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 ERRFI1 54206 broad.mit.edu 37 1 8074343 8074343 + Missense_Mutation SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr1:8074343G>A uc001aoz.2 - 4 565 c.316C>T c.(316-318)CAT>TAT p.H106Y ERRFI1_uc001apa.1_Missense_Mutation_p.H31Y NM_018948 NP_061821 Q9UJM3 ERRFI_HUMAN mitogen-inducible gene 6 protein 106 lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis cytoplasm|extrinsic to internal side of plasma membrane|nucleus protein kinase binding|Rho GTPase activator activity ovary(1) 1 Ovarian(185;0.06)|all_lung(157;0.151) all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642) TCCTCTTCATGTGGTCCCAAG 0.473000 EXOSC10 5394 broad.mit.edu 37 1 11140947 11140947 + Missense_Mutation SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr1:11140947G>A uc001asa.2 - 12 1510 c.1460C>T c.(1459-1461)ACG>ATG p.T487M EXOSC10_uc001asb.2_Missense_Mutation_p.T487M|EXOSC10_uc009vmy.1_Missense_Mutation_p.T487M NM_001001998 NP_001001998 Q01780 EXOSX_HUMAN exosome component 10 isoform 1 487 CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin 3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding upper_aerodigestive_tract(1) 1 Ovarian(185;0.249) Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202) GGACTCATCCGTGAAGATAGG 0.418000 AADACL4 343066 broad.mit.edu 37 1 12726597 12726597 + Missense_Mutation SNP C C T rs149313289 TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr1:12726597C>T uc001auf.2 + 4 1075 c.1075C>T c.(1075-1077)CGC>TGC p.R359C NM_001013630 NP_001013652 Q5VUY2 ADCL4_HUMAN arylacetamide deacetylase-like 4 359 Lumenal (Potential). integral to membrane carboxylesterase activity 0 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|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;0.0384) CTATAAGAAGCGCTTGGAGGA 0.498000 CELA2A 63036 broad.mit.edu 37 1 15794033 15794033 + Silent SNP G G A rs141124454 byFrequency TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr1:15794033G>A uc001awk.2 + 7 818 c.792G>A c.(790-792)TCG>TCA p.S264S NM_033440 NP_254275 P08217 CEL2A_HUMAN elastase 2A preproprotein 264 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity ovary(2) 2 GGATCAATTCGGTAAGAACCG 0.602000 OTUD3 23252 broad.mit.edu 37 1 20234063 20234063 + Missense_Mutation SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr1:20234063G>A uc001bcs.3 + 8 1140 c.1021G>A c.(1021-1023)GTC>ATC p.V341I NM_015207 NP_056022 Q5T2D3 OTUD3_HUMAN OTU domain containing 3 341 0 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) TCTCTCTCAGGTCACAAACAA 0.567000 BAI2 576 broad.mit.edu 37 1 32196483 32196483 + Missense_Mutation SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr1:32196483C>T uc001btn.2 - 29 4652 c.4298G>A c.(4297-4299)CGC>CAC p.R1433H BAI2_uc001btm.2_Missense_Mutation_p.R427H|BAI2_uc001btp.1_Missense_Mutation_p.R427H|BAI2_uc010ogn.1_Missense_Mutation_p.R403H|BAI2_uc010ogo.1_Missense_Mutation_p.R1042H|BAI2_uc010ogp.1_Missense_Mutation_p.R1366H|BAI2_uc010ogq.1_Missense_Mutation_p.R1400H|BAI2_uc001bto.2_Missense_Mutation_p.R1433H NM_001703 NP_001694 O60241 BAI2_HUMAN brain-specific angiogenesis inhibitor 2 1433 Cytoplasmic (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(5)|breast(4)|ovary(2)|central_nervous_system(1)|skin(1) 13 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174) STAD - Stomach adenocarcinoma(196;0.0557) GGGCACTTGGCGGGCGCTGGG 0.672000 GBP6 163351 broad.mit.edu 37 1 89845996 89845996 + Missense_Mutation SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr1:89845996G>A uc001dnf.2 + 6 951 c.677G>A c.(676-678)CGT>CAT p.R226H GBP6_uc010ost.1_Missense_Mutation_p.R96H NM_198460 NP_940862 Q6ZN66 GBP6_HUMAN guanylate binding protein family, member 6 226 GTP binding|GTPase activity ovary(2) 2 Lung NSC(277;0.0908) all cancers(265;0.0108)|Epithelial(280;0.0398) TGCATCAGGCGTTTCTTTCCA 0.413000 TCHHL1 126637 broad.mit.edu 37 1 152059398 152059398 + Nonsense_Mutation SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr1:152059398G>A uc001ezo.1 - 3 825 c.760C>T c.(760-762)CAG>TAG p.Q254* NM_001008536 NP_001008536 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 254 calcium ion binding ovary(1)|skin(1) 2 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) TTTCCTTCCTGTTCTCCAAAC 0.443000 OR6K3 391114 broad.mit.edu 37 1 158687131 158687131 + Missense_Mutation SNP A A T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr1:158687131A>T uc010pip.1 - 1 823 c.823T>A c.(823-825)TTG>ATG p.L275M NM_001005327 NP_001005327 Q8NGY3 OR6K3_HUMAN olfactory receptor, family 6, subfamily K, 275 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|kidney(1)|central_nervous_system(1) 3 all_hematologic(112;0.0378) CTGAAACGCAAGTACATGAGT 0.463000 OR6N2 81442 broad.mit.edu 37 1 158746588 158746588 + Missense_Mutation SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr1:158746588C>T uc010pir.1 - 1 838 c.838G>A c.(838-840)GTA>ATA p.V280I NM_001005278 NP_001005278 Q8NGY6 OR6N2_HUMAN olfactory receptor, family 6, subfamily N, 280 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_hematologic(112;0.0378) GGTGTTAGTACGGAGTAAACT 0.423000 OR6N2 81442 broad.mit.edu 37 1 158746952 158746952 + Silent SNP A A G TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr1:158746952A>G uc010pir.1 - 1 474 c.474T>C c.(472-474)TCT>TCC p.S158S NM_001005278 NP_001005278 Q8NGY6 OR6N2_HUMAN olfactory receptor, family 6, subfamily N, 158 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_hematologic(112;0.0378) GGATGACCTCAGAAATGGGAC 0.498000 OR6N2 81442 broad.mit.edu 37 1 158747263 158747263 + Silent SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr1:158747263G>A uc010pir.1 - 1 163 c.163C>T c.(163-165)CTG>TTG p.L55L NM_001005278 NP_001005278 Q8NGY6 OR6N2_HUMAN olfactory receptor, family 6, subfamily N, 55 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_hematologic(112;0.0378) GGTGTGTGCAGAGCTGCATCC 0.458000 B3GALT2 8707 broad.mit.edu 37 1 193149667 193149667 + Silent SNP T T C TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr1:193149667T>C uc001gtc.3 - 2 1741 c.1026A>G c.(1024-1026)GTA>GTG p.V342V CDC73_uc001gtb.2_Intron NM_003783 NP_003774 O43825 B3GT2_HUMAN UDP-Gal:betaGlcNAc beta 342 Lumenal (Potential). protein glycosylation Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity ovary(1) 1 TCCCTACATATACATCTTCCA 0.413000 FMN2 56776 broad.mit.edu 37 1 240555839 240555839 + Missense_Mutation SNP T T G TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr1:240555839T>G uc010pyd.1 + 15 5112 c.4887T>G c.(4885-4887)AAT>AAG p.N1629K FMN2_uc010pye.1_Missense_Mutation_p.N1633K|FMN2_uc010pyf.1_Missense_Mutation_p.N244K|FMN2_uc010pyg.1_Missense_Mutation_p.N225K NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 1629 FH2. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CAGAGGAAAATTCACTGACAG 0.338000 ADARB2 105 broad.mit.edu 37 10 1405717 1405717 + Missense_Mutation SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr10:1405717C>T uc009xhq.2 - 3 957 c.583G>A c.(583-585)GCC>ACC p.A195T NM_018702 NP_061172 Q9NS39 RED2_HUMAN adenosine deaminase, RNA-specific, B2 195 mRNA processing mitochondrion|nucleus adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding large_intestine(2)|central_nervous_system(1) 3 all_epithelial(10;0.059)|Colorectal(49;0.0815) all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165) GCCTGGCAGGCGTTGGGGAAC 0.577000 GDI2 2665 broad.mit.edu 37 10 5808111 5808111 + Missense_Mutation SNP A A C TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr10:5808111A>C uc001iil.3 - 11 1487 c.1196T>G c.(1195-1197)TTT>TGT p.F399C GDI2_uc001iim.3_Missense_Mutation_p.F354C|GDI2_uc009xid.2_Missense_Mutation_p.F403C NM_001494 NP_001485 P50395 GDIB_HUMAN GDP dissociation inhibitor 2 isoform 1 399 protein transport|small GTPase mediated signal transduction cell surface|cytosol|membrane protein binding|Rab GDP-dissociation inhibitor activity 0 GCGGGAAATAAAGATCTGAAA 0.403000 CUL2 8453 broad.mit.edu 37 10 35300856 35300856 + Missense_Mutation SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr10:35300856G>A uc001ixv.2 - 20 2236 c.2026C>T c.(2026-2028)CGG>TGG p.R676W CUL2_uc009xma.2_Missense_Mutation_p.R545W|CUL2_uc010qer.1_Missense_Mutation_p.R695W|CUL2_uc001ixw.2_Missense_Mutation_p.R676W NM_003591 NP_003582 Q13617 CUL2_HUMAN cullin 2 676 cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex ubiquitin protein ligase binding ovary(3) 3 TACATTTTCCGGTCCTCATCA 0.413000 RBP3 5949 broad.mit.edu 37 10 48390215 48390215 + Silent SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr10:48390215G>A uc001jez.2 - 1 777 c.663C>T c.(661-663)TAC>TAT p.Y221Y NM_002900 NP_002891 P10745 RET3_HUMAN retinol-binding protein 3 precursor 221 4 X approximate tandem repeats.|1. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity large_intestine(1)|central_nervous_system(1) 2 Vitamin A(DB00162) TGTCGGCACCGTACCTTTCTC 0.622000 CTNNA3 29119 broad.mit.edu 37 10 68138997 68138997 + Missense_Mutation SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr10:68138997G>A uc009xpn.1 - 12 1768 c.1645C>T c.(1645-1647)CAC>TAC p.H549Y CTNNA3_uc001jmw.2_Missense_Mutation_p.H549Y NM_001127384 NP_001120856 Q9UI47 CTNA3_HUMAN catenin, alpha 3 549 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1) 8 GTGACGATGTGAGCAACTCTT 0.483000 PDDC1 347862 broad.mit.edu 37 11 771346 771346 + Silent SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr11:771346G>A uc001lrc.2 - 6 556 c.531C>T c.(529-531)GGC>GGT p.G177G PDDC1_uc010qwm.1_Silent_p.G127G|PDDC1_uc001lrd.2_Silent_p.G177G|PDDC1_uc001lrf.1_3'UTR|PDDC1_uc001lrg.1_RNA|PDDC1_uc009ycg.2_Silent_p.G127G|PDDC1_uc010qwn.1_RNA|PDDC1_uc010qwo.1_RNA|PDDC1_uc010qwp.1_Silent_p.G141G|PDDC1_uc010qwq.1_Silent_p.G91G|PDDC1_uc010qwr.1_Silent_p.G177G|PDDC1_uc010qws.1_Silent_p.G127G NM_182612 NP_872418 Q8NB37 PDDC1_HUMAN Parkinson disease 7 domain containing 1 177 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) TGAAGCAGGCGCCCGAATCCT 0.701000 EIF3F 8665 broad.mit.edu 37 11 8009016 8009016 + Silent SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr11:8009016C>T uc001mfw.2 + 1 150 c.117C>T c.(115-117)CCC>CCT p.P39P EIF3F_uc010rbj.1_5'UTR NM_003754 NP_003745 O00303 EIF3F_HUMAN eukaryotic translation initiation factor 3, 39 cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity lung(1) 1 Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) ctccggttcccgctgcggctc 0.338000 OREG0020726 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) SLC22A11 55867 broad.mit.edu 37 11 64329769 64329769 + Missense_Mutation SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr11:64329769C>T uc001oai.2 + 4 1057 c.683C>T c.(682-684)GCG>GTG p.A228V SLC22A11_uc001oah.1_Silent_p.G193G|SLC22A11_uc001oaj.2_Missense_Mutation_p.A228V|SLC22A11_uc009ypq.2_Missense_Mutation_p.A228V|SLC22A11_uc001oak.1_Missense_Mutation_p.A57V NM_018484 NP_060954 Q9NSA0 S22AB_HUMAN solute carrier family 22 member 11 228 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) AGCAGGAGGGCGGTCACCATG 0.682000 EFEMP2 30008 broad.mit.edu 37 11 65634395 65634395 + Silent SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr11:65634395G>A uc001ofy.3 - 11 1520 c.1326C>T c.(1324-1326)ACC>ACT p.T442T EFEMP2_uc001ofz.2_RNA|EFEMP2_uc001oga.2_Intron NM_016938 NP_058634 O95967 FBLN4_HUMAN EGF-containing fibulin-like extracellular matrix 442 blood coagulation basement membrane|membrane calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity ovary(1) 1 READ - Rectum adenocarcinoma(159;0.169) CTCCTCAGAAGGTGTAGGCCC 0.567000 FAM181B 220382 broad.mit.edu 37 11 82444684 82444684 + Missense_Mutation SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr11:82444684C>T uc001ozp.2 - 1 223 c.88G>A c.(88-90)GGA>AGA p.G30R NM_175885 NP_787081 A6NEQ2 F181B_HUMAN hypothetical protein LOC220382 30 large_intestine(1) 1 TCCAGGGCTCCGAAGGCGCCC 0.736000 OR10G9 219870 broad.mit.edu 37 11 123894260 123894260 + Missense_Mutation SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr11:123894260C>T uc010sad.1 + 1 541 c.541C>T c.