)GGC>AGC p.G271S TMEM200A_uc010kfh.2_Missense_Mutation_p.G271S|TMEM200A_uc010kfi.2_Missense_Mutation_p.G271S|TMEM200A_uc003qcb.2_Missense_Mutation_p.G271S NM_052913 NP_443145 Q86VY9 T200A_HUMAN transmembrane protein 200A 271 Cytoplasmic (Potential). integral to membrane ovary(1) 1 GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12) TAAGACCAGCGGCTCTAAGAA 0.453000 MOXD1 26002 broad.mit.edu 37 6 132643931 132643931 + Missense_Mutation SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr6:132643931T>C uc003qdf.2 - 8 1291 c.1192A>G c.(1192-1194)AGG>GGG p.R398G MOXD1_uc003qde.2_Missense_Mutation_p.R330G NM_015529 NP_056344 Q6UVY6 MOXD1_HUMAN monooxygenase, DBH-like 1 isoform 2 398 Lumenal (Potential). catecholamine metabolic process endoplasmic reticulum membrane|integral to membrane copper ion binding|dopamine beta-monooxygenase activity ovary(1) 1 Breast(56;0.0495) OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191) TGACGCAGCCTGATGCCTCTG 0.448000 HIVEP2 3097 broad.mit.edu 37 6 143093193 143093193 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr6:143093193C>T uc003qjd.2 - 5 3426 c.2683G>A c.(2683-2685)GAG>AAG p.E895K NM_006734 NP_006725 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer 895 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(2)|central_nervous_system(1) 6 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) TCAGGCTCCTCGGTCACTCGA 0.537000 UTRN 7402 broad.mit.edu 37 6 144780470 144780470 + Missense_Mutation SNP G G A rs115273171 by1000genomes TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr6:144780470G>A uc003qkt.2 + 20 2779 c.2687G>A c.(2686-2688)CGT>CAT p.R896H UTRN_uc010khq.1_Missense_Mutation_p.R896H NM_007124 NP_009055 P46939 UTRO_HUMAN utrophin 896 Interaction with SYNM.|Spectrin 6. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding ovary(4)|pancreas(1) 5 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) GTAGAGGATCGTCAACAACAT 0.463000 SYNE1 23345 broad.mit.edu 37 6 152476161 152476161 + Nonsense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr6:152476161G>A uc010kiw.2 - 133 24597 c.23995C>T c.(23995-23997)CGA>TGA p.R7999* SYNE1_uc010kiv.2_Nonsense_Mutation_p.R2523*|SYNE1_uc003qos.3_Nonsense_Mutation_p.R2523*|SYNE1_uc003qot.3_Nonsense_Mutation_p.R7928*|SYNE1_uc003qou.3_Nonsense_Mutation_p.R7999*|SYNE1_uc003qop.3_Nonsense_Mutation_p.R161*|SYNE1_uc011eez.1_Nonsense_Mutation_p.R201*|SYNE1_uc003qoq.3_Nonsense_Mutation_p.R201*|SYNE1_uc003qor.3_Nonsense_Mutation_p.R899* NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 7999 Spectrin 29.|Cytoplasmic (Potential).|HAT 12. cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TGCCACAATCGCCACGTCTCT 0.473000 HNSCC(10;0.0054) FRMD1 79981 broad.mit.edu 37 6 168461723 168461723 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr6:168461723G>A uc003qwo.3 - 9 1125 c.1060C>T c.(1060-1062)CGG>TGG p.R354W FRMD1_uc003qwm.3_Missense_Mutation_p.R148W|FRMD1_uc011egs.1_Missense_Mutation_p.R125W|FRMD1_uc011egt.1_Missense_Mutation_p.R289W|FRMD1_uc003qwn.3_Missense_Mutation_p.R286W NM_024919 NP_079195 Q8N878 FRMD1_HUMAN FERM domain containing 1 isoform 1 354 FERM. cytoskeleton binding ovary(1) 1 Breast(66;1.07e-05)|Ovarian(120;0.0728) Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756) TAGGACTCCCGGTAGTGCTGC 0.642000 INTS1 26173 broad.mit.edu 37 7 1514368 1514368 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr7:1514368G>A uc003skn.2 - 40 5710 c.5609C>T c.(5608-5610)GCG>GTG p.A1870V INTS1_uc003skm.1_Missense_Mutation_p.A7V NM_001080453 NP_001073922 Q8N201 INT1_HUMAN integrator complex subunit 1 1870 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) GTGCGCCACCGCCAGCTTCCG 0.682000 SDK1 221935 broad.mit.edu 37 7 4188998 4188998 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr7:4188998C>T uc003smx.2 + 30 4667 c.4528C>T c.(4528-4530)CGG>TGG p.R1510W SDK1_uc010kso.2_Missense_Mutation_p.R786W|SDK1_uc003smy.2_5'UTR NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN sidekick 1 precursor 1510 Fibronectin type-III 9. 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) CTCCCCCATCCGGTACTTCAC 0.677000 THSD7A 221981 broad.mit.edu 37 7 11675852 11675852 + Missense_Mutation SNP C C A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr7:11675852C>A uc003ssf.3 - 2 1179 c.927G>T c.(925-927)CAG>CAT p.Q309H NM_015204 NP_056019 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 309 Extracellular (Potential).|Potential. integral to membrane ovary(3) 3 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) CTTGTCTGTTCTGCCTGTTTC 0.443000 HNSCC(18;0.044) DFNA5 1687 broad.mit.edu 37 7 24784260 24784260 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr7:24784260C>T uc010kus.1 - 3 413 c.325G>A c.(325-327)GTA>ATA p.V109I DFNA5_uc003swz.2_5'UTR|DFNA5_uc003sxa.1_Missense_Mutation_p.V109I|DFNA5_uc010kut.1_5'UTR|DFNA5_uc003sxb.2_Missense_Mutation_p.V109I|DFNA5_uc003sxc.2_Missense_Mutation_p.V109I NM_001127453 NP_001120925 O60443 DFNA5_HUMAN deafness, autosomal dominant 5 protein isoform 109 sensory perception of sound ovary(1) 1 TGGCTCTCTACGCGGCTGCTG 0.547000 WIPF3 644150 broad.mit.edu 37 7 29915533 29915533 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr7:29915533C>T uc003taj.1 + 2 178 c.178C>T c.(178-180)CGC>TGC p.R60C NM_001080529 NP_001073998 A6NGB9 WIPF3_HUMAN WAS/WASL interacting protein family, member 3 60 ovary(1) 1 AACTCGCCTGCGCAAAGTCAC 0.592000 C7orf41 222166 broad.mit.edu 37 7 30197086 30197086 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr7:30197086G>A uc011kab.1 + 3 519 c.318G>A c.(316-318)GCG>GCA p.A106A C7orf41_uc010kvr.1_RNA|C7orf41_uc003tar.1_Silent_p.A106A NM_152793 NP_690006 Q8N3F0 CG041_HUMAN hypothetical protein LOC222166 106 0 ATGACGATGCGTTTGAAGAGT 0.567000 KIAA0895 23366 broad.mit.edu 37 7 36396613 36396613 + Missense_Mutation SNP G G C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr7:36396613G>C uc003tfd.2 - 3 816 c.765C>G c.(763-765)TTC>TTG p.F255L KIAA0895_uc003tfc.2_Missense_Mutation_p.F242L|KIAA0895_uc011kaw.1_Missense_Mutation_p.F104L|KIAA0895_uc003tfb.2_Missense_Mutation_p.F204L|KIAA0895_uc011kax.1_Missense_Mutation_p.F204L|KIAA0895_uc003tfe.2_Missense_Mutation_p.F242L|KIAA0895_uc011kay.1_Missense_Mutation_p.F204L NM_001100425 NP_001093895 Q8NCT3 K0895_HUMAN hypothetical protein LOC23366 isoform 1 255 0 AGTCAGATTTGAAGAATCTCA 0.393000 KIAA0895 23366 broad.mit.edu 37 7 36397160 36397160 + Missense_Mutation SNP G G C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr7:36397160G>C uc003tfd.2 - 3 269 c.218C>G c.(217-219)TCT>TGT p.S73C KIAA0895_uc003tfc.2_Missense_Mutation_p.S60C|KIAA0895_uc011kaw.1_5'UTR|KIAA0895_uc003tfb.2_Missense_Mutation_p.S22C|KIAA0895_uc011kax.1_Missense_Mutation_p.S22C|KIAA0895_uc003tfe.2_Missense_Mutation_p.S60C|KIAA0895_uc011kay.1_Missense_Mutation_p.S22C NM_001100425 NP_001093895 Q8NCT3 K0895_HUMAN hypothetical protein LOC23366 isoform 1 73 0 ATTTAGAATAGACTTCTTAGC 0.353000 TXNDC3 51314 broad.mit.edu 37 7 37901736 37901736 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr7:37901736C>T uc003tfn.2 + 7 749 c.377C>T c.(376-378)GCT>GTT p.A126V NM_016616 NP_057700 Q8N427 TXND3_HUMAN thioredoxin domain containing 3 126 cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process cytoplasm|microtubule cytoskeleton ATP binding|nucleoside diphosphate kinase activity ovary(1)|breast(1)|central_nervous_system(1) 3 GGTGAAATGGCTCGACCTCAG 0.358000 Kartagener_syndrome CCM2 83605 broad.mit.edu 37 7 45115406 45115406 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr7:45115406G>A uc003tmo.2 + 10 1231 c.1085G>A c.(1084-1086)AGC>AAC p.S362N CCM2_uc003tmn.2_RNA|CCM2_uc003tmp.2_Missense_Mutation_p.S304N|CCM2_uc003tmq.2_RNA|CCM2_uc003tmr.2_Missense_Mutation_p.S271N|CCM2_uc003tms.2_Missense_Mutation_p.S383N NM_031443 NP_113631 Q9BSQ5 CCM2_HUMAN cerebral cavernous malformation 2 isoform 2 362 endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis cytoplasm protein binding 0 GAGAAGGACAGCCAGCACTTC 0.607000 Familial_Cerebral_Cavernous_Angioma C7orf42 55069 broad.mit.edu 37 7 66413644 66413644 + Missense_Mutation SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr7:66413644A>G uc003tvk.2 + 4 823 c.559A>G c.(559-561)ACC>GCC p.T187A C7orf42_uc010lah.2_RNA|C7orf42_uc003tvl.2_Missense_Mutation_p.T187A NM_017994 NP_060464 Q9NWD8 CG042_HUMAN hypothetical protein LOC55069 187 Helical; (Potential). integral to membrane ovary(1) 1 AGCCTGCATGACCCTCACGGC 0.592000 LAT2 7462 broad.mit.edu 37 7 73638506 73638506 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr7:73638506C>T uc003uag.2 + 12 1157 c.607C>T c.(607-609)CGC>TGC p.R203C RFC2_uc011kfa.1_Intron|LAT2_uc003uah.2_Missense_Mutation_p.R203C|LAT2_uc003uai.2_Missense_Mutation_p.R203C|LAT2_uc010lbo.2_RNA NM_032464 NP_115853 Q9GZY6 NTAL_HUMAN linker for activation of T cells family member 203 Cytoplasmic (Potential). B cell activation|B cell receptor signaling pathway|calcium-mediated signaling|mast cell degranulation integral to membrane|intracellular|membrane raft|plasma membrane SH2 domain binding 0 CCATCAGTGGCGCGAGTCCAG 0.587000 HIP1 3092 broad.mit.edu 37 7 75168711 75168711 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr7:75168711C>T uc003uds.1 - 30 3034 c.2993G>A c.(2992-2994)CGT>CAT p.R998H HIP1_uc011kfz.1_Missense_Mutation_p.R824H NM_005338 NP_005329 O00291 HIP1_HUMAN huntingtin interacting protein 1 998 I/LWEQ. activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1) 8 CAGTTTTTGACGCTCCTTCTG 0.453000 T PDGFRB CMML MAGI2 9863 broad.mit.edu 37 7 77814969 77814969 + Missense_Mutation SNP G G T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr7:77814969G>T uc003ugx.2 - 13 2542 c.2288C>A c.(2287-2289)ACC>AAC p.T763N MAGI2_uc003ugy.2_Intron|MAGI2_uc010ldx.1_Intron|MAGI2_uc010ldy.1_Missense_Mutation_p.T372N NM_012301 NP_036433 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ 763 cell junction|synapse|synaptosome phosphatase binding ovary(5)|lung(4)|breast(1)|skin(1) 11 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) TCGAAAACTGGTCCTGGGTGG 0.358000 GRM3 2913 broad.mit.edu 37 7 86468840 86468840 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr7:86468840C>T uc003uid.2 + 4 3109 c.2010C>T c.(2008-2010)TTC>TTT p.F670F GRM3_uc010lef.2_Intron|GRM3_uc010leg.2_Silent_p.F542F|GRM3_uc010leh.2_Silent_p.F262F NM_000840 NP_000831 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 precursor 670 Cytoplasmic (Potential). synaptic transmission integral to plasma membrane lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1) 13 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) CCCGCATCTTCGATGGGGTCA 0.537000 ABCB4 5244 broad.mit.edu 37 7 87076415 87076415 + Missense_Mutation SNP G G T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr7:87076415G>T uc003uiv.1 - 9 1016 c.940C>A c.(940-942)CTG>ATG p.L314M ABCB4_uc003uiw.1_Missense_Mutation_p.L314M|ABCB4_uc003uix.1_Missense_Mutation_p.L314M NM_018849 NP_061337 P21439 MDR3_HUMAN ATP-binding cassette, subfamily B, member 4 314 Helical; (By similarity).|ABC transmembrane type-1 1. cellular lipid metabolic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity ovary(4)|skin(1)|pancreas(1) 6 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) CAGAAGGCCAGTGCATATGAT 0.333000 SLC25A13 10165 broad.mit.edu 37 7 95906629 95906629 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr7:95906629C>T uc003uof.3 - 3 282 c.91G>A c.(91-93)GGT>AGT p.G31S SLC25A13_uc003uog.3_Missense_Mutation_p.G31S|SLC25A13_uc011kik.1_5'UTR NM_014251 NP_055066 Q9UJS0 CMC2_HUMAN solute carrier family 25, member 13 isoform 2 31 ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion integral to plasma membrane|mitochondrial inner membrane calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity central_nervous_system(3)|skin(1) 4 all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07) STAD - Stomach adenocarcinoma(171;0.194) L-Aspartic Acid(DB00128) AAAAATTCACCGTTTTTCTCA 0.318000 C7orf59 389541 broad.mit.edu 37 7 99751060 99751060 + Missense_Mutation SNP G G T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr7:99751060G>T uc003utq.2 + 3 188 c.122G>T c.(121-123)AGT>ATT p.S41I NM_001008395 NP_001008396 Q0VGL1 CG059_HUMAN hypothetical protein LOC389541 41 0 CAGGCAGCCAGTGCCATCTCT 0.557000 TSC22D4 81628 broad.mit.edu 37 7 100064674 100064674 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr7:100064674G>A uc003uva.2 - 5 1851 c.1096C>T c.(1096-1098)CGC>TGC p.R366C C7orf61_uc003uuz.1_5'Flank|TSC22D4_uc003uvb.2_Missense_Mutation_p.R127C|TSC22D4_uc011kjv.1_Missense_Mutation_p.R127C|TSC22D4_uc010lgx.2_Missense_Mutation_p.R366C NM_030935 NP_112197 Q9Y3Q8 T22D4_HUMAN TSC22 domain family, member 4 366 negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding transcription factor activity breast(2) 2 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GCCAGGGCGCGCAGCAGCCCA 0.701000 CUX1 1523 broad.mit.edu 37 7 101870917 101870917 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr7:101870917G>A uc003uyx.3 + 21 3439 c.3401G>A c.(3400-3402)CGG>CAG p.R1134Q CUX1_uc003uys.3_Missense_Mutation_p.R1145Q|CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron NM_181552 NP_853530 P39880 CUX1_HUMAN cut-like homeobox 1 isoform a 1134 CUT 3. 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 ATAACCAAGCGGGTGAAGGAG 0.612000 ORAI2 80228 broad.mit.edu 37 7 102087196 102087196 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr7:102087196C>T uc010lhz.1 + 4 697 c.462C>T c.(460-462)ACC>ACT p.T154T ORAI2_uc003uzj.2_Silent_p.T154T|ORAI2_uc003uzk.2_Silent_p.T154T|ORAI2_uc011kks.1_Silent_p.T77T NM_001126340 NP_001119812 Q96SN7 ORAI2_HUMAN ORAI calcium release-activated calcium modulator 154 Helical; (Potential). integral to membrane protein binding ovary(1)|kidney(1) 2 GCTTCTCCACCGTGCTTGGCA 0.647000 PMPCB 9512 broad.mit.edu 37 7 102948086 102948086 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr7:102948086C>T uc003vbl.2 + 7 814 c.780C>T c.(778-780)TTC>TTT p.F260F PMPCB_uc010liu.1_Silent_p.F260F|PMPCB_uc003vbk.1_Silent_p.F260F|PMPCB_uc003vbm.2_Silent_p.F169F|PMPCB_uc010liv.2_Silent_p.F166F|PMPCB_uc010liw.2_Silent_p.F169F|PMPCB_uc011kll.1_Silent_p.F155F|PMPCB_uc011klm.1_Silent_p.F135F NM_004279 NP_004270 O75439 MPPB_HUMAN mitochondrial processing peptidase beta subunit 260 proteolysis mitochondrial matrix metalloendopeptidase activity|zinc ion binding ovary(4) 4 AGTTTCATTTCGGTGACTCTT 0.388000 RELN 5649 broad.mit.edu 37 7 103113285 103113285 + Nonsense_Mutation SNP G G A rs139326865 TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr7:103113285G>A uc003vca.2 - 66 10517 c.10357C>T c.(10357-10359)CGA>TGA p.R3453* RELN_uc010liz.2_Nonsense_Mutation_p.R3451* NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 3453 Arg-rich (basic). axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) AGTGACCTTCGTCTTCTGTTG 0.378000 RELN 5649 broad.mit.edu 37 7 103124242 103124242 + Missense_Mutation SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr7:103124242T>C uc003vca.2 - 62 10199 c.10039A>G c.(10039-10041)AGT>GGT p.S3347G RELN_uc010liz.2_Missense_Mutation_p.S3347G NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 3347 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CTCAGGTCACTGTTGCAGCTG 0.468000 ATXN7L1 222255 broad.mit.edu 37 7 105429099 105429099 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr7:105429099G>A uc003vde.2 - 3 333 c.306C>T c.(304-306)TGC>TGT p.C102C ATXN7L1_uc003vdi.2_Silent_p.C102C NM_020725 NP_065776 Q9ULK2 AT7L1_HUMAN ataxin 7-like 1 isoform 1 102 0 TACAGGCACTGCACACTACGA 0.517000 LRRN3 54674 broad.mit.edu 37 7 110764026 110764026 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr7:110764026C>T uc003vft.3 + 4 2244 c.1198C>T c.(1198-1200)CCT>TCT p.P400S IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Missense_Mutation_p.P400S|LRRN3_uc003vfs.3_Missense_Mutation_p.P400S NM_001099660 NP_001093130 Q9H3W5 LRRN3_HUMAN leucine rich repeat neuronal 3 precursor 400 Extracellular (Potential).|LRRCT. integral to membrane p.P399fs*16(1) skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1) 8 UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125) CGTGGACCCACCTGAATTCCA 0.448000 GRM8 2918 broad.mit.edu 37 7 126173502 126173502 + Missense_Mutation SNP G G T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr7:126173502G>T uc003vlr.2 - 8 2245 c.1934C>A c.(1933-1935)ACA>AAA p.T645K GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.T645K|GRM8_uc010lkz.1_RNA NM_000845 NP_000836 O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 isoform a 645 Extracellular (Potential). negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1) 23 Prostate(267;0.186) L-Glutamic Acid(DB00142) GCATATGATTGTATCTGGTGC 0.458000 HNSCC(24;0.065) FSCN3 29999 broad.mit.edu 37 7 127235874 127235874 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr7:127235874C>T uc003vmd.1 + 2 877 c.658C>T c.