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 TTC4 7268 broad.mit.edu 37 1 55186864 55186864 + Silent SNP G G A TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e g.chr1:55186864G>A uc001cxx.3 + 4 473 c.420G>A c.(418-420)GTG>GTA p.V140V C1orf175_uc001cxq.2_RNA|TTC4_uc001cxw.3_Silent_p.V140V|TTC4_uc001cxv.2_Silent_p.V151V NM_004623 NP_004614 O95801 TTC4_HUMAN tetratricopeptide repeat domain 4 140 TPR 2. binding 0 TCAATGATGTGACAGCTGCCA 0.343000 TLR5 7100 broad.mit.edu 37 1 223285764 223285764 + Missense_Mutation SNP C C A TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e g.chr1:223285764C>A uc001hnv.1 - 4 1056 c.610G>T c.(610-612)GCA>TCA p.A204S TLR5_uc001hnw.1_Missense_Mutation_p.A204S NM_003268 NP_003259 O60602 TLR5_HUMAN toll-like receptor 5 precursor 204 Extracellular (Potential). cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway integral to membrane|plasma membrane interleukin-1 receptor binding|transmembrane receptor activity ovary(2)|lung(1)|skin(1) 4 GBM - Glioblastoma multiforme(131;0.0851) CTATTAGCTGCGAGGCTAAAA 0.428000 OBSCN 84033 broad.mit.edu 37 1 228481244 228481244 + Silent SNP C C T TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e g.chr1:228481244C>T uc009xez.1 + 41 11102 c.11058C>T c.(11056-11058)CTC>CTT p.L3686L OBSCN_uc001hsn.2_Silent_p.L3686L|OBSCN_uc001hsq.1_Silent_p.L942L NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 3686 Ig-like 37. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) TCCGCGGCCTCGTGGCAGAGG 0.642000 MTR 4548 broad.mit.edu 37 1 237026774 237026774 + Silent SNP C C T TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e g.chr1:237026774C>T uc001hyi.3 + 22 2748 c.2325C>T c.(2323-2325)ATC>ATT p.I775I MTR_uc010pxw.1_Silent_p.I368I|MTR_uc010pxx.1_Silent_p.I724I|MTR_uc010pxy.1_Silent_p.I629I NM_000254 NP_000245 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine 775 B12-binding. nervous system development|xenobiotic metabolic process cytosol cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117) OV - Ovarian serous cystadenocarcinoma(106;0.0106) KIRC - Kidney renal clear cell carcinoma(1967;0.248) Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116) AGGGCACCATCGTGCTGGCCA 0.547000 GAD2 2572 broad.mit.edu 37 10 26581413 26581413 + Missense_Mutation SNP C C T TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e g.chr10:26581413C>T uc001isp.2 + 14 1909 c.1406C>T c.(1405-1407)GCG>GTG p.A469V GAD2_uc001isq.2_Missense_Mutation_p.A469V NM_001134366 NP_001127838 Q05329 DCE2_HUMAN glutamate decarboxylase 2 469 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding central_nervous_system(1)|skin(1) 2 L-Glutamic Acid(DB00142) GGGTTTGAAGCGCATGTTGAT 0.448000 PTCHD3 374308 broad.mit.edu 37 10 27688039 27688039 + Silent SNP A A T TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e g.chr10:27688039A>T uc001itu.2 - 4 1606 c.1488T>A c.(1486-1488)ACT>ACA p.T496T NM_001034842 NP_001030014 Q3KNS1 PTHD3_HUMAN patched domain containing 3 496 SSD.|Helical; (Potential). spermatid development integral to membrane hedgehog receptor activity ovary(2)|pancreas(1)|skin(1) 4 CCAGGATGTTAGTGATGGTGG 0.398000 CHAT 1103 broad.mit.edu 37 10 50835788 50835788 + Silent SNP C C T TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e g.chr10:50835788C>T uc001jhz.2 + 7 1221 c.1068C>T c.(1066-1068)GAC>GAT p.D356D CHAT_uc001jhv.1_Silent_p.D238D|CHAT_uc001jhx.1_Silent_p.D238D|CHAT_uc001jhy.1_Silent_p.D238D|CHAT_uc001jia.2_Silent_p.D238D|CHAT_uc010qgs.1_Silent_p.D238D NM_020549 NP_065574 P28329 CLAT_HUMAN choline acetyltransferase isoform 2 356 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity central_nervous_system(3) 3 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) TGACGTCTGACGGGAGGAGCG 0.582000 RRP12 23223 broad.mit.edu 37 10 99141471 99141471 + Splice_Site SNP C C G TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e g.chr10:99141471C>G uc001knf.2 - 11 1459 c.1320_splice c.e11+1 p.K440_splice RRP12_uc009xvm.2_Splice_Site_p.K158_splice|RRP12_uc010qou.1_Splice_Site_p.K379_splice|RRP12_uc009xvn.2_Splice_Site_p.K340_splice NM_015179 NP_055994 Q5JTH9 RRP12_HUMAN ribosomal RNA processing 12 homolog isoform 1 integral to membrane|nuclear membrane|nucleolus protein binding ovary(2)|central_nervous_system(1) 3 Colorectal(252;0.162) Epithelial(162;2.72e-09)|all cancers(201;1.76e-07) AGTTGCAGTACCTTGAGGCTC 0.607000 MRGPRX4 117196 broad.mit.edu 37 11 18194966 18194966 + Missense_Mutation SNP C C T TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e g.chr11:18194966C>T uc001mnv.1 + 1 583 c.163C>T c.