(541-543)CCG>TCG p.P181S NM_001001953 NP_001001953 Q8NGN4 O10G9_HUMAN olfactory receptor, family 10, subfamily G, 181 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) GTGTGATGCACCGCCCATCCT 0.532000 PARP11 57097 broad.mit.edu 37 12 3931156 3931156 + Missense_Mutation SNP T T C TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr12:3931156T>C uc001qmk.1 - 5 465 c.410A>G c.(409-411)CAC>CGC p.H137R PARP11_uc001qml.2_Missense_Mutation_p.H144R|PARP11_uc009zef.2_RNA|PARP11_uc001qmm.2_Missense_Mutation_p.H63R|PARP11_uc001qmn.2_Missense_Mutation_p.H63R NM_020367 NP_065100 Q9NR21 PAR11_HUMAN poly (ADP-ribose) polymerase family, member 11 137 PARP catalytic. NAD+ ADP-ribosyltransferase activity ovary(1)|central_nervous_system(1) 2 all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264) TGTTTGATTGTGCAGAGGAAT 0.348000 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C T rs121913530 TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr12:25398285C>T uc001rgp.1 - 2 215 c.34G>A c.(34-36)GGT>AGT p.G12S KRAS_uc001rgq.1_Missense_Mutation_p.G12S|KRAS_uc001rgr.2_RNA NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12G(6)|p.G12N(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1) large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1) 21052 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CCTACGCCACCAGCTCCAACT 0.348000 G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12C(CALU1_LUNG)|G12C(NCIH2030_LUNG)|G12C(LU99_LUNG)|G12C(NCIH1792_LUNG)|G12R(KP2_PANCREAS)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(NCIH2122_LUNG)|G12C(NCIH358_LUNG)|G12R(PSN1_PANCREAS)|G12C(KYSE410_OESOPHAGUS)|G12S(A549_LUNG)|G12R(HUPT3_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12C(HCC44_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(SW1463_LARGE_INTESTINE)|G12C(NCIH23_LUNG)|G12C(LU65_LUNG)|G12C(NCIH1373_LUNG)|G12C(MIAPACA2_PANCREAS)|G12R(HS274T_BREAST)|G12S(LS123_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(OV56_OVARY)|G12C(IALM_LUNG) 119 Mis pancreatic|colorectal|lung|thyroid|AML|others Cardiofaciocutaneous_syndrome|Noonan_syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) C12orf40 283461 broad.mit.edu 37 12 40077228 40077228 + Missense_Mutation SNP A A G TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr12:40077228A>G uc001rmc.2 + 9 1395 c.1228A>G c.(1228-1230)AAT>GAT p.N410D C12orf40_uc009zjv.1_RNA NM_001031748 NP_001026918 Q86WS4 CL040_HUMAN hypothetical protein LOC283461 410 ovary(6) 6 AAAATTTGAAAATGATTACCA 0.289000 SDR9C7 121214 broad.mit.edu 37 12 57324037 57324037 + Missense_Mutation SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr12:57324037C>T uc010sqw.1 - 2 533 c.533G>A c.(532-534)GGC>GAC p.G178D NM_148897 NP_683695 Q8NEX9 DR9C7_HUMAN short chain dehydrogenase/reductase family 9C, 178 cytoplasm binding|oxidoreductase activity central_nervous_system(1) 1 GGCCTCAACGCCAAACTTGGA 0.547000 ZFC3H1 196441 broad.mit.edu 37 12 72036243 72036243 + Missense_Mutation SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr12:72036243C>T uc001swo.2 - 6 1959 c.1600G>A c.(1600-1602)GAT>AAT p.D534N NM_144982 NP_659419 O60293 ZC3H1_HUMAN proline/serine-rich coiled-coil 2 534 RNA processing intracellular metal ion binding ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 CTATCTGTATCCATAGCAACT 0.368000 FGD6 55785 broad.mit.edu 37 12 95502125 95502125 + Missense_Mutation SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr12:95502125C>T uc001tdp.3 - 11 3487 c.3263G>A c.(3262-3264)CGG>CAG p.R1088Q FGD6_uc009zsx.2_Missense_Mutation_p.R221Q|FGD6_uc001tdq.1_Missense_Mutation_p.R124Q NM_018351 NP_060821 Q6ZV73 FGD6_HUMAN FYVE, RhoGEF and PH domain containing 6 1088 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(2)|breast(1) 3 AATGCTTACCCGACCAGGCTG 0.343000 C12orf49 79794 broad.mit.edu 37 12 117157596 117157596 + Missense_Mutation SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr12:117157596C>T uc001tvz.1 - 4 644 c.506G>A c.(505-507)TGC>TAC p.C169Y C12orf49_uc009zwm.1_Missense_Mutation_p.C139Y NM_024738 NP_079014 Q9H741 CL049_HUMAN hypothetical protein LOC79794 precursor 169 extracellular region ovary(1) 1 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0281) TTTGGCCAGGCACAACTCAAA 0.507000 TAOK3 51347 broad.mit.edu 37 12 118598020 118598020 + Silent SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr12:118598020C>T uc001twx.2 - 19 2578 c.2283G>A c.(2281-2283)CAG>CAA p.Q761Q TAOK3_uc001twv.2_Silent_p.Q301Q|TAOK3_uc001tww.2_Silent_p.Q591Q|TAOK3_uc001twy.3_Silent_p.Q761Q NM_016281 NP_057365 Q9H2K8 TAOK3_HUMAN TAO kinase 3 761 Potential. 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) GTTTTCTTGTCTGCTCATCTT 0.413000 GCN1L1 10985 broad.mit.edu 37 12 120613607 120613607 + Silent SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr12:120613607C>T uc001txo.2 - 11 997 c.984G>A c.(982-984)CAG>CAA p.Q328Q NM_006836 NP_006827 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 328 HEAT 2. regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding ovary(4) 4 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) AGTCACTGCACTGGCGTGCCA 0.582000 LRRC43 254050 broad.mit.edu 37 12 122684793 122684793 + Silent SNP C C T rs141017122 by1000genomes TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr12:122684793C>T uc009zxm.2 + 8 1432 c.1407C>T c.(1405-1407)TAC>TAT p.Y469Y LRRC43_uc001ubw.3_Silent_p.Y284Y|LRRC43_uc009zxn.2_Silent_p.Y230Y NM_001098519 NP_001091989 Q8N309 LRC43_HUMAN leucine rich repeat containing 43 isoform 1 469 0 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225) CCTGCAGTTACGAGATGCAGC 0.652000 ULK1 8408 broad.mit.edu 37 12 132403121 132403121 + Silent SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr12:132403121C>T uc001uje.2 + 23 2674 c.2406C>T c.(2404-2406)CTC>CTT p.L802L NM_003565 NP_003556 O75385 ULK1_HUMAN Unc-51-like kinase 1 802 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) CCCCTGAGCTCCCTGCTCCAG 0.697000 SACS 26278 broad.mit.edu 37 13 23905259 23905259 + Silent SNP A A G TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr13:23905259A>G uc001uon.2 - 10 13345 c.12756T>C c.(12754-12756)TCT>TCC p.S4252S SACS_uc001uoo.2_Silent_p.S4105S|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 4252 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding p.T4252S(1) ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) CCCTGCTTTGAGAGCTTTCCT 0.433000 MTUS2 23281 broad.mit.edu 37 13 29855958 29855958 + Missense_Mutation SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr13:29855958G>A uc001usl.3 + 4 2850 c.2792G>A c.(2791-2793)CGC>CAC p.R931H NM_001033602 NP_001028774 Q5JR59 MTUS2_HUMAN hypothetical protein LOC23281 isoform a 921 Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1. cytoplasm|microtubule microtubule binding|protein homodimerization activity 0 ACAGCACCCCGCAGGAGTTTA 0.572000 TNFSF11 8600 broad.mit.edu 37 13 43175104 43175104 + Silent SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr13:43175104C>T uc001uyu.2 + 4 668 c.519C>T c.(517-519)ACC>ACT p.T173T TNFSF11_uc001uyt.2_Silent_p.T100T NM_003701 NP_003692 O14788 TNF11_HUMAN tumor necrosis factor ligand superfamily, member 173 Extracellular (Potential). immune response|monocyte chemotaxis|osteoclast differentiation|positive regulation of bone resorption|positive regulation of corticotropin-releasing hormone secretion|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of homotypic cell-cell adhesion|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell activation cytoplasm|extracellular space|integral to plasma membrane cytokine activity|receptor activity|tumor necrosis factor receptor binding 0 Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073) TTAATGCCACCGACATCCCAT 0.433000 AP1G2 8906 broad.mit.edu 37 14 24033828 24033828 + Silent SNP C C A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr14:24033828C>A uc001wkl.2 - 9 1201 c.864G>T c.(862-864)GCG>GCT p.A288A AP1G2_uc001wkj.2_5'UTR|AP1G2_uc001wkk.3_Silent_p.A216A|AP1G2_uc001wkn.2_5'UTR|uc001wko.1_Intron|AP1G2_uc001wkp.1_RNA|AP1G2_uc010tnp.1_Silent_p.A288A NM_003917 NP_003908 O75843 AP1G2_HUMAN adaptor-related protein complex 1, gamma 2 288 interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport AP-1 adaptor complex|endosome membrane protein binding|protein transporter activity ovary(1) 1 all_cancers(95;0.000251) GBM - Glioblastoma multiforme(265;0.00672) CAAACAGGACCGCATTTCCGG 0.547000 SPATA7 55812 broad.mit.edu 37 14 88904415 88904415 + Missense_Mutation SNP G G T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr14:88904415G>T uc001xwq.2 + 12 1600 c.1449G>T c.(1447-1449)GAG>GAT p.E483D SPATA7_uc001xwr.2_Missense_Mutation_p.E451D|SPATA7_uc001xws.2_Missense_Mutation_p.E419D|SPATA7_uc001xwt.2_Missense_Mutation_p.E377D|SPATA7_uc001xwu.2_Intron NM_018418 NP_060888 Q9P0W8 SPAT7_HUMAN spermatogenesis-associated protein 7 isoform a 483 response to stimulus|visual perception ovary(1) 1 ATGAGAACGAGATATTCCCTT 0.338000 GPR68 8111 broad.mit.edu 37 14 91700984 91700984 + Silent SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr14:91700984C>T uc001xzg.2 - 2 752 c.411G>A c.(409-411)GCG>GCA p.A137A GPR68_uc001xzh.2_Silent_p.A147A NM_003485 NP_003476 Q15743 OGR1_HUMAN G protein-coupled receptor 68 137 Helical; Name=4; (Potential). inflammatory response integral to plasma membrane G-protein coupled receptor activity kidney(1) 1 all_cancers(154;0.0555) COAD - Colon adenocarcinoma(157;0.21) CGCCGACGGCCGCCTTCAGGG 0.627000 SLC24A4 123041 broad.mit.edu 37 14 92949146 92949146 + Missense_Mutation SNP G G A rs138016047 TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr14:92949146G>A uc001yak.2 + 13 1351 c.1327G>A c.(1327-1329)GCC>ACC p.A443T SLC24A4_uc001yai.2_Missense_Mutation_p.A396T|SLC24A4_uc010twm.1_Missense_Mutation_p.A441T|SLC24A4_uc001yaj.2_Missense_Mutation_p.A424T|SLC24A4_uc010auj.2_Missense_Mutation_p.A332T|SLC24A4_uc010twn.1_Missense_Mutation_p.A216T|SLC24A4_uc001yan.2_Missense_Mutation_p.A154T NM_153646 NP_705932 Q8NFF2 NCKX4_HUMAN solute carrier family 24 member 4 isoform 1 460 Helical; (Potential). integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(2)|ovary(1) 3 all_cancers(154;0.0347)|all_epithelial(191;0.163) Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182) CTTCATCACCGCCACGCTGTG 0.522000 PPP2R5C 5527 broad.mit.edu 37 14 102349794 102349794 + Missense_Mutation SNP A A T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr14:102349794A>T uc001yko.2 + 5 664 c.524A>T c.(523-525)GAT>GTT p.D175V PPP2R5C_uc010txr.1_Missense_Mutation_p.D206V|PPP2R5C_uc001ykk.2_Missense_Mutation_p.D230V|PPP2R5C_uc010txt.1_Missense_Mutation_p.D165V|PPP2R5C_uc001ykn.2_Missense_Mutation_p.D175V|PPP2R5C_uc001ykp.2_Missense_Mutation_p.D175V|PPP2R5C_uc001ykq.2_Missense_Mutation_p.D73V|uc001ykr.1_5'Flank NM_002719 NP_002710 Q13362 2A5G_HUMAN gamma isoform of regulatory subunit B56, protein 175 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|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction chromosome, centromeric region|nucleus|protein phosphatase type 2A complex protein binding|protein binding|protein phosphatase type 2A regulator activity|protein phosphatase type 2A regulator activity ovary(1)|breast(1) 2 GACAGTGAAGATCCTCGGGAG 0.388000 RYR3 6263 broad.mit.edu 37 15 34072507 34072507 + Missense_Mutation SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr15:34072507C>T uc001zhi.2 + 65 9303 c.9233C>T c.(9232-9234)TCG>TTG p.S3078L RYR3_uc010bar.2_Missense_Mutation_p.S3078L NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 3078 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) AATCCACTCTCGGTCTTCAAC 0.557000 PML 5371 broad.mit.edu 37 15 74315474 74315474 + Missense_Mutation SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr15:74315474C>T uc002awv.2 + 3 1048 c.908C>T c.