(658-660)CGG>TGG p.R220W FSCN3_uc003vmc.1_Missense_Mutation_p.R175W|FSCN3_uc011kog.1_RNA|FSCN3_uc011koh.1_Missense_Mutation_p.R86W|FSCN3_uc010llc.1_Missense_Mutation_p.R220W NM_020369 NP_065102 Q9NQT6 FSCN3_HUMAN fascin 3 220 actin cytoskeleton|cytoplasm actin filament binding|protein binding, bridging ovary(1) 1 CATGCAAGTGCGGCCTGGAGG 0.562000 DGKI 9162 broad.mit.edu 37 7 137304599 137304599 + Missense_Mutation SNP T T A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr7:137304599T>A uc003vtt.2 - 8 965 c.964A>T c.(964-966)ACT>TCT p.T322S DGKI_uc003vtu.2_Missense_Mutation_p.T22S NM_004717 NP_004708 O75912 DGKI_HUMAN diacylglycerol kinase, iota 322 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(1)|kidney(1)|skin(1) 3 ATGATCCAAGTGGGCGGGACA 0.498000 HIPK2 28996 broad.mit.edu 37 7 139281492 139281492 + Missense_Mutation SNP C C G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr7:139281492C>G uc003vvf.3 - 12 2862 c.2688G>C c.(2686-2688)GAG>GAC p.E896D HIPK2_uc003vvd.3_Missense_Mutation_p.E869D NM_022740 NP_073577 Q9H2X6 HIPK2_HUMAN homeodomain interacting protein kinase 2 isoform 896 Interaction with TP53 and TP73.|Required for localization to nuclear speckles (By similarity).|Interaction with UBE2I (By similarity).|SUMO interaction motifs (SIM); required for nuclear localization and kinase activity.|Interaction with HMGA1 (By similarity).|Interaction with POU4F1 (By similarity). DTDEEEE->NFNQQQQ: Loss of SUMO and CBX4 interaction, and impaired nuclear and PML-nuclear bodies localization. apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction centrosome|nuclear membrane|PML body ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding ovary(3)|central_nervous_system(3)|skin(1) 7 Melanoma(164;0.205) GTTCCTCCTCCTCGTCCGTGT 0.612000 CNTNAP2 26047 broad.mit.edu 37 7 146741062 146741062 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr7:146741062G>A uc003weu.1 + 4 982 c.466G>A c.(466-468)GCC>ACC p.A156T NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 156 F5/8 type C.|Extracellular (Potential). behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) TCCGATTATTGCCCGCTATGT 0.428000 HNSCC(39;0.1) CNTNAP2 26047 broad.mit.edu 37 7 147844772 147844772 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr7:147844772G>A uc003weu.1 + 17 3260 c.2744G>A c.(2743-2745)CGC>CAC p.R915H NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 915 Laminin G-like 3.|Extracellular (Potential). behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) GGCCACACCCGCCTGGAGCTC 0.522000 HNSCC(39;0.1) SSPO 23145 broad.mit.edu 37 7 149500830 149500830 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr7:149500830C>T uc010lpk.2 + 56 8148 c.8148C>T c.(8146-8148)TGC>TGT p.C2716C NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 2716 TSP type-1 6. cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CCCTGCCCTGCGGCTGGTCAG 0.687000 GIMAP7 168537 broad.mit.edu 37 7 150217082 150217082 + Missense_Mutation SNP G G A rs145339506 TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr7:150217082G>A uc003whk.2 + 2 150 c.20G>A c.(19-21)CGC>CAC p.R7H NM_153236 NP_694968 Q8NHV1 GIMA7_HUMAN GTPase, IMAP family member 7 7 GTP binding pancreas(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AGTGAGGACCGCTCCCTGAGG 0.493000 ASB10 136371 broad.mit.edu 37 7 150883931 150883931 + Missense_Mutation SNP C C G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr7:150883931C>G uc003wjm.1 - 1 548 c.422G>C c.(421-423)AGG>ACG p.R141T ASB10_uc003wjl.1_Missense_Mutation_p.R141T|ASB10_uc003wjn.1_Intron NM_001142459 NP_001135931 Q8WXI3 ASB10_HUMAN ankyrin repeat and SOCS box-containing 10 96 intracellular signal transduction 0 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GCGGAAATCCCTCCATCGCTC 0.642000 NUB1 51667 broad.mit.edu 37 7 151065014 151065014 + Missense_Mutation SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr7:151065014A>G uc003wjx.2 + 10 1132 c.1127A>G c.(1126-1128)CAC>CGC p.H376R NUB1_uc003wjw.2_Missense_Mutation_p.H352R|NUB1_uc010lqc.2_RNA|uc003wjz.1_RNA NM_016118 NP_057202 Q9Y5A7 NUB1_HUMAN NEDD8 ultimate buster-1 352 positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process nucleus protein binding 0 OV - Ovarian serous cystadenocarcinoma(82;0.00569) UCEC - Uterine corpus endometrioid carcinoma (81;0.172) CGAAACTATCACAGTGGAAAT 0.328000 OREG0018452 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) PRKAG2 51422 broad.mit.edu 37 7 151329217 151329217 + Missense_Mutation SNP A A C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr7:151329217A>C uc003wkk.2 - 5 1303 c.692T>G c.(691-693)CTG>CGG p.L231R PRKAG2_uc003wki.2_5'UTR|PRKAG2_uc011kvl.1_Missense_Mutation_p.L107R|PRKAG2_uc003wkj.2_Missense_Mutation_p.L187R|PRKAG2_uc010lqe.1_Intron NM_016203 NP_057287 Q9UGJ0 AAKG2_HUMAN AMP-activated protein kinase gamma2 subunit 231 ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process AMP-activated protein kinase complex|cytosol|nucleoplasm ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding breast(1)|kidney(1) 2 all_neural(206;0.187) all_hematologic(28;0.0605) OV - Ovarian serous cystadenocarcinoma(82;0.00252) UCEC - Uterine corpus endometrioid carcinoma (81;0.185) GGCCGCCGCCAGCGCCGCCTG 0.423000 CTSB 1508 broad.mit.edu 37 8 11703216 11703216 + Silent SNP G G T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr8:11703216G>T uc003wum.2 - 11 1200 c.876C>A c.(874-876)CCC>CCA p.P292P CTSB_uc003wul.2_Silent_p.P229P|CTSB_uc011kxl.1_Silent_p.P213P|CTSB_uc003wun.2_Silent_p.P292P|CTSB_uc003wuo.2_Silent_p.P292P|CTSB_uc003wup.2_Silent_p.P292P|CTSB_uc003wuq.2_Silent_p.P292P|CTSB_uc010lsc.2_Silent_p.P168P|CTSB_uc003wur.2_Silent_p.P292P|CTSB_uc003wus.1_Silent_p.P292P|CTSB_uc003wut.1_Silent_p.P292P|CTSB_uc003wuu.2_3'UTR NM_147780 NP_680090 P07858 CATB_HUMAN cathepsin B preproprotein 292 proteolysis|regulation of apoptosis|regulation of catalytic activity lysosome|melanosome cysteine-type endopeptidase activity 0 all_epithelial(15;0.205) STAD - Stomach adenocarcinoma(15;0.00546) COAD - Colon adenocarcinoma(149;0.184) CCAGCCAGTAGGGTGTGCCAT 0.577000 TUSC3 7991 broad.mit.edu 37 8 15601103 15601103 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr8:15601103G>A uc003wwt.2 + 8 1129 c.919G>A c.(919-921)GAT>AAT p.D307N TUSC3_uc003wwu.2_Missense_Mutation_p.D307N|TUSC3_uc003wwv.2_Missense_Mutation_p.D307N|TUSC3_uc003www.2_Missense_Mutation_p.D307N|TUSC3_uc003wwx.2_RNA|TUSC3_uc003wwy.2_3'UTR NM_006765 NP_006756 Q13454 TUSC3_HUMAN tumor suppressor candidate 3 isoform a 307 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) TTCGAAAGGCGATGTTGGAAA 0.393000 NAT2 10 broad.mit.edu 37 8 18258064 18258064 + Missense_Mutation SNP A A C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr8:18258064A>C uc003wyw.1 + 2 658 c.551A>C c.(550-552)AAG>ACG p.K184T NM_000015 NP_000006 P11245 ARY2_HUMAN N-acetyltransferase 2 184 xenobiotic metabolic process cytosol arylamine N-acetyltransferase activity ovary(1)|skin(1) 2 Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21) CTGCCAAAGAAGAAACACCAA 0.368000 Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of ATP6V1B2 526 broad.mit.edu 37 8 20072357 20072357 + Missense_Mutation SNP G G C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr8:20072357G>C uc003wzp.2 + 10 1170 c.956G>C c.(955-957)GGT>GCT p.G319A NM_001693 NP_001684 P21281 VATB2_HUMAN vacuolar H+ATPase B2 319 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|endomembrane system|Golgi apparatus|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism 0 Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211) GAGGTACCTGGTCGACGAGGT 0.468000 NEFM 4741 broad.mit.edu 37 8 24771944 24771944 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr8:24771944C>T uc003xed.3 + 1 671 c.638C>T c.(637-639)GCG>GTG p.A213V NEFM_uc011lac.1_Missense_Mutation_p.A213V|NEFM_uc010lue.2_5'Flank|uc010luc.1_Missense_Mutation_p.A42T NM_005382 NP_005373 P07197 NFM_HUMAN neurofilament, medium polypeptide 150kDa isoform 213 Rod.|Coil 1B. neurofilament protein binding|structural constituent of cytoskeleton breast(1) 1 Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) ATCGAGGAGGCGTCGCTGGTC 0.647000 SCARA5 286133 broad.mit.edu 37 8 27779236 27779236 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr8:27779236G>A uc003xgj.2 - 4 1208 c.768C>T c.(766-768)AGC>AGT p.S256S SCARA5_uc010luz.2_Intron|SCARA5_uc003xgk.2_Silent_p.S213S|SCARA5_uc003xgl.2_Silent_p.S256S NM_173833 NP_776194 Q6ZMJ2 SCAR5_HUMAN scavenger receptor class A, member 5 256 Extracellular (Potential). cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization integral to plasma membrane ferritin receptor activity|scavenger receptor activity central_nervous_system(1)|skin(1) 2 Ovarian(32;0.0218) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228) GCGTGTCCTCGCTGGCGTTGC 0.706000 KIF13B 23303 broad.mit.edu 37 8 28976394 28976394 + Silent SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr8:28976394A>G uc003xhh.3 - 30 3710 c.3651T>C c.(3649-3651)CAT>CAC p.H1217H uc003xhi.1_Intron NM_015254 NP_056069 Q9NQT8 KI13B_HUMAN kinesin family member 13B 1217 microtubule-based movement|protein targeting|signal transduction|T cell activation cytoplasm|microtubule ATP binding|microtubule motor activity|protein kinase binding 0 Ovarian(32;0.000536) KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181) CCTCCCCATCATGCTGCTTCA 0.463000 MYST3 7994 broad.mit.edu 37 8 41836217 41836217 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr8:41836217C>T uc010lxb.2 - 7 1530 c.986G>A c.(985-987)CGG>CAG p.R329Q MYST3_uc010lxc.2_Missense_Mutation_p.R329Q|MYST3_uc003xon.3_Missense_Mutation_p.R329Q|MYST3_uc010lxd.2_Missense_Mutation_p.R329Q NM_001099412 NP_001092882 Q92794 MYST3_HUMAN MYST histone acetyltransferase (monocytic 329 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) AGTATAGCGCCGTTTTATCTG 0.388000 MYST3 7994 broad.mit.edu 37 8 41839431 41839431 + Nonsense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr8:41839431G>A uc010lxb.2 - 5 1295 c.751C>T c.(751-753)CGA>TGA p.R251* MYST3_uc010lxc.2_Nonsense_Mutation_p.R251*|MYST3_uc003xon.3_Nonsense_Mutation_p.R251*|MYST3_uc010lxd.2_Nonsense_Mutation_p.R251* NM_001099412 NP_001092882 Q92794 MYST3_HUMAN MYST histone acetyltransferase (monocytic 251 PHD-type 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) GCCTTCACTCGAACCGTTAGT 0.428000 PLAG1 5324 broad.mit.edu 37 8 57080658 57080658 + Silent SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr8:57080658T>C uc003xsq.3 - 2 622 c.171A>G c.(169-171)ACA>ACG p.T57T PLAG1_uc003xsr.3_Silent_p.T57T|PLAG1_uc010lyi.2_Silent_p.T57T|PLAG1_uc010lyj.2_Intron NM_001114635 NP_001108107 Q6DJT9 PLAG1_HUMAN pleiomorphic adenoma gene 1 isoform b 57 Interacts with KPNA2.|Decreased nuclear import with localization in the nucleus but also in the cytoplasm. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding CTNNB1/PLAG1(60)|FGFR1_ENST00000447712/PLAG1(28)|CHCHD7/PLAG1(12)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|COL1A2/PLAG1(3)|TCEA1_ENST00000521604/PLAG1(3) salivary_gland(113)|soft_tissue(13)|lung(1)|central_nervous_system(1)|breast(1) 129 all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125) Epithelial(17;0.00179)|all cancers(17;0.0125) GCCTCTCTCCTGTGTGAGAGT 0.398000 T TCEA1|LIFR|CTNNB1|CHCHD7 salivary adenoma CYP7B1 9420 broad.mit.edu 37 8 65527633 65527633 + Missense_Mutation SNP C C A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr8:65527633C>A uc003xvj.2 - 4 1211 c.1007G>T c.(1006-1008)GGA>GTA p.G336V NM_004820 NP_004811 O75881 CP7B1_HUMAN cytochrome P450, family 7, subfamily B, 336 bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity ovary(3) 3 all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215) GATGGGAAATCCAGACCCTTT 0.448000 PREX2 80243 broad.mit.edu 37 8 69030870 69030870 + Missense_Mutation SNP A A T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr8:69030870A>T uc003xxv.1 + 27 3439 c.3412A>T c.(3412-3414)ATG>TTG p.M1138L NM_024870 NP_079146 Q70Z35 PREX2_HUMAN DEP domain containing 2 isoform a 1138 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1) 17 CAGTGATGAAATGGACTCAGG 0.433000 SULF1 23213 broad.mit.edu 37 8 70476305 70476305 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr8:70476305G>A uc010lza.1 + 5 812 c.95G>A c.(94-96)GGA>GAA p.G32E SULF1_uc003xyd.2_Missense_Mutation_p.G32E|SULF1_uc003xye.2_Missense_Mutation_p.G32E|SULF1_uc003xyf.2_Missense_Mutation_p.G32E|SULF1_uc003xyg.2_Missense_Mutation_p.G32E NM_015170 NP_055985 Q8IWU6 SULF1_HUMAN sulfatase 1 precursor 32 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1) 7 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) AGGTTCAGAGGACGGATACAG 0.483000 STAU2 27067 broad.mit.edu 37 8 74515987 74515987 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr8:74515987G>A uc003xzm.2 - 10 1239 c.1003C>T c.(1003-1005)CCT>TCT p.P335S STAU2_uc011lfg.1_Missense_Mutation_p.P163S|STAU2_uc003xzn.2_Missense_Mutation_p.P303S|STAU2_uc011lfh.1_Missense_Mutation_p.P231S|STAU2_uc003xzo.2_Missense_Mutation_p.P335S|STAU2_uc003xzp.2_Missense_Mutation_p.P303S|STAU2_uc011lfi.1_Missense_Mutation_p.P297S|STAU2_uc003xzq.2_Missense_Mutation_p.P115S|STAU2_uc010lzk.2_Missense_Mutation_p.P303S|STAU2_uc010lzl.1_Missense_Mutation_p.P163S NM_014393 NP_055208 Q9NUL3 STAU2_HUMAN staufen homolog 2 isoform e 335 DRBM 4. transport endoplasmic reticulum|microtubule|nucleolus double-stranded RNA binding 0 Breast(64;0.0138) Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972) CGACGTCGAGGCATTCCTCTT 0.433000 DPY19L4 286148 broad.mit.edu 37 8 95751977 95751977 + Nonsense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr8:95751977G>A uc003ygx.2 + 6 694 c.570G>A c.(568-570)TGG>TGA p.W190* DPY19L4_uc003ygy.2_Nonsense_Mutation_p.W127* NM_181787 NP_861452 Q7Z388 D19L4_HUMAN dpy-19-like 4 190 Helical; (Potential). integral to membrane ovary(2) 2 Breast(36;3.85e-06) GTGGAACATGGCTAGCAGGAA 0.343000 RIMS2 9699 broad.mit.edu 37 8 105161049 105161049 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr8:105161049C>T uc003yls.2 + 23 3602 c.3361C>T c.(3361-3363)CGC>TGC p.R1121C RIMS2_uc003ylp.2_Intron|RIMS2_uc003ylw.2_Missense_Mutation_p.R1110C|RIMS2_uc003ylq.2_Intron|RIMS2_uc003ylr.2_Intron NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 1160 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) ACGGAAAAGTCGCAGTGCTTC 0.453000 HNSCC(12;0.0054) TM7SF4 81501 broad.mit.edu 37 8 105361503 105361503 + Missense_Mutation SNP G G T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr8:105361503G>T uc003ylx.1 + 2 772 c.723G>T c.(721-723)AAG>AAT p.K241N NM_030788 NP_110415 Q9H295 TM7S4_HUMAN dendritic cell-specific transmembrane protein 241 osteoclast differentiation cell surface|integral to membrane|plasma membrane pancreas(2)|large_intestine(1)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) GTGGTTGGAAGTATGAAAACA 0.502000 ZHX1 11244 broad.mit.edu 37 8 124265762 124265762 + Missense_Mutation SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr8:124265762T>C uc003yqe.2 - 3 2855 c.2425A>G c.(2425-2427)ATG>GTG p.M809V C8orf76_uc003yqd.2_Intron|ZHX1_uc003yqf.2_Missense_Mutation_p.M809V|ZHX1_uc003yqg.2_Intron|ZHX1_uc010mdi.2_Missense_Mutation_p.M809V NM_007222 NP_009153 Q9UKY1 ZHX1_HUMAN zinc fingers and homeoboxes 1 809 Homeobox 5. negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Lung NSC(37;1.25e-09)|Ovarian(258;0.0154) STAD - Stomach adenocarcinoma(47;0.00527) TCATAGCCCATATGTGATTTG 0.348000 FER1L6 654463 broad.mit.edu 37 8 125083798 125083798 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr8:125083798G>A uc003yqw.2 + 31 4224 c.4018G>A c.(4018-4020)GGG>AGG p.G1340R uc003yqy.1_Intron NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 1340 Cytoplasmic (Potential). integral to membrane ovary(5)|skin(5)|central_nervous_system(1) 11 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) TGAGGACAGCGGGCAGCTGAG 0.517000 TG 7038 broad.mit.edu 37 8 133898733 133898733 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr8:133898733G>A uc003ytw.2 + 9 1157 c.1116G>A c.(1114-1116)TTG>TTA p.L372L NM_003235 NP_003226 P01266 THYG_HUMAN thyroglobulin precursor 372 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1) 15 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) AGCAGGCCTTGTCCAGACTCT 0.502000 WISP1 8840 broad.mit.edu 37 8 134239730 134239730 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr8:134239730G>A uc003yub.2 + 5 957 c.881G>A c.(880-882)CGC>CAC p.R294H WISP1_uc003yuc.2_Missense_Mutation_p.R207H|WISP1_uc010meb.2_Missense_Mutation_p.R122H|WISP1_uc010mec.2_Silent_p.T142T|WISP1_uc010med.2_Missense_Mutation_p.R49H|WISP1_uc003yud.2_RNA NM_003882 NP_003873 O95388 WISP1_HUMAN WNT1 inducible signaling pathway protein 1 294 CTCK. cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway extracellular region|soluble fraction insulin-like growth factor binding central_nervous_system(1)|kidney(1) 2 all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0107) ATCAGCACACGCTCCTATCAA 0.522000 KCNK9 51305 broad.mit.edu 37 8 140631311 140631311 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr8:140631311C>T uc003yvf.1 - 2 379 c.315G>A c.