(163-165)CGC>TGC p.R55C NM_054032 NP_473373 Q96LA9 MRGX4_HUMAN MAS-related GPR, member X4 55 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity skin(1) 1 CCTGGGCTACCGCATGCGCAG 0.547000 DCDC1 341019 broad.mit.edu 37 11 31327931 31327931 + Missense_Mutation SNP C C A TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e g.chr11:31327931C>A uc001msv.2 - 5 641 c.439G>T c.(439-441)GCA>TCA p.A147S DCDC1_uc001msu.1_5'UTR NM_181807 NP_861523 P59894 DCDC1_HUMAN doublecortin domain containing 1 147 intracellular signal transduction skin(1) 1 Lung SC(675;0.225) GAGAACTCTGCAACCCTGAAG 0.318000 RIN1 9610 broad.mit.edu 37 11 66099763 66099763 + Missense_Mutation SNP C C T TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e g.chr11:66099763C>T uc001ohn.1 - 10 2463 c.2336G>A c.(2335-2337)CGG>CAG p.R779Q RIN1_uc010roy.1_Missense_Mutation_p.R410Q|RIN1_uc009yrd.1_Missense_Mutation_p.R472Q|RIN1_uc010roz.1_Missense_Mutation_p.R674Q|RIN1_uc010rpa.1_Missense_Mutation_p.R613Q NM_004292 NP_004283 Q13671 RIN1_HUMAN ras inhibitor RIN1 779 endocytosis|signal transduction cytoplasm|cytoskeleton|plasma membrane GTPase activator activity|protein binding lung(2)|breast(1) 3 CTCTGCTGCCCGGCTTCCCTC 0.622000 DLG2 1740 broad.mit.edu 37 11 84634228 84634228 + Translation_Start_Site SNP C C T TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e g.chr11:84634228C>T uc001paj.2 - 1 238 c.-65G>A c.(-67--63)TCGTG>TCATG DLG2_uc010rsz.1_Translation_Start_Site|DLG2_uc010rta.1_Translation_Start_Site|DLG2_uc001pak.2_Intron|DLG2_uc001pal.1_Translation_Start_Site NM_001364 NP_001355 Q15700 DLG2_HUMAN chapsyn-110 isoform 2 cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding|protein binding ovary(3)|pancreas(2)|skin(1) 6 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) CCCACACACACGATCCTGGGC 0.458000 CLDN25 644672 broad.mit.edu 37 11 113650730 113650730 + Missense_Mutation SNP G G T TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e g.chr11:113650730G>T uc009yyw.1 + 1 213 c.213G>T c.(211-213)TTG>TTT p.L71F NM_001101389 NP_001094859 C9JDP6 CLD25_HUMAN claudin 25 71 Extracellular (Potential). integral to membrane|tight junction structural molecule activity 0 AATCCTTCTTGTCTCTGCCCC 0.567000 OR10G9 219870 broad.mit.edu 37 11 123893746 123893746 + Silent SNP G G A TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e g.chr11:123893746G>A uc010sad.1 + 1 27 c.27G>A c.(25-27)GCG>GCA p.A9A NM_001001953 NP_001001953 Q8NGN4 O10G9_HUMAN olfactory receptor, family 10, subfamily G, 9 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) TCGTGACAGCGTTCATCCTCA 0.542000 NTN4 59277 broad.mit.edu 37 12 96077367 96077367 + Missense_Mutation SNP C C G TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e g.chr12:96077367C>G uc001tei.2 - 6 1750 c.1301G>C c.(1300-1302)TGC>TCC p.C434S NTN4_uc009ztf.2_Missense_Mutation_p.C434S|NTN4_uc009ztg.2_Missense_Mutation_p.C397S NM_021229 NP_067052 Q9HB63 NET4_HUMAN netrin 4 precursor 434 Laminin EGF-like 3. axon guidance basement membrane|plasma membrane upper_aerodigestive_tract(1)|ovary(1) 2 TCCCACCATGCACCTGTCACA 0.597000 GAS2L3 283431 broad.mit.edu 37 12 101016092 101016092 + Missense_Mutation SNP C C G TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e g.chr12:101016092C>G uc001thu.2 + 9 914 c.688C>G c.(688-690)CAT>GAT p.H230D GAS2L3_uc009zty.2_Missense_Mutation_p.H230D|GAS2L3_uc001thv.2_Missense_Mutation_p.H126D NM_174942 NP_777602 Q86XJ1 GA2L3_HUMAN growth arrest-specific 2 like 3 230 GAR. cell cycle arrest skin(1) 1 TAGTTGTTCTCATCGATTTTC 0.323000 GAS2L3 283431 broad.mit.edu 37 12 101016095 101016095 + Nonsense_Mutation SNP C C T TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e g.chr12:101016095C>T uc001thu.2 + 9 917 c.691C>T c.(691-693)CGA>TGA p.R231* GAS2L3_uc009zty.2_Nonsense_Mutation_p.R231*|GAS2L3_uc001thv.2_Nonsense_Mutation_p.R127* NM_174942 NP_777602 Q86XJ1 GA2L3_HUMAN growth arrest-specific 2 like 3 231 GAR. cell cycle arrest skin(1) 1 TTGTTCTCATCGATTTTCTAT 0.318000 GAS2L3 283431 broad.mit.edu 37 12 101017925 101017925 + Missense_Mutation SNP C C G TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e g.chr12:101017925C>G uc001thu.2 + 10 1568 c.1342C>G c.(1342-1344)CCA>GCA p.P448A GAS2L3_uc009zty.2_Missense_Mutation_p.P448A|GAS2L3_uc001thv.2_Missense_Mutation_p.P344A NM_174942 NP_777602 Q86XJ1 GA2L3_HUMAN growth arrest-specific 2 like 3 448 cell cycle arrest skin(1) 1 CAAGGTTATTCCAGCCCAGAA 0.413000 GAS2L3 283431 broad.mit.edu 37 12 101018070 101018070 + Missense_Mutation SNP C C A TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e g.chr12:101018070C>A uc001thu.2 + 10 1713 c.1487C>A c.(1486-1488)TCC>TAC p.S496Y GAS2L3_uc009zty.2_Missense_Mutation_p.S496Y|GAS2L3_uc001thv.2_Missense_Mutation_p.S392Y NM_174942 NP_777602 Q86XJ1 GA2L3_HUMAN growth arrest-specific 2 like 3 496 cell cycle arrest skin(1) 1 TCAAATTCATCCTCAAAATGT 0.353000 GAS2L3 283431 broad.mit.edu 37 12 101018357 101018357 + Missense_Mutation SNP C C G TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e g.chr12:101018357C>G uc001thu.2 + 10 2000 c.1774C>G c.