(907-909)GCG>GTG p.A303V PML_uc002awm.2_Missense_Mutation_p.A303V|PML_uc002awl.2_Missense_Mutation_p.A303V|PML_uc002awj.1_Missense_Mutation_p.A303V|PML_uc002awk.2_Missense_Mutation_p.A303V|PML_uc002awn.2_Missense_Mutation_p.A303V|PML_uc002awo.2_Missense_Mutation_p.A303V|PML_uc002awp.2_Missense_Mutation_p.A303V|PML_uc002awq.2_Missense_Mutation_p.A303V|PML_uc002awr.2_Missense_Mutation_p.A303V|PML_uc002aws.2_Missense_Mutation_p.A303V|PML_uc002awt.2_Missense_Mutation_p.A303V|PML_uc002awu.2_Missense_Mutation_p.A303V|PML_uc010ule.1_Intron|PML_uc002aww.1_Missense_Mutation_p.A218V|PML_uc002awx.2_Missense_Mutation_p.A61V|PML_uc002awy.2_5'Flank NM_033238 NP_150241 P29590 PML_HUMAN promyelocytic leukemia protein isoform 1 303 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 GCTGTGGACGCGCGGTACCAG 0.716000 T RARA|PAX5 APL|ALL ADAMTS17 170691 broad.mit.edu 37 15 100657064 100657064 + Missense_Mutation SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr15:100657064C>T uc002bvv.1 - 13 1955 c.1876G>A c.(1876-1878)GTG>ATG p.V626M ADAMTS17_uc002bvx.1_Missense_Mutation_p.V383M NM_139057 NP_620688 Q8TE56 ATS17_HUMAN ADAM metallopeptidase with thrombospondin type 1 626 Cys-rich. proteolysis intracellular|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571) OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161) COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219) TCAACCACCACGGCTGTCAGC 0.612000 ADAMTS17 170691 broad.mit.edu 37 15 100695514 100695514 + Missense_Mutation SNP T T G TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr15:100695514T>G uc002bvv.1 - 9 1272 c.1193A>C c.(1192-1194)AAC>ACC p.N398T ADAMTS17_uc002bvx.1_Missense_Mutation_p.N155T NM_139057 NP_620688 Q8TE56 ATS17_HUMAN ADAM metallopeptidase with thrombospondin type 1 398 Peptidase M12B. proteolysis intracellular|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571) OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161) COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219) ATCGTCGTGGTTCATGCCCAA 0.537000 TMEM8A 58986 broad.mit.edu 37 16 426761 426761 + Silent SNP G G A rs146605667 byFrequency TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr16:426761G>A uc002cgu.3 - 5 816 c.687C>T c.(685-687)TGC>TGT p.C229C TMEM8A_uc002cgv.3_Silent_p.C36C NM_021259 NP_067082 Q9HCN3 TMM8A_HUMAN transmembrane protein 8 (five membrane-spanning 229 Extracellular (Potential). cell adhesion integral to plasma membrane central_nervous_system(2)|pancreas(1) 3 CATTGGACACGCAGTCCCGCA 0.662000 SMG1 23049 broad.mit.edu 37 16 18827647 18827647 + Missense_Mutation SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr16:18827647G>A uc002dfm.2 - 58 10642 c.10279C>T c.(10279-10281)CAT>TAT p.H3427Y SMG1_uc010bwb.2_Missense_Mutation_p.H3287Y|SMG1_uc010bwa.2_Missense_Mutation_p.H2158Y NM_015092 NP_055907 Q96Q15 SMG1_HUMAN PI-3-kinase-related kinase SMG-1 3427 DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1) 16 TTCAAGAGATGTTTGACATCT 0.358000 ACSM2A 123876 broad.mit.edu 37 16 20497994 20497994 + Silent SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr16:20497994G>A uc010bwe.2 + 15 1967 c.1728G>A c.(1726-1728)GCG>GCA p.A576A ACSM2A_uc002dhf.3_Silent_p.A576A|ACSM2A_uc002dhg.3_Silent_p.A576A|ACSM2A_uc010vay.1_Silent_p.A497A|ACSM2A_uc002dhh.3_Silent_p.A206A|uc002dhi.1_5'Flank NM_001010845 NP_001010845 Q08AH3 ACS2A_HUMAN acyl-CoA synthetase medium-chain family member 576 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding skin(2)|breast(1) 3 AAGCCCGTGCGCAGTGAGACA 0.453000 SLC5A11 115584 broad.mit.edu 37 16 24922747 24922747 + Missense_Mutation SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr16:24922747G>A uc002dmu.2 + 16 2153 c.1921G>A c.(1921-1923)GCC>ACC p.A641T SLC5A11_uc002dms.2_Missense_Mutation_p.A577T|SLC5A11_uc010vcd.1_Missense_Mutation_p.A606T|SLC5A11_uc002dmt.2_Missense_Mutation_p.A485T|SLC5A11_uc010vce.1_Missense_Mutation_p.A571T|SLC5A11_uc010bxt.2_Missense_Mutation_p.A577T|SLC5A11_uc002dmv.2_Missense_Mutation_p.A264T NM_052944 NP_443176 Q8WWX8 SC5AB_HUMAN solute carrier family 5 (sodium/glucose 641 Cytoplasmic (Potential). apoptosis|carbohydrate transport|sodium ion transport integral to membrane|plasma membrane polyol transmembrane transporter activity|symporter activity ovary(2) 2 GBM - Glioblastoma multiforme(48;0.0365) CAGAGCAGAAGCCATCATAGT 0.532000 NFAT5 10725 broad.mit.edu 37 16 69727007 69727007 + Missense_Mutation SNP A A C TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr16:69727007A>C uc002exm.1 + 12 4433 c.3225A>C c.(3223-3225)CAA>CAC p.Q1075H NFAT5_uc002exi.2_Missense_Mutation_p.Q999H|NFAT5_uc002exj.1_Missense_Mutation_p.Q999H|NFAT5_uc002exk.1_Missense_Mutation_p.Q999H|NFAT5_uc002exl.1_Missense_Mutation_p.Q1093H|NFAT5_uc002exn.1_Missense_Mutation_p.Q1092H|NFAT5_uc002exo.1_RNA NM_006599 NP_006590 O94916 NFAT5_HUMAN nuclear factor of activated T-cells 5 isoform c 1075 excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity 0 TTCATCCTCAAAATCCTATTG 0.418000 SUPT6H 6830 broad.mit.edu 37 17 27024707 27024707 + Missense_Mutation SNP C C G TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr17:27024707C>G uc002hby.2 + 31 4369 c.4279C>G c.(4279-4281)CTG>GTG p.L1427V SUPT6H_uc010crt.2_Missense_Mutation_p.L1427V NM_003170 NP_003161 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog 1427 SH2. chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|skin(1) 3 Lung NSC(42;0.00431) CCGGGACCTTCTGAATCACAA 0.522000 PPM1D 8493 broad.mit.edu 37 17 58701061 58701061 + Missense_Mutation SNP A A G TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr17:58701061A>G uc002iyt.1 + 2 874 c.652A>G c.(652-654)AAG>GAG p.K218E PPM1D_uc010ddm.1_RNA NM_003620 NP_003611 O15297 PPM1D_HUMAN protein phosphatase 1D 218 PP2C-like. negative regulation of cell proliferation|protein dephosphorylation|response to radiation nucleus|protein serine/threonine phosphatase complex metal ion binding|protein binding|protein serine/threonine phosphatase activity upper_aerodigestive_tract(1) 1 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;6.75e-12)|all cancers(12;1.96e-10) ACAGGACCATAAGCCAGAACT 0.463000 SCN4A 6329 broad.mit.edu 37 17 62018998 62018998 + Silent SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr17:62018998G>A uc002jds.1 - 24 4721 c.4644C>T c.(4642-4644)AGC>AGT p.S1548S NM_000334 NP_000325 P35499 SCN4A_HUMAN voltage-gated sodium channel type 4 alpha 1548 IV. muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(1)|pancreas(1)|skin(1) 3 Lamotrigine(DB00555) CTGGGGGCCCGCTGTTGAGGA 0.597000 EMILIN2 84034 broad.mit.edu 37 18 2891281 2891281 + Missense_Mutation SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr18:2891281C>T uc002kln.2 + 4 1315 c.1156C>T c.(1156-1158)CGG>TGG p.R386W NM_032048 NP_114437 Q9BXX0 EMIL2_HUMAN elastin microfibril interfacer 2 precursor 386 Potential. cell adhesion collagen extracellular matrix constituent conferring elasticity|protein binding skin(2)|ovary(1) 3 READ - Rectum adenocarcinoma(2;0.1) CCTCCGAGCCCGGCTACAGGA 0.488000 EPB41L3 23136 broad.mit.edu 37 18 5397280 5397280 + Missense_Mutation SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr18:5397280G>A uc002kmt.1 - 18 2704 c.2618C>T c.(2617-2619)TCG>TTG p.S873L EPB41L3_uc010wzh.1_Missense_Mutation_p.S704L|EPB41L3_uc002kmu.1_Missense_Mutation_p.S651L|EPB41L3_uc010dkq.1_Missense_Mutation_p.S542L|EPB41L3_uc002kms.1_Missense_Mutation_p.S108L|EPB41L3_uc010wze.1_Missense_Mutation_p.S178L|EPB41L3_uc010wzf.1_Missense_Mutation_p.S170L|EPB41L3_uc010wzg.1_Missense_Mutation_p.S145L|EPB41L3_uc010dkr.2_Missense_Mutation_p.S265L NM_012307 NP_036439 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 873 Carboxyl-terminal (CTD). cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity ovary(5) 5 GTCTCCCGCCGAGTAAGAAGC 0.622000 RNF152 220441 broad.mit.edu 37 18 59483133 59483133 + Silent SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr18:59483133G>A uc002lih.1 - 2 976 c.564C>T c.(562-564)CAC>CAT p.H188H NM_173557 NP_775828 Q8N8N0 RN152_HUMAN ring finger protein 152 188 apoptosis|protein K48-linked ubiquitination integral to membrane|lysosomal membrane ubiquitin-protein ligase activity|zinc ion binding breast(1) 1 Colorectal(73;0.186) AAGACATGTTGTGAAGCACGA 0.562000 TSHZ1 10194 broad.mit.edu 37 18 72997563 72997563 + Silent SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr18:72997563G>A uc002lly.2 + 2 629 c.66G>A c.(64-66)GCG>GCA p.A22A NM_005786 NP_005777 Q6ZSZ6 TSH1_HUMAN teashirt family zinc finger 1 67 Ser-rich. 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) TCAGCTCTGCGACTAACCAGG 0.557000 C19orf26 255057 broad.mit.edu 37 19 1231232 1231232 + Missense_Mutation SNP C C G TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr19:1231232C>G uc002lrm.2 - 9 1279 c.1004G>C c.(1003-1005)AGT>ACT p.S335T NM_152769 NP_689982 Q8N350 DOS_HUMAN downstream of Stk11 361 integral to membrane 0 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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) CGTGCTCTCACTGGCTGCCCG 0.706000 HNSCC(14;0.022) CPAMD8 27151 broad.mit.edu 37 19 17068679 17068679 + Missense_Mutation SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr19:17068679G>A uc002nfb.2 - 19 2433 c.2401C>T c.(2401-2403)CAT>TAT p.H801Y NM_015692 NP_056507 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain 754 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1) 13 TTGAGACAATGCCAAATCCAT 0.403000 NCAN 1463 broad.mit.edu 37 19 19359647 19359647 + Missense_Mutation SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr19:19359647G>A uc002nlz.2 + 14 3875 c.3776G>A c.(3775-3777)CGG>CAG p.R1259Q NCAN_uc002nma.2_Missense_Mutation_p.G15R NM_004386 NP_004377 O14594 NCAN_HUMAN chondroitin sulfate proteoglycan 3 precursor 1259 Sushi. axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding ovary(4) 4 Epithelial(12;0.00544) ATTCGATGCCGGAGCAATGGC 0.502000 ATP4A 495 broad.mit.edu 37 19 36051409 36051409 + Missense_Mutation SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr19:36051409G>A uc002oal.1 - 6 672 c.643C>T c.(643-645)CGC>TGC p.R215C ATP4A_uc010eee.1_5'Flank NM_000704 NP_000695 P20648 ATP4A_HUMAN hydrogen/potassium-exchanging ATPase 4A 215 Cytoplasmic (Potential). ATP biosynthetic process|ATP hydrolysis coupled proton transport integral to plasma membrane ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding ovary(1) 1 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831) GCCAGGATGCGGATGTCGGCG 0.627000 CYP2S1 29785 broad.mit.edu 37 19 41712326 41712326 + Missense_Mutation SNP A A G TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr19:41712326A>G uc002opw.2 + 9 1503 c.1448A>G c.(1447-1449)AAC>AGC p.N483S CYP2F1_uc010xvw.1_Intron|CYP2S1_uc010xvx.1_Missense_Mutation_p.N208S NM_030622 NP_085125 Q96SQ9 CP2S1_HUMAN cytochrome P450, family 2, subfamily S, 483 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity skin(1) 1 GGCCTTTTCAACATTCCCCCA 0.602000 PSG3 5671 broad.mit.edu 37 19 43233295 43233295 + Missense_Mutation SNP G G T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr19:43233295G>T uc002oue.2 - 5 1355 c.1223C>A c.(1222-1224)TCC>TAC p.S408Y PSG3_uc002ouf.2_RNA|PSG1_uc002oug.1_Missense_Mutation_p.S408Y|PSG3_uc010eil.2_Missense_Mutation_p.S430Y NM_021016 NP_066296 Q16557 PSG3_HUMAN pregnancy specific beta-1-glycoprotein 3 408 Ig-like C2-type 3. defense response|female pregnancy extracellular region ovary(1)|skin(1) 2 Prostate(69;0.00682) GACTGTCATGGATTTGGAGCT 0.463000 SLC8A2 6543 broad.mit.edu 37 19 47933453 47933453 + Missense_Mutation SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr19:47933453C>T uc002pgx.2 - 10 2937 c.2659G>A c.(2659-2661)GGC>AGC p.G887S SLC8A2_uc010xyq.1_Missense_Mutation_p.G643S|SLC8A2_uc010xyr.1_Missense_Mutation_p.G350S|SLC8A2_uc010ele.2_Missense_Mutation_p.R913Q NM_015063 NP_055878 Q9UPR5 NAC2_HUMAN solute carrier family 8 member 2 precursor 887 Extracellular (Potential). cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding skin(3)|ovary(1) 4 all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173) OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457) CCGCGCGGGCCGCCCAGCTCG 0.701000 NT5C1B 93034 broad.mit.edu 37 2 18766140 18766140 + Silent SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr2:18766140C>T uc002rcz.2 - 5 647 c.543G>A c.