(313-315)GCG>GCA p.A105A KCNK9_uc003yvg.1_Silent_p.A105A|KCNK9_uc003yve.1_RNA NM_016601 NP_057685 Q9NPC2 KCNK9_HUMAN potassium channel, subfamily K, member 9 105 Extracellular (Potential). integral to membrane|membrane fraction potassium channel activity|voltage-gated ion channel activity ovary(2)|lung(1) 3 all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;0.134) BRCA - Breast invasive adenocarcinoma(115;0.0855) AGGCCTTGCCCGCATCGGTGC 0.612000 FLJ43860 389690 broad.mit.edu 37 8 142500242 142500242 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr8:142500242G>A uc003ywi.2 - 5 753 c.672C>T c.(670-672)TAC>TAT p.Y224Y FLJ43860_uc011ljs.1_RNA|FLJ43860_uc010meu.1_RNA NM_207414 NP_997297 Q6ZUA9 Q6ZUA9_HUMAN hypothetical protein LOC389690 224 binding 0 all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) CGCCCATCACGTAGAGGAGGC 0.637000 SCRT1 83482 broad.mit.edu 37 8 145557213 145557213 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr8:145557213G>A uc003zbw.1 - 2 793 c.681C>T c.(679-681)TGC>TGT p.C227C NM_031309 NP_112599 Q9BWW7 SCRT1_HUMAN scratch 227 C2H2-type 2. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.35e-39)|all cancers(56;1.37e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055) ACACCTTGCCGCACGTCGGGC 0.682000 DOCK8 81704 broad.mit.edu 37 9 332438 332438 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr9:332438C>T uc003zgf.2 + 10 1197 c.1085C>T c.(1084-1086)GCA>GTA p.A362V DOCK8_uc011lls.1_Missense_Mutation_p.A362V|DOCK8_uc010mgu.2_5'UTR|DOCK8_uc010mgv.2_Missense_Mutation_p.A294V|DOCK8_uc003zgg.2_Missense_Mutation_p.A294V|DOCK8_uc003zgh.2_RNA NM_203447 NP_982272 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 362 DHR-1. 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) GGAGACTGTGCAGAGCCCTAC 0.328000 DDX58 23586 broad.mit.edu 37 9 32526164 32526164 + Missense_Mutation SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr9:32526164T>C uc003zra.2 - 1 159 c.1A>G c.(1-3)ATG>GTG p.M1V DDX58_uc010mjj.2_RNA|DDX58_uc010mjk.1_Missense_Mutation_p.M1V|DDX58_uc011lnr.1_5'UTR NM_014314 NP_055129 O95786 DDX58_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 1 CARD 1. detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter cytosol ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding ovary(2)|liver(1)|pancreas(1) 4 LUSC - Lung squamous cell carcinoma(29;0.00813) GBM - Glioblastoma multiforme(74;0.00056) TCGGTGGTCATGCCGGCCTCT 0.612000 ZBTB5 9925 broad.mit.edu 37 9 37440593 37440593 + Missense_Mutation SNP C C G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr9:37440593C>G uc003zzx.2 - 2 2156 c.1956G>C c.(1954-1956)CAG>CAC p.Q652H NM_014872 NP_055687 O15062 ZBTB5_HUMAN zinc finger and BTB domain containing 5 652 C2H2-type 2; atypical. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226) GGTGGCTGGACTGACTAAACC 0.488000 TMC1 117531 broad.mit.edu 37 9 75387335 75387335 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr9:75387335G>A uc004aiz.1 + 13 1288 c.748G>A c.(748-750)GCA>ACA p.A250T TMC1_uc010moz.1_Missense_Mutation_p.A208T|TMC1_uc004aja.1_RNA|TMC1_uc004ajb.1_RNA|TMC1_uc004ajc.1_Missense_Mutation_p.A104T|TMC1_uc010mpa.1_Missense_Mutation_p.A104T NM_138691 NP_619636 Q8TDI8 TMC1_HUMAN transmembrane channel-like 1 250 Extracellular (Potential). sensory perception of sound integral to membrane ovary(1) 1 TCAGGGTTTGGCACAATATTC 0.368000 TLE4 7091 broad.mit.edu 37 9 82323572 82323572 + Silent SNP C C A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr9:82323572C>A uc004ald.2 + 14 2058 c.1209C>A c.(1207-1209)CCC>CCA p.P403P TLE4_uc004alc.2_Silent_p.P378P|TLE4_uc010mpr.2_Silent_p.P257P|TLE4_uc004ale.2_Silent_p.P15P|TLE4_uc011lsq.1_Silent_p.P346P|TLE4_uc010mps.2_Silent_p.P302P|TLE4_uc004alf.2_Silent_p.P317P NM_007005 NP_008936 O60756 BCE1_HUMAN transducin-like enhancer protein 4 Error:Variant_position_missing_in_O60756_after_alignment lung(2)|ovary(1)|breast(1)|skin(1) 5 GGATTGTGCCCCATGCTGGAA 0.488000 AGTPBP1 23287 broad.mit.edu 37 9 88190328 88190328 + Silent SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr9:88190328T>C uc011ltd.1 - 24 3438 c.3405A>G c.(3403-3405)TTA>TTG p.L1135L AGTPBP1_uc004aod.3_Silent_p.L761L|AGTPBP1_uc011ltc.1_Intron|AGTPBP1_uc010mqc.2_Silent_p.L1095L|AGTPBP1_uc011lte.1_Silent_p.L1147L NM_015239 NP_056054 Q9UPW5 CBPC1_HUMAN ATP/GTP binding protein 1 1135 C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis cytosol|mitochondrion|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding ovary(4)|large_intestine(2)|skin(1) 7 TTTTCAAACGTAAAAGACCAA 0.358000 ROR2 4920 broad.mit.edu 37 9 94493197 94493197 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr9:94493197G>A uc004arj.1 - 7 1377 c.1178C>T c.(1177-1179)TCG>TTG p.S393L ROR2_uc004ari.1_Missense_Mutation_p.S253L|ROR2_uc004ark.2_Intron NM_004560 NP_004551 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 393 Extracellular (Potential).|Kringle. negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1) 20 CATACTACACGAGGGTACGTC 0.532000 ASPN 54829 broad.mit.edu 37 9 95219673 95219673 + Missense_Mutation SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr9:95219673A>G uc004ase.1 - 8 1284 c.1040T>C c.(1039-1041)ATA>ACA p.I347T CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron|ASPN_uc010mqy.1_3'UTR NM_017680 NP_060150 Q9BXN1 ASPN_HUMAN asporin precursor 347 LRR 10. bone mineralization|negative regulation of tooth mineralization|negative regulation of transforming growth factor beta receptor signaling pathway proteinaceous extracellular matrix calcium ion binding 0 GAATAAACTTATTGCACTGTA 0.388000 ZNF484 83744 broad.mit.edu 37 9 95609710 95609710 + Silent SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr9:95609710T>C uc004asu.1 - 5 1508 c.1359A>G c.(1357-1359)TCA>TCG p.S453S ANKRD19_uc004asr.3_Intron|ZNF484_uc011lub.1_Silent_p.S455S|ZNF484_uc010mrb.1_Silent_p.S417S|ZNF484_uc004asv.1_Silent_p.S417S NM_031486 NP_113674 Q5JVG2 ZN484_HUMAN zinc finger protein 484 isoform a 453 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CATGGAGTTGTGATTTTTTAA 0.383000 SUSD3 203328 broad.mit.edu 37 9 95838255 95838255 + Splice_Site SNP G G A rs141762113 byFrequency TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr9:95838255G>A uc004atb.2 + 2 313 c.277_splice c.e2+1 p.L93_splice SUSD3_uc004atc.2_Splice_Site_p.L80_splice NM_145006 NP_659443 Q96L08 SUSD3_HUMAN sushi domain containing 3 integral to membrane breast(2)|skin(2)|ovary(1)|lung(1) 6 GTGTGCAAACGTAAGGACCCC 0.637000 PTCH1 5727 broad.mit.edu 37 9 98244469 98244469 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr9:98244469G>A uc004avk.3 - 4 789 c.601C>T c.(601-603)CAT>TAT p.H201Y PTCH1_uc010mro.2_Missense_Mutation_p.H50Y|PTCH1_uc010mrp.2_Missense_Mutation_p.H50Y|PTCH1_uc010mrq.2_Missense_Mutation_p.H50Y|PTCH1_uc004avl.3_Missense_Mutation_p.H50Y|PTCH1_uc010mrr.2_Missense_Mutation_p.H135Y|PTCH1_uc004avm.3_Missense_Mutation_p.H200Y|PTCH1_uc010mrs.1_5'Flank|PTCH1_uc010mrt.1_RNA|PTCH1_uc010mru.1_Intron|PTCH1_uc004avo.2_Missense_Mutation_p.H135Y|PTCH1_uc010mrv.1_RNA NM_000264 NP_000255 Q13635 PTC1_HUMAN patched isoform L 201 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 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) TAACACAAATGTTCCAATTTC 0.284000 Basal_Cell_Nevus_syndrome C9orf156 51531 broad.mit.edu 37 9 100678467 100678467 + Missense_Mutation SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr9:100678467A>G uc004axv.1 - 2 307 c.230T>C c.(229-231)CTA>CCA p.L77P C9orf156_uc004axw.1_5'UTR|C9orf156_uc004axx.1_5'UTR|C9orf156_uc010msq.1_5'UTR NM_016481 NP_057565 Q9BU70 NAP1_HUMAN Nef associated protein 1 77 interspecies interaction between organisms hydrolase activity 0 Acute lymphoblastic leukemia(62;0.158) AAACTGTTCTAGGCCCATCAA 0.408000 ANKS6 203286 broad.mit.edu 37 9 101547146 101547146 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr9:101547146C>T uc004ayu.2 - 3 896 c.875G>A c.(874-876)AGG>AAG p.R292K ANKS6_uc004ayt.2_5'UTR|ANKS6_uc004ayx.1_5'Flank|ANKS6_uc004ayy.1_RNA NM_173551 NP_775822 Q68DC2 ANKS6_HUMAN ankyrin repeat and sterile alpha motif domain 292 ANK 8. ovary(2) 2 Acute lymphoblastic leukemia(62;0.0527) ATCAGGTCGCCTTTTCTCCTC 0.353000 COL15A1 1306 broad.mit.edu 37 9 101747954 101747954 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr9:101747954G>A uc004azb.1 + 3 414 c.208G>A c.(208-210)GGG>AGG p.G70R COL15A1_uc004aza.2_Missense_Mutation_p.G70R NM_001855 NP_001846 P39059 COFA1_HUMAN alpha 1 type XV collagen precursor 70 TSP N-terminal. angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding ovary(6) 6 Acute lymphoblastic leukemia(62;0.0562) CTACAGTTTCGGGCCTGGTGC 0.627000 ACTL7A 10881 broad.mit.edu 37 9 111625036 111625036 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr9:111625036C>T uc004bdj.1 + 1 434 c.434C>T c.(433-435)ACA>ATA p.T145I NM_006687 NP_006678 Q9Y615 ACL7A_HUMAN actin-like 7A 145 cytoplasm|cytoskeleton|protein complex structural constituent of cytoskeleton 0 GACTGGGATACAGTGCAGGAT 0.532000 PTPN3 5774 broad.mit.edu 37 9 112207536 112207536 + Silent SNP C C T rs150667989 byFrequency TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr9:112207536C>T uc004bed.2 - 7 562 c.450G>A c.(448-450)GCG>GCA p.A150A PTPN3_uc004beb.2_Silent_p.A19A|PTPN3_uc004bec.2_Silent_p.A19A|PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Silent_p.A150A|PTPN3_uc011lwh.1_Silent_p.A41A NM_002829 NP_002820 P26045 PTN3_HUMAN protein tyrosine phosphatase, non-receptor type 150 FERM. negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle cytoplasm|cytoskeleton|internal side of plasma membrane ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity ovary(3) 3 CGGCATAGGACGCTAGAACCA 0.453000 SVEP1 79987 broad.mit.edu 37 9 113245948 113245948 + Missense_Mutation SNP C C A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr9:113245948C>A uc010mtz.2 - 10 2293 c.1956G>T c.(1954-1956)TGG>TGT p.W652C SVEP1_uc010mua.1_Missense_Mutation_p.W652C|SVEP1_uc004beu.2_Missense_Mutation_p.W652C NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN polydom 652 HYR 2. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding ovary(7) 7 GAGATCTGCACCAGTCTATGA 0.483000 PTGR1 22949 broad.mit.edu 37 9 114345823 114345823 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr9:114345823C>T uc004bfh.2 - 6 527 c.424G>A c.(424-426)GGA>AGA p.G142R PTGR1_uc011lwr.1_Missense_Mutation_p.G142R|PTGR1_uc004bfi.3_Missense_Mutation_p.G142R|PTGR1_uc004bfj.3_Missense_Mutation_p.G19R|PTGR1_uc010mue.2_Missense_Mutation_p.G142R NM_012212 NP_036344 Q14914 PTGR1_HUMAN prostaglandin reductase 1 isoform 1 142 leukotriene metabolic process cytoplasm 15-oxoprostaglandin 13-oxidase activity|2-alkenal reductase activity|alcohol dehydrogenase (NAD) activity|zinc ion binding 0 ACTGTTTCTCCACCCTTCACA 0.448000 ZNF618 114991 broad.mit.edu 37 9 116750765 116750765 + Missense_Mutation SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr9:116750765A>G uc004bid.2 + 3 341 c.242A>G c.(241-243)AAG>AGG p.K81R ZNF618_uc004bib.1_Missense_Mutation_p.K81R|ZNF618_uc004bic.2_Missense_Mutation_p.K81R|ZNF618_uc011lxi.1_Missense_Mutation_p.K81R|ZNF618_uc011lxj.1_Missense_Mutation_p.K81R NM_133374 NP_588615 Q5T7W0 ZN618_HUMAN zinc finger protein 618 81 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GGCGAGGCCAAGGAGGAGAAG 0.627000 PAPPA 5069 broad.mit.edu 37 9 119130012 119130012 + Nonsense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr9:119130012G>A uc004bjn.2 + 19 4965 c.4584G>A c.(4582-4584)TGG>TGA p.W1528* PAPPA_uc011lxq.1_Nonsense_Mutation_p.W903* NM_002581 NP_002572 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A 1528 Sushi 5. cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding ovary(4)|skin(4)|pancreas(1) 9 TCCCCCACTGGCTGAACCCCA 0.512000 DAB2IP 153090 broad.mit.edu 37 9 124532938 124532938 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr9:124532938G>A uc004bln.2 + 11 1998 c.1929G>A c.(1927-1929)CCG>CCA p.P643P DAB2IP_uc004blo.2_Silent_p.P547P|DAB2IP_uc004blp.2_Silent_p.P98P NM_032552 NP_115941 Q5VWQ8 DAB2P_HUMAN disabled homolog 2 interacting protein isoform 671 activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter cytoplasm|intrinsic to internal side of plasma membrane 14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity ovary(1)|central_nervous_system(1) 2 CCTCCACACCGGGCTCTGGCA 0.622000 ZBTB6 10773 broad.mit.edu 37 9 125673938 125673938 + Silent SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr9:125673938T>C uc004bnh.2 - 2 503 c.414A>G c.(412-414)CAA>CAG p.Q138Q NM_006626 NP_006617 Q15916 ZBTB6_HUMAN zinc finger and BTB domain containing 6 138 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GGTCAGTGTGTTGGTTGTTGT 0.373000 TBC1D13 54662 broad.mit.edu 37 9 131568559 131568559 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr9:131568559G>A uc010myj.2 + 11 1229 c.1106G>A c.(1105-1107)GGG>GAG p.G369E TBC1D13_uc010myk.2_Missense_Mutation_p.G244E|TBC1D13_uc010myl.2_Missense_Mutation_p.G188E NM_018201 NP_060671 Q9NVG8 TBC13_HUMAN TBC1 domain family, member 13 369 intracellular Rab GTPase activator activity 0 TTGCTGGAAGGGGACTTCACT 0.627000 BAT2L1 84726 broad.mit.edu 37 9 134322525 134322525 + Silent SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr9:134322525T>C uc004can.3 + 7 964 c.909T>C c.(907-909)TTT>TTC p.F303F BAT2L1_uc010mzj.1_5'Flank|BAT2L1_uc004cam.1_Silent_p.F303F NM_013318 NP_037450 Q5JSZ5 PRC2B_HUMAN HLA-B associated transcript 2-like 303 protein binding 0 GAGGCTCTTTTCCCCTTCCTC 0.473000 GFI1B 8328 broad.mit.edu 37 9 135862760 135862760 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr9:135862760G>A uc004ccg.2 + 3 343 c.192G>A c.(190-192)CCG>CCA p.P64P GFI1B_uc010mzy.2_Silent_p.P64P NM_004188 NP_004179 Q5VTD9 GFI1B_HUMAN growth factor independent 1B transcription 64 cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|zinc ion binding large_intestine(1)|ovary(1)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05) AACGAGAGCCGGAGCTGGAGC 0.617000 SARDH 1757 broad.mit.edu 37 9 136597638 136597638 + Missense_Mutation SNP C C A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr9:136597638C>A uc004cep.3 - 3 551 c.417G>T c.(415-417)GAG>GAT p.E139D SARDH_uc004ceo.2_Missense_Mutation_p.E139D|SARDH_uc011mdn.1_Missense_Mutation_p.E139D|SARDH_uc011mdo.1_Translation_Start_Site NM_001134707 NP_001128179 Q9UL12 SARDH_HUMAN sarcosine dehydrogenase precursor 139 glycine catabolic process mitochondrial matrix aminomethyltransferase activity|sarcosine dehydrogenase activity 0 OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05) GTCCCGTCTCCTCCTCCAGCT 0.672000 RXRA 6256 broad.mit.edu 37 9 137328340 137328340 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr9:137328340G>A uc004cfb.2 + 10 1431 c.1269G>A c.(1267-1269)CCG>CCA p.P423P RXRA_uc004cfc.1_Silent_p.P326P NM_002957 NP_002948 P19793 RXRA_HUMAN retinoid X receptor, alpha 423 Ligand-binding. cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process nuclear chromatin|nucleoplasm enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926) TCCGCCTGCCGGCTCTGCGCT 0.607000 CAMSAP1 157922 broad.mit.edu 37 9 138713536 138713536 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr9:138713536C>T uc004cgr.3 - 11 2971 c.2971G>A c.(2971-2973)GTG>ATG p.V991M CAMSAP1_uc004cgq.3_Missense_Mutation_p.V881M|CAMSAP1_uc010nbg.2_Missense_Mutation_p.V713M NM_015447 NP_056262 Q5T5Y3 CAMP1_HUMAN calmodulin regulated spectrin-associated protein 991 cytoplasm|microtubule ovary(1)|central_nervous_system(1)|pancreas(1) 3 OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05) TGCAGAGCCACAGGGTCTTTT 0.537000 SLC34A3 142680 broad.mit.edu 37 9 140127502 140127502 + Silent SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr9:140127502A>G uc004cmf.1 + 6 681 c.495A>G c.(493-495)GTA>GTG p.V165V SLC34A3_uc004cmc.1_Silent_p.V22V|SLC34A3_uc004cmd.1_Silent_p.V165V|SLC34A3_uc011met.1_Silent_p.V165V NM_080877 NP_543153 Q8N130 NPT2C_HUMAN solute carrier family 34 (sodium phosphate), 165 Cytoplasmic (Potential). cellular phosphate ion homeostasis apical plasma membrane|integral to membrane sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity 0 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057) GTGTCAACGTAGGCACATCCA 0.647000 P2RY8 286530 broad.mit.edu 37 X 1584882 1584882 + Missense_Mutation SNP C C A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chrX:1584882C>A uc004cpz.2 - 2 818 c.570G>T c.(568-570)TGG>TGT p.W190C NM_178129 NP_835230 Q86VZ1 P2RY8_HUMAN G-protein coupled purinergic receptor P2Y8 190 Helical; Name=5; (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled lung(5) 5 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) GGAACACGGCCCACATGGCCA 0.617000 T CRLF2 B-ALL|Downs associated ALL PCYT1B 9468 broad.mit.edu 37 X 24608251 24608251 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chrX:24608251G>A uc004dbi.2 - 4 608 c.375C>T c.