(1774-1776)CAG>GAG p.Q592E GAS2L3_uc009zty.2_Missense_Mutation_p.Q592E|GAS2L3_uc001thv.2_Missense_Mutation_p.Q488E NM_174942 NP_777602 Q86XJ1 GA2L3_HUMAN growth arrest-specific 2 like 3 592 cell cycle arrest skin(1) 1 AAAGCAGCCTCAGAATAAAAG 0.443000 GPR109A 338442 broad.mit.edu 37 12 123187315 123187315 + Silent SNP G G A TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e g.chr12:123187315G>A uc001ucx.1 - 1 590 c.516C>T c.(514-516)GGC>GGT p.G172G GPR81_uc001ucw.1_Intron NM_177551 NP_808219 Q8TDS4 HCAR2_HUMAN G protein-coupled receptor 109A 172 Extracellular (Potential). negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis integral to membrane|plasma membrane nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled 0 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.12e-05)|Epithelial(86;3.19e-05)|BRCA - Breast invasive adenocarcinoma(302;0.196) Mepenzolate(DB04843)|Niacin(DB00627) AATTTGCACCGCCATTCTGGA 0.542000 N4BP2L2 10443 broad.mit.edu 37 13 33016759 33016759 + Missense_Mutation SNP C C G TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e g.chr13:33016759C>G uc010abe.1 - 7 1937 c.1915G>C c.(1915-1917)GAA>CAA p.E639Q N4BP2L2_uc001uug.2_Missense_Mutation_p.E522Q|N4BP2L2_uc010abd.1_Missense_Mutation_p.E552Q|N4BP2L2_uc001uuh.2_Missense_Mutation_p.E470Q|N4BP2L2_uc001uuj.2_Intron|N4BP2L2_uc010tdz.1_Missense_Mutation_p.E624Q NM_033111 NP_149102 Q92802 N42L2_HUMAN phosphonoformate immuno-associated protein 5 Error:Variant_position_missing_in_Q92802_after_alignment 0 Lung SC(185;0.0262) all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243) TGTAAAATTTCTGGAGAAATA 0.338000 GPC5 2262 broad.mit.edu 37 13 92101163 92101163 + Silent SNP G G A TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e g.chr13:92101163G>A uc010tif.1 + 2 678 c.312G>A c.(310-312)GCG>GCA p.A104A NM_004466 NP_004457 P78333 GPC5_HUMAN glypican 5 precursor 104 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding ovary(2)|skin(2)|upper_aerodigestive_tract(1) 5 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) CTCGAAATGCGGCTGCTTTTC 0.438000 RASA3 22821 broad.mit.edu 37 13 114806557 114806557 + Missense_Mutation SNP G G C TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e g.chr13:114806557G>C uc001vui.2 - 4 422 c.291C>G c.(289-291)ATC>ATG p.I97M RASA3_uc010tkk.1_Missense_Mutation_p.I65M|RASA3_uc001vuj.2_Translation_Start_Site|RASA3_uc010tkl.1_Intron NM_007368 NP_031394 Q14644 RASA3_HUMAN RAS p21 protein activator 3 97 intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane calcium-release channel activity|metal ion binding|Ras GTPase activator activity lung(3)|skin(1) 4 Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188) BRCA - Breast invasive adenocarcinoma(86;0.128) CCTCCTTCTGGATGGCCACCT 0.612000 PRKD1 5587 broad.mit.edu 37 14 30100211 30100211 + Missense_Mutation SNP T T C TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e g.chr14:30100211T>C uc001wqh.2 - 10 1590 c.1409A>G c.(1408-1410)GAA>GGA p.E470G NM_002742 NP_002733 Q15139 KPCD1_HUMAN protein kinase D1 470 PH. cell proliferation|intracellular signal transduction|sphingolipid metabolic process cytosol|integral to plasma membrane ATP binding|metal ion binding|protein binding|protein kinase C activity lung(3)|large_intestine(2)|ovary(2)|skin(1) 8 Hepatocellular(127;0.0604) LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252) GBM - Glioblastoma multiforme(265;0.00888) AGACAAAATTTCAGATAAAGG 0.318000 ARF6 382 broad.mit.edu 37 14 50360781 50360781 + Silent SNP C C T rs117373659 by1000genomes TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e g.chr14:50360781C>T uc001wxg.3 + 2 948 c.327C>T c.(325-327)GAC>GAT p.D109D NM_001663 NP_001654 P62330 ARF6_HUMAN ADP-ribosylation factor 6 109 cell adhesion|cellular component movement|cortical actin cytoskeleton organization|negative regulation of receptor-mediated endocytosis|positive regulation of actin filament polymerization|positive regulation of establishment of protein localization in plasma membrane|protein localization at cell surface|protein transport|regulation of dendritic spine development|regulation of filopodium assembly|regulation of Rac protein signal transduction|ruffle organization|small GTPase mediated signal transduction|vesicle-mediated transport cell cortex|endosome membrane|filopodium membrane|Golgi apparatus|membrane fraction|ruffle GTP binding|GTPase activity|thioesterase binding 0 all_epithelial(31;0.000822)|Breast(41;0.0117) TTATCAATGACCGGGAGATGA 0.582000 PAPLN 89932 broad.mit.edu 37 14 73730411 73730411 + Missense_Mutation SNP C C T rs139258651 byFrequency TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e g.chr14:73730411C>T uc010ttx.1 + 19 2945 c.2782C>T c.