(541-543)GCG>GCA p.A181A NT5C1B_uc002rcy.2_Silent_p.A181A|NT5C1B_uc010exr.2_Silent_p.A123A|NT5C1B_uc010yju.1_Silent_p.A121A|NT5C1B_uc002rda.2_Silent_p.A121A|NT5C1B_uc010yjv.1_Silent_p.A198A|NT5C1B_uc010yjw.1_Silent_p.A164A|NT5C1B_uc010exs.2_Silent_p.A183A|NT5C1B_uc002rdb.1_5'UTR NM_001002006 NP_001002006 Q96P26 5NT1B_HUMAN 5' nucleotidase, cytosolic IB isoform 1 181 Pro-rich. purine base metabolic process|purine nucleotide catabolic process cytosol 5'-nucleotidase activity|magnesium ion binding|nucleotide binding skin(2)|ovary(1) 3 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177) Ovarian(717;0.208) GCTGGGGCGACGCGGGTGGCT 0.716000 SLC5A6 8884 broad.mit.edu 37 2 27427688 27427688 + Silent SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr2:27427688G>A uc002rjd.2 - 8 1237 c.846C>T c.(844-846)CTC>CTT p.L282L SLC5A6_uc010eyv.1_Silent_p.L282L NM_021095 NP_066918 Q9Y289 SC5A6_HUMAN solute carrier family 5 (sodium-dependent 282 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) TGCGGGAACTGAGGTACCGCT 0.597000 BIRC6 57448 broad.mit.edu 37 2 32670603 32670603 + Missense_Mutation SNP T T C TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr2:32670603T>C uc010ezu.2 + 21 4485 c.4351T>C c.(4351-4353)TAT>CAT p.Y1451H NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 1451 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) TGTCTATTGGTATTTTGTCTT 0.348000 FAM98A 25940 broad.mit.edu 37 2 33810313 33810313 + Missense_Mutation SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr2:33810313G>A uc002rpa.1 - 8 1161 c.1087C>T c.(1087-1089)CGT>TGT p.R363C FAM98A_uc010yne.1_Missense_Mutation_p.R168C|FAM98A_uc010ynd.1_Missense_Mutation_p.R194C|FAM98A_uc002roz.1_Missense_Mutation_p.R201C NM_015475 NP_056290 Q8NCA5 FA98A_HUMAN hypothetical protein LOC25940 364 Gly-rich. ovary(1) 1 all_hematologic(175;0.115) TAGCCACCACGTCCACCTCTC 0.587000 SLC4A5 57835 broad.mit.edu 37 2 74460534 74460534 + Missense_Mutation SNP G G T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr2:74460534G>T uc002sko.1 - 18 2592 c.2590C>A c.(2590-2592)CTG>ATG p.L864M SLC4A5_uc002skl.2_RNA|SLC4A5_uc002skn.2_Missense_Mutation_p.L864M|SLC4A5_uc010ffc.1_Missense_Mutation_p.L864M|SLC4A5_uc002skp.1_Missense_Mutation_p.L762M|SLC4A5_uc002sks.1_Missense_Mutation_p.L826M NM_021196 NP_067019 Q9BY07 S4A5_HUMAN sodium bicarbonate transporter 4 isoform a 864 Extracellular (Potential). apical plasma membrane|integral to membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity ovary(5)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 9 CTTACCTTCAGTTTGTTCTCC 0.512000 SMYD1 150572 broad.mit.edu 37 2 88405935 88405935 + Missense_Mutation SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr2:88405935C>T uc002ssr.2 + 8 1075 c.1073C>T c.(1072-1074)TCG>TTG p.S358L SMYD1_uc002ssq.1_Intron|SMYD1_uc002sss.2_Missense_Mutation_p.S54L NM_198274 NP_938015 Q8NB12 SMYD1_HUMAN SET and MYND domain containing 1 358 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding ovary(2)|lung(1)|skin(1) 4 AGCATTGTTTCGGAGGTCCTT 0.522000 THSD7B 80731 broad.mit.edu 37 2 137928482 137928482 + Missense_Mutation SNP T T C TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr2:137928482T>C uc002tva.1 + 6 1604 c.1604T>C c.(1603-1605)CTG>CCG p.L535P THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Missense_Mutation_p.L425P NM_001080427 NP_001073896 thrombospondin, type I, domain containing 7B ovary(4)|central_nervous_system(2)|pancreas(1) 7 BRCA - Breast invasive adenocarcinoma(221;0.19) CATCGTATTCTGAAGGCCGTC 0.493000 GALNT13 114805 broad.mit.edu 37 2 155295200 155295200 + Missense_Mutation SNP C C A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr2:155295200C>A uc002tyr.3 + 12 2059 c.1492C>A c.(1492-1494)CAT>AAT p.H498N GALNT13_uc002tyt.3_Missense_Mutation_p.H498N|GALNT13_uc010fod.2_Missense_Mutation_p.P230Q|uc002tyu.1_Intron NM_052917 NP_443149 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 498 Ricin B-type lectin.|Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1) 6 AAAATGCCACCATATGAGAGG 0.338000 XIRP2 129446 broad.mit.edu 37 2 167760210 167760210 + Missense_Mutation SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr2:167760210C>T uc002udx.2 + 1 236 c.218C>T c.(217-219)TCG>TTG p.S73L XIRP2_uc010fpn.2_Missense_Mutation_p.S73L|XIRP2_uc010fpo.2_Missense_Mutation_p.S73L|XIRP2_uc010fpp.2_Missense_Mutation_p.S73L NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 Error:Variant_position_missing_in_A4UGR9_after_alignment actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 ATGTGGAGTTCGAAGCCGGAA 0.522000 OSBPL6 114880 broad.mit.edu 37 2 179247234 179247234 + Missense_Mutation SNP A A C TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr2:179247234A>C uc002ulx.2 + 16 1999 c.1621A>C c.(1621-1623)ATC>CTC p.I541L OSBPL6_uc002ulw.2_Missense_Mutation_p.S474R|OSBPL6_uc002uly.2_Missense_Mutation_p.I566L|OSBPL6_uc010zfe.1_Missense_Mutation_p.I510L|OSBPL6_uc002ulz.2_Missense_Mutation_p.I505L|OSBPL6_uc002uma.2_Missense_Mutation_p.I545L NM_032523 NP_115912 Q9BZF3 OSBL6_HUMAN oxysterol-binding protein-like protein 6 isoform 541 lipid transport lipid binding pancreas(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335) TTCTCGGCAAAGTATGCATCA 0.448000 TTN 7273 broad.mit.edu 37 2 179585348 179585348 + Missense_Mutation SNP A A G TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr2:179585348A>G uc010zfg.1 - 77 19633 c.19409T>C c.(19408-19410)CTT>CCT p.L6470P TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.L3131P NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 7397 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) AGAACCTTTAAGAGCTCCTAC 0.393000 ERBB4 2066 broad.mit.edu 37 2 212522548 212522548 + Missense_Mutation SNP T T G TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr2:212522548T>G uc002veg.1 - 16 1975 c.1877A>C c.(1876-1878)AAC>ACC p.N626T ERBB4_uc002veh.1_Missense_Mutation_p.N626T|ERBB4_uc010zji.1_Intron|ERBB4_uc010zjj.1_Intron|ERBB4_uc010fut.1_Missense_Mutation_p.N626T NM_005235 NP_005226 Q15303 ERBB4_HUMAN v-erb-a erythroblastic leukemia viral oncogene 626 Extracellular (Potential).|Cys-rich. 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) AGTGGGACCGTTACACCTGCA 0.473000 TSP Lung(8;0.080) PID1 55022 broad.mit.edu 37 2 229890648 229890648 + Missense_Mutation SNP T T A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr2:229890648T>A uc002vpr.3 - 3 491 c.453A>T c.(451-453)AAA>AAT p.K151N PID1_uc002vps.3_Missense_Mutation_p.K149N|PID1_uc002vpt.3_Missense_Mutation_p.K118N|PID1_uc002vpu.3_Missense_Mutation_p.K69N NM_001100818 NP_001094288 Q7Z2X4 PCLI1_HUMAN phosphotyrosine interaction domain containing 1 151 PID. cytoplasm breast(3)|skin(1) 4 Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171) Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189) TGGCCTCCCCTTTGTGGTCGA 0.587000 SNPH 9751 broad.mit.edu 37 20 1277819 1277819 + Missense_Mutation SNP T T A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr20:1277819T>A uc002wes.2 + 4 317 c.81T>A c.(79-81)GAT>GAA p.D27E SNPH_uc002wet.2_Missense_Mutation_p.D71E NM_014723 NP_055538 O15079 SNPH_HUMAN syntaphilin 27 synaptic vesicle docking involved in exocytosis cell junction|integral to membrane|synapse|synaptosome syntaxin-1 binding ovary(2) 2 GCGTGCGGGATGCCTACGGCA 0.637000 C20orf194 25943 broad.mit.edu 37 20 3262288 3262288 + Nonsense_Mutation SNP T T A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr20:3262288T>A uc002wii.2 - 28 2662 c.2611A>T c.(2611-2613)AGA>TGA p.R871* C20orf194_uc002wij.3_Nonsense_Mutation_p.R610*|C20orf194_uc002wik.2_Nonsense_Mutation_p.R545* NM_001009984 NP_001009984 Q5TEA3 CT194_HUMAN hypothetical protein LOC25943 871 0 TGTATCTACCTGTGCTCCATG 0.488000 MAVS 57506 broad.mit.edu 37 20 3846340 3846340 + Missense_Mutation SNP C C G TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr20:3846340C>G uc002wjw.3 + 7 1338 c.1169C>G c.(1168-1170)GCA>GGA p.A390G MAVS_uc002wjx.3_Missense_Mutation_p.A249G|MAVS_uc002wjy.3_Missense_Mutation_p.A88G NM_020746 NP_065797 Q7Z434 MAVS_HUMAN virus-induced signaling adapter 390 Cytoplasmic (Probable). activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus integral to membrane|mitochondrial outer membrane CARD domain binding|protein kinase binding|signal transducer activity 0 GAGACCCCAGCAGCTCCAACA 0.637000 KIF16B 55614 broad.mit.edu 37 20 16359862 16359862 + Missense_Mutation SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr20:16359862C>T uc002wpg.1 - 19 2943 c.2785G>A c.(2785-2787)GAA>AAA p.E929K KIF16B_uc002wpe.1_Missense_Mutation_p.E311K|KIF16B_uc002wpf.1_Missense_Mutation_p.E311K|KIF16B_uc010gch.1_Missense_Mutation_p.E929K|KIF16B_uc010gci.1_Missense_Mutation_p.E929K|KIF16B_uc010gcj.1_Missense_Mutation_p.E940K NM_024704 NP_078980 Q96L93 KI16B_HUMAN kinesin-like motor protein C20orf23 929 Glu-rich. cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1) 8 TCAAGAATTTCAAATGCTCTC 0.438000 CST8 10047 broad.mit.edu 37 20 23472384 23472384 + Missense_Mutation SNP A A G TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr20:23472384A>G uc002wth.1 + 2 437 c.80A>G c.(79-81)AAT>AGT p.N27S NM_005492 NP_005483 O60676 CST8_HUMAN cystatin 8 precursor 27 extracellular region cysteine-type endopeptidase inhibitor activity 0 Colorectal(13;0.0431)|Lung NSC(19;0.235) CCAAAAAAGAATGAGACAGGG 0.537000 C20orf114 92747 broad.mit.edu 37 20 31889103 31889103 + Missense_Mutation SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr20:31889103C>T uc002wyw.1 + 9 973 c.812C>T c.(811-813)ACA>ATA p.T271I C20orf114_uc002wyx.1_5'Flank NM_033197 NP_149974 Q8TDL5 LPLC1_HUMAN LPLUNC1 protein precursor 271 extracellular space lipid binding central_nervous_system(2)|skin(2) 4 GCTTCCCTGACAATGCCCACC 0.522000 TGIF2 60436 broad.mit.edu 37 20 35207182 35207182 + Missense_Mutation SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr20:35207182C>T uc002xfn.2 + 2 178 c.5C>T c.(4-6)TCG>TTG p.S2L C20orf24_uc002xfo.2_Missense_Mutation_p.S2L NM_021809 NP_068581 Q9GZN2 TGIF2_HUMAN TGFB-induced factor homeobox 2 2 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity pancreas(1)|skin(1) 2 Breast(12;0.114) Myeloproliferative disorder(115;0.00878) GGCACCATGTCGGACAGTGAT 0.597000 SLC32A1 140679 broad.mit.edu 37 20 37357184 37357184 + Missense_Mutation SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr20:37357184G>A uc002xjc.2 + 2 1743 c.1480G>A c.(1480-1482)GTC>ATC p.V494I NM_080552 NP_542119 Q9H598 VIAAT_HUMAN solute carrier family 32, member 1 494 Helical; (Potential). neurotransmitter secretion clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane vesicular hydrogen:amino acid antiporter activity 0 Myeloproliferative disorder(115;0.00878) Glycine(DB00145) CTTCTTCGACGTCGCCATCTT 0.647000 RBM38 55544 broad.mit.edu 37 20 55982810 55982810 + Missense_Mutation SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr20:55982810G>A uc010zzj.1 + 4 803 c.628G>A c.(628-630)GCC>ACC p.A210T RBM38_uc010zzk.1_3'UTR NM_017495 NP_059965 Q9H0Z9 RBM38_HUMAN RNA-binding region containing protein 1 isoform 210 3'-UTR-mediated mRNA stabilization|cell cycle|cell cycle arrest|cell differentiation|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 transcription of p21 class mediator|mRNA processing|negative regulation of cell proliferation|regulation of RNA splicing|RNA splicing cytosol|cytosol|nucleus|nucleus mRNA 3'-UTR binding|mRNA binding|nucleotide binding|RNA binding 0 Lung NSC(12;0.00242)|all_lung(29;0.00767)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;1.55e-12)|Epithelial(14;9.49e-09)|all cancers(14;5.01e-08) CTACCCTGCCGCCGTGCCCCA 0.697000 COL9A3 1299 broad.mit.edu 37 20 61468510 61468510 + Missense_Mutation SNP G G C TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr20:61468510G>C uc002ydm.2 + 30 1682 c.1679G>C c.