(373-375)ACC>ACT p.T125T PCYT1B_uc004dbk.3_Silent_p.T125T|PCYT1B_uc004dbj.2_Silent_p.T107T NM_004845 NP_004836 Q9Y5K3 PCY1B_HUMAN choline phosphate cytidylyltransferase 1 beta 125 Catalytic (Potential). endoplasmic reticulum choline-phosphate cytidylyltransferase activity 0 Choline(DB00122) CATTCATCACGGTGAAACCTT 0.493000 FAM47B 170062 broad.mit.edu 37 X 34962029 34962029 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chrX:34962029C>T uc004ddi.1 + 1 1099 c.1081C>T c.(1081-1083)CGG>TGG p.R361W NM_152631 NP_689844 Q8NA70 FA47B_HUMAN hypothetical protein LOC170062 361 ovary(3)|breast(1) 4 GGAAGACGCACGGGCTCGTTG 0.532000 DDX3X 1654 broad.mit.edu 37 X 41201759 41201759 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chrX:41201759G>A uc004dfe.2 + 5 1151 c.296G>A c.(295-297)CGT>CAT p.R99H DDX3X_uc010nhf.1_Missense_Mutation_p.R83H|DDX3X_uc004dff.2_Missense_Mutation_p.R99H|DDX3X_uc011mkq.1_Missense_Mutation_p.R83H|DDX3X_uc011mkr.1_Missense_Mutation_p.R99H|DDX3X_uc011mks.1_Missense_Mutation_p.R99H|DDX3X_uc004dfg.2_RNA|DDX3X_uc011mkt.1_RNA NM_001356 NP_001347 O00571 DDX3X_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3 99 interspecies interaction between organisms cytoplasm|nuclear speck ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding ovary(2)|breast(2)|central_nervous_system(1)|skin(1) 6 TTTGATGATCGTGGACGGAGT 0.423000 HNSCC(61;0.18) AR 367 broad.mit.edu 37 X 66765081 66765081 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chrX:66765081C>T uc004dwu.1 + 1 1208 c.93C>T c.(91-93)CGC>CGT p.R31R AR_uc011mpd.1_Silent_p.R31R|AR_uc011mpe.1_RNA|AR_uc011mpf.1_Silent_p.R31R NM_000044 NP_000035 P10275 ANDR_HUMAN androgen receptor isoform 1 31 Modulating. cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport cytoplasm|nuclear chromatin|nucleoplasm androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding ovary(3)|lung(2)|breast(2)|central_nervous_system(1) 8 all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102) all_lung(315;1.3e-11) Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624) AGAGCGTGCGCGAAGTGATCC 0.572000 Androgen_Insensitivity_Syndrome PCDH11X 27328 broad.mit.edu 37 X 91873424 91873424 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chrX:91873424C>T uc004efk.1 + 7 4374 c.3529C>T c.(3529-3531)CTG>TTG p.L1177L PCDH11X_uc004efl.1_Silent_p.L1167L|PCDH11X_uc004efo.1_Silent_p.L1140L|PCDH11X_uc010nmv.1_3'UTR|PCDH11X_uc004efm.1_Silent_p.L1169L|PCDH11X_uc004efn.1_Silent_p.L1159L NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 1177 Cytoplasmic (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 CAGCCCACCACTGTCACAGGC 0.572000 CSTF2 1478 broad.mit.edu 37 X 100077380 100077380 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chrX:100077380C>T uc004egh.2 + 3 336 c.278C>T c.(277-279)GCC>GTC p.A93V CSTF2_uc010nnd.2_Missense_Mutation_p.A93V|CSTF2_uc004egi.2_Missense_Mutation_p.A93V NM_001325 NP_001316 P33240 CSTF2_HUMAN cleavage stimulation factor subunit 2 93 RRM. mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription cleavage body|mRNA cleavage and polyadenylation specificity factor complex nucleotide binding|protein binding|protein binding|RNA binding skin(1) 1 GACAATGCTGCCAGTGAAAAG 0.443000 DCAF12L1 139170 broad.mit.edu 37 X 125685490 125685490 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chrX:125685490C>T uc004eul.2 - 1 1353 c.1102G>A c.(1102-1104)GGT>AGT p.G368S NM_178470 NP_848565 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 368 WD 4. skin(3)|ovary(1) 4 GAGCCCTGACCGGTGCCCACA 0.632000 IGSF1 3547 broad.mit.edu 37 X 130408768 130408768 + Missense_Mutation SNP G G T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chrX:130408768G>T uc004ewd.2 - 18 3794 c.3556C>A c.(3556-3558)CCC>ACC p.P1186T IGSF1_uc004ewe.3_Missense_Mutation_p.P1180T|IGSF1_uc004ewf.2_Missense_Mutation_p.P1166T NM_001555 NP_001546 Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 isoform 1 1186 Extracellular (Potential).|Ig-like C2-type 12. regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding ovary(3)|lung(1)|central_nervous_system(1) 5 CCTGGCAGGGGTCCTCGGCAC 0.502000 LDOC1 23641 broad.mit.edu 37 X 140271020 140271020 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chrX:140271020G>A uc004fbj.2 - 1 291 c.187C>T c.(187-189)CGG>TGG p.R63W NM_012317 NP_036449 O95751 LDOC1_HUMAN leucine zipper, down-regulated in cancer 1 63 negative regulation of cell proliferation nucleus protein binding 0 Acute lymphoblastic leukemia(192;7.65e-05) TCGGGGAGCCGGGAGCTCTCG 0.622000 CXorf40B 541578 broad.mit.edu 37 X 149101879 149101879 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chrX:149101879G>A uc004fdy.2 - 4 730 c.214C>T c.(214-216)CTC>TTC p.L72F CXorf40B_uc011mxs.1_RNA NM_001013845 NP_001013867 Q96DE9 CX04B_HUMAN hypothetical protein LOC541578 72 0 Acute lymphoblastic leukemia(192;6.56e-05) CCTTTCCTGAGCAAGGCCTGA 0.562000 CXorf40B 541578 broad.mit.edu 37 X 149101975 149101975 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chrX:149101975C>T uc004fdy.2 - 4 634 c.118G>A c.(118-120)GCC>ACC p.A40T CXorf40B_uc011mxs.1_RNA NM_001013845 NP_001013867 Q96DE9 CX04B_HUMAN hypothetical protein LOC541578 40 0 Acute lymphoblastic leukemia(192;6.56e-05) ATGTGGACGGCGATGGTACAG 0.587000 ZNF185 7739 broad.mit.edu 37 X 152085675 152085675 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chrX:152085675G>A uc010ntv.1 + 4 262 c.225G>A c.(223-225)AGG>AGA p.R75R ZNF185_uc011myg.1_Silent_p.R75R|ZNF185_uc011myh.1_Silent_p.R75R|ZNF185_uc011myi.1_Silent_p.R75R|ZNF185_uc011myj.1_Silent_p.R75R|ZNF185_uc011myk.1_Silent_p.R75R|ZNF185_uc004fgw.3_5'Flank|ZNF185_uc004fgu.2_5'Flank NM_007150 NP_009081 O15231 ZN185_HUMAN zinc finger protein 185 75 cytoplasm|cytoskeleton|focal adhesion zinc ion binding ovary(3) 3 Acute lymphoblastic leukemia(192;6.56e-05) TCTTCGGCAGGCCTCCGAGCA 0.572000 CTAG2 30848 broad.mit.edu 37 X 153881608 153881608 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chrX:153881608G>A uc004fmi.1 - 1 235 c.182C>T c.(181-183)CCG>CTG p.P61L CTAG2_uc004fmh.1_Missense_Mutation_p.P61L NM_020994 NP_066274 O75638 CTAG2_HUMAN cancer/testis antigen 2 isoform LAGE-1b 61 Gly-rich. centrosome pancreas(1) 1 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CGGACCCCGCGGGGCGCCTCC 0.746000 BRCC3 79184 broad.mit.edu 37 X 154305518 154305518 + Missense_Mutation SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chrX:154305518T>C uc004fna.2 + 4 362 c.269T>C c.(268-270)GTA>GCA p.V90A BRCC3_uc011mzy.1_Missense_Mutation_p.V91A|BRCC3_uc011mzz.1_RNA|BRCC3_uc004fnb.2_Missense_Mutation_p.V90A NM_024332 NP_077308 P46736 BRCC3_HUMAN BRCA1/BRCA2-containing complex, subunit 3 90 double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|positive regulation of DNA repair|response to X-ray BRCA1-A complex|BRISC complex|nuclear ubiquitin ligase complex enzyme regulator activity|metal ion binding|metallopeptidase activity|polyubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity lung(3)|ovary(1)|large_intestine(1)|breast(1) 6 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) AAGGACCGAGTAGAAATTTCT 0.448000 USP9Y 8287 broad.mit.edu 37 Y 14951943 14951943 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chrY:14951943G>A uc004fst.1 + 36 6436 c.5491G>A c.(5491-5493)GTA>ATA p.V1831I USP9Y_uc010nwu.1_RNA NM_004654 NP_004645 O00507 USP9Y_HUMAN ubiquitin specific protease 9, Y-linked 1831 BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity 0 ACCTTACACAGTAGCAGGTGT 0.393000 ZCCHC11 23318 broad.mit.edu 37 1 52924124 52924124 + Splice_Site DEL A A - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr1:52924123_52924123TA>T uc001cty.2 - 20 3575 c.3322_splice c.e20-1 p.R1108_splice ZCCHC11_uc001ctx.2_Splice_Site_p.R1108_splice|ZCCHC11_uc009vze.1_Splice_Site_p.R1108_splice|ZCCHC11_uc009vzf.1_Intron NM_001009881 NP_001009881 Q5TAX3 TUT4_HUMAN Homo sapiens zinc finger, CCHC domain containing 11 (ZCCHC11), transcript variant 1, mRNA. 1108 RNA 3'-end processing|miRNA catabolic process|pre-miRNA processing|stem cell maintenance cytoplasm|nucleolus RNA uridylyltransferase activity|nucleic acid binding|protein binding|zinc ion binding NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 GTCACATCGCTAAAAAACAAC 0.388 USP34 9736 broad.mit.edu 37 2 61577527 61577527 + Splice_Site DEL A A - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr2:61577526_61577526TA>T uc002sbe.3 - 12 1400 c.1378_splice c.e12-1 p.T460_splice NM_014709 NP_055524 Q70CQ2 UBP34_HUMAN Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA. 460 Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) GTACAGTGTCTAAAAAAAAGA 0.338 MMAB 326625 broad.mit.edu 37 12 109999660 109999660 + Splice_Site DEL G G - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr12:109999659_109999659TG>T uc001tou.3 - 5 422 c.349_splice c.e5-1 p.I117_splice MMAB_uc001tov.3_Splice_Site|MMAB_uc010sxq.2_Splice_Site_p.I26_splice NM_052845 NP_443077 Q96EY8 MMAB_HUMAN Homo sapiens methylmalonic aciduria (cobalamin deficiency) cblB type (MMAB), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 117 cobalamin biosynthetic process mitochondrion ATP binding|cob(I)yrinic acid a,c-diamide adenosyltransferase activity cervix(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1) 6 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GCACTGGATCTGGGGGGCGAC 0.577 GPR61 83873 broad.mit.edu 37 1 110086456 110086456 + Frame_Shift_Del DEL C C - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr1:110086456delC uc001dxy.2 + 2 1495 c.812delC c.(811-813)GCCfs p.A271fs NM_031936 NP_114142 Q9BZJ8 GPR61_HUMAN G protein-coupled receptor 61 271 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(2) 2 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228) AGCTCGGGGGCCCCCCAGACC 0.662 KCNN3 3782 broad.mit.edu 37 1 154842106 154842106 + Frame_Shift_Del DEL G G - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr1:154842106delG uc001ffp.2 - 1 649 c.335delC c.(334-336)CCTfs p.P112fs KCNN3_uc009wox.1_Frame_Shift_Del_p.P112fs NM_002249 NP_002240 Q9UGI6 KCNN3_HUMAN small conductance calcium-activated potassium 117 integral to membrane calmodulin binding lung(1) 1 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) GTTGGACGAAGGGGGGGCCCT 0.612 DDX50 79009 broad.mit.edu 37 10 70673882 70673882 + Frame_Shift_Del DEL A A - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr10:70673882delA uc001jou.2 + 7 1118 c.1011delA c.(1009-1011)GCAfs p.A337fs DDX50_uc001jot.2_Frame_Shift_Del_p.A337fs|DDX50_uc010qjc.1_Frame_Shift_Del_p.A337fs NM_024045 NP_076950 Q9BQ39 DDX50_HUMAN nucleolar protein GU2 337 Helicase ATP-binding. nucleolus ATP binding|ATP-dependent helicase activity|RNA binding ovary(1) 1 ACAAAGTTGCAAAAAAATACA 0.343 C10orf54 64115 broad.mit.edu 37 10 73511467 73511467 + Frame_Shift_Del DEL G G - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr10:73511467delG uc001jsd.2 - 6 997 c.856delC c.(856-858)CTGfs p.L286fs CDH23_uc001jrx.3_Intron|C10orf54_uc001jse.2_Frame_Shift_Del_p.L154fs|C10orf54_uc009xqm.2_Frame_Shift_Del_p.L124fs NM_022153 NP_071436 Q9H7M9 GI24_HUMAN platelet receptor Gi24 precursor 286 Cytoplasmic (Potential). integral to membrane receptor activity ovary(1)|breast(1)|central_nervous_system(1) 3 GGAGGAGACAGGGGGGTGCTG 0.617 CPEB3 22849 broad.mit.edu 37 10 93999953 93999953 + Frame_Shift_Del DEL G G - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr10:93999953delG uc001khw.1 - 2 328 c.155delC c.(154-156)GCAfs p.A52fs CPEB3_uc001khu.1_Frame_Shift_Del_p.A52fs|CPEB3_uc001khv.1_Frame_Shift_Del_p.A52fs|CPEB3_uc010qnn.1_Frame_Shift_Del_p.A52fs NM_014912 NP_055727 Q8NE35 CPEB3_HUMAN cytoplasmic polyadenylation element binding 52 Pro-rich. nucleotide binding|RNA binding 0 Colorectal(252;0.0869) GGCCGGCACTGCGCTGTTTTC 0.597 PSD 5662 broad.mit.edu 37 10 104176197 104176197 + Frame_Shift_Del DEL G G - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr10:104176197delG uc001kvg.1 - 2 1126 c.599delC c.(598-600)CCTfs p.P200fs PSD_uc001kvh.1_5'UTR|PSD_uc009xxd.1_Frame_Shift_Del_p.P200fs|PSD_uc001kvi.1_Frame_Shift_Del_p.P200fs|FBXL15_uc001kvj.1_5'Flank NM_002779 NP_002770 A5PKW4 PSD1_HUMAN pleckstrin and Sec7 domain containing 200 regulation of ARF protein signal transduction cytoplasm|plasma membrane|ruffle ARF guanyl-nucleotide exchange factor activity|signal transducer activity breast(2)|urinary_tract(1) 3 Epithelial(162;1.27e-08)|all cancers(201;2.85e-07) CAGGCGCTCAGGGGGGCCCCC 0.652 OR2D3 120775 broad.mit.edu 37 11 6942990 6942991 + Frame_Shift_Ins INS - - T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr11:6942990_6942991insT uc010rav.1 + 1 758_759 c.758_759insT c.(757-759)GCTfs p.A253fs NM_001004684 NP_001004684 Q8NGH3 OR2D3_HUMAN olfactory receptor, family 2, subfamily D, 253 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) AGACTCAAGGCTTTTTCCACCT 0.465 DCP1B 196513 broad.mit.edu 37 12 2062122 2062122 + Frame_Shift_Del DEL A A - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr12:2062122delA uc001qjx.1 - 7 1064 c.984delT c.(982-984)TTTfs p.F328fs DCP1B_uc010sdy.1_Frame_Shift_Del_p.F226fs NM_152640 NP_689853 Q8IZD4 DCP1B_HUMAN decapping enzyme Dcp1b 328 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|nucleus hydrolase activity|protein binding skin(1) 1 OV - Ovarian serous cystadenocarcinoma(31;0.00193) CAGGTCCTGTAAAAAATTCTC 0.493 GPR162 27239 broad.mit.edu 37 12 6936082 6936082 + Frame_Shift_Del DEL C C - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr12:6936082delC uc001qqw.1 + 5 2015 c.1480delC c.(1480-1482)CCCfs p.P494fs LEPREL2_uc001qqz.1_5'Flank|LEPREL2_uc001qra.1_5'Flank|LEPREL2_uc001qrb.1_5'Flank|GPR162_uc001qqx.1_Frame_Shift_Del_p.P210fs|GPR162_uc009zfd.1_Frame_Shift_Del_p.P190fs|GPR162_uc001qqy.1_Intron NM_019858 NP_062832 Q16538 GP162_HUMAN G protein-coupled receptor 162 isoform 2 494 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 AGGTGGGGGACCCCCACGGGG 0.637 ABCD2 225 broad.mit.edu 37 12 39997743 39997745 + In_Frame_Del DEL CTC CTC - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr12:39997743_39997745delCTC uc001rmb.2 - 5 1895_1897 c.1469_1471delGAG c.(1468-1473)GGAGAA>GAA p.G490del NM_005164 NP_005155 Q9UBJ2 ABCD2_HUMAN ATP-binding cassette, sub-family D, member 2 490 ABC transporter. fatty acid metabolic process|transport ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane ATP binding|ATPase activity|protein binding ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)|skin(1) 6 GCCACCACTTCTCCTGCTGGTGT 0.340 KLF5 688 broad.mit.edu 37 13 73636730 73636730 + Frame_Shift_Del DEL A A - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr13:73636730delA uc001vje.2 + 2 1317 c.993delA c.(991-993)ACAfs p.T331fs KLF5_uc001vjd.2_Frame_Shift_Del_p.T240fs NM_001730 NP_001721 Q13887 KLF5_HUMAN Kruppel-like factor 5 331 transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1)|pancreas(1) 3 Prostate(6;0.00187)|Breast(118;0.0735) GBM - Glioblastoma multiforme(99;0.0011) ATGCTGCTACAATTGCTTCTA 0.463 CLYBL 171425 broad.mit.edu 37 13 100543659 100543660 + Frame_Shift_Ins INS - - A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr13:100543659_100543660insA uc001vok.2 + 8 1029_1030 c.1015_1016insA c.(1015-1017)GAAfs p.E339fs NM_206808 NP_996531 Q8N0X4 CLYBL_HUMAN citrate lyase beta like precursor 339 cellular aromatic compound metabolic process citrate lyase complex|mitochondrion citrate (pro-3S)-lyase activity|metal ion binding 0 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CTCCATCAAGGAAAAATGATCT 0.450 PCK2 5106 broad.mit.edu 37 14 24567477 24567479 + In_Frame_Del DEL CTT CTT - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr14:24567477_24567479delCTT uc001wlt.2 + 3 473_475 c.341_343delCTT c.(340-345)CCTTCT>CCT p.S115del NRL_uc001wlq.2_Intron|PCK2_uc001wlr.1_In_Frame_Del_p.S127del|PCK2_uc001wls.2_In_Frame_Del_p.S115del|PCK2_uc010tnw.1_5'UTR|PCK2_uc010ald.2_5'UTR|PCK2_uc010ale.2_5'UTR|PCK2_uc010tnx.1_5'UTR|PCK2_uc001wlu.3_5'UTR NM_004563 NP_004554 Q16822 PCKGM_HUMAN mitochondrial phosphoenolpyruvate carboxykinase 115 gluconeogenesis mitochondrial matrix GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity ovary(1) 1 GBM - Glioblastoma multiforme(265;0.0184) ATTGTAACTCCTTCTCAGCGGGA 0.616 TRPM7 54822 broad.mit.edu 37 15 50931657 50931658 + Frame_Shift_Ins INS - - C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr15:50931657_50931658insC uc001zyt.3 - 6 887_888 c.623_624insG c.(622-624)GGAfs p.G208fs TRPM7_uc010bew.1_Frame_Shift_Ins_p.G208fs NM_017672 NP_060142 Q96QT4 TRPM7_HUMAN transient receptor potential cation channel, 208 Cytoplasmic (Potential). cell death integral to membrane ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity ovary(4)|stomach(3)|breast(1)|central_nervous_system(1)|skin(1) 10 all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045) TTTCAATCACTCCCCATGGAGC 0.327 AKAP13 11214 broad.mit.edu 37 15 86278855 86278855 + Frame_Shift_Del DEL A A - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr15:86278855delA uc002blv.1 + 32 7676 c.7506delA c.