(2782-2784)CGG>TGG p.R928W PAPLN_uc001xnw.3_Missense_Mutation_p.R901W|PAPLN_uc010arl.2_RNA|PAPLN_uc010ttw.1_RNA|PAPLN_uc010tty.1_Missense_Mutation_p.R912W|PAPLN_uc010arm.2_Missense_Mutation_p.R127W|PAPLN_uc010arn.2_Missense_Mutation_p.R128W NM_173462 NP_775733 O95428 PPN_HUMAN papilin 928 Ig-like C2-type 1. proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468) GCAGTTGGTGCGGCTCTCCTG 0.637000 MAPK8IP3 23162 broad.mit.edu 37 16 1808983 1808983 + Silent SNP C C T TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e g.chr16:1808983C>T uc002cmk.2 + 10 1350 c.1230C>T c.(1228-1230)CGC>CGT p.R410R MAPK8IP3_uc002cml.2_Intron|MAPK8IP3_uc010uvl.1_Silent_p.R411R NM_015133 NP_055948 Q9UPT6 JIP3_HUMAN mitogen-activated protein kinase 8 interacting 410 vesicle-mediated transport Golgi membrane kinesin binding|MAP-kinase scaffold activity|protein kinase binding breast(2)|central_nervous_system(1) 3 CCCTAGTGCGCGATGATTTCT 0.602000 ABCC1 4363 broad.mit.edu 37 16 16126992 16126992 + Silent SNP C C A TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e g.chr16:16126992C>A uc010bvi.2 + 6 817 c.642C>A c.(640-642)TCC>TCA p.S214S ABCC1_uc010bvj.2_Silent_p.S214S|ABCC1_uc010bvk.2_Silent_p.S214S|ABCC1_uc010bvl.2_Silent_p.S214S|ABCC1_uc010bvm.2_Silent_p.S214S|ABCC1_uc002del.3_Silent_p.S98S|ABCC1_uc010bvn.2_Silent_p.S77S NM_004996 NP_004987 P33527 MRP1_HUMAN ATP-binding cassette, sub-family C, member 1 214 Cytoplasmic. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(4) 4 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) CCAGCGCTTCCTTCCTGTCGA 0.478000 SPN 6693 broad.mit.edu 37 16 29675436 29675436 + Silent SNP C C T rs139180392 byFrequency TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e g.chr16:29675436C>T uc002dtm.2 + 2 523 c.387C>T c.(385-387)ACC>ACT p.T129T uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SPN_uc002dtn.2_Silent_p.T129T|SPN_uc010bzd.2_RNA NM_001030288 NP_001025459 P16150 LEUK_HUMAN sialophorin precursor 129 Extracellular (Potential). blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process extracellular space|integral to plasma membrane bacterial cell surface binding|transmembrane receptor activity central_nervous_system(2) 2 GATCCCACACCGTGACAGGTG 0.532000 MYBBP1A 10514 broad.mit.edu 37 17 4457494 4457494 + Missense_Mutation SNP T T C TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e g.chr17:4457494T>C uc002fyb.3 - 3 436 c.374A>G c.(373-375)AAG>AGG p.K125R MYBBP1A_uc002fxz.3_Missense_Mutation_p.K125R NM_014520 NP_055335 Q9BQG0 MBB1A_HUMAN MYB binding protein 1a isoform 2 125 Interaction with MYB (By similarity). nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NLS-dependent protein nuclear import complex|nucleolus DNA binding|DNA-directed DNA polymerase activity|transcription factor binding ovary(1)|skin(1) 2 TCTCACCTTCTTCACCTGATG 0.567000 TP53 7157 broad.mit.edu 37 17 7577568 7577568 + Missense_Mutation SNP C C A TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e g.chr17:7577568C>A uc002gim.2 - 7 907 c.713G>T c.(712-714)TGT>TTT p.C238F TP53_uc002gig.1_Missense_Mutation_p.C238F|TP53_uc002gih.2_Missense_Mutation_p.C238F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C106F|TP53_uc010cng.1_Missense_Mutation_p.C106F|TP53_uc002gii.1_Missense_Mutation_p.C106F|TP53_uc010cnh.1_Missense_Mutation_p.C238F|TP53_uc010cni.1_Missense_Mutation_p.C238F|TP53_uc002gij.2_Missense_Mutation_p.C238F|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.C145F|TP53_uc002gio.2_Missense_Mutation_p.C106F NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 238 |Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). Zinc. C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> F (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> R (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.C238Y(47)|p.C238F(34)|p.C238S(18)|p.C238R(14)|p.0?(7)|p.C238*(4)|p.C238W(2)|p.Y236_M243delYMCNSSCM(1)|p.C238fs*2(1)|p.V225fs*23(1)|p.C238_N239insX(1)|p.C238_M246delCNSSCMGGM(1)|p.C238fs*9(1)|p.M237_N239delMCN(1)|p.C238fs*21(1)|p.C238del(1)|p.C238G(1)|p.C238C(1)|p.M237fs*1(1)|p.C145F(1)|p.H233fs*6(1)|p.H233_C242del10(1)|p.N239_C242del(1)|p.M237_C238insX(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) GGAACTGTTACACATGTAGTT 0.572000 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) MYH1 4619 broad.mit.edu 37 17 10417440 10417440 + Missense_Mutation SNP C C T TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e g.chr17:10417440C>T uc002gmo.2 - 7 629 c.535G>A c.(535-537)GGA>AGA p.G179R uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 179 Myosin head-like.