(1678-1680)GGC>GCC p.G560A COL9A3_uc002ydn.2_Missense_Mutation_p.G54A NM_001853 NP_001844 Q14050 CO9A3_HUMAN alpha 3 type IX collagen precursor 560 Triple-helical region 2 (COL2). axon guidance collagen type IX 0 Breast(26;5.68e-08) GGTCCAGCTGGCCCCCCTGGG 0.672000 FBLN1 2192 broad.mit.edu 37 22 45937242 45937242 + Silent SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr22:45937242G>A uc003bgj.1 + 9 1203 c.1056G>A c.(1054-1056)ACG>ACA p.T352T FBLN1_uc003bgg.1_Silent_p.T352T|FBLN1_uc003bgh.2_Silent_p.T352T|FBLN1_uc010gzz.2_Silent_p.T390T|FBLN1_uc003bgi.1_Silent_p.T352T NM_006486 NP_006477 P23142 FBLN1_HUMAN fibulin 1 isoform D 352 EGF-like 4; calcium-binding (Potential). interspecies interaction between organisms extracellular space|soluble fraction calcium ion binding|extracellular matrix structural constituent|protein binding ovary(1)|central_nervous_system(1) 2 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) AGGAGGGAACGCGCTGTGTTG 0.527000 MIOX 55586 broad.mit.edu 37 22 50927478 50927478 + Missense_Mutation SNP G G A rs146378961 TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr22:50927478G>A uc003bll.1 + 6 532 c.418G>A c.(418-420)GTC>ATC p.V140I MIOX_uc003blm.1_Missense_Mutation_p.V140I|MIOX_uc003bln.1_Silent_p.S150S NM_017584 NP_060054 Q9UGB7 MIOX_HUMAN myo-inositol oxygenase 140 inositol catabolic process cytoplasm|inclusion body aldo-keto reductase (NADP) activity|ferric iron binding|inositol oxygenase activity 0 all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) GTGGGCTGTCGTCGGCGACAC 0.657000 TMEM40 55287 broad.mit.edu 37 3 12778267 12778267 + Silent SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr3:12778267G>A uc003bxg.1 - 9 667 c.540C>T c.(538-540)TAC>TAT p.Y180Y TMEM40_uc003bxh.1_Silent_p.Y150Y|TMEM40_uc003bxi.1_Silent_p.Y104Y|TMEM40_uc011auv.1_Silent_p.Y196Y NM_018306 NP_060776 Q8WWA1 TMM40_HUMAN transmembrane protein 40 180 Helical; (Potential). integral to membrane 0 CCTCACCTGCGTAATAGTGAT 0.592000 C3orf20 84077 broad.mit.edu 37 3 14770029 14770029 + Missense_Mutation SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr3:14770029C>T uc003byy.2 + 12 2178 c.1774C>T c.(1774-1776)CGG>TGG p.R592W C3orf20_uc003byz.2_Missense_Mutation_p.R470W|C3orf20_uc003bza.2_Missense_Mutation_p.R470W|C3orf20_uc003bzb.1_Missense_Mutation_p.R93W NM_032137 NP_115513 Q8ND61 CC020_HUMAN hypothetical protein LOC84077 592 cytoplasm|integral to membrane ovary(3)|skin(1) 4 TCATCCCGAGCGGCTCCCCAA 0.453000 ANO10 55129 broad.mit.edu 37 3 43408442 43408442 + Missense_Mutation SNP G G C TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr3:43408442G>C uc003cmv.2 - 13 2110 c.1939C>G c.(1939-1941)CTG>GTG p.L647V ANO10_uc011azs.1_3'UTR|ANO10_uc003cmw.2_Missense_Mutation_p.L581V|ANO10_uc010hil.2_Missense_Mutation_p.L457V|ANO10_uc011azt.1_Missense_Mutation_p.L536V NM_018075 NP_060545 Q9NW15 ANO10_HUMAN transmembrane protein 16K 647 Cytoplasmic (Potential). cell death chloride channel complex chloride channel activity ovary(2) 2 TCCTCCTTCAGGTTCTCGGTC 0.572000 ROBO2 6092 broad.mit.edu 37 3 77657047 77657047 + Missense_Mutation SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr3:77657047G>A uc003dpy.3 + 21 3878 c.3235G>A c.(3235-3237)GTC>ATC p.V1079I ROBO2_uc003dpz.2_Missense_Mutation_p.V1083I|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.V1083I|ROBO2_uc003dqa.2_Missense_Mutation_p.V206I NM_002942 NP_002933 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 1079 Cytoplasmic (Potential). apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1) 11 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) TCCCCCCCCAGTCCAGCCCCT 0.458000 UROC1 131669 broad.mit.edu 37 3 126224579 126224579 + Missense_Mutation SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr3:126224579C>T uc003eiz.1 - 8 810 c.778G>A c.(778-780)GCA>ACA p.A260T UROC1_uc010hsi.1_Missense_Mutation_p.A260T NM_144639 NP_653240 Q96N76 HUTU_HUMAN urocanase domain containing 1 isoform 1 260 histidine catabolic process cytosol urocanate hydratase activity ovary(1) 1 GBM - Glioblastoma multiforme(114;0.17) ACGATGACTGCGGCCTTGGCC 0.458000 DHX36 170506 broad.mit.edu 37 3 154013119 154013119 + Nonsense_Mutation SNP A A T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr3:154013119A>T uc003ezy.3 - 13 1640 c.1559T>A c.(1558-1560)TTA>TAA p.L520* DHX36_uc010hvq.2_Intron|DHX36_uc003ezz.3_Nonsense_Mutation_p.L520* NM_020865 NP_065916 Q9H2U1 DHX36_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 36 520 Nuclear localization signal.|Helicase C-terminal. cytoplasm|nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding skin(1) 1 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) AGGTATAATTAAAAATTTATC 0.299000 KCNMB2 10242 broad.mit.edu 37 3 178560469 178560469 + Missense_Mutation SNP A A T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr3:178560469A>T uc003fjd.2 + 5 795 c.452A>T c.(451-453)AAT>ATT p.N151I uc003fjb.1_Intron|uc003fjc.1_Intron|KCNMB2_uc003fje.2_Missense_Mutation_p.N151I|KCNMB2_uc003fjf.2_Missense_Mutation_p.N151I|KCNMB2_uc011bqa.1_Intron|KCNMB2_uc011bqb.1_RNA NM_181361 NP_852006 Q9Y691 KCMB2_HUMAN calcium-activated potassium channel beta 2 151 Extracellular (Potential). detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of vasoconstriction voltage-gated potassium channel complex calcium-activated potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity ovary(1) 1 all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125) OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841) TGTGGAAAAAATTTTGAAGAA 0.398000 DRD5 1816 broad.mit.edu 37 4 9783718 9783718 + Missense_Mutation SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr4:9783718C>T uc003gmb.3 + 1 461 c.65C>T c.(64-66)GCG>GTG p.A22V NM_000798 NP_000789 P21918 DRD5_HUMAN dopamine receptor D5 22 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) CAGCAGCTGGCGCAGGGGAAC 0.706000 GNPDA2 132789 broad.mit.edu 37 4 44720403 44720403 + Missense_Mutation SNP T T C TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr4:44720403T>C uc003gwy.2 - 3 306 c.149A>G c.(148-150)AAA>AGA p.K50R GNPDA2_uc010iga.2_Intron|GNPDA2_uc011bzb.1_5'UTR|GNPDA2_uc003gwz.1_Missense_Mutation_p.K50R NM_138335 NP_612208 Q8TDQ7 GNPI2_HUMAN glucosamine-6-phosphate deaminase 2 50 N-acetylglucosamine metabolic process cytoplasm glucosamine-6-phosphate deaminase activity|hydrolase activity ovary(1) 1 TATTAGTTTTTTATAGCATCC 0.244000 TRAM1L1 133022 broad.mit.edu 37 4 118005573 118005573 + Missense_Mutation SNP T T C TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr4:118005573T>C uc003ibv.3 - 1 1164 c.977A>G c.(976-978)GAT>GGT p.D326G NM_152402 NP_689615 Q8N609 TR1L1_HUMAN translocation associated membrane protein 1-like 326 Cytoplasmic (Potential).|TLC. protein transport|transmembrane transport endoplasmic reticulum membrane|integral to membrane central_nervous_system(1) 1 AATATTAGAATCTTCTACCCA 0.418000 FAT4 79633 broad.mit.edu 37 4 126240675 126240675 + Missense_Mutation SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr4:126240675G>A uc003ifj.3 + 1 3109 c.3109G>A c.(3109-3111)GAA>AAA p.E1037K NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 1037 Cadherin 10.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 CACCATTGCTGAAGGAAATAC 0.388000 MAP9 79884 broad.mit.edu 37 4 156277001 156277001 + Missense_Mutation SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr4:156277001G>A uc003ios.2 - 9 1421 c.1157C>T c.(1156-1158)TCT>TTT p.S386F MAP9_uc011cin.1_Missense_Mutation_p.S361F|MAP9_uc010iqa.1_Intron|MAP9_uc003iot.1_Missense_Mutation_p.S385F NM_001039580 NP_001034669 Q49MG5 MAP9_HUMAN aster-associated protein 386 cell division|mitosis cytoplasm|microtubule|spindle ovary(1)|central_nervous_system(1) 2 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.143) TCTCCTTTTAGAACTAGATTT 0.348000 IRX2 153572 broad.mit.edu 37 5 2748985 2748985 + Silent SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr5:2748985C>T uc003jda.2 - 3 1079 c.837G>A c.(835-837)CCG>CCA p.P279P IRX2_uc003jdb.2_Silent_p.P279P NM_001134222 NP_001127694 Q9BZI1 IRX2_HUMAN iroquois homeobox 2 279 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(1) 1 GBM - Glioblastoma multiforme(108;0.204) CGGGCTTGGGCGGCGCCAGGC 0.607000 ADAMTS16 170690 broad.mit.edu 37 5 5237162 5237162 + Missense_Mutation SNP A A C TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr5:5237162A>C uc003jdl.2 + 14 2242 c.2104A>C c.(2104-2106)ACT>CCT p.T702P ADAMTS16_uc003jdk.1_Missense_Mutation_p.T702P|ADAMTS16_uc010itk.1_Intron NM_139056 NP_620687 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 702 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1) 8 CAAAGATGGGACTCCATGCTC 0.303000 NNT 23530 broad.mit.edu 37 5 43609403 43609403 + Missense_Mutation SNP T T G TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr5:43609403T>G uc003joe.2 + 2 361 c.106T>G c.(106-108)TTT>GTT p.F36V NNT_uc003jof.2_Missense_Mutation_p.F36V NM_012343 NP_036475 Q13423 NNTM_HUMAN nicotinamide nucleotide transhydrogenase 36 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) TTTACGAACATTTTATACTCA 0.403000 ITGA1 3672 broad.mit.edu 37 5 52145263 52145263 + Silent SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr5:52145263G>A uc003jou.2 + 2 178 c.126G>A c.(124-126)CCG>CCA p.P42P ITGA1_uc003jov.2_RNA NM_181501 NP_852478 P56199 ITA1_HUMAN integrin, alpha 1 precursor 42 Extracellular (Potential).|FG-GAP 1. axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction integrin complex collagen binding|receptor activity ovary(2)|lung(1) 3 Lung NSC(810;5.05e-05)|Breast(144;0.0851) TCAGCGGCCCGGTGGAAGACA 0.358000 PDE8B 8622 broad.mit.edu 37 5 76717658 76717658 + Missense_Mutation SNP G G A rs116027371 by1000genomes TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr5:76717658G>A uc003kfa.2 + 20 2308 c.2263G>A c.(2263-2265)GAC>AAC p.D755N PDE8B_uc003kfb.2_Missense_Mutation_p.D735N|PDE8B_uc003kfc.2_Missense_Mutation_p.D700N|PDE8B_uc003kfd.2_Missense_Mutation_p.D708N|PDE8B_uc003kfe.2_Missense_Mutation_p.D658N NM_003719 NP_003710 O95263 PDE8B_HUMAN phosphodiesterase 8B isoform 1 755 Catalytic (By similarity). cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity 0 all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605) OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38) TGAAGGCAGCGACTGTGAATG 0.507000 SLCO4C1 353189 broad.mit.edu 37 5 101597686 101597686 + Silent SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr5:101597686C>T uc003knm.2 - 5 1238 c.951G>A c.(949-951)GGG>GGA p.G317G NM_180991 NP_851322 Q6ZQN7 SO4C1_HUMAN solute carrier organic anion transporter family, 317 Helical; Name=6; (Potential). cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis basolateral plasma membrane|integral to membrane sodium-independent organic anion transmembrane transporter activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1) 4 all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486) Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986) ATAGAAGAAACCCAATCCACC 0.373000 SPOCK1 6695 broad.mit.edu 37 5 136324212 136324212 + Missense_Mutation SNP T T A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr5:136324212T>A uc003lbo.2 - 7 1018 c.827A>T c.(826-828)AAG>ATG p.K276M SPOCK1_uc003lbp.2_Missense_Mutation_p.K276M NM_004598 NP_004589 Q08629 TICN1_HUMAN sparc/osteonectin, cwcv and kazal-like domains 276 cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction proteinaceous extracellular matrix calcium ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GGGCTCGTACTTATCCAGGTA 0.493000 PCDHB3 56132 broad.mit.edu 37 5 140481830 140481830 + Missense_Mutation SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr5:140481830G>A uc003lio.2 + 1 1597 c.1597G>A c.(1597-1599)GCC>ACC p.A533T uc003lin.2_5'Flank NM_018937 NP_061760 Q9Y5E6 PCDB3_HUMAN protocadherin beta 3 precursor 533 Extracellular (Potential).|Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCGCGTGGGCGCCACAGACCG 0.667000 PCDHGA8 9708 broad.mit.edu 37 5 140774731 140774731 + Missense_Mutation SNP G G T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr5:140774731G>T uc003lkd.1 + 1 3249 c.2351G>T c.(2350-2352)GGC>GTC p.G784V 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_uc003lkb.3_Missense_Mutation_p.G784V|PCDHGB5_uc011daw.1_5'Flank|PCDHGB5_uc003lkf.1_5'Flank NM_032088 NP_114477 Q9Y5G5 PCDG8_HUMAN protocadherin gamma subfamily A, 8 isoform 1 784 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGTCAGGAGGGCTGTGAGAAA 0.458000 ADRB2 154 broad.mit.edu 37 5 148206648 148206648 + Missense_Mutation SNP C C A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr5:148206648C>A uc003lpr.1 + 1 493 c.254C>A c.(253-255)GCA>GAA p.A85E SH3TC2_uc003lpp.1_Intron NM_000024 NP_000015 P07550 ADRB2_HUMAN adrenergic, beta-2-, receptor, surface 85 Helical; Name=2. activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis endosome|integral to plasma membrane|lysosome|receptor complex beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373) ATGGGCCTGGCAGTGGTGCCC 0.532000 ARSI 340075 broad.mit.edu 37 5 149677830 149677830 + Silent SNP G G T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr5:149677830G>T uc003lrv.2 - 2 1246 c.657C>A c.(655-657)ATC>ATA p.I219I NM_001012301 NP_001012301 Q5FYB1 ARSI_HUMAN arylsulfatase family, member I precursor 219 endoplasmic reticulum|extracellular region arylsulfatase activity|metal ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGCTGGCCAGGATATGGCTGG 0.632000 SOX30 11063 broad.mit.edu 37 5 157073789 157073789 + Nonsense_Mutation SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr5:157073789G>A uc003lxb.1 - 3 1585 c.1243C>T c.(1243-1245)CGA>TGA p.R415* SOX30_uc003lxc.1_Nonsense_Mutation_p.R415*|SOX30_uc011dds.1_Nonsense_Mutation_p.R110* NM_178424 NP_848511 O94993 SOX30_HUMAN SRY (sex determining region Y)-box 30 isoform a 415 regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent nucleus|nucleus sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity ovary(1)|central_nervous_system(1) 2 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) AGAGGGAATCGTTTTCGCTTC 0.368000 HIST1H3A 8350 broad.mit.edu 37 6 26021060 26021060 + Missense_Mutation SNP G G T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr6:26021060G>T uc003nfp.1 + 1 343 c.343G>T c.(343-345)GCC>TCC p.A115S HIST1H4A_uc003nfq.2_5'Flank NM_003529 NP_003520 P68431 H31_HUMAN histone cluster 1, H3a 115 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding ovary(1)|pancreas(1) 2 CGCCATCCACGCCAAGCGCGT 0.602000 BTN2A2 10385 broad.mit.edu 37 6 26388520 26388520 + Missense_Mutation SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr6:26388520C>T uc003nhq.2 + 4 808 c.722C>T c.(721-723)CCA>CTA p.P241L BTN2A2_uc011dkf.1_Missense_Mutation_p.P125L|BTN2A2_uc011dkg.1_Intron|BTN2A2_uc003nhr.2_Missense_Mutation_p.P125L|BTN2A2_uc011dkh.1_Intron|BTN2A2_uc003nhs.2_Missense_Mutation_p.P241L|BTN2A2_uc003nht.2_Missense_Mutation_p.P241L|BTN2A2_uc011dki.1_5'Flank NM_006995 NP_008926 Q8WVV5 BT2A2_HUMAN butyrophilin, subfamily 2, member A2 isoform a 241 Extracellular (Potential). negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion integral to membrane 0 ATTTTTATTCCAGGTTAGTTC 0.522000 BTN3A1 11119 broad.mit.edu 37 6 26413839 26413839 + Silent SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr6:26413839C>T uc003nhv.2 + 10 1829 c.1461C>T c.(1459-1461)GAC>GAT p.D487D BTN3A1_uc011dkj.1_3'UTR|BTN3A1_uc011dkk.1_Silent_p.D435D|BTN3A1_uc010jqj.2_3'UTR NM_007048 NP_008979 O00481 BT3A1_HUMAN butyrophilin, subfamily 3, member A1 isoform a 487 Cytoplasmic (Potential).|B30.2/SPRY. lipid metabolic process integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 CTTTCCTGGACGTCTCCTTCT 0.468000 HIST1H2BJ 8970 broad.mit.edu 37 6 27100278 27100278 + Silent SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr6:27100278G>A uc003niv.2 - 1 298 c.252C>T c.(250-252)TAC>TAT p.Y84Y HIST1H2BJ_uc003niu.1_Intron|HIST1H2AG_uc003niw.2_5'Flank NM_021058 NP_066402 P06899 H2B1J_HUMAN histone cluster 1, H2bj 84 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding 0 AGCGCTTGTTGTAATGCGCCA 0.602000 HIST1H2AL 8332 broad.mit.edu 37 6 27833333 27833333 + Silent SNP G G T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr6:27833333G>T uc003njw.2 + 1 227 c.201G>T c.(199-201)GCG>GCT p.A67A NM_003511 NP_003502 P0C0S8 H2A1_HUMAN histone cluster 1, H2al 67 nucleosome assembly nucleosome|nucleus DNA binding|enzyme binding 0 TGGAGCTGGCGGGCAACGCCG 0.667000 HLA-G 3135 broad.mit.edu 37 6 29795926 29795926 + Missense_Mutation SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr6:29795926G>A uc003nnw.2 + 3 354 c.176G>A c.(175-177)CGG>CAG p.R59Q HLA-G_uc011dmb.1_Missense_Mutation_p.R31Q|HLA-G_uc003raj.3_Missense_Mutation_p.R64Q|HLA-G_uc003nnz.3_Missense_Mutation_p.R59Q|HLA-G_uc010jrn.2_Missense_Mutation_p.R59Q|HLA-G_uc003nny.3_RNA|HLA-G_uc003ran.1_5'Flank NM_002127 NP_002118 P17693 HLAG_HUMAN major histocompatibility complex, class I, G 59 Extracellular (Potential).|Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex MHC class I receptor activity ovary(3)|central_nervous_system(1) 4 CAGTTCGTGCGGTTCGACAGC 0.682000 BAT3 7917 broad.mit.edu 37 6 31611880 31611880 + Silent SNP C C G TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr6:31611880C>G uc003nvg.3 - 12 1871 c.1557G>C c.(1555-1557)GGG>GGC p.G519G BAT3_uc003nvf.3_Silent_p.G513G|BAT3_uc003nvh.3_Silent_p.G513G|BAT3_uc003nvi.3_Silent_p.G513G|BAT3_uc011dnw.1_Silent_p.G513G|BAT3_uc011dnx.1_Silent_p.G513G NM_004639 NP_004630 P46379 BAG6_HUMAN HLA-B associated transcript-3 isoform a 519 Pro-rich.|4 X 29 AA approximate repeats. apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process BAT3 complex|nucleus polyubiquitin binding|proteasome binding|ribosome binding 0 AGACTGGGGGCCCTCCAGGAT 0.637000 CFB 629 broad.mit.edu 37 6 31914819 31914819 + Missense_Mutation SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr6:31914819G>A uc003nyj.3 + 3 612 c.334G>A c.(334-336)GGG>AGG p.G112R CFB_uc011dor.1_Missense_Mutation_p.G614R|CFB_uc011dos.1_3'UTR|CFB_uc003nyi.2_Missense_Mutation_p.G112R NM_001710 NP_001701 P00751 CFAB_HUMAN complement factor B preproprotein 112 Sushi 2. complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity skin(1) 1 CTTCGAGAACGGGGAATACTG 0.532000 TNXB 7148 broad.mit.edu 37 6 32065659 32065659 + Missense_Mutation SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr6:32065659C>T uc003nzl.2 - 2 519 c.317G>A c.(316-318)CGT>CAT p.R106H TNXB_uc010jts.1_Missense_Mutation_p.R105H|ATF6B_uc003nzm.1_3'UTR NM_019105 NP_061978 P22105 TENX_HUMAN tenascin XB isoform 1 precursor 106 actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding 0 GATCTCTAGACGGACCCTCAG 0.617000 DNAH8 1769 broad.mit.edu 37 6 38816548 38816548 + Missense_Mutation SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr6:38816548G>A uc003ooe.1 + 35 5119 c.4519G>A c.(4519-4521)GGT>AGT p.G1507S NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 CGTCTTTGTAGGTGGAGATAT 0.368000 FHL5 9457 broad.mit.edu 37 6 97052643 97052643 + Silent SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr6:97052643C>T uc003pos.1 + 4 582 c.177C>T c.(175-177)GAC>GAT p.D59D FHL5_uc003pot.1_Silent_p.D59D NM_020482 NP_065228 Q5TD97 FHL5_HUMAN activator of cAMP-responsive element modulator 59 LIM zinc-binding 1. nucleus zinc ion binding ovary(2) 2 all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204) BRCA - Breast invasive adenocarcinoma(108;0.0948) GTTACAAAGACCGGCACTGGC 0.433000 ROS1 6098 broad.mit.edu 37 6 117632202 117632202 + Missense_Mutation SNP G G A rs139881304 TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr6:117632202G>A uc003pxp.1 - 39 6413 c.6214C>T c.(6214-6216)CGG>TGG p.R2072W ROS1_uc011ebi.1_RNA NM_002944 NP_002935 P08922 ROS_HUMAN proto-oncogene c-ros-1 protein precursor 2072 Protein kinase.|Cytoplasmic (Potential). transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1) 25 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) AAATGCATCCGTTCCAAGTAG 0.383000 T GOPC|ROS1 glioblastoma|NSCLC IFNGR1 3459 broad.mit.edu 37 6 137525611 137525611 + Missense_Mutation SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr6:137525611C>T uc003qho.2 - 4 507 c.404G>A c.(403-405)AGA>AAA p.R135K IFNGR1_uc011edm.1_Missense_Mutation_p.R107K|IFNGR1_uc011edn.1_Missense_Mutation_p.R125K NM_000416 NP_000407 P15260 INGR1_HUMAN interferon gamma receptor 1 precursor 135 Extracellular (Potential). regulation of interferon-gamma-mediated signaling pathway|response to virus integral to plasma membrane interferon-gamma receptor activity upper_aerodigestive_tract(1) 1 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389) Interferon gamma-1b(DB00033) CTCCTCCTTTCTGATATCCAG 0.388000 CARD11 84433 broad.mit.edu 37 7 2962952 2962952 + Silent SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr7:2962952C>T uc003smv.2 - 16 2360 c.1956G>A c.(1954-1956)TCG>TCA p.S652S NM_032415 NP_115791 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 652 positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1) 50 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) CAGAGGTGACCGAAGGCCGGA 0.647000 Mis DLBCL DGKB 1607 broad.mit.edu 37 7 14378334 14378334 + Missense_Mutation SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr7:14378334C>T uc003ssz.2 - 22 2118 c.1931G>A c.(1930-1932)TGT>TAT p.C644Y DGKB_uc011jxt.1_Missense_Mutation_p.C625Y|DGKB_uc003sta.2_Missense_Mutation_p.C644Y|DGKB_uc011jxu.1_Missense_Mutation_p.C643Y NM_004080 NP_004071 Q9Y6T7 DGKB_HUMAN diacylglycerol kinase, beta isoform 1 644 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding lung(5)|ovary(4)|breast(2)|skin(1) 12 Phosphatidylserine(DB00144) TACTCCATCACACTGATCGGT 0.338000 AVL9 23080 broad.mit.edu 37 7 32598846 32598846 + Missense_Mutation SNP A A C TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr7:32598846A>C uc003tcv.1 + 10 1131 c.985A>C c.(985-987)AGT>CGT p.S329R AVL9_uc011kai.1_Missense_Mutation_p.S329R|AVL9_uc010kwj.1_Missense_Mutation_p.S170R NM_015060 NP_055875 Q8NBF6 AVL9_HUMAN AVL9 homolog (S. cerevisiase) 329 integral to membrane 0 TTCTTCAGAAAGTGACTGGGA 0.458000 URGCP 55665 broad.mit.edu 37 7 43918102 43918102 + Silent SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr7:43918102G>A uc003tiw.2 - 6 1017 c.960C>T c.(958-960)AGC>AGT p.S320S URGCP_uc003tiu.2_Silent_p.S277S|URGCP_uc003tiv.2_Silent_p.S245S|URGCP_uc003tix.2_Silent_p.S311S|URGCP_uc003tiy.2_Silent_p.S277S|URGCP_uc003tiz.2_Silent_p.S277S|URGCP_uc011kbj.1_Silent_p.S277S NM_001077663 NP_001071131 Q8TCY9 URGCP_HUMAN up-regulated gene 4 isoform 3 320 cell cycle centrosome|nucleus GTP binding ovary(2)|liver(1)|skin(1) 4 CCTCCCTTCCGCTGGGAAAAA 0.527000 ELN 2006 broad.mit.edu 37 7 73466278 73466278 + Missense_Mutation SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr7:73466278C>T uc003tzw.2 + 17 1005 c.914C>T c.(913-915)GCA>GTA p.A305V RFC2_uc011kfa.1_Intron|ELN_uc003tzm.1_RNA|ELN_uc011kfe.1_Missense_Mutation_p.A274V|ELN_uc003tzn.2_Missense_Mutation_p.A305V|ELN_uc003tzz.2_Missense_Mutation_p.A269V|ELN_uc003tzo.2_Missense_Mutation_p.A291V|ELN_uc003tzp.2_Missense_Mutation_p.A261V|ELN_uc003tzq.2_Missense_Mutation_p.A188V|ELN_uc003tzr.2_RNA|ELN_uc003tzs.2_Missense_Mutation_p.A305V|ELN_uc003tzt.2_Missense_Mutation_p.A310V|ELN_uc003tzu.2_Missense_Mutation_p.A310V|ELN_uc003tzv.2_Missense_Mutation_p.A295V|ELN_uc003tzx.2_Missense_Mutation_p.A295V|ELN_uc011kff.1_Missense_Mutation_p.A305V|ELN_uc003tzy.2_Missense_Mutation_p.A300V NM_000501 NP_001075224 P15502 ELN_HUMAN elastin isoform a precursor 305 Ala-rich. blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange proteinaceous extracellular matrix extracellular matrix constituent conferring elasticity|protein binding ovary(3)|pancreas(2) 5 Lung NSC(55;0.159) Rofecoxib(DB00533) GCTGCAGCTGCAGCTGCAGCA 0.647000 T PAX5 B-ALL Supravalvular Aortic Stenosis|Cutis laxa |Williams-Beuren Syndrome OREG0018112 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) CLIP2 7461 broad.mit.edu 37 7 73753054 73753054 + Missense_Mutation SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr7:73753054C>T uc003uam.2 + 3 725 c.398C>T c.