(7504-7506)CTAfs p.L2502fs AKAP13_uc002blu.1_Frame_Shift_Del_p.L2506fs|AKAP13_uc002blw.1_Frame_Shift_Del_p.L967fs|AKAP13_uc002blx.1_Frame_Shift_Del_p.L747fs NM_007200 NP_009131 Q12802 AKP13_HUMAN A-kinase anchor protein 13 isoform 2 2502 Interaction with ESR1. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1) 9 ATAGTGGCCTAAAAAAGGTAT 0.358 SNX29 92017 broad.mit.edu 37 16 12492337 12492338 + Frame_Shift_Del DEL AG AG - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr16:12492337_12492338delAG uc002dby.3 + 10 835_836 c.779_780delAG c.(778-780)CAGfs p.Q260fs NM_001080530 NP_001073999 Q8TEQ0 SNX29_HUMAN sorting nexin 29 260 cell communication phosphatidylinositol binding ovary(1) 1 TCCGAAGACCAGAGTTTGTCGG 0.475 RNF167 26001 broad.mit.edu 37 17 4844271 4844272 + Frame_Shift_Ins INS - - G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr17:4844271_4844272insG uc002fzq.2 + 3 483_484 c.67_68insG c.(67-69)CGGfs p.R23fs SLC25A11_uc002fzo.1_5'Flank|SLC25A11_uc002fzp.1_5'Flank|RNF167_uc002fzr.2_Frame_Shift_Ins_p.R23fs|RNF167_uc002fzs.2_Frame_Shift_Ins_p.R23fs|RNF167_uc002fzt.2_Frame_Shift_Ins_p.R23fs|RNF167_uc002fzu.2_Frame_Shift_Ins_p.R23fs|RNF167_uc002fzv.2_5'UTR|RNF167_uc002fzw.1_5'UTR|RNF167_uc002fzx.2_5'UTR|RNF167_uc002fzy.2_5'Flank NM_015528 NP_056343 Q9H6Y7 RN167_HUMAN ring finger protein 167 precursor 23 negative regulation of cell cycle|protein polyubiquitination cytoplasm|endomembrane system|integral to membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding 0 GGCCCCGACCCGGGGGCTCATT 0.653 TLE2 7089 broad.mit.edu 37 19 3013795 3013796 + Frame_Shift_Ins INS - - G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr19:3013795_3013796insG uc002lww.2 - 11 1007_1008 c.744_745insC c.(742-747)CCCAGCfs p.P248fs TLE2_uc010xhb.1_5'UTR|TLE2_uc010dth.2_Frame_Shift_Ins_p.P249fs|TLE2_uc010xhc.1_Frame_Shift_Ins_p.P126fs|TLE2_uc010dti.2_Frame_Shift_Ins_p.P262fs|TLE2_uc010xhd.1_Frame_Shift_Ins_p.P156fs NM_003260 NP_003251 Q04725 TLE2_HUMAN transducin-like enhancer protein 2 isoform 1 248_249 CCN domain. negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding|transcription corepressor activity 0 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) GTAGCCGGGCTGGGGGGCTCTG 0.609 TSHZ3 57616 broad.mit.edu 37 19 31768896 31768896 + Frame_Shift_Del DEL G G - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr19:31768896delG uc002nsy.3 - 2 1868 c.1803delC c.(1801-1803)CCCfs p.P601fs NM_020856 NP_065907 Q63HK5 TSH3_HUMAN zinc finger protein 537 601 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) TCTTGGGCATGGGGGACGTCT 0.547 PPP1R12C 54776 broad.mit.edu 37 19 55607456 55607456 + Frame_Shift_Del DEL G G - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr19:55607456delG uc002qix.2 - 8 1132 c.1116delC c.(1114-1116)CCCfs p.P372fs PPP1R12C_uc010yfs.1_Frame_Shift_Del_p.P298fs|PPP1R12C_uc002qiy.2_Frame_Shift_Del_p.P372fs NM_017607 NP_060077 Q9BZL4 PP12C_HUMAN protein phosphatase 1, regulatory subunit 12C 372 cytoplasm ovary(1)|central_nervous_system(1) 2 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0449) CGTCCTGGATGGGGGGCCCCC 0.642 ZSCAN18 65982 broad.mit.edu 37 19 58596141 58596141 + Frame_Shift_Del DEL G G - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr19:58596141delG uc002qri.2 - 7 1753 c.1444delC c.(1444-1446)CGCfs p.R482fs ZSCAN18_uc002qrj.3_Frame_Shift_Del_p.R481fs|ZSCAN18_uc010yhs.1_Frame_Shift_Del_p.R346fs|ZSCAN18_uc002qrh.2_Frame_Shift_Del_p.R482fs|ZSCAN18_uc010yht.1_Frame_Shift_Del_p.R538fs|ZSCAN18_uc002qrk.1_3'UTR|ZSCAN18_uc002qrl.2_3'UTR NM_001145543 NP_001139015 Q8TBC5 ZSC18_HUMAN zinc finger and SCAN domain containing 18 482 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) TGGGCTTCGCGGGTGGACGGT 0.726 SMC6 79677 broad.mit.edu 37 2 17913083 17913084 + Frame_Shift_Del DEL AC AC - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr2:17913083_17913084delAC uc002rco.2 - 6 701_702 c.405_406delGT c.(403-408)GTGTATfs p.V135fs SMC6_uc010exo.2_Frame_Shift_Del_p.V135fs|SMC6_uc002rcn.2_Frame_Shift_Del_p.V135fs|SMC6_uc002rcp.1_Frame_Shift_Del_p.V161fs|SMC6_uc002rcq.2_Frame_Shift_Del_p.V161fs|SMC6_uc002rcr.1_Frame_Shift_Del_p.V135fs NM_001142286 NP_001135758 Q96SB8 SMC6_HUMAN SMC6 protein 135_136 DNA recombination|DNA repair chromosome|nucleus ATP binding breast(4)|upper_aerodigestive_tract(1)|kidney(1) 6 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) GAGTTACCATACACACTGGCTT 0.361 SAP130 79595 broad.mit.edu 37 2 128767857 128767859 + In_Frame_Del DEL AGT AGT - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr2:128767857_128767859delAGT uc002tpp.2 - 7 1063_1065 c.931_933delACT c.(931-933)ACTdel p.T311del SAP130_uc002tpn.2_In_Frame_Del_p.T72del|SAP130_uc002tpo.2_In_Frame_Del_p.T56del|SAP130_uc010fmd.2_In_Frame_Del_p.T311del|SAP130_uc002tpq.1_In_Frame_Del_p.T285del NM_024545 NP_078821 Q9H0E3 SP130_HUMAN Sin3A-associated protein, 130kDa isoform b 311 histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity ovary(2)|skin(2) 4 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0771) GTGCTGAATCAGTAGCATGCGCC 0.463 ACVR2A 92 broad.mit.edu 37 2 148680608 148680608 + Frame_Shift_Del DEL T T - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr2:148680608delT uc002twg.2 + 10 1413 c.1144delT c.(1144-1146)TTTfs p.F382fs ACVR2A_uc010zbn.1_Frame_Shift_Del_p.F274fs|ACVR2A_uc002twh.2_Frame_Shift_Del_p.F382fs NM_001616 NP_001607 P27037 AVR2A_HUMAN activin A receptor, type IIA precursor 382 Cytoplasmic (Potential).|Protein kinase. activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity stomach(8)|large_intestine(2)|lung(1)|breast(1)|kidney(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.0969) AAGGGATGCATTTTTGAGGAT 0.398 SPEG 10290 broad.mit.edu 37 2 220313756 220313756 + Frame_Shift_Del DEL C C - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr2:220313756delC uc010fwg.2 + 4 1876 c.1876delC c.(1876-1878)CCCfs p.P626fs SPEG_uc002vlm.2_RNA|SPEG_uc010fwh.1_5'UTR|SPEG_uc002vln.1_5'UTR|SPEG_uc002vlp.1_5'Flank NM_005876 NP_005867 Q15772 SPEG_HUMAN SPEG complex locus 626 Pro-rich. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity stomach(9)|ovary(4)|central_nervous_system(1) 14 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) GACGAAAGCACCCCCCGGTCG 0.731 OREG0003998 type=REGULATORY REGION|Gene=AK097321|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay SLC4A11 83959 broad.mit.edu 37 20 3215425 3215425 + Frame_Shift_Del DEL A A - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr20:3215425delA uc002wig.2 - 2 300 c.252delT c.(250-252)TTTfs p.F84fs SLC4A11_uc010zqe.1_Frame_Shift_Del_p.F111fs|SLC4A11_uc002wih.2_RNA|SLC4A11_uc010zqf.1_Frame_Shift_Del_p.F68fs NM_032034 NP_114423 Q8NBS3 S4A11_HUMAN solute carrier family 4 member 11 84 Cytoplasmic (Potential). cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system basolateral plasma membrane|integral to membrane bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity ovary(1) 1 TGACATTGACAAAAAAACGGA 0.587 GTPBP5 26164 broad.mit.edu 37 20 60770930 60770931 + Frame_Shift_Del DEL CA CA - rs11700220 byFrequency TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr20:60770930_60770931delCA uc002yce.3 + 3 315_316 c.277_278delCA c.(277-279)CACfs p.H93fs GTPBP5_uc011aab.1_5'UTR|GTPBP5_uc011aac.1_5'UTR|GTPBP5_uc011aad.1_5'UTR|GTPBP5_uc011aae.1_5'UTR|GTPBP5_uc011aaf.1_Frame_Shift_Del_p.H93fs|GTPBP5_uc011aag.1_Frame_Shift_Del_p.H93fs NM_015666 NP_056481 Q9H4K7 GTPB5_HUMAN GTP binding protein 5 93 Localized in the mitocondria.|Not localized in the mitocondria. ribosome biogenesis mitochondrion GTP binding|GTPase activity|magnesium ion binding 0 Breast(26;3.52e-09) BRCA - Breast invasive adenocarcinoma(19;2.5e-08) AAGCTGCTTCCACAGTGAGCCC 0.584 PRR5-ARHGAP8 553158 broad.mit.edu 37 22 45127647 45127649 + In_Frame_Del DEL CTT CTT - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr22:45127647_45127649delCTT uc003bfd.2 + 5 632_634 c.360_362delCTT c.(358-363)GACTTC>GAC p.F123del PRR5_uc003bew.1_In_Frame_Del_p.F114del|PRR5_uc003bex.1_In_Frame_Del_p.F28del|PRR5_uc010gzt.1_In_Frame_Del_p.F146del|PRR5_uc010gzu.1_In_Frame_Del_p.F87del|PRR5_uc003bey.1_In_Frame_Del_p.F114del|PRR5_uc003bez.1_In_Frame_Del_p.F28del|PRR5-ARHGAP8_uc003bfc.2_Intron|PRR5-ARHGAP8_uc011aqi.1_Intron|PRR5-ARHGAP8_uc011aqj.1_Intron|PRR5_uc003bfa.1_In_Frame_Del_p.F16del|PRR5_uc003bfb.1_In_Frame_Del_p.F123del|PRR5_uc003bfe.1_RNA|PRR5-ARHGAP8_uc003bfg.1_Intron|PRR5_uc003bfh.1_In_Frame_Del_p.F22del NM_181335 NP_851852 Rho GTPase activating protein 8 isoform 2 skin(2) 2 AGACCTGGGACTTCTTCTTCAGT 0.660 NUP210 23225 broad.mit.edu 37 3 13438890 13438890 + Frame_Shift_Del DEL G G - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr3:13438890delG uc003bxv.1 - 3 486 c.403delC c.(403-405)CTGfs p.L135fs NM_024923 NP_079199 Q8TEM1 PO210_HUMAN nucleoporin 210 precursor 135 Lumenal (Probable). carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1) 11 all_neural(104;0.187) TTCAGCTCCAGGGGGGAGTCC 0.602 WDR48 57599 broad.mit.edu 37 3 39135499 39135501 + In_Frame_Del DEL AAG AAG - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr3:39135499_39135501delAAG uc003cit.2 + 18 1890_1892 c.1880_1882delAAG c.(1879-1884)AAAGAA>AAA p.E629del WDR48_uc011ayt.1_In_Frame_Del_p.E620del|WDR48_uc011ayu.1_In_Frame_Del_p.E547del|WDR48_uc011ayv.1_In_Frame_Del_p.E354del|WDR48_uc003ciu.2_RNA NM_020839 NP_065890 Q8TAF3 WDR48_HUMAN WD repeat domain 48 629 interspecies interaction between organisms|protein deubiquitination lysosome|nucleus protein binding ovary(1)|breast(1) 2 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) GAACAGGAAAAAGAAGAAGATAT 0.389 GORASP1 64689 broad.mit.edu 37 3 39145036 39145038 + In_Frame_Del DEL CTC CTC - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr3:39145036_39145038delCTC uc003ciw.1 - 2 168_170 c.70_72delGAG c.(70-72)GAGdel p.E24del GORASP1_uc003civ.1_RNA|GORASP1_uc003cix.1_RNA|GORASP1_uc003ciy.1_RNA|GORASP1_uc011ayw.1_Intron|GORASP1_uc003ciz.1_Intron NM_031899 NP_114105 Q9BQQ3 GORS1_HUMAN Golgi reassembly stacking protein 1 24 PDZ. mitotic prophase|protein transport cytosol|Golgi apparatus|membrane ovary(2)|central_nervous_system(1) 3 KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653) CTGGGGAGTTCTCCTGCACCTAT 0.591 GLT8D1 55830 broad.mit.edu 37 3 52730572 52730572 + Frame_Shift_Del DEL C C - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr3:52730572delC uc003dfi.3 - 5 572 c.433delG c.(433-435)GAAfs p.E145fs GLT8D1_uc003dfj.2_Frame_Shift_Del_p.E145fs|GLT8D1_uc003dfk.2_Frame_Shift_Del_p.E145fs|GLT8D1_uc003dfl.2_Frame_Shift_Del_p.E145fs|GLT8D1_uc003dfm.2_Frame_Shift_Del_p.E145fs|GLT8D1_uc003dfn.2_Frame_Shift_Del_p.E145fs|GLT8D1_uc003dfo.1_Frame_Shift_Del_p.E145fs NM_152932 NP_690909 Q68CQ7 GL8D1_HUMAN glycosyltransferase 8 domain containing 1 145 Lumenal (Potential). integral to membrane|mitochondrion transferase activity, transferring glycosyl groups 0 BRCA - Breast invasive adenocarcinoma(193;6.78e-05)|Kidney(197;0.000618)|KIRC - Kidney renal clear cell carcinoma(197;0.000779)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) TTCATGGATTCCCCCTGGTCA 0.418 ZBTB20 26137 broad.mit.edu 37 3 114058003 114058003 + Frame_Shift_Del DEL G G - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr3:114058003delG uc003ebi.2 - 5 2255 c.2075delC c.(2074-2076)CCTfs p.P692fs ZBTB20_uc003ebj.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc010hqp.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebk.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebl.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebm.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebn.2_Frame_Shift_Del_p.P619fs NM_015642 NP_056457 Q9HC78 ZBT20_HUMAN zinc finger and BTB domain containing 20 isoform 692 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|skin(1) 5 LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191) TGTGCCTGCAGGGGGGGTCCC 0.632 HIST1H1B 3009 broad.mit.edu 37 6 27835239 27835241 + In_Frame_Del DEL CTT CTT - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr6:27835239_27835241delCTT uc003njx.2 - 1 119_121 c.67_69delAAG c.(67-69)AAGdel p.K23del NM_005322 NP_005313 P16401 H15_HUMAN histone cluster 1, H1b 23 nucleosome assembly nucleosome|nucleus DNA binding large_intestine(2)|lung(1) 3 TCTTAGTTGCCTTCTTCTTAGCC 0.606 STK38 11329 broad.mit.edu 37 6 36465583 36465583 + Frame_Shift_Del DEL A A - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr6:36465583delA uc003omg.2 - 11 1734 c.1146delT c.(1144-1146)TTTfs p.F382fs STK38_uc003omh.2_Frame_Shift_Del_p.F382fs|STK38_uc003omi.2_Frame_Shift_Del_p.F382fs NM_007271 NP_009202 Q15208 STK38_HUMAN serine/threonine kinase 38 382 Protein kinase. intracellular protein kinase cascade|negative regulation of MAP kinase activity cytoplasm|MLL5-L complex ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1) 6 CAACGCCTTCAAAAAAAGAGT 0.368 SOBP 55084 broad.mit.edu 37 6 107955431 107955431 + Frame_Shift_Del DEL C C - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr6:107955431delC uc003prx.2 + 6 1887 c.1383delC c.(1381-1383)CACfs p.H461fs NM_018013 NP_060483 A7XYQ1 SOBP_HUMAN sine oculis binding protein homolog 461 Pro-rich. metal ion binding ovary(1) 1 all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156) BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154) CCCACATCCACCCCCCGAGCA 0.746 EPPK1 83481 broad.mit.edu 37 8 144941378 144941378 + Frame_Shift_Del DEL C C - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr8:144941378delC uc003zaa.1 - 1 6057 c.6044delG c.(6043-6045)GGTfs p.G2015fs NM_031308 NP_112598 P58107 EPIPL_HUMAN epiplakin 1 2015 Plectin 34. cytoplasm|cytoskeleton protein binding|structural molecule activity pancreas(1)|skin(1) 2 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GTCGATGACACCCCCCGTGGC 0.622 OPLAH 26873 broad.mit.edu 37 8 145113719 145113720 + Frame_Shift_Del DEL GA GA - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr8:145113719_145113720delGA uc003zar.3 - 5 625_626 c.543_544delTC c.(541-546)TCTCGAfs p.S181fs OPLAH_uc003zat.1_5'Flank NM_017570 NP_060040 O14841 OPLA_HUMAN 5-oxoprolinase (ATP-hydrolysing) 181_182 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) CGGATGCCTCGAGATAGCAGCC 0.678 CNKSR2 22866 broad.mit.edu 37 X 21609256 21609256 + Frame_Shift_Del DEL A A - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chrX:21609256delA uc004czx.1 + 15 1810 c.1774delA c.(1774-1776)AAAfs p.K592fs CNKSR2_uc004czw.2_Frame_Shift_Del_p.K592fs|CNKSR2_uc011mjn.1_Frame_Shift_Del_p.K543fs|CNKSR2_uc011mjo.1_Frame_Shift_Del_p.K562fs|CNKSR2_uc004czy.2_Frame_Shift_Del_p.K184fs NM_014927 NP_055742 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 592 PH. regulation of signal transduction cytoplasm|membrane protein binding large_intestine(1)|lung(1) 2 ACAGAAATGGAAAAAATATTG 0.378 ERCC6L 54821 broad.mit.edu 37 X 71426804 71426808 + Frame_Shift_Del DEL TTAAT TTAAT - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chrX:71426804_71426808delTTAAT uc004eaq.1 - 2 1906_1910 c.1809_1813delATTAA c.(1807-1815)TCATTAATAfs p.S603fs PIN4_uc004eao.1_Intron|ERCC6L_uc004eap.1_Frame_Shift_Del_p.S480fs NM_017669 NP_060139 Q2NKX8 ERC6L_HUMAN excision repair protein ERCC6-like 603_605 Helicase C-terminal. cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol ATP binding|DNA binding|helicase activity|protein binding ovary(3) 3 Renal(35;0.156) GTTTGTCTTATTAATGAGTCCTTGA 0.346 SMAP2 64744 broad.mit.edu 37 1 40878734 40878735 + Frame_Shift_Ins INS - - A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr1:40878733_40878734G>GA uc001cfj.3 + 4 863_864 c.448_449G>GA c.(448-450)gaafs p.E150fs SMAP2_uc010ojh.2_Frame_Shift_Ins_p.E150fs|SMAP2_uc001cfk.3_Frame_Shift_Ins_p.E120fs|SMAP2_uc021oma.1_Frame_Shift_Ins_p.E145fs|SMAP2_uc010oji.2_Frame_Shift_Ins_p.E70fs|SMAP2_uc010ojj.2_5'Flank NM_022733 NP_001185909 Q8WU79 SMAP2_HUMAN Homo sapiens small ArfGAP2 (SMAP2), transcript variant 1, mRNA. 150 regulation of ARF GTPase activity cytoplasm|nucleus ARF GTPase activator activity|zinc ion binding central_nervous_system(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1) 24 Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;1.04e-17) ACCAGTTCCAGAAAAAAAATTG 0.381 CLDN19 149461 broad.mit.edu 37 1 43200768 43200768 + Frame_Shift_Del DEL G G - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr1:43200767_43200767AG>A uc001cht.1 - 4 856 c.665_665CT>T c.(664-666)ctgfs p.L222fs CLDN19_uc001chu.2_3'UTR|CLDN19_uc010ojv.1_3'UTR NM_148960 NP_683763 Q8N6F1 CLD19_HUMAN Homo sapiens claudin 19 (CLDN19), transcript variant 1, mRNA. 222 calcium-independent cell-cell adhesion|response to stimulus|visual perception basolateral plasma membrane|integral to membrane|tight junction identical protein binding breast(2)|large_intestine(1)|lung(2)|skin(1) 6 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) TTACACACCCAGGGGGCCCTT 0.547 TESK2 10420 broad.mit.edu 37 1 45812430 45812432 + In_Frame_Del DEL CAT CAT - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr1:45812429_45812431GCAT>G uc001cns.1 - 8 1216_1218 c.813_815ATGC>C c.