|ATP (Potential). muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1) 21 CCAGATTCTCCGCTGTCAAAG 0.418000 POLG2 11232 broad.mit.edu 37 17 62488810 62488810 + Missense_Mutation SNP G G A TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e g.chr17:62488810G>A uc002jei.2 - 3 852 c.769C>T c.(769-771)CGT>TGT p.R257C POLG2_uc010deg.1_Missense_Mutation_p.R257C NM_007215 NP_009146 Q9UHN1 DPOG2_HUMAN DNA polymerase subunit gamma-2, mitochondrial 257 DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation mitochondrial chromosome ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding central_nervous_system(1) 1 Breast(5;2.15e-14) BRCA - Breast invasive adenocarcinoma(8;4.97e-11) AGTCGATGACGTAACCAGAAA 0.358000 APOH 350 broad.mit.edu 37 17 64212961 64212961 + Silent SNP C C T TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e g.chr17:64212961C>T uc002jfn.3 - 6 788 c.729G>A c.(727-729)CCG>CCA p.P243P NM_000042 NP_000033 P02749 APOH_HUMAN apolipoprotein H precursor 243 Sushi 4. blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding 0 BRCA - Breast invasive adenocarcinoma(6;9.74e-08) CTATTTCTTCCGGGCCATCCA 0.423000 KCNJ16 3773 broad.mit.edu 37 17 68128638 68128638 + Missense_Mutation SNP G G A rs144258139 TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e g.chr17:68128638G>A uc002jin.2 + 5 896 c.410G>A c.(409-411)CGC>CAC p.R137H KCNJ16_uc002jio.2_Missense_Mutation_p.R137H|KCNJ16_uc002jip.2_Missense_Mutation_p.R137H|KCNJ16_uc002jiq.2_Missense_Mutation_p.R169H NM_018658 NP_061128 Q9NPI9 IRK16_HUMAN potassium inwardly-rectifying channel J16 137 Extracellular (By similarity). synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(10;2.96e-09) TATGGTTATCGCTGTGTTACT 0.458000 SETBP1 26040 broad.mit.edu 37 18 42532485 42532485 + Missense_Mutation SNP G G A TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e g.chr18:42532485G>A uc010dni.2 + 4 3476 c.3180G>A c.(3178-3180)ATG>ATA p.M1060I NM_015559 NP_056374 Q9Y6X0 SETBP_HUMAN SET binding protein 1 isoform a 1060 nucleus DNA binding upper_aerodigestive_tract(2)|large_intestine(1) 3 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) CAATGCCTATGATGAACCTTG 0.488000 Schinzel-Giedion_syndrome CDH20 28316 broad.mit.edu 37 18 59221564 59221564 + Missense_Mutation SNP C C T TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e g.chr18:59221564C>T uc010dps.1 + 11 2054 c.2042C>T c.(2041-2043)GCG>GTG p.A681V CDH20_uc002lif.2_Missense_Mutation_p.A675V NM_031891 NP_114097 Q9HBT6 CAD20_HUMAN cadherin 20, type 2 preproprotein 681 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|ovary(1)|pancreas(1) 5 Colorectal(73;0.186) TTCGACATCGCGGCCATGTGG 0.667000 RDH8 50700 broad.mit.edu 37 19 10132297 10132297 + Missense_Mutation SNP G G A TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e g.chr19:10132297G>A uc002mmr.2 + 6 1057 c.808G>A c.(808-810)GTG>ATG p.V270M NM_015725 NP_056540 Q9NYR8 RDH8_HUMAN retinol dehydrogenase 8 (all-trans) 270 estrogen biosynthetic process|response to stimulus|visual perception cytoplasm|integral to plasma membrane binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity ovary(3)|pancreas(1) 4 Epithelial(33;4.24e-05) Vitamin A(DB00162) GCTCAAAACCGTGGATTCCTC 0.607000 CYP4F22 126410 broad.mit.edu 37 19 15651382 15651382 + Missense_Mutation SNP C C T rs144569785 TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e g.chr19:15651382C>T uc002nbh.3 + 8 960 c.793C>T c.(793-795)CGG>TGG p.R265W NM_173483 NP_775754 Q6NT55 CP4FN_HUMAN cytochrome P450, family 4, subfamily F, 265 endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen ovary(1)|pancreas(1) 2 GCGGAGGTTCCGGCAGGCCTG 0.617000 NLRP12 91662 broad.mit.edu 37 19 54314031 54314031 + Silent SNP G G A rs147080557 by1000genomes TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e g.chr19:54314031G>A uc002qch.3 - 3 1102 c.882C>T c.(880-882)GAC>GAT p.D294D NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Silent_p.D294D|NLRP12_uc002qcj.3_Silent_p.D294D|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Silent_p.D294D NM_144687 NP_653288 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 isoform 294 NACHT. negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding ovary(4)|upper_aerodigestive_tract(2)|lung(1) 7 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) CATCGAAGCCGTCGATGATGA 0.582000 LILRB5 10990 broad.mit.edu 37 19 54758651 54758651 + Missense_Mutation SNP G G C TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e g.chr19:54758651G>C uc002qex.2 - 6 1313 c.1202C>G c.(1201-1203)TCC>TGC p.S401C LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_Missense_Mutation_p.S392C|LILRB5_uc002qey.2_Missense_Mutation_p.S401C|LILRB5_uc002qez.2_Missense_Mutation_p.S301C|LILRB5_uc002qfa.1_Missense_Mutation_p.S291C|LILRB5_uc010yes.1_RNA NM_006840 NP_006831 O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, 401 Ig-like C2-type 4.