(397-399)CCG>CTG p.P133L CLIP2_uc003uan.2_Missense_Mutation_p.P133L NM_003388 NP_003379 Q9UDT6 CLIP2_HUMAN CAP-GLY domain containing linker protein 2 133 CAP-Gly 1. microtubule associated complex skin(3) 3 TTCGAGTGCCCGGCCCTCCAG 0.706000 GNAT3 346562 broad.mit.edu 37 7 80108223 80108223 + Missense_Mutation SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr7:80108223C>T uc011kgu.1 - 4 395 c.395G>A c.(394-396)AGA>AAA p.R132K CD36_uc003uhc.2_Intron NM_001102386 NP_001095856 A8MTJ3 GNAT3_HUMAN guanine nucleotide binding protein, alpha 132 detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity ovary(1) 1 TCCTGGATCTCTCCACAGCCG 0.453000 HGF 3082 broad.mit.edu 37 7 81346652 81346652 + Missense_Mutation SNP T T A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr7:81346652T>A uc003uhl.2 - 11 1466 c.1301A>T c.(1300-1302)AAG>ATG p.K434M HGF_uc003uhm.2_Missense_Mutation_p.K429M NM_000601 NP_000592 P14210 HGF_HUMAN hepatocyte growth factor isoform 1 434 Kringle 4. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity ovary(2)|central_nervous_system(2) 4 CTCATTCAGCTTACTTGCATC 0.428000 RUNDC3B 154661 broad.mit.edu 37 7 87329803 87329803 + Missense_Mutation SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr7:87329803G>A uc003ujb.2 + 4 767 c.356G>A c.(355-357)CGG>CAG p.R119Q ABCB1_uc003uiz.1_Intron|ABCB1_uc003uja.1_Intron|ABCB1_uc010lei.1_Intron|RUNDC3B_uc011khd.1_Missense_Mutation_p.R102Q|RUNDC3B_uc011khe.1_Missense_Mutation_p.R102Q|RUNDC3B_uc003ujc.2_Missense_Mutation_p.R102Q|RUNDC3B_uc003ujd.2_Missense_Mutation_p.R24Q NM_138290 NP_612147 Q96NL0 RUN3B_HUMAN RUN domain containing 3B isoform a 119 RUN. skin(1) 1 Esophageal squamous(14;0.00164) GTGGCTTGCCGGAAAGTTTCA 0.378000 SAMD9L 219285 broad.mit.edu 37 7 92760776 92760776 + Silent SNP T T A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr7:92760776T>A uc003umh.1 - 5 5725 c.4509A>T c.(4507-4509)ACA>ACT p.T1503T SAMD9L_uc003umj.1_Silent_p.T1503T|SAMD9L_uc003umi.1_Silent_p.T1503T|SAMD9L_uc010lfb.1_Silent_p.T1503T|SAMD9L_uc003umk.1_Silent_p.T1503T|SAMD9L_uc010lfc.1_Silent_p.T1503T|SAMD9L_uc010lfd.1_Silent_p.T1503T|SAMD9L_uc011khx.1_3'UTR NM_152703 NP_689916 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 1503 ovary(4) 4 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) AGAGGGAATTTGTATTTTGTG 0.438000 PPP1R3A 5506 broad.mit.edu 37 7 113522369 113522369 + Missense_Mutation SNP T T G TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr7:113522369T>G uc010ljy.1 - 2 820 c.789A>C c.(787-789)GAA>GAC p.E263D NM_002711 NP_002702 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory (inhibitor) 263 glycogen metabolic process integral to membrane lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1) 34 CTGATGATTCTTCTTTACTGT 0.279000 PTN 5764 broad.mit.edu 37 7 136938369 136938369 + Missense_Mutation SNP T T G TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr7:136938369T>G uc003vtq.2 - 3 494 c.131A>C c.(130-132)AAG>ACG p.K44T PTN_uc010lmx.2_Missense_Mutation_p.K44T|PTN_uc003vtr.1_Missense_Mutation_p.K44T NM_002825 NP_002816 P21246 PTN_HUMAN pleiotrophin 44 nervous system development|positive regulation of cell division|positive regulation of cell proliferation|transmembrane receptor protein tyrosine phosphatase signaling pathway endoplasmic reticulum|extracellular space growth factor activity|heparin binding|protein phosphatase inhibitor activity upper_aerodigestive_tract(1)|pancreas(1) 2 ACAGTCAGACTTCTTCACTTT 0.453000 TAS2R4 50832 broad.mit.edu 37 7 141478666 141478666 + Silent SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr7:141478666C>T uc003vwq.1 + 1 378 c.378C>T c.(376-378)TCC>TCT p.S126S NM_016944 NP_058640 Q9NYW5 TA2R4_HUMAN taste receptor T2R4 126 Cytoplasmic (Potential). sensory perception of taste cilium membrane taste receptor activity 0 Melanoma(164;0.0171) BRCA - Breast invasive adenocarcinoma(188;0.196) GGAATATCTCCCCAAAGATCC 0.488000 SSPO 23145 broad.mit.edu 37 7 149485454 149485454 + Missense_Mutation SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr7:149485454C>T uc010lpk.2 + 27 3860 c.3860C>T c.(3859-3861)ACG>ATG p.T1287M NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 1287 TIL 3. cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) TGTGGCCCCACGTGTCCCCCC 0.642000 DPP6 1804 broad.mit.edu 37 7 154585896 154585896 + Missense_Mutation SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr7:154585896C>T uc003wlk.2 + 11 1373 c.1244C>T c.(1243-1245)ACG>ATG p.T415M DPP6_uc003wli.2_Missense_Mutation_p.T351M|DPP6_uc003wlm.2_Missense_Mutation_p.T353M|DPP6_uc011kvq.1_Missense_Mutation_p.T308M NM_130797 NP_570629 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 isoform 1 415 Extracellular (Potential). cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity pancreas(3)|breast(1) 4 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) GACGCCACCACGGGGGTCTGC 0.662000 RNF32 140545 broad.mit.edu 37 7 156468398 156468398 + Missense_Mutation SNP A A C TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr7:156468398A>C uc003wmo.2 + 8 875 c.693A>C c.(691-693)GAA>GAC p.E231D RNF32_uc010lqm.2_Missense_Mutation_p.E231D|RNF32_uc003wmq.2_Missense_Mutation_p.E231D|RNF32_uc003wmr.2_Missense_Mutation_p.E231D|RNF32_uc003wmu.2_RNA NM_030936 NP_112198 Q9H0A6 RNF32_HUMAN ring finger protein 32 231 aggresome|endosome protein binding|zinc ion binding 0 Ovarian(565;0.218) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.00291) UCEC - Uterine corpus endometrioid carcinoma (81;0.169) AGTTCACAGAAATCAGCCACC 0.522000 TNKS 8658 broad.mit.edu 37 8 9622234 9622234 + Silent SNP T T C TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr8:9622234T>C uc003wss.2 + 23 3386 c.3381T>C c.(3379-3381)AGT>AGC p.S1127S TNKS_uc011kww.1_Silent_p.S890S NM_003747 NP_003738 O95271 TNKS1_HUMAN tankyrase, TRF1-interacting ankyrin-related 1127 PARP catalytic. mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding lung(4)|ovary(2)|kidney(1) 7 COAD - Colon adenocarcinoma(149;0.0467) AGATGCAAAGTACTATTCGAG 0.318000 XPO7 23039 broad.mit.edu 37 8 21837641 21837641 + Missense_Mutation SNP T T G TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr8:21837641T>G uc003xaa.3 + 9 986 c.884T>G c.(883-885)TTT>TGT p.F295C XPO7_uc010lti.2_Missense_Mutation_p.F304C|XPO7_uc010ltk.2_Missense_Mutation_p.F296C NM_015024 NP_055839 Q9UIA9 XPO7_HUMAN exportin 7 isoform b 295 Missing (in Ref. 3; BAA34465). mRNA transport|protein export from nucleus|transmembrane transport cytoplasm|nuclear pore nuclear export signal receptor activity|protein transporter activity ovary(1)|kidney(1)|breast(1)|central_nervous_system(1)|pancreas(1) 5 Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724) AGATCCCTGTTTAACAATGCA 0.398000 NUDT18 79873 broad.mit.edu 37 8 21965689 21965689 + Missense_Mutation SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr8:21965689G>A uc003xaq.1 - 5 450 c.331C>T c.(331-333)CGG>TGG p.R111W NUDT18_uc003xar.1_3'UTR NM_024815 NP_079091 Q6ZVK8 NUD18_HUMAN nudix (nucleoside diphosphate linked moiety 111 Nudix hydrolase. hydrolase activity|metal ion binding|protein binding 0 Colorectal(74;0.00185)|COAD - Colon adenocarcinoma(73;0.0608)|READ - Rectum adenocarcinoma(5;0.0986) GAGGGGCCCCGCTCCTCCACG 0.672000 POLR3D 661 broad.mit.edu 37 8 22105684 22105684 + Missense_Mutation SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr8:22105684G>A uc003xbl.2 + 5 462 c.379G>A c.(379-381)GTG>ATG p.V127M POLR3D_uc003xbm.2_Missense_Mutation_p.V127M|POLR3D_uc011kze.1_Intron NM_001722 NP_001713 P05423 RPC4_HUMAN polymerase (RNA) III (DNA directed) polypeptide 127 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity 0 Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061) GGATAAGACAGTGGATGTGTC 0.453000 NEFM 4741 broad.mit.edu 37 8 24772237 24772237 + Missense_Mutation SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr8:24772237C>T uc003xed.3 + 1 964 c.931C>T c.(931-933)CGC>TGC p.R311C NEFM_uc011lac.1_Missense_Mutation_p.R311C|NEFM_uc010lue.2_5'Flank|uc010luc.1_5'Flank NM_005382 NP_005373 P07197 NFM_HUMAN neurofilament, medium polypeptide 150kDa isoform 311 Rod.|Coil 2B. 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) GGAGGCCATCCGCTCCGCCAA 0.627000 GGH 8836 broad.mit.edu 37 8 63942754 63942754 + Missense_Mutation SNP A A T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr8:63942754A>T uc003xuw.2 - 3 530 c.247T>A c.(247-249)TAT>AAT p.Y83N NM_003878 NP_003869 Q92820 GGH_HUMAN gamma-glutamyl hydrolase precursor 83 Gamma-glutamyl hydrolase. glutamine metabolic process extracellular space|lysosome|melanosome gamma-glutamyl-peptidase activity 0 Breast(64;0.0716) all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131) Folic Acid(DB00158)|L-Glutamic Acid(DB00142) AGTATTTCATAGTCTTTCTCT 0.313000 TTPA 7274 broad.mit.edu 37 8 63978606 63978606 + Silent SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr8:63978606G>A uc003xux.1 - 3 441 c.409C>T c.(409-411)CTA>TTA p.L137L NM_000370 NP_000361 P49638 TTPA_HUMAN tocopherol (alpha) transfer protein 137 CRAL-TRIO. lipid metabolic process transporter activity|vitamin E binding 0 Breast(64;0.0716) all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123) Vitamin E(DB00163) GATGTGATTAGACTTACTCGA 0.373000 C8orf34 116328 broad.mit.edu 37 8 69728144 69728144 + Missense_Mutation SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr8:69728144G>A uc010lyz.2 + 13 1364 c.1315G>A c.(1315-1317)GTT>ATT p.V439I C8orf34_uc003xyb.2_Missense_Mutation_p.V414I NM_052958 NP_443190 Q49A92 CH034_HUMAN hypothetical protein LOC116328 439 signal transduction cAMP-dependent protein kinase regulator activity large_intestine(1) 1 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) TCTTCTTTGCGTTCCATGCTC 0.448000 GDAP1 54332 broad.mit.edu 37 8 75263617 75263617 + Nonsense_Mutation SNP G G T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr8:75263617G>T uc003yah.2 + 2 305 c.226G>T c.(226-228)GAA>TAA p.E76* GDAP1_uc011lfj.1_Intron|GDAP1_uc003yai.2_Nonsense_Mutation_p.E8* NM_018972 NP_061845 Q8TB36 GDAP1_HUMAN ganglioside-induced differentiation-associated 76 GST N-terminal. cytoplasm 0 Breast(64;0.00769) Myeloproliferative disorder(644;0.0122) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234) CTCAACTGGAGAAGTGCCTGT 0.438000 ZFHX4 79776 broad.mit.edu 37 8 77763887 77763887 + Missense_Mutation SNP C C A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr8:77763887C>A uc003yav.2 + 10 4982 c.4595C>A c.(4594-4596)TCC>TAC p.S1532Y ZFHX4_uc003yau.1_Missense_Mutation_p.S1577Y|ZFHX4_uc003yaw.1_Missense_Mutation_p.S1532Y NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 1532 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) CAGGAAGCCTCCAGTCCTGTC 0.418000 HNSCC(33;0.089) GDF6 392255 broad.mit.edu 37 8 97156922 97156922 + Missense_Mutation SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr8:97156922C>T uc003yhp.2 - 2 1337 c.1237G>A c.(1237-1239)GGC>AGC p.G413S NM_001001557 NP_001001557 Q6KF10 GDF6_HUMAN growth differentiation factor 6 precursor 413 activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity ovary(1)|breast(1)|pancreas(1) 3 Breast(36;2.67e-05) GGGGTGGAGCCGGGGTCCATG 0.597000 SPAG1 6674 broad.mit.edu 37 8 101195650 101195650 + Silent SNP C C T rs74597335 by1000genomes TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr8:101195650C>T uc003yjh.1 + 5 560 c.474C>T c.