(811-816)gatgct>gaCt p.A272del TESK2_uc009vxr.1_Intron|TESK2_uc010olo.1_In_Frame_Del_p.A189del|TESK2_uc009vxs.1_In_Frame_Del_p.A64del NM_007170 NP_009101 Q96S53 TESK2_HUMAN Homo sapiens testis-specific kinase 2 (TESK2), mRNA. 272 Protein kinase. actin cytoskeleton organization|focal adhesion assembly|spermatogenesis nucleus ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 32 Acute lymphoblastic leukemia(166;0.155) GTGCTGGAAAGCATCATAGTCCA 0.498 CYP4X1 260293 broad.mit.edu 37 1 47489498 47489500 + In_Frame_Del DEL CTC CTC - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr1:47489497_47489499TCTC>T uc001cqt.3 + 0 258_260 c.8_10TCTC>T c.(7-12)ttctcc>tTcc p.S4del CYP4X1_uc001cqr.3_Intron|CYP4X1_uc001cqs.3_Intron NM_178033 NP_828847 Q8N118 CP4X1_HUMAN Homo sapiens cytochrome P450, family 4, subfamily X, polypeptide 1 (CYP4X1), mRNA. 4 endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 17 GCCATGGAATTCTCCTGGCTGGA 0.695 ZCCHC11 23318 broad.mit.edu 37 1 52924124 52924124 + Splice_Site DEL A A - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr1:52924123_52924123TA>T uc001cty.2 - 20 3575 c.3322_splice c.e20-1 p.R1108_splice ZCCHC11_uc001ctx.2_Splice_Site_p.R1108_splice|ZCCHC11_uc009vze.1_Splice_Site_p.R1108_splice|ZCCHC11_uc009vzf.1_Intron NM_001009881 NP_001009881 Q5TAX3 TUT4_HUMAN Homo sapiens zinc finger, CCHC domain containing 11 (ZCCHC11), transcript variant 1, mRNA. 1108 RNA 3'-end processing|miRNA catabolic process|pre-miRNA processing|stem cell maintenance cytoplasm|nucleolus RNA uridylyltransferase activity|nucleic acid binding|protein binding|zinc ion binding NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 GTCACATCGCTAAAAAACAAC 0.388 OVGP1 5016 broad.mit.edu 37 1 111959068 111959069 + Frame_Shift_Ins INS - - T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr1:111959067_111959068C>CT uc001eba.3 - 9 1089_1090 c.1033_1034G>AG c.(1033-1035)aggfs p.R345fs OVGP1_uc001eaz.3_Frame_Shift_Ins_p.R307fs|OVGP1_uc010owb.2_5'UTR NM_002557 NP_002548 Q12889 OVGP1_HUMAN Homo sapiens oviductal glycoprotein 1, 120kDa (OVGP1), mRNA. 345 chitin catabolic process|female pregnancy|single fertilization transport vesicle cation binding|chitinase activity NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1) 39 all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302) Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14) ATGCTCTCGCCTTATAAACCAT 0.500 SPAG17 200162 broad.mit.edu 37 1 118514590 118514590 + Frame_Shift_Del DEL A A - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr1:118514589_118514589CA>C uc001ehk.2 - 44 6291 c.6223_6223TG>G c.(6223-6225)gggfs p.G2075fs SPAG17_uc021osr.1_Frame_Shift_Del_p.G585fs NM_206996 NP_996879 Q6Q759 SPG17_HUMAN Homo sapiens sperm associated antigen 17 (SPAG17), mRNA. 2075 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) AGATGGAACCCAAAAAGGGAT 0.413 SEMA6C 10500 broad.mit.edu 37 1 151110223 151110225 + In_Frame_Del DEL GAA GAA - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr1:151110222_151110224GGAA>G uc001ewv.3 - 9 1055_1057 c.719_721TTCC>C c.(718-723)ttccgc>tCgc p.240_241FR>S SEMA6C_uc001ewu.3_In_Frame_Del_p.240_241FR>S|SEMA6C_uc001eww.3_In_Frame_Del_p.200_201FR>S|SEMA6C_uc009wml.2_Non-coding_Transcript NM_001178061 NP_001171532 Q9H3T2 SEM6C_HUMAN Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C (SEMA6C), transcript variant 1, mRNA. 240 Sema. integral to membrane receptor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 28 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) GAGACCTCGCGGAAGAAGAAGTA 0.557 TDRD10 126668 broad.mit.edu 37 1 154493908 154493908 + Frame_Shift_Del DEL C C - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr1:154493907_154493907GC>G uc009wow.3 + 5 1159 c.321_321GC>G c.(319-321)aggfs p.R107fs TDRD10_uc001ffd.3_Frame_Shift_Del_p.R107fs|TDRD10_uc001ffe.3_Frame_Shift_Del_p.R28fs NM_001098475 NP_001091945 Q5VZ19 TDR10_HUMAN Homo sapiens tudor domain containing 10 (TDRD10), transcript variant 1, mRNA. 107 RRM. RNA binding|nucleotide binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) CAAGCAAAAGGCCCCCCAAGA 0.517 RRM2 6241 broad.mit.edu 37 2 10267250 10267251 + Frame_Shift_Del DEL TT TT - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr2:10267249_10267250ATT>A uc021vdr.1 + 6 931_932 c.880_881ATT>A c.(880-882)attfs p.I294fs NM_001034 NP_001159403 P31350 RIR2_HUMAN Homo sapiens ribonucleotide reductase M2 (RRM2), transcript variant 2, mRNA. 234 DNA replication|deoxyribonucleoside diphosphate metabolic process|deoxyribonucleotide biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|regulation of transcription involved in G1/S phase of mitotic cell cycle cytosol ribonucleoside-diphosphate reductase activity|transition metal ion binding NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|skin(1) 19 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221) AGTGGAAGGCATTTTCTTTTCC 0.426 KCNS3 3790 broad.mit.edu 37 2 18112530 18112530 + Frame_Shift_Del DEL G G - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr2:18112529_18112529CG>C uc021veh.1 + 0 254 c.254_254CG>C c.(253-255)acgfs p.T85fs KCNS3_uc002rcv.3_Frame_Shift_Del_p.T85fs|KCNS3_uc002rcw.3_Frame_Shift_Del_p.T85fs NM_002252 NP_002243 Q9BQ31 KCNS3_HUMAN Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3 (KCNS3), mRNA. 85 energy reserve metabolic process|regulation of insulin secretion Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium channel regulator activity endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) TTTTATTACACGGGGAAGCTG 0.468 MAP4K3 8491 broad.mit.edu 37 2 39552897 39552898 + Frame_Shift_Ins INS - - T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr2:39552896_39552897C>CT uc002rro.3 - 10 872_873 c.781_782G>AG c.(781-783)agafs p.R261fs MAP4K3_uc002rrp.3_Frame_Shift_Ins_p.R261fs|MAP4K3_uc010yns.2_5'UTR NM_003618 NP_003609 Q8IVH8 M4K3_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase kinase 3 (MAP4K3), mRNA. 261 Protein kinase. JNK cascade ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_hematologic(82;0.211) AGCAGTAGGTCTTTTTTTCGGA 0.248 MTIF2 4528 broad.mit.edu 37 2 55464461 55464461 + Frame_Shift_Del DEL T T - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr2:55464460_55464460AT>A uc002ryn.3 - 15 2712 c.1975_1975AT>T c.(1975-1977)tttfs p.F659fs MTIF2_uc010yox.2_Frame_Shift_Del_p.F328fs|MTIF2_uc002ryo.3_Frame_Shift_Del_p.F659fs NM_001005369 NP_002444 P46199 IF2M_HUMAN Homo sapiens mitochondrial translational initiation factor 2 (MTIF2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 659 regulation of translational initiation mitochondrion GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 24 GTTAGTTTAAATTTTTTTTGT 0.383 LRP1B 53353 broad.mit.edu 37 2 141032034 141032034 + Frame_Shift_Del DEL C C - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr2:141032033_141032033GC>G uc002tvj.1 - 84 14074 c.13102_13102GC>C c.(13102-13104)cacfs p.H4368fs NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 4368 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding p.G4367R(1) NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 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) ATAATGCAGTGCCCCCCATGG 0.418 TSP Lung(27;0.18) XIRP2 129446 broad.mit.edu 37 2 168101960 168101961 + Frame_Shift_Ins INS - - T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr2:168101959_168101960C>CT uc002udx.3 + 8 4146_4147 c.4057_4058C>CT c.(4057-4059)cttfs p.L1353fs XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Frame_Shift_Ins_p.L1178fs|XIRP2_uc010fpq.3_Frame_Shift_Ins_p.L1131fs|XIRP2_uc010fpr.3_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. 1178 actin cytoskeleton organization cell junction actin binding p.W1352*(1) NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 AACAAGGTGGCTTTTTGAAACA 0.381 COL5A2 1290 broad.mit.edu 37 2 189899775 189899775 + Frame_Shift_Del DEL T T - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr2:189899774_189899774GT>G uc002uqk.3 - 52 4496 c.4221_4221AC>C c.(4219-4221)aacfs p.N1407fs COL5A2_uc010frx.3_Frame_Shift_Del_p.N983fs NM_000393 NP_000384 P05997 CO5A2_HUMAN Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA. 1407 Fibrillar collagen NC1. axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) ATCCTACACTGTTTTTACAGA 0.393 CNTN6 27255 broad.mit.edu 37 3 1371501 1371502 + Frame_Shift_Ins INS - - A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr3:1371500_1371501T>TA uc003boz.3 + 10 1512_1513 c.1245_1246T>TA c.(1243-1248)gttaaafs p.V415fs CNTN6_uc011asj.2_Frame_Shift_Ins_p.V343fs|CNTN6_uc003bpa.3_Frame_Shift_Ins_p.V415fs NM_014461 NP_055276 Q9UQ52 CNTN6_HUMAN Homo sapiens contactin 6 (CNTN6), mRNA. 415 Ig-like C2-type 5. Notch signaling pathway|axon guidance|cell adhesion|central nervous system development anchored to membrane|plasma membrane p.K418fs*63(1) breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) AAAGTCCAGTTAAAAAAAAGTC 0.391 GALNTL2 117248 broad.mit.edu 37 3 16217062 16217063 + Frame_Shift_Ins INS - - G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr3:16217061_16217062T>TG uc003car.4 + 0 878_879 c.403_404T>TG c.(403-405)tggfs p.W135fs GALNTL2_uc003caq.4_Intron NM_054110 NP_473451 Q8N3T1 GLTL2_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2 (GALNTL2), mRNA. 135 Golgi membrane|integral to membrane|transport vesicle polypeptide N-acetylgalactosaminyltransferase activity|sugar binding p.A137fs*2(1) NS(2)|breast(3)|endometrium(4)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(1)|stomach(1) 33 AAAGAGGGACTGGGGGGCTGAT 0.639 XIRP1 165904 broad.mit.edu 37 3 39227535 39227535 + Frame_Shift_Del DEL C C - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr3:39227534_39227534AC>A uc003cjk.2 - 1 3632 c.3403_3403GT>T c.(3403-3405)tggfs p.W1135fs XIRP1_uc003cji.3_Intron|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Frame_Shift_Del_p.W1135fs NM_194293 NP_919269 Q702N8 XIRP1_HUMAN Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA. 1135 actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) ATTGTCACCCACCCCCCAGGC 0.602 NEK4 6787 broad.mit.edu 37 3 52771700 52771701 + Frame_Shift_Ins INS - - CTAGTCTC TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr3:52771699_52771700A>ACTAGTCTC uc003dfq.4 - 14 2538_2539 c.2335_2336T>GAGACTAGT c.(2335-2337)gttfs p.V779fs NEK4_uc011bej.2_Frame_Shift_Ins_p.V690fs|NEK4_uc003dfr.3_Frame_Shift_Ins_p.V733fs NM_003157 NP_003148 P51957 NEK4_HUMAN Homo sapiens NIMA (never in mitosis gene a)-related kinase 4 (NEK4), transcript variant 1, mRNA. 779 cell division|mitosis nucleus ATP binding|metal ion binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10) 26 BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513) CAAGACTTCAACTAGTCTCCTG 0.406 POLQ 10721 broad.mit.edu 37 3 121207489 121207489 + Frame_Shift_Del DEL A A - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr3:121207488_121207488TA>T uc003eee.4 - 15 4419 c.4290_4290TA>A c.(4288-4290)ttafs p.L1430fs POLQ_uc003eed.3_Frame_Shift_Del_p.L602fs NM_199420 NP_955452 O75417 DPOLQ_HUMAN Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA. 1430 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|single-stranded DNA-dependent ATPase activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 GBM - Glioblastoma multiforme(114;0.0915) CATTCTTTTTTAAAAAAAGAC 0.343 DNA polymerases (catalytic subunits) ILDR1 286676 broad.mit.edu 37 3 121712444 121712444 + Frame_Shift_Del DEL C C - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr3:121712443_121712443GC>G uc003ees.3 - 6 1356 c.1153_1153GC>C c.(1153-1155)ccafs p.P385fs ILDR1_uc003eeq.3_Frame_Shift_Del_p.P353fs|ILDR1_uc003eer.3_Frame_Shift_Del_p.P341fs|ILDR1_uc010hrg.3_Frame_Shift_Del_p.P296fs NM_001199799 NP_001186728 Q86SU0 ILDR1_HUMAN Homo sapiens immunoglobulin-like domain containing receptor 1 (ILDR1), transcript variant 1, mRNA. 385 cytosol|integral to membrane|plasma membrane receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GBM - Glioblastoma multiforme(114;0.156) CAAGACTTTGGCCCCCGGTCC 0.592 MSL2 55167 broad.mit.edu 37 3 135870433 135870433 + Frame_Shift_Del DEL T T - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr3:135870432_135870432CT>C uc003eqx.1 - 1 2024 c.1291_1291AG>G c.(1291-1293)gacfs p.D431fs MSL2_uc011bmb.1_Frame_Shift_Del_p.D357fs|MSL2_uc021xel.1_Frame_Shift_Del_p.D357fs NM_018133 NP_001138889 Q9HCI7 MSL2_HUMAN Homo sapiens male-specific lethal 2 homolog (Drosophila) (MSL2), transcript variant 1, mRNA. 431 Lys-rich. histone H4-K16 acetylation MSL complex zinc ion binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1) 18 ACTGCTTTGTCTTTTTTAAGA 0.363 PCGF3 10336 broad.mit.edu 37 4 728799 728799 + Frame_Shift_Del DEL C C - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr4:728798_728798AC>A uc011bva.1 + 5 663 c.188_188AC>A c.(187-189)cacfs p.H63fs PCGF3_uc003gbc.1_Non-coding_Transcript|PCGF3_uc003gbd.1_Non-coding_Transcript|PCGF3_uc003gbe.3_Frame_Shift_Del_p.H63fs|PCGF3_uc010ibh.3_Frame_Shift_Del_p.H63fs|PCGF3_uc003gbh.3_Frame_Shift_Del_p.H29fs NM_006315 NP_006306 Q3KNV8 PCGF3_HUMAN Homo sapiens polycomb group ring finger 3 (PCGF3), mRNA. 63 regulation of transcription, DNA-dependent|transcription, DNA-dependent PcG protein complex zinc ion binding endometrium(3)|kidney(1)|large_intestine(2)|lung(1) 7 CACCAGAGCCACCCCCTGCAG 0.607 GPR125 166647 broad.mit.edu 37 4 22389604 22389605 + Frame_Shift_Del DEL TC TC - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr4:22389603_22389604GTC>G uc003gqm.1 - 18 3955_3956 c.3690_3691GAC>C c.(3688-3693)agacagfs p.R1230fs GPR125_uc010ieo.1_Frame_Shift_Del_p.R1086fs|GPR125_uc003gql.1_Frame_Shift_Del_p.R357fs NM_145290 NP_660333 Q8IWK6 GP125_HUMAN Homo sapiens G protein-coupled receptor 125 (GPR125), mRNA. 1230 neuropeptide signaling pathway integral to membrane G-protein coupled receptor activity breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 56 Breast(46;0.198) GGGTTGTACTGTCTCTCTCTGT 0.485 ABCG2 9429 broad.mit.edu 37 4 89052271 89052272 + Frame_Shift_Ins INS - - T rs150450599 byFrequency TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr4:89052270_89052271G>GT uc003hrg.3 - 4 966_967 c.473_474C>AC c.(472-474)aacfs p.N158fs ABCG2_uc003hrh.3_Frame_Shift_Ins_p.N158fs|ABCG2_uc003hrf.3_Frame_Shift_Ins_p.N28fs NM_004827 NP_004818 Q9UNQ0 ABCG2_HUMAN Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 2 (ABCG2), mRNA. 158 ABC transporter. cellular iron ion homeostasis|urate metabolic process integral to membrane|plasma membrane ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 42 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;7.02e-05) Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030) TAATCCGTTCGTTTTTTTCATG 0.426 USP38 84640 broad.mit.edu 37 4 144135593 144135594 + Frame_Shift_Ins INS - - A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr4:144135592_144135593T>TA uc003ijb.3 + 8 2997_2998 c.2463_2464T>TA c.(2461-2466)gctaaafs p.A821fs USP38_uc003ija.4_Frame_Shift_Ins_p.A821fs|USP38_uc003ijc.3_Non-coding_Transcript NM_032557 NP_115946 Q8NB14 UBP38_HUMAN Homo sapiens ubiquitin specific peptidase 38 (USP38), mRNA. 821 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3) 33 all_hematologic(180;0.158) AGAACCTTGCTAAAAAATTAAA 0.391 TKTL2 84076 broad.mit.edu 37 4 164394544 164394544 + Frame_Shift_Del DEL G G - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr4:164394543_164394543CG>C uc003iqp.4 - 0 505 c.344_344CG>G c.(343-345)cgafs p.R115fs NM_032136 NP_115512 Q9H0I9 TKTL2_HUMAN Homo sapiens transketolase-like 2 (TKTL2), mRNA. 115 cytoplasm metal ion binding|transketolase activity p.P114H(2) breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 70 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) AAACGGCAATCGGGGGGTAGG 0.527 ADAMTS12 81792 broad.mit.edu 37 5 33881401 33881402 + Frame_Shift_Ins INS - - A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr5:33881400_33881401T>TA uc003jia.1 - 1 475_476 c.312_313A>TA c.(310-315)tttaacfs p.F104fs ADAMTS12_uc010iuq.1_Frame_Shift_Ins_p.F104fs|ADAMTS12_uc003jib.1_Frame_Shift_Ins_p.F104fs NM_030955 NP_112217 P58397 ATS12_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA. 104 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 ACCGTCAAGTTAAAAAACAGGT 0.470 HNSCC(64;0.19) APC 324 broad.mit.edu 37 5 112164566 112164566 + Frame_Shift_Del DEL T T - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr5:112164565_112164565GT>G uc003kpz.4 + 14 1832 c.1639_1639GT>G c.(1639-1641)gttfs p.V547fs APC_uc011cvt.2_Frame_Shift_Del_p.V529fs|APC_uc003kpy.4_Frame_Shift_Del_p.V547fs|APC_uc010jbz.3_Frame_Shift_Del_p.V264fs|APC_uc010jca.3_Intron NM_001127510 NP_001120982 P25054 APC_HUMAN Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA. 547 Leu-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.?