|Extracellular (Potential). cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity ovary(1)|pancreas(1) 2 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GTAGGGGTAGGACCTGATTGC 0.567000 TTYH1 57348 broad.mit.edu 37 19 54932467 54932467 + Missense_Mutation SNP G G A TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e g.chr19:54932467G>A uc002qfq.2 + 3 414 c.322G>A c.(322-324)GGT>AGT p.G108S TTYH1_uc010yey.1_Missense_Mutation_p.G157S|TTYH1_uc002qfr.2_Missense_Mutation_p.G108S|TTYH1_uc002qft.2_Missense_Mutation_p.G108S|TTYH1_uc002qfu.1_Missense_Mutation_p.G23S NM_020659 NP_065710 Q9H313 TTYH1_HUMAN tweety 1 isoform 1 108 Helical; Name=2; (Potential). cell adhesion chloride channel complex|plasma membrane chloride channel activity|iron ion transmembrane transporter activity 0 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0767) CATTGGCATCGGTTTCTATGG 0.642000 RAB10 10890 broad.mit.edu 37 2 26332773 26332773 + Nonsense_Mutation SNP G G T TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e g.chr2:26332773G>T uc002rgv.2 + 3 1074 c.325G>T c.(325-327)GAG>TAG p.E109* NM_016131 NP_057215 P61026 RAB10_HUMAN ras-related GTP-binding protein RAB10 109 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|protein binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AAACATAGATGAGGTAAGACC 0.368000 PLB1 151056 broad.mit.edu 37 2 28812361 28812361 + Silent SNP G G A TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e g.chr2:28812361G>A uc002rmb.1 + 27 1860 c.1860G>A c.(1858-1860)AGG>AGA p.R620R PLB1_uc010ezj.1_Silent_p.R609R|PLB1_uc002rmc.2_Silent_p.R308R|PLB1_uc002rmd.1_Silent_p.R130R NM_153021 NP_694566 Q6P1J6 PLB1_HUMAN phospholipase B1 precursor 620 4 X 308-326 AA approximate repeats.|2.|Extracellular (Potential). lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity ovary(4)|large_intestine(2)|skin(2)|breast(1) 9 Acute lymphoblastic leukemia(172;0.155) ATGACACAAGGGAAGATTTTA 0.488000 TMEM178 130733 broad.mit.edu 37 2 39893123 39893123 + Silent SNP G G A TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e g.chr2:39893123G>A uc002rrt.2 + 1 34 c.9G>A c.(7-9)CCG>CCA p.P3P TMEM178_uc010fam.1_Silent_p.P3P NM_152390 NP_689603 Q8NBL3 TM178_HUMAN transmembrane protein 178 precursor 3 integral to membrane 0 all_hematologic(82;0.248) CCATGGAGCCGCGGGCGCTCG 0.473000 PSD4 23550 broad.mit.edu 37 2 113942985 113942985 + Nonsense_Mutation SNP G G A TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e g.chr2:113942985G>A uc002tjc.2 + 4 1400 c.1217G>A c.(1216-1218)TGG>TAG p.W406* PSD4_uc002tjd.2_5'UTR|PSD4_uc002tje.2_Nonsense_Mutation_p.W405*|PSD4_uc002tjf.2_5'UTR NM_012455 NP_036587 Q8NDX1 PSD4_HUMAN pleckstrin and Sec7 domain containing 4 406 regulation of ARF protein signal transduction cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity ovary(2) 2 GGTCCTTTTTGGCCCCAGGTG 0.512000 C2orf85 285093 broad.mit.edu 37 2 242814250 242814250 + Silent SNP C C T TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e g.chr2:242814250C>T uc010fzu.1 + 2 566 c.543C>T c.(541-543)ACC>ACT p.T181T NM_173821 NP_776182 Q14D33 CB085_HUMAN hypothetical protein LOC285093 181 integral to membrane ovary(1) 1 GCACTGGCACCGTCTCCAGGG 0.662000 KIAA0406 9675 broad.mit.edu 37 20 36627656 36627656 + Silent SNP C C T TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e g.chr20:36627656C>T uc002xhl.2 - 6 2936 c.2727G>A c.(2725-2727)CAG>CAA p.Q909Q KIAA0406_uc002xhm.2_Silent_p.Q909Q NM_014657 NP_055472 O43156 TTI1_HUMAN hypothetical protein LOC9675 909 binding 0 Myeloproliferative disorder(115;0.00874) AGGGCCAGGCCTGATGAGCCA 0.557000 ZHX3 23051 broad.mit.edu 37 20 39833134 39833134 + Silent SNP G G A rs113667928 byFrequency TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e g.chr20:39833134G>A uc002xjs.1 - 3 801 c.423C>T c.(421-423)AAC>AAT p.N141N ZHX3_uc002xjq.1_Silent_p.N141N|ZHX3_uc002xjr.1_Silent_p.N141N|ZHX3_uc002xjt.1_Silent_p.N141N|ZHX3_uc002xju.1_Silent_p.N141N|ZHX3_uc002xjv.1_Silent_p.N141N|ZHX3_uc002xjw.1_Silent_p.N141N|ZHX3_uc010ggg.1_Silent_p.N141N NM_015035 NP_055850 Q9H4I2 ZHX3_HUMAN zinc fingers and homeoboxes 3 141 negative regulation of transcription, DNA-dependent cytoplasm|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 Myeloproliferative disorder(115;0.00425) GCTTGGCCACGTTCCACACAA 0.567000 TOM1 10043 broad.mit.edu 37 22 35719519 35719519 + Missense_Mutation SNP G G A TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e g.chr22:35719519G>A uc003ann.2 + 5 522 c.397G>A c.