(472-474)TAC>TAT p.Y158Y SPAG1_uc003yjg.1_Silent_p.Y158Y|SPAG1_uc003yji.1_Silent_p.Y158Y NM_172218 NP_757367 Q07617 SPAG1_HUMAN sperm associated antigen 1 158 single fertilization cytoplasm GTP binding|hydrolase activity ovary(2)|central_nervous_system(1) 3 all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823) Breast(495;0.195) Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525) KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236) CAAGGGATTACGCGGAATGGG 0.239000 CSMD3 114788 broad.mit.edu 37 8 113353899 113353899 + Silent SNP A A G TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr8:113353899A>G uc003ynu.2 - 42 6618 c.6459T>C c.(6457-6459)TTT>TTC p.F2153F CSMD3_uc003yns.2_Silent_p.F1355F|CSMD3_uc003ynt.2_Silent_p.F2113F|CSMD3_uc011lhx.1_Silent_p.F2049F NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2153 Extracellular (Potential).|CUB 12. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 AAAAATTTACAAACTGGAGAT 0.348000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) MPDZ 8777 broad.mit.edu 37 9 13119520 13119520 + Missense_Mutation SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr9:13119520G>A uc010mia.1 - 38 5417 c.5360C>T c.(5359-5361)GCG>GTG p.A1787V MPDZ_uc003zkx.3_Missense_Mutation_p.A52V|MPDZ_uc003zky.3_Missense_Mutation_p.A321V|MPDZ_uc010mib.2_Missense_Mutation_p.A492V|MPDZ_uc010mhx.2_Missense_Mutation_p.A609V|MPDZ_uc011lmm.1_Missense_Mutation_p.A646V|MPDZ_uc003zkz.3_Missense_Mutation_p.A480V|MPDZ_uc010mhy.2_Missense_Mutation_p.A1787V|MPDZ_uc010mhz.2_Missense_Mutation_p.A1754V|MPDZ_uc011lmn.1_Missense_Mutation_p.A1754V|MPDZ_uc003zlb.3_Missense_Mutation_p.A1787V NM_003829 NP_003820 O75970 MPDZ_HUMAN multiple PDZ domain protein 1787 PDZ 11. interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding ovary(5)|central_nervous_system(1) 6 GBM - Glioblastoma multiforme(50;2.03e-06) AGCGGCAACCGCTTCTTGGGT 0.388000 CEP78 84131 broad.mit.edu 37 9 80851395 80851395 + Silent SNP G G A TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr9:80851395G>A uc004akx.2 + 1 405 c.129G>A c.(127-129)CTG>CTA p.L43L CEP78_uc004aky.3_Silent_p.L43L|CEP78_uc010mpp.2_Silent_p.L43L|CEP78_uc011lsp.1_5'UTR NM_032171 NP_115547 Q5JTW2 CEP78_HUMAN centrosomal protein 78kDa isoform b 43 G2/M transition of mitotic cell cycle centrosome|cytosol ovary(1) 1 AGGGCGTGCTGGATTTCAACG 0.647000 FOXE1 2304 broad.mit.edu 37 9 100616626 100616626 + Missense_Mutation SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr9:100616626C>T uc004axu.2 + 1 1090 c.430C>T c.(430-432)CGC>TGC p.R144C NM_004473 NP_004464 O00358 FOXE1_HUMAN forkhead box E1 144 Fork-head. cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation transcription factor complex DNA bending activity|double-stranded DNA binding|promoter 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 Acute lymphoblastic leukemia(62;0.158) CAGCTTCCTGCGCCGCCGCAA 0.562000 TGFBR1 7046 broad.mit.edu 37 9 101907101 101907101 + Missense_Mutation SNP T T C TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr9:101907101T>C uc004azc.2 + 6 1137 c.1061T>C c.(1060-1062)CTG>CCG p.L354P TGFBR1_uc004azd.2_Missense_Mutation_p.L277P|TGFBR1_uc011lvc.1_Missense_Mutation_p.L285P NM_004612 NP_004603 P36897 TGFR1_HUMAN transforming growth factor, beta receptor I 354 Protein kinase.|Cytoplasmic (Potential). activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding lung(2)|ovary(1) 3 Acute lymphoblastic leukemia(62;0.0559) GACTTAGGACTGGCAGTAAGA 0.358000 TLR4 7099 broad.mit.edu 37 9 120475713 120475713 + Missense_Mutation SNP A A G TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr9:120475713A>G uc004bjz.2 + 3 1598 c.1307A>G c.(1306-1308)CAA>CGA p.Q436R TLR4_uc004bka.2_Missense_Mutation_p.Q396R|TLR4_uc004bkb.2_Missense_Mutation_p.Q236R NM_138554 NP_612564 O00206 TLR4_HUMAN toll-like receptor 4 precursor 436 LRR 13.|Extracellular (Potential). activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|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 platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity lung(10)|ovary(4)|breast(1)|skin(1) 16 AATTTGAAACAAATGAGTGAG 0.373000 MXRA5 25878 broad.mit.edu 37 X 3235214 3235214 + Missense_Mutation SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chrX:3235214C>T uc004crg.3 - 6 6665 c.6508G>A c.(6508-6510)GCC>ACC p.A2170T NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN adlican precursor 2170 Ig-like C2-type 6. extracellular region ovary(5)|lung(1)|central_nervous_system(1)|skin(1) 8 all_lung(23;0.00031)|Lung NSC(23;0.000946) TCCCCCGAGGCGCTGCAGTCC 0.662000 NLGN4X 57502 broad.mit.edu 37 X 5821835 5821835 + Missense_Mutation SNP T T G TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chrX:5821835T>G uc010ndh.2 - 5 1385 c.884A>C c.(883-885)AAG>ACG p.K295T NLGN4X_uc004crp.2_Missense_Mutation_p.K315T|NLGN4X_uc004crq.2_Missense_Mutation_p.K295T|NLGN4X_uc010ndi.2_Missense_Mutation_p.K332T|NLGN4X_uc004crr.2_Missense_Mutation_p.K295T|NLGN4X_uc010ndj.2_Missense_Mutation_p.K295T NM_181332 NP_851849 Q8N0W4 NLGNX_HUMAN X-linked neuroligin 4 precursor 295 Extracellular (Potential). brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity skin(2)|large_intestine(1)|ovary(1) 4 CCGAGTGTACTTGGCCGGCTG 0.552000 WNK3 65267 broad.mit.edu 37 X 54328235 54328235 + Missense_Mutation SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chrX:54328235C>T uc004dtd.1 - 6 1586 c.1147G>A c.(1147-1149)GAA>AAA p.E383K WNK3_uc004dtc.1_Missense_Mutation_p.E383K NM_001002838 NP_001002838 Q9BYP7 WNK3_HUMAN WNK lysine deficient protein kinase 3 isoform 2 383 Protein kinase. intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity lung(4)|ovary(3)|kidney(2)|central_nervous_system(2) 11 ATACATCCTTCAATGATTTCT 0.358000 PHKA1 5255 broad.mit.edu 37 X 71864212 71864212 + Missense_Mutation SNP C C T TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chrX:71864212C>T uc004eax.3 - 14 1760 c.1459G>A c.(1459-1461)GGA>AGA p.G487R PHKA1_uc004eay.3_Missense_Mutation_p.G487R|PHKA1_uc011mqi.1_Missense_Mutation_p.G487R NM_002637 NP_002628 P46020 KPB1_HUMAN phosphorylase kinase, alpha 1 (muscle) isoform 487 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity ovary(3)|skin(1) 4 Renal(35;0.156) ATCTCCTTACCTAGGCTGGAA 0.408000 FGF13 2258 broad.mit.edu 37 X 137717619 137717619 + Silent SNP T T C TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chrX:137717619T>C uc004fam.2 - 4 1262 c.600A>G c.(598-600)AAA>AAG p.K200K FGF13_uc004fan.2_Silent_p.K147K|FGF13_uc011mwi.1_Silent_p.K181K|FGF13_uc004faq.2_Silent_p.K210K|FGF13_uc004far.2_Silent_p.K181K|FGF13_uc011mwj.1_Silent_p.K210K|FGF13_uc011mwk.1_Silent_p.K154K NM_004114 NP_004105 Q92913 FGF13_HUMAN fibroblast growth factor 13 isoform 1 200 cell-cell signaling|MAPKKK cascade|nervous system development cytoplasm|nucleus growth factor activity|protein kinase activator activity ovary(1)|large_intestine(1)|breast(1) 3 Acute lymphoblastic leukemia(192;0.000127) CAAATGTACCTTTCAGTGGTT 0.303000 FMR1 2332 broad.mit.edu 37 X 147011748 147011748 + Silent SNP T T G TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chrX:147011748T>G uc010nst.2 + 7 804 c.615T>G c.(613-615)GCT>GCG p.A205A FMR1_uc011mwz.1_Silent_p.A205A|FMR1_uc004fcj.2_Silent_p.A205A|FMR1_uc004fck.3_Silent_p.A205A|FMR1_uc004fcl.3_Silent_p.A66A|FMR1_uc011mxa.1_5'UTR NM_002024 NP_002015 Q06787 FMR1_HUMAN fragile X mental retardation 1 205 mRNA transport|negative regulation of translational initiation cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction mRNA binding|protein binding ovary(2)|pancreas(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) ATGAAGAAGCTAGTAAGCAGC 0.443000 Fragile_X_syndrome ARHGAP5 394 broad.mit.edu 37 14 32561145 32561149 + Frame_Shift_Del DEL GAGAA GAGAA - TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr14:32561145_32561149delGAGAA uc001wrl.2 + 2 1509_1513 c.1270_1274delGAGAA c.(1270-1275)GAGAAGfs p.E424fs ARHGAP5_uc001wrm.2_Frame_Shift_Del_p.E424fs|ARHGAP5_uc001wrn.2_Frame_Shift_Del_p.E424fs|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron NM_001173 NP_001025226 Q13017 RHG05_HUMAN Rho GTPase activating protein 5 isoform b 424_425 cell adhesion|Rho protein signal transduction cytosol|membrane GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding ovary(4)|central_nervous_system(1) 5 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) TCTGATATCCGAGAAGAGGAGGGTG 0.390 TP53 7157 broad.mit.edu 37 17 7579381 7579381 + Frame_Shift_Del DEL G G - TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr17:7579381delG uc002gim.2 - 4 500 c.306delC c.(304-306)ACCfs p.T102fs TP53_uc002gig.1_Frame_Shift_Del_p.T102fs|TP53_uc002gih.2_Frame_Shift_Del_p.T102fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Frame_Shift_Del_p.T102fs|TP53_uc010cni.1_Frame_Shift_Del_p.T102fs|TP53_uc002gij.2_Frame_Shift_Del_p.T102fs|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Frame_Shift_Del_p.T63fs|TP53_uc010cnk.1_Frame_Shift_Del_p.T117fs NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 102 Interaction with HIPK1 (By similarity).||Interaction with WWOX. T -> I (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.T102I(7)|p.T102fs*21(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.W91fs*13(1)|p.P13fs*18(1)|p.S33fs*23(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) TGCCCTGGTAGGTTTTCTGGG 0.637 111 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) SVEP1 79987 broad.mit.edu 37 9 113194198 113194199 + Frame_Shift_Del DEL CA CA - TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr9:113194198_113194199delCA uc010mtz.2 - 32 5686_5687 c.5349_5350delTG c.(5347-5352)TGTGCAfs p.C1783fs SVEP1_uc010mty.2_5'Flank NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN polydom 1783_1784 EGF-like 7; calcium-binding (Potential). cell adhesion cytoplasm|extracellular region|membrane calcium ion binding ovary(7) 7 TGGTTACCTGCACAGTTTTTCC 0.361 PIK3R3 8503 broad.mit.edu 37 1 46509408 46509410 + In_Frame_Del DEL GTT GTT - TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr1:46509407_46509409CGTT>C uc010olw.2 - 9 1477_1479 c.1460_1462AACG>G c.(1459-1464)aacgac>aGac p.487_488ND>R PIK3R3_uc001cpb.4_In_Frame_Del_p.441_442ND>R|PIK3R3_uc009vyb.3_In_Frame_Del_p.382_383ND>R|PIK3R3_uc009vyc.3_In_Frame_Del_p.458_459ND>R|PIK3R3_uc001cpc.4_In_Frame_Del_p.441_442ND>R|PIK3R3_uc010olv.2_In_Frame_Del_p.231_232ND>R NM_003629 NP_003620 Q92569 P55G_HUMAN Homo sapiens phosphoinositide-3-kinase, regulatory subunit 3 (gamma) (PIK3R3), transcript variant 1, mRNA. 441 T cell costimulation|insulin receptor signaling pathway|platelet activation 1-phosphatidylinositol-3-kinase activity|protein binding endometrium(1)|large_intestine(5)|lung(6)|prostate(2) 14 Acute lymphoblastic leukemia(166;0.155) TTGAGGGAGTCGTTGTGCTGAAC 0.527 PTGER4 5734 broad.mit.edu 37 5 40692448 40692465 + In_Frame_Del DEL GAAACACTGAACTTATCA GAAACACTGAACTTATCA - TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr5:40692447_40692464TGAAACACTGAACTTATCA>T uc003jlz.3 + 2 2026_2043 c.1434_1451TGAAACACTGAACTTATCA>T c.(1432-1452)agtgaaacactgaacttatca>agTa p.478_484SETLNLS>S NM_000958 NP_000949 P35408 PE2R4_HUMAN Homo sapiens prostaglandin E receptor 4 (subtype EP4) (PTGER4), mRNA. 478 G-protein signaling, coupled to cAMP nucleotide second messenger|immune response integral to membrane|plasma membrane prostaglandin E receptor activity breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 CATTTCCCAGTGAAACACTGAACTTATCAGAAAAATGT 0.468 REV3L 5980 broad.mit.edu 37 6 111693904 111693905 + Frame_Shift_Ins INS - - G TCGA-BR-8679-01A-11D-2394-08 TCGA-BR-8679-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc 2505360b-a523-4f55-adc3-50439aec8beb g.chr6:111693903_111693904T>TG uc003puy.4 - 12 5995_5996 c.5654_5655A>CA c.(5653-5655)ccafs p.P1885fs REV3L_uc003pux.4_Frame_Shift_Ins_p.P1807fs|REV3L_uc003puz.4_Frame_Shift_Ins_p.P1807fs NM_002912 NP_002903 O60673 DPOLZ_HUMAN Homo sapiens REV3-like, catalytic subunit of DNA polymerase zeta (yeast) (REV3L), mRNA. 1885 Mediates interaction with MAD2L2. DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 88 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) CTTCCCTACTTGGGGGGGACAT 0.431 DNA polymerases (catalytic subunits)