(1) NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) TATTGCGAGTGTTTTGAGGAA 0.308 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) HIST1H4C 8364 broad.mit.edu 37 6 26104418 26104419 + Frame_Shift_Del DEL TG TG - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr6:26104417_26104418CTG>C uc003ngi.3 + 0 242_243 c.242_243CTG>C c.(241-243)actfs p.T81fs NM_003542 NP_778224 P62805 H4_HUMAN Homo sapiens histone cluster 1, H4c (HIST1H4C), mRNA. 81 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding p.T81I(2) central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1) 7 AAGCGCAAAACTGTCACAGCCA 0.505 GABBR1 2550 broad.mit.edu 37 6 29599254 29599254 + Frame_Shift_Del DEL C C - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr6:29599253_29599253TC>T uc003nmt.4 - 2 545 c.209_209GA>A c.(208-210)gagfs p.E70fs GABBR1_uc003nmu.4_Frame_Shift_Del_p.E70fs|GABBR1_uc011dlr.2_5'UTR|GABBR1_uc011dls.1_Frame_Shift_Del_p.E70fs NM_001470 NP_001461 Q9UBS5 GABR1_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 1 (GABBR1), transcript variant 1, mRNA. 70 Sushi 1. gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Baclofen(DB00181)|Progabide(DB00837) CACCTCGCGCTCCCCCCGGCA 0.632 MRPS18B 28973 broad.mit.edu 37 6 30587710 30587712 + In_Frame_Del DEL GTT GTT - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr6:30587709_30587711AGTT>A uc003nqo.2 + 3 454_456 c.297_299AGTT>A c.(295-300)aaagtt>aaAt p.V101del PPP1R10_uc003nqn.1_5'Flank|PPP1R10_uc010jsc.1_5'Flank|MRPS18B_uc011dml.1_In_Frame_Del_p.V101del NM_014046 NP_054765 Q9Y676 RT18B_HUMAN Homo sapiens mitochondrial ribosomal protein S18B (MRPS18B), nuclear gene encoding mitochondrial protein, mRNA. 101 translation mitochondrial small ribosomal subunit protein binding|structural constituent of ribosome endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(2) 13 GTCGGAATAAAGTTGTTGGGAAT 0.419 MEPCE 56257 broad.mit.edu 37 7 100028068 100028069 + Frame_Shift_Ins INS - - G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr7:100028067_100028068T>TG uc003uuw.3 + 0 814_815 c.426_427T>TG c.(424-429)cctgggfs p.P142fs ZCWPW1_uc003uut.3_5'Flank|ZCWPW1_uc011kjr.2_5'Flank|ZCWPW1_uc003uuu.1_5'Flank|ZCWPW1_uc011kjt.1_5'Flank|ZCWPW1_uc011kju.1_5'Flank|MEPCE_uc022ain.1_Intron|MEPCE_uc022aio.1_Intron|MEPCE_uc003uuv.3_Intron NM_019606 NP_062552 Q7L2J0 MEPCE_HUMAN Homo sapiens methylphosphate capping enzyme (MEPCE), transcript variant 1, mRNA. 142 Gly-rich. methyltransferase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) ACCGGCCACCTGGGGGGGGCGG 0.693 CBLL1 79872 broad.mit.edu 37 7 107395909 107395909 + Frame_Shift_Del DEL A A - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr7:107395908_107395908GA>G uc003veq.3 + 4 742 c.412_412GA>G c.(412-414)gaafs p.E138fs CBLL1_uc011kme.2_Frame_Shift_Del_p.E17fs|CBLL1_uc011kmf.2_Frame_Shift_Del_p.E137fs NM_024814 NP_079090 Q75N03 HAKAI_HUMAN Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1 (CBLL1), transcript variant 1, mRNA. 138 cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3) 21 TATTTTACATGAAAAAAAGGG 0.264 LAMB4 22798 broad.mit.edu 37 7 107745044 107745045 + Frame_Shift_Del DEL AC AC - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr7:107745043_107745044GAC>G uc010ljo.1 - 8 975_976 c.891_892GTC>C c.(889-894)tgtcagfs p.C297fs LAMB4_uc003vey.2_Frame_Shift_Del_p.C297fs NM_007356 NP_031382 A4D0S4 LAMB4_HUMAN Homo sapiens laminin, beta 4 (LAMB4), mRNA. 297 Laminin EGF-like 1. cell adhesion basement membrane NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 GTATTGTGCTGACACACACACT 0.495 FZD3 7976 broad.mit.edu 37 8 28385233 28385234 + Frame_Shift_Ins INS - - G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr8:28385232_28385233T>TG uc003xgx.3 + 4 1484_1485 c.955_956T>TG c.(955-957)tggfs p.W319fs FZD3_uc010lvb.3_Frame_Shift_Ins_p.W319fs NM_017412 NP_665873 Q9NPG1 FZD3_HUMAN Homo sapiens frizzled family receptor 3 (FZD3), transcript variant 1, mRNA. 319 G-protein signaling, coupled to cGMP nucleotide second messenger|canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|gonad development|inner ear morphogenesis|neural tube closure|vasculature development apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1) 41 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23) TGTGCCAAAGTGGGGTAGTGAA 0.421 WRN 7486 broad.mit.edu 37 8 30915971 30915972 + Frame_Shift_Ins INS - - A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr8:30915970_30915971G>GA uc003xio.4 + 1 795_796 c.7_8G>GA c.(7-9)gaafs p.E3fs NM_000553 NP_000544 Q14191 WRN_HUMAN Homo sapiens Werner syndrome, RecQ helicase-like (WRN), mRNA. 3 Interaction with WRNIP1 (By similarity). DNA recombination|DNA synthesis involved in DNA repair|base-excision repair|cellular response to starvation|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to UV-C|response to oxidative stress|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|G-quadruplex DNA binding|Y-form DNA binding|bubble DNA binding|four-way junction helicase activity|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3) 60 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) AAAGATGAGTGAAAAAAAATTG 0.356 """Mis, N, F, S""" """osteosarcoma, meningioma, others""" Genes defective in diseases associated with sensitivity to DNA damaging agents Werner syndrome XKR4 114786 broad.mit.edu 37 8 56270311 56270312 + Frame_Shift_Ins INS - - A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr8:56270310_56270311G>GA uc003xsf.3 + 1 911_912 c.879_880G>GA c.(877-882)tggaaafs p.W293fs NM_052898 NP_443130 Q5GH76 XKR4_HUMAN Homo sapiens XK, Kell blood group complex subunit-related family, member 4 (XKR4), mRNA. 293 integral to membrane NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 34 Epithelial(17;0.000117)|all cancers(17;0.000836) GGTTTTACTGGAAAATGGTATA 0.426 FAM135B 51059 broad.mit.edu 37 8 139151232 139151232 + Frame_Shift_Del DEL T T - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr8:139151231_139151231GT>G uc003yuy.3 - 17 4070 c.3899_3899AC>C c.(3898-3900)acafs p.T1300fs FAM135B_uc003yux.3_Frame_Shift_Del_p.T1201fs|FAM135B_uc003yuz.3_Non-coding_Transcript NM_015912 NP_056996 Q49AJ0 F135B_HUMAN Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA. 1300 p.T1300R(3) NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) CCACTGACCTGTTTTTTGGCT 0.443 HNSCC(54;0.14) PLEC 5339 broad.mit.edu 37 8 144995352 144995352 + Frame_Shift_Del DEL C C - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr8:144995351_144995351AC>A uc003zaf.1 - 31 9219 c.9049_9049GT>T c.(9049-9051)tgcfs p.C3017fs PLEC_uc003zab.1_Frame_Shift_Del_p.C2880fs|PLEC_uc003zac.1_Frame_Shift_Del_p.C2884fs|PLEC_uc003zad.2_Frame_Shift_Del_p.C2880fs|PLEC_uc003zae.1_Frame_Shift_Del_p.C2848fs|PLEC_uc003zag.1_Frame_Shift_Del_p.C2858fs|PLEC_uc003zah.2_Frame_Shift_Del_p.C2866fs|PLEC_uc003zaj.2_Frame_Shift_Del_p.C2907fs NM_201380 NP_958782 Q15149 PLEC_HUMAN Homo sapiens plectin (PLEC), transcript variant 6, mRNA. 3017 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 GGCAGAAGGCACAGGCCCGTC 0.642 WDR5 11091 broad.mit.edu 37 9 137019598 137019598 + Frame_Shift_Del DEL C C - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr9:137019597_137019597AC>A uc004cey.3 + 9 812 c.641_641AC>A c.(640-642)aacfs p.N214fs WDR5_uc004cez.3_Frame_Shift_Del_p.N214fs NM_017588 NP_438172 P61964 WDR5_HUMAN Homo sapiens WD repeat domain 5 (WDR5), transcript variant 1, mRNA. 214 histone H3 acetylation|histone H3-K4 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ada2/Gcn5/Ada3 transcription activator complex|MLL1 complex|Set1C/COMPASS complex protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(5) 9 Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123) Epithelial(140;6.61e-13)|all cancers(34;5.66e-12)|OV - Ovarian serous cystadenocarcinoma(145;3.93e-08)|GBM - Glioblastoma multiforme(294;0.00326)|READ - Rectum adenocarcinoma(205;0.154) GATGACGACAACCCCCCCGTG 0.627 NCOA4 8031 broad.mit.edu 37 10 51581289 51581290 + Frame_Shift_Ins INS - - A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr10:51581288_51581289T>TA uc001jis.4 + 4 593_594 c.390_391T>TA c.(388-393)cttaagfs p.L130fs PARG_uc001jih.3_Intron|TIMM23_uc010qha.2_Intron|TIMM23_uc001jin.3_Intron|TIMM23_uc010qhb.2_Intron|TIMM23_uc010qhc.2_Intron|NCOA4_uc009xon.3_Frame_Shift_Ins_p.L146fs|NCOA4_uc010qhd.2_Frame_Shift_Ins_p.L146fs|NCOA4_uc010qhe.2_Frame_Shift_Ins_p.L30fs|NCOA4_uc010qhf.2_5'UTR|NCOA4_uc001jit.3_Frame_Shift_Ins_p.L130fs|NCOA4_uc009xoo.3_Frame_Shift_Ins_p.L130fs NM_001145263 NP_005428 Q13772 NCOA4_HUMAN Homo sapiens nuclear receptor coactivator 4 (NCOA4), transcript variant 4, mRNA. 130 androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus androgen receptor binding|transcription coactivator activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1) 5 GTTTGACCCTTAAGCCTGAAGA 0.391 T RET papillary thyroid FAM196A 642938 broad.mit.edu 37 10 128974289 128974289 + Frame_Shift_Del DEL T T - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr10:128974288_128974288CT>C uc001lju.1 - 0 413 c.372_372AG>G c.(370-372)aagfs p.K124fs DOCK1_uc001ljt.3_Intron|DOCK1_uc010qun.2_Intron|FAM196A_uc010quo.1_Frame_Shift_Del_p.K124fs|FAM196A_uc001ljv.1_Frame_Shift_Del_p.K124fs|FAM196A_uc009yap.1_Frame_Shift_Del_p.K124fs NM_001039762 NP_001034851 Q6ZSG2 F196A_HUMAN Homo sapiens family with sequence similarity 196, member A (FAM196A), mRNA. 124 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 TGAGGTTCCCCTTTTTGCGGT 0.547 OR2D3 120775 broad.mit.edu 37 11 6942991 6942992 + Frame_Shift_Ins INS - - T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr11:6942990_6942991C>CT uc010rav.2 + 0 758_759 c.758_759C>CT c.(757-759)gctfs p.A253fs NM_001004684 NP_001004684 Q8NGH3 OR2D3_HUMAN Homo sapiens olfactory receptor, family 2, subfamily D, member 3 (OR2D3), mRNA. 253 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1) 27 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) AGACTCAAGGCTTTTTCCACCT 0.465 PAX6 5080 broad.mit.edu 37 11 31812317 31812317 + Frame_Shift_Del DEL G G - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr11:31812316_31812316TG>T uc009yjr.3 - 11 1594 c.1125_1125CA>A c.(1123-1125)ccafs p.P375fs PAX6_uc001mtd.4_Frame_Shift_Del_p.P375fs|PAX6_uc001mte.4_Frame_Shift_Del_p.P375fs|PAX6_uc001mtg.4_Frame_Shift_Del_p.P389fs|PAX6_uc001mtf.4_Frame_Shift_Del_p.P375fs|PAX6_uc001mth.4_Frame_Shift_Del_p.P375fs|PAX6_uc021qfl.1_Frame_Shift_Del_p.P389fs|PAX6_uc021qfm.1_Frame_Shift_Del_p.P389fs NM_001127612 NP_001121084 P26367 PAX6_HUMAN Homo sapiens paired box 6 (PAX6), transcript variant 3, mRNA. 375 Pro/Ser/Thr-rich. P -> Q (in AN; reduced DNA binding ability). blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception cytoplasm|nuclear chromatin R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2) 35 Lung SC(675;0.225) TCTGCATATGTGGGGGGGTGT 0.592 Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation OR5B21 219968 broad.mit.edu 37 11 58275490 58275490 + Frame_Shift_Del DEL A A - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr11:58275489_58275489TA>T uc010rki.2 - 0 90 c.90_90TA>A c.(88-90)ttafs p.L30fs NM_001005218 NP_001005218 A6NL26 OR5BL_HUMAN Homo sapiens olfactory receptor, family 5, subfamily B, member 21 (OR5B21), mRNA. 30 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Esophageal squamous(5;0.0027) Breast(21;0.0778) GGTAGATGAATAAAAATGCCA 0.468 PITPNM1 9600 broad.mit.edu 37 11 67267649 67267649 + Frame_Shift_Del DEL G G - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr11:67267648_67267648TG>T uc001olx.3 - 4 1074 c.885_885CA>A c.(883-885)ccafs p.P295fs PITPNM1_uc001olw.3_5'Flank|PITPNM1_uc001oly.3_Frame_Shift_Del_p.P295fs|PITPNM1_uc001olz.3_Frame_Shift_Del_p.P295fs NM_004910 NP_004901 O00562 PITM1_HUMAN Homo sapiens phosphatidylinositol transfer protein, membrane-associated 1 (PITPNM1), transcript variant 1, mRNA. 295 brain development|lipid metabolic process|phototransduction|protein transport Golgi cisterna membrane|cleavage furrow|endoplasmic reticulum membrane|lipid particle|membrane fraction|midbody metal ion binding|phosphatidylinositol transporter activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3) 18 CATCTGGGCCTGGGGGGGCCT 0.692 KRTAP5-8 57830 broad.mit.edu 37 11 71249165 71249165 + Frame_Shift_Del DEL G G - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr11:71249164_71249164TG>T uc001oqr.1 + 0 94 c.63_63TG>T c.(61-63)tgtfs p.C21fs NM_021046 NP_066384 O75690 KRA58_HUMAN Homo sapiens keratin associated protein 5-8 (KRTAP5-8), mRNA. 21 extracellular region|keratin filament structural constituent of epidermis cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1) 6 GCTCTGGCTGTGGGGGATGTG 0.657 HEPHL1 341208 broad.mit.edu 37 11 93754626 93754627 + Frame_Shift_Ins INS - - T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr11:93754625_93754626A>AT uc001pep.2 + 0 248_249 c.91_92A>AT c.(91-93)attfs p.I31fs NM_001098672 NP_001092142 Q6MZM0 HPHL1_HUMAN Homo sapiens hephaestin-like 1 (HEPHL1), mRNA. 31 Plastocyanin-like 1. copper ion transport integral to membrane copper ion binding|oxidoreductase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 61 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) AACGTACTACATTGGGATTGTG 0.475 HYOU1 10525 broad.mit.edu 37 11 118918526 118918527 + Frame_Shift_Ins INS - - C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr11:118918525_118918526G>GC uc001puu.2 - 21 2708_2709 c.2515_2516C>GC c.(2515-2517)gccfs p.A839fs HYOU1_uc001put.2_Frame_Shift_Ins_p.A804fs|HYOU1_uc010ryu.1_Frame_Shift_Ins_p.A797fs|HYOU1_uc010ryv.1_Frame_Shift_Ins_p.A728fs|HYOU1_uc001pux.3_Frame_Shift_Ins_p.A839fs NM_006389 NP_006380 Q9Y4L1 HYOU1_HUMAN Homo sapiens hypoxia up-regulated 1 (HYOU1), transcript variant 1, mRNA. 839 endoplasmic reticulum lumen ATP binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2) 33 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207) BRCA - Breast invasive adenocarcinoma(274;7.78e-05) GATGAGCCGGGCCCCCCTGGAA 0.540 VWA5A 4013 broad.mit.edu 37 11 124005694 124005694 + Frame_Shift_Del DEL G G - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr11:124005693_124005693AG>A uc001pzu.3 + 11 1520 c.1311_1311AG>A c.(1309-1311)tcafs p.S437fs VWA5A_uc001pzt.3_Frame_Shift_Del_p.S437fs NM_001130142 NP_055437 O00534 VMA5A_HUMAN Homo sapiens von Willebrand factor A domain containing 5A (VWA5A), transcript variant 3, mRNA. 437 VWFA. autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 CCCGGGCATCAGGGGGCACCT 0.502 ST8SIA1 6489 broad.mit.edu 37 12 22486986 22486986 + Frame_Shift_Del DEL C C - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr12:22486985_22486985AC>A uc001rfo.4 - 0 664 c.182_182GT>T c.(181-183)gtgfs p.V61fs ST8SIA1_uc009zix.3_5'UTR NM_003034 NP_003025 Q92185 SIA8A_HUMAN Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 (ST8SIA1), mRNA. 61 glycosphingolipid biosynthetic process|protein glycosylation integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 25 CTGTTGCAGCACCCCCTGCAC 0.647 LRP1 4035 broad.mit.edu 37 12 57572242 57572242 + Frame_Shift_Del DEL G G - rs139915490 TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr12:57572241_57572241CG>C uc001snd.3 + 26 4927 c.4461_4461CG>C c.(4459-4461)tacfs p.Y1487fs NM_002332 NP_002323 Q07954 LRP1_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA. 1487 aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) TGACGCTGTACGGGGGGGAGG 0.592 MMAB 326625 broad.mit.edu 37 12 109999660 109999660 + Splice_Site DEL G G - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr12:109999659_109999659TG>T uc001tou.3 - 5 422 c.349_splice c.e5-1 p.I117_splice MMAB_uc001tov.3_Splice_Site|MMAB_uc010sxq.2_Splice_Site_p.I26_splice NM_052845 NP_443077 Q96EY8 MMAB_HUMAN Homo sapiens methylmalonic aciduria (cobalamin deficiency) cblB type (MMAB), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 117 cobalamin biosynthetic process mitochondrion ATP binding|cob(I)yrinic acid a,c-diamide adenosyltransferase activity cervix(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1) 6 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GCACTGGATCTGGGGGGCGAC 0.577 ULK1 8408 broad.mit.edu 37 12 132401027 132401028 + Frame_Shift_Ins INS - - C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr12:132401026_132401027G>GC uc001uje.3 + 19 2230_2231 c.1962_1963G>GC c.(1960-1965)acgcccfs p.T654fs NM_003565 NP_003556 O75385 ULK1_HUMAN Homo sapiens unc-51-like kinase 1 (C. elegans) (ULK1), mRNA. 654 autophagy|protein localization|regulation of autophagy ULK1-ATG13-FIP200 complex|autophagic vacuole|cytosol|pre-autophagosomal structure ATP binding|protein complex binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 29 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07) TGGTGATGACGCCCCCTCGAAA 0.688 PSPC1 55269 broad.mit.edu 37 13 20277345 20277346 + Frame_Shift_Del DEL AA AA - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr13:20277344_20277345CAA>C uc021rgx.1 - 9 1679_1680 c.1542_1543TTG>G c.