(397-399)GAT>AAT p.D133N TOM1_uc011ami.1_Missense_Mutation_p.D100N|TOM1_uc011amj.1_5'UTR|TOM1_uc003ans.2_5'UTR|TOM1_uc011amk.1_Missense_Mutation_p.D95N|TOM1_uc003anp.2_Missense_Mutation_p.D133N|TOM1_uc011aml.1_Intron|TOM1_uc003ano.2_RNA|TOM1_uc003anq.2_Missense_Mutation_p.D127N|TOM1_uc003anr.2_5'UTR NM_005488 NP_005479 O60784 TOM1_HUMAN target of myb1 isoform 1 133 VHS. endocytosis|endosome transport|intracellular protein transport cytosol|early endosome|membrane protein binding ovary(1) 1 CAGCTCGCCCGATCTGACAGG 0.617000 ATP2B2 491 broad.mit.edu 37 3 10417266 10417266 + Missense_Mutation SNP C C T TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e g.chr3:10417266C>T uc003bvt.2 - 11 1703 c.1264G>A c.(1264-1266)GTG>ATG p.V422M ATP2B2_uc003bvv.2_Missense_Mutation_p.V377M|ATP2B2_uc003bvw.2_Missense_Mutation_p.V377M|ATP2B2_uc010hdo.2_Missense_Mutation_p.V127M NM_001001331 NP_001001331 Q01814 AT2B2_HUMAN plasma membrane calcium ATPase 2 isoform 1 422 Extracellular (Potential). ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding ovary(3)|skin(2)|central_nervous_system(1) 6 TTGTTGACCACGAAGGTGTCC 0.562000 FBLN2 2199 broad.mit.edu 37 3 13669425 13669425 + Missense_Mutation SNP G G A TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e g.chr3:13669425G>A uc011avb.1 + 10 2509 c.2384G>A c.(2383-2385)CGC>CAC p.R795H FBLN2_uc011auz.1_Missense_Mutation_p.R821H|FBLN2_uc011ava.1_Missense_Mutation_p.R842H|FBLN2_uc011avc.1_Missense_Mutation_p.R842H NM_001998 NP_001989 P98095 FBLN2_HUMAN fibulin 2 isoform b precursor 795 EGF-like 4; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (1;0.00416) GCCAGGCAGCGCTGCATGGAT 0.627000 MBD4 8930 broad.mit.edu 37 3 129152786 129152786 + Missense_Mutation SNP G G T TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e g.chr3:129152786G>T uc003emh.1 - 5 1494 c.1318C>A c.(1318-1320)CCT>ACT p.P440T MBD4_uc003emi.1_Missense_Mutation_p.P440T|MBD4_uc003emj.1_Missense_Mutation_p.P434T|MBD4_uc003emk.1_Missense_Mutation_p.P122T|MBD4_uc011bkw.1_Missense_Mutation_p.P440T NM_003925 NP_003916 O95243 MBD4_HUMAN methyl-CpG binding domain protein 4 440 depyrimidination nucleoplasm DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding ovary(1)|lung(1) 2 GACCGAGGAGGTGTCCATTTC 0.413000 BER_DNA_glycosylases EPHB1 2047 broad.mit.edu 37 3 134920403 134920403 + Missense_Mutation SNP T T C TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e g.chr3:134920403T>C uc003eqt.2 + 12 2438 c.2218T>C c.(2218-2220)TAT>CAT p.Y740H EPHB1_uc003equ.2_Missense_Mutation_p.Y301H NM_004441 NP_004432 P54762 EPHB1_HUMAN ephrin receptor EphB1 precursor 740 Cytoplasmic (Potential).|Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1) 30 TGAGATGAATTATGTGCATCG 0.532000 CLDN11 5010 broad.mit.edu 37 3 170150502 170150502 + Silent SNP G G A TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e g.chr3:170150502G>A uc003fgx.2 + 3 784 c.582G>A c.(580-582)GCG>GCA p.A194A CLDN11_uc011bpt.1_Intron|CLDN11_uc003fgy.2_Silent_p.A110A NM_005602 NP_005593 O75508 CLD11_HUMAN claudin 11 194 Cytoplasmic (Potential). RFYYTAGSSSPTHAKSAHV -> VSTTLRALAPRLMRRVPT YKRAARLPTEVL (in Ref. 1; AAC25187). calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity central_nervous_system(1) 1 all_cancers(22;5.62e-23)|all_epithelial(15;7.54e-28)|all_lung(20;2.51e-17)|Lung NSC(18;1.02e-16)|Ovarian(172;0.000567)|Breast(254;0.137) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197) ACTACACTGCGGGCTCTAGCT 0.612000 ECT2 1894 broad.mit.edu 37 3 172486836 172486836 + Missense_Mutation SNP C C T TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e g.chr3:172486836C>T uc003fii.2 + 12 1376 c.1238C>T c.(1237-1239)ACT>ATT p.T413I ECT2_uc010hwv.1_Missense_Mutation_p.T444I|ECT2_uc003fih.2_Missense_Mutation_p.T412I|ECT2_uc003fij.1_Missense_Mutation_p.T413I|ECT2_uc003fik.1_Missense_Mutation_p.T413I|ECT2_uc003fil.1_Missense_Mutation_p.T444I NM_018098 NP_060568 Q9H8V3 ECT2_HUMAN epithelial cell transforming sequence 2 oncogene 413 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity|signal transducer activity breast(2)|ovary(1)|skin(1) 4 Ovarian(172;0.00197)|Breast(254;0.158) Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14) AAAAGCTCCACTCCAGTTCCT 0.348000 ATP13A5 344905 broad.mit.edu 37 3 193081122 193081122 + Missense_Mutation SNP G G T rs12637558 byFrequency TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e g.chr3:193081122G>T uc011bsq.1 - 3 287 c.287C>A c.(286-288)TCC>TAC p.S96Y NM_198505 NP_940907 Q4VNC0 AT135_HUMAN ATPase type 13A5 96 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding p.S96Y(1) ovary(5)|skin(4)|large_intestine(2) 11 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) CTTCAGTGTGGATAAGTAGAG 0.398000 EPHA5 2044 broad.mit.edu 37 4 66217148 66217148 + Missense_Mutation SNP G G A TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e g.chr4:66217148G>A uc003hcy.2 - 14 2660 c.2467C>T c.