(1540-1545)tttgaafs p.F514fs NM_001042414 NP_001035879 Q8WXF1 PSPC1_HUMAN Homo sapiens paraspeckle component 1 (PSPC1), transcript variant 1, mRNA. 514 Gly-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nuclear matrix|nucleolus RNA binding|nucleotide binding|protein binding breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483) TTAGGGCCTTCAAAGTTGCCCC 0.441 CLYBL 171425 broad.mit.edu 37 13 100543660 100543661 + Frame_Shift_Ins INS - - A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr13:100543659_100543660G>GA uc001vok.3 + 7 1046_1047 c.1015_1016G>GA c.(1015-1017)gaafs p.E339fs NM_206808 NP_996531 Q8N0X4 CLYBL_HUMAN Homo sapiens citrate lyase beta like (CLYBL), mRNA. 339 cellular aromatic compound metabolic process citrate lyase complex|mitochondrion citrate (pro-3S)-lyase activity|metal ion binding NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2) 25 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CTCCATCAAGGAAAAATGATCT 0.450 LTBP2 4053 broad.mit.edu 37 14 75016599 75016599 + Frame_Shift_Del DEL C C - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr14:75016598_75016598AC>A uc001xqa.3 - 7 2144 c.1757_1757GT>T c.(1756-1758)gtgfs p.V586fs NM_000428 NP_000419 Q14767 LTBP2_HUMAN Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA. 586 TB 1. protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) ACACAAAGTCACCCCCCAGAA 0.627 TJP1 7082 broad.mit.edu 37 15 30065504 30065505 + Frame_Shift_Ins INS - - A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr15:30065503_30065504G>GA uc001zcr.3 - 2 616_617 c.141_142C>TC c.(139-144)tttcagfs p.F47fs TJP1_uc010azl.3_Frame_Shift_Ins_p.F35fs|TJP1_uc001zcq.3_Frame_Shift_Ins_p.F51fs|TJP1_uc001zcs.3_Frame_Shift_Ins_p.F47fs NM_003257 NP_003248 Q07157 ZO1_HUMAN Homo sapiens tight junction protein 1 (zona occludens 1) (TJP1), transcript variant 1, mRNA. 47 PDZ 1. cell-cell junction assembly|cellular component disassembly involved in apoptosis Golgi apparatus|basolateral plasma membrane|cell-cell adherens junction|tight junction breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1) 68 all_lung(180;7.48e-11)|Breast(32;0.000153) all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186) TCCCCACTCTGAAAATGAGGAT 0.406 TRPM7 54822 broad.mit.edu 37 15 50931658 50931659 + Frame_Shift_Ins INS - - C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr15:50931657_50931658T>TC uc001zyt.4 - 5 905_906 c.623_624A>GA c.(622-624)ggafs p.G208fs TRPM7_uc010bew.2_Frame_Shift_Ins_p.G208fs NM_017672 NP_060142 Q96QT4 TRPM7_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 7 (TRPM7), mRNA. 208 cell death integral to membrane ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3) 52 all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045) TTTCAATCACTCCCCATGGAGC 0.327 SCAPER 49855 broad.mit.edu 37 15 77064150 77064150 + Frame_Shift_Del DEL T T - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr15:77064149_77064149AT>A uc002bby.3 - 8 1241 c.1182_1182AT>T c.(1180-1182)aatfs p.N394fs SCAPER_uc002bbx.3_Frame_Shift_Del_p.N148fs|SCAPER_uc002bbz.1_Frame_Shift_Del_p.N259fs|SCAPER_uc002bca.1_Frame_Shift_Del_p.N259fs|SCAPER_uc002bcb.1_Frame_Shift_Del_p.N394fs|SCAPER_uc002bcc.1_Frame_Shift_Del_p.N394fs NM_020843 NP_065894 Q9BY12 SCAPE_HUMAN Homo sapiens S-phase cyclin A-associated protein in the ER (SCAPER), transcript variant 1, mRNA. 393 Glu-rich. endoplasmic reticulum|nucleus zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2) 39 ATTTTTCTTCATTTACTTGTA 0.373 GLYR1 84656 broad.mit.edu 37 16 4862229 4862230 + Frame_Shift_Ins INS - - C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr16:4862228_4862229G>GC uc002cxx.4 - 12 1177_1178 c.1140_1141C>GC c.(1138-1143)gggcgcfs p.G380fs GLYR1_uc002cxy.3_Non-coding_Transcript|GLYR1_uc002cxz.1_Frame_Shift_Ins_p.G294fs|GLYR1_uc002cya.2_Frame_Shift_Ins_p.G374fs|GLYR1_uc010uxv.1_Frame_Shift_Ins_p.G299fs NM_032569 NP_115958 Q49A26 GLYR1_HUMAN Homo sapiens glyoxylate reductase 1 homolog (Arabidopsis) (GLYR1), mRNA. 380 pentose-phosphate shunt nucleus DNA binding|coenzyme binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity p.R381fs*15(2)|p.G379R(1) endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1) 19 TCCAGAAAGCGCCCCCCCCTGG 0.574 ZC3H7A 29066 broad.mit.edu 37 16 11846657 11846657 + Frame_Shift_Del DEL T T - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr16:11846656_11846656GT>G uc002dbk.3 - 20 2793 c.2595_2595AC>C c.(2593-2595)aacfs p.N865fs ZC3H7A_uc002dbh.3_Frame_Shift_Del_p.N5fs|ZC3H7A_uc002dbi.3_Frame_Shift_Del_p.N53fs|ZC3H7A_uc002dbj.3_Non-coding_Transcript|ZC3H7A_uc002dbl.3_Frame_Shift_Del_p.N865fs NM_014153 NP_054872 Q8IWR0 Z3H7A_HUMAN Homo sapiens zinc finger CCCH-type containing 7A (ZC3H7A), mRNA. 865 nucleus nucleic acid binding|zinc ion binding breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2) 25 CACTGTTGCAGTTTTTCCCAC 0.522 NOMO1 23420 broad.mit.edu 37 16 14989451 14989451 + Frame_Shift_Del DEL C C - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr16:14989450_14989450GC>G uc002dcv.3 + 30 3683 c.3617_3617GC>G c.(3616-3618)ggcfs p.G1206fs NM_014287 NP_055102 Q15155 NOMO1_HUMAN Homo sapiens NODAL modulator 1 (NOMO1), mRNA. 1206 integral to membrane carbohydrate binding|carboxypeptidase activity|protein binding endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2) 30 GACAATAGCGGCCCAGAAGAT 0.562 TMC5 79838 broad.mit.edu 37 16 19455474 19455475 + Frame_Shift_Ins INS - - G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr16:19455473_19455474T>TG uc002dgc.4 + 3 1608_1609 c.859_860T>TG c.(859-861)tggfs p.W287fs TMC5_uc010vaq.2_Frame_Shift_Ins_p.W287fs|TMC5_uc002dgb.4_Frame_Shift_Ins_p.W287fs|TMC5_uc010var.2_Frame_Shift_Ins_p.W287fs NM_001105248 NP_001098718 Q6UXY8 TMC5_HUMAN Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA. 287 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 GGGCAGTCTTTGGGGAGAGAAT 0.495 IL21R 50615 broad.mit.edu 37 16 27460530 27460530 + Frame_Shift_Del DEL C C - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr16:27460529_27460529AC>A uc002dor.2 + 9 2156 c.1608_1608AC>A c.(1606-1608)ggafs p.G536fs IL21R_uc002doq.2_Frame_Shift_Del_p.G514fs|IL21R_uc002dos.2_Frame_Shift_Del_p.G514fs|LOC283888_uc002dot.3_Non-coding_Transcript NM_181079 NP_851565 Q9HBE5 IL21R_HUMAN Homo sapiens interleukin 21 receptor (IL21R), transcript variant 3, mRNA. 514 natural killer cell activation integral to membrane interleukin-21 receptor activity breast(2)|large_intestine(3)|lung(1)|ovary(2) 8 GGGACGAAGGACCCCCCCGGA 0.637 T BCL6 NHL NLRC5 84166 broad.mit.edu 37 16 57113198 57113201 + Frame_Shift_Del DEL AGAT AGAT - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr16:57113197_57113200CAGAT>C uc021tiu.1 + 43 5357_5360 c.5230_5233CAGAT>C c.(5230-5235)cagatafs p.Q1744fs NLRC5_uc010ccr.1_Non-coding_Transcript|NLRC5_uc010ccs.1_Non-coding_Transcript|NLRC5_uc002eko.1_Non-coding_Transcript|NLRC5_uc002ekq.1_Frame_Shift_Del_p.Q286fs|NLRC5_uc002ekr.1_Frame_Shift_Del_p.Q631fs NM_032206 NP_115582 Q86WI3 NLRC5_HUMAN Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA. 1744 defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|RNA polymerase II core promoter sequence-specific DNA binding|protein binding NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) GCTGCTCAGACAGATAGAGTAAGT 0.598 RNF167 26001 broad.mit.edu 37 17 4844272 4844273 + Frame_Shift_Ins INS - - G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr17:4844271_4844272C>CG uc002fzs.3 + 1 516_517 c.67_68C>CG c.(67-69)cggfs p.R23fs SLC25A11_uc002fzp.2_5'Flank|SLC25A11_uc002fzo.2_5'Flank|SLC25A11_uc021tod.1_5'Flank|SLC25A11_uc021toe.1_5'Flank|RNF167_uc002fzw.2_Frame_Shift_Ins_p.R23fs|RNF167_uc002fzu.3_Frame_Shift_Ins_p.R23fs|RNF167_uc002fzy.3_5'Flank NM_015528 NP_056343 Q9H6Y7 RN167_HUMAN Homo sapiens ring finger protein 167 (RNF167), mRNA. 23 negative regulation of cell cycle|protein polyubiquitination cytoplasm|endomembrane system|integral to membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|large_intestine(2)|lung(1) 4 GGCCCCGACCCGGGGGCTCATT 0.653 RNF43 54894 broad.mit.edu 37 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr17:56435160_56435160AC>A uc002iwf.3 - 7 3933 c.1977_1977GT>T c.(1975-1977)ggtfs p.G659fs RNF43_uc010wnv.2_Frame_Shift_Del_p.G618fs|RNF43_uc002iwh.4_Frame_Shift_Del_p.G659fs|RNF43_uc002iwg.4_Frame_Shift_Del_p.G659fs|RNF43_uc010dcw.3_Frame_Shift_Del_p.G532fs NM_017763 NP_060233 Q68DV7 RNF43_HUMAN Homo sapiens ring finger protein 43 (RNF43), mRNA. 659 Pro-rich. endoplasmic reticulum membrane|integral to membrane|nuclear envelope ligase activity|protein binding|zinc ion binding p.G659fs*41(1) NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4) 60 Medulloblastoma(34;0.127)|all_neural(34;0.237) GCTCGGAGGGACCCCCCCGCC 0.597 PSMD12 5718 broad.mit.edu 37 17 65340757 65340757 + Frame_Shift_Del DEL T T - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr17:65340756_65340756CT>C uc002jfy.3 - 8 1135 c.1049_1049AG>G c.(1048-1050)aggfs p.R350fs PSMD12_uc002jga.3_Frame_Shift_Del_p.R330fs|PSMD12_uc002jfz.3_Frame_Shift_Del_p.R291fs NM_002816 NP_002807 O00232 PSD12_HUMAN Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 12 (PSMD12), transcript variant 1, mRNA. 350 PCI. DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction proteasome regulatory particle protein binding breast(1)|large_intestine(4)|lung(6)|pancreas(1)|urinary_tract(1) 13 all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13) GTCTTTCCACCTTTTTTCACC 0.353 TMC8 147138 broad.mit.edu 37 17 76134524 76134525 + Frame_Shift_Ins INS - - T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr17:76134523_76134524C>CT uc002jup.2 + 12 2009_2010 c.1627_1628C>CT c.(1627-1629)cttfs p.L543fs TMC8_uc002juq.2_Frame_Shift_Ins_p.L320fs|TMC8_uc002jur.1_5'UTR NM_152468 NP_689681 Q8IU68 TMC8_HUMAN Homo sapiens transmembrane channel-like 8 (TMC8), mRNA. 543 endoplasmic reticulum membrane|integral to membrane breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 12 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192) CCTGGGCCTGCTTCTGGCTGCA 0.644 SMAD7 4092 broad.mit.edu 37 18 46474795 46474796 + Frame_Shift_Ins INS - - G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr18:46474794_46474795A>AG uc002ldg.3 - 1 913_914 c.626_627T>CT c.(625-627)cctfs p.P209fs SMAD7_uc010xde.2_5'UTR|SMAD7_uc021ujr.1_Frame_Shift_Ins_p.P209fs NM_005904 NP_005895 O15105 SMAD7_HUMAN Homo sapiens SMAD family member 7 (SMAD7), transcript variant 1, mRNA. 209 Important for interaction with SMURF2.|Poly-Pro. BMP signaling pathway|adherens junction assembly|artery morphogenesis|cellular protein complex localization|negative regulation of BMP signaling pathway|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of peptidyl-serine phosphorylation|negative regulation of peptidyl-threonine phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of ubiquitin-protein ligase activity|pathway-restricted SMAD protein phosphorylation|positive regulation of anti-apoptosis|positive regulation of cell-cell adhesion|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein stabilization|regulation of activin receptor signaling pathway|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis centrosome|cytosol|nucleolus|plasma membrane|transcription factor complex I-SMAD binding|activin binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1) 10 Colorectal(1;0.0518) TGGAGTAAGGAGGGGGGGGAGA 0.386 TLE2 7089 broad.mit.edu 37 19 3013796 3013797 + Frame_Shift_Ins INS - - G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr19:3013795_3013796T>TG uc010dth.3 - 10 1010_1011 c.747_748A>CA c.(745-750)cccagcfs p.P249fs TLE2_uc010xhb.2_5'UTR|TLE2_uc002lww.3_Frame_Shift_Ins_p.P248fs|TLE2_uc010xhc.2_Frame_Shift_Ins_p.P126fs|TLE2_uc010dti.3_Frame_Shift_Ins_p.P262fs|TLE2_uc010xhd.1_Frame_Shift_Ins_p.P156fs NM_003260 NP_003251 Q04725 TLE2_HUMAN Homo sapiens transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila) (TLE2), transcript variant 1, mRNA. 248 CCN domain. Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent nucleus protein binding|transcription corepressor activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1) 13 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) GTAGCCGGGCTGGGGGGCTCTG 0.609 ACSBG2 81616 broad.mit.edu 37 19 6147615 6147615 + Frame_Shift_Del DEL A A - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr19:6147614_6147614CA>C uc002mef.1 + 2 452 c.225_225CA>C c.(223-225)ggcfs p.G75fs ACSBG2_uc002mee.1_5'UTR|ACSBG2_uc002meg.1_Frame_Shift_Del_p.G75fs|ACSBG2_uc002meh.1_Frame_Shift_Del_p.G75fs|ACSBG2_uc002mei.1_Frame_Shift_Del_p.G25fs|ACSBG2_uc010xiz.1_Frame_Shift_Del_p.G75fs NM_030924 NP_112186 Q5FVE4 ACBG2_HUMAN Homo sapiens acyl-CoA synthetase bubblegum family member 2 (ACSBG2), mRNA. 75 cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis membrane|microsome|mitochondrion ATP binding|acyl-CoA thioesterase activity|long-chain fatty acid-CoA ligase activity breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CCAAGAATGGCAAAAAGTGGG 0.448 KLHL26 55295 broad.mit.edu 37 19 18780032 18780032 + Frame_Shift_Del DEL C C - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr19:18780031_18780031GC>G uc002njz.1 + 2 1851 c.1824_1824GC>G c.(1822-1824)ctgfs p.L608fs NM_018316 NP_060786 Q53HC5 KLH26_HUMAN Homo sapiens kelch-like 26 (Drosophila) (KLHL26), mRNA. 608 breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 17 CCGTCCTGCTGCCCCGGGCCG 0.677 BTBD3 22903 broad.mit.edu 37 20 11899210 11899210 + Frame_Shift_Del DEL C C - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr20:11899209_11899209GC>G uc002wnz.3 + 0 645 c.286_286GC>G c.(286-288)gccfs p.A96fs BTBD3_uc002wny.3_Frame_Shift_Del_p.A35fs|BTBD3_uc002woa.3_Frame_Shift_Del_p.A35fs|BTBD3_uc010zrf.2_5'UTR|BTBD3_uc010zrg.2_5'Flank|BTBD3_uc010zrh.2_5'Flank NM_014962 NP_852108 Q9Y2F9 BTBD3_HUMAN Homo sapiens BTB (POZ) domain containing 3 (BTBD3), transcript variant 1, mRNA. 96 p.P95T(1) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2) 34 CCTTATCCCGGCCCCAAACTG 0.483 CD93 22918 broad.mit.edu 37 20 23065992 23065992 + Frame_Shift_Del DEL C C - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr20:23065991_23065991TC>T uc002wsv.3 - 0 987 c.839_839GA>A c.(838-840)gatfs p.D280fs NM_012072 NP_036204 Q9NPY3 C1QR1_HUMAN Homo sapiens CD93 molecule (CD93), mRNA. 280 EGF-like 1. cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis plasma membrane calcium ion binding|complement component C1q binding|receptor activity|sugar binding p.D280N(1) NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118) GAAGGAGCCATCCCCCCCTTC 0.632 DIDO1 11083 broad.mit.edu 37 20 61511207 61511207 + Frame_Shift_Del DEL G G - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr20:61511206_61511206CG>C uc002ydr.2 - 15 6414 c.6102_6102CG>G c.(6100-6102)ccgfs p.P2034fs DIDO1_uc002yds.2_Frame_Shift_Del_p.P2034fs NM_001193369 NP_149072 Q9BTC0 DIDO1_HUMAN Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA. 2034 Pro-rich. apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) TCCGGTGCTGCGGGGGGTGGC 0.721 SREBF2 6721 broad.mit.edu 37 22 42271637 42271637 + Frame_Shift_Del DEL C C - rs79727196 TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chr22:42271636_42271636TC>T uc003bbi.3 + 6 1463 c.1294_1294TC>T c.(1294-1296)tccfs p.S432fs bK250D10.C22.8_uc003bba.1_Intron|SREBF2_uc003bbj.3_Non-coding_Transcript NM_004599 NP_004590 Q12772 SRBP2_HUMAN Homo sapiens sterol regulatory element binding transcription factor 2 (SREBF2), mRNA. 432 Interaction with LMNA (By similarity). cholesterol metabolic process ER to Golgi transport vesicle membrane|Golgi membrane|SREBP-SCAP-Insig complex|nucleus protein C-terminus binding NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 CCTTCTGATGTCCCCCCCAGC 0.522 FAM155B 27112 broad.mit.edu 37 X 68725613 68725614 + Frame_Shift_Ins INS - - C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chrX:68725612_68725613G>GC uc004dxk.3 + 0 535_536 c.487_488G>GC c.(487-489)gccfs p.A163fs NM_015686 NP_056501 O75949 F155B_HUMAN Homo sapiens family with sequence similarity 155, member B (FAM155B), mRNA. 163 integral to membrane autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1) 16 GACTACTCCGGCCCCCCCTCTG 0.624 GPC4 2239 broad.mit.edu 37 X 132439923 132439923 + Frame_Shift_Del DEL G G - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 g.chrX:132439922_132439922TG>T uc004exc.1 - 5 1245 c.1033_1033CA>A c.(1033-1035)aagfs p.K345fs GPC4_uc011mvg.1_Frame_Shift_Del_p.K275fs NM_001448 NP_001439 O75487 GPC4_HUMAN Homo sapiens glypican 4 (GPC4), mRNA. 345 anatomical structure morphogenesis|cell proliferation anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding p.K345fs*49(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1) 28 Acute lymphoblastic leukemia(192;0.000127) GGGAGGGGCTTGGGGGGTCCA 0.592