(2467-2469)CGG>TGG p.R823W EPHA5_uc003hcx.2_Missense_Mutation_p.R755W|EPHA5_uc003hcz.2_Missense_Mutation_p.R801W|EPHA5_uc011cah.1_Missense_Mutation_p.R824W|EPHA5_uc011cai.1_Missense_Mutation_p.R802W|EPHA5_uc003hda.2_Missense_Mutation_p.R824W NM_004439 NP_004430 P54756 EPHA5_HUMAN ephrin receptor EphA5 isoform a precursor 823 Cytoplasmic (Potential).|Protein kinase. cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity lung(19)|stomach(2)|ovary(2)|central_nervous_system(1) 24 TCCAGTACCCGGGAAAGTCCA 0.433000 TSP Lung(17;0.13) RG9MTD2 93587 broad.mit.edu 37 4 100470352 100470352 + Missense_Mutation SNP C C T TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e g.chr4:100470352C>T uc003huy.2 - 8 1226 c.913G>A c.(913-915)GAT>AAT p.D305N RG9MTD2_uc003huz.3_Missense_Mutation_p.D305N|RG9MTD2_uc003hva.3_Missense_Mutation_p.D305N NM_152292 NP_689505 Q8TBZ6 RG9D2_HUMAN RNA (guanine-9-) methyltransferase domain 305 methyltransferase activity ovary(2)|breast(1) 3 OV - Ovarian serous cystadenocarcinoma(123;1.7e-08) TCACTGGAATCACTGTCCGAT 0.463000 PCDH10 57575 broad.mit.edu 37 4 134073378 134073378 + Missense_Mutation SNP G G C TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e g.chr4:134073378G>C uc003iha.2 + 1 2909 c.2083G>C c.(2083-2085)GGG>CGG p.G695R PCDH10_uc003igz.2_Missense_Mutation_p.G695R NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 695 Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) cggaggcggaggGTCAGGAGA 0.577000 CTNND2 1501 broad.mit.edu 37 5 11364949 11364949 + Missense_Mutation SNP G G A TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e g.chr5:11364949G>A uc003jfa.1 - 8 1376 c.1231C>T c.(1231-1233)CGG>TGG p.R411W CTNND2_uc010itt.2_Missense_Mutation_p.R320W|CTNND2_uc011cmy.1_Missense_Mutation_p.R74W|CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_5'UTR NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 411 ARM 1. multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1) 8 TGCAGGGCCCGCAACTCTGGG 0.577000 F2R 2149 broad.mit.edu 37 5 76028449 76028449 + Silent SNP C C T TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e g.chr5:76028449C>T uc003ken.3 + 2 664 c.399C>T c.(397-399)GTC>GTT p.V133V NM_001992 NP_001983 P25116 PAR1_HUMAN coagulation factor II receptor precursor 133 Cytoplasmic (Potential). activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network receptor binding|thrombin receptor activity ovary(3) 3 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129) all cancers(79;4.43e-43) Streptokinase(DB00086) AAATGAAGGTCAAGAAGCCGG 0.512000 FKBP5 2289 broad.mit.edu 37 6 35586920 35586920 + Missense_Mutation SNP C C T rs140297532 byFrequency TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e g.chr6:35586920C>T uc011dte.1 - 5 664 c.461G>A c.(460-462)CGG>CAG p.R154Q FKBP5_uc003okx.2_Missense_Mutation_p.R154Q|FKBP5_uc011dtf.1_Intron|FKBP5_uc003oky.2_Missense_Mutation_p.R154Q|FKBP5_uc003okz.2_Missense_Mutation_p.R154Q NM_001145776 NP_001139248 Q13451 FKBP5_HUMAN FK506 binding protein 5 isoform 1 154 protein folding cytoplasm|membrane|nucleus FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity ovary(1) 1 CTCTCCTTTCCGTTTGGTTCT 0.383000 MCHR2 84539 broad.mit.edu 37 6 100382330 100382330 + Silent SNP A A G TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e g.chr6:100382330A>G uc003pqh.1 - 5 966 c.651T>C c.(649-651)TAT>TAC p.Y217Y MCHR2_uc003pqi.1_Silent_p.Y217Y NM_001040179 NP_001035269 Q969V1 MCHR2_HUMAN melanin-concentrating hormone receptor 2 217 Helical; Name=5; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 8 all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069) BRCA - Breast invasive adenocarcinoma(108;0.0429) AAATTAAAATATAGCACACCA 0.259000 FAM162B 221303 broad.mit.edu 37 6 117083148 117083148 + Missense_Mutation SNP C C A TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e g.chr6:117083148C>A uc003pxi.2 - 3 529 c.382G>T c.(382-384)GCC>TCC p.A128S NM_001085480 NP_001078949 Q5T6X4 F162B_HUMAN hypothetical protein LOC221303 128 integral to membrane 0 ACCCTTTTGGCTGACACTATC 0.418000 TULP4 56995 broad.mit.edu 37 6 158870124 158870124 + Missense_Mutation SNP G G A rs35262826 byFrequency TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e g.chr6:158870124G>A uc003qrf.2 + 4 1997 c.640G>A c.(640-642)GGC>AGC p.G214S TULP4_uc011efo.1_Missense_Mutation_p.G214S|TULP4_uc003qrg.2_Missense_Mutation_p.G214S NM_020245 NP_064630 Q9NRJ4 TULP4_HUMAN tubby like protein 4 isoform 1 214 intracellular signal transduction|response to nutrient cytoplasm protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171) OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05) CGGTGTCCTCGGCATGTCCTG 0.602000 DLL1 28514 broad.mit.edu 37 6 170592399 170592399 + Missense_Mutation SNP G G T rs144070852 TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e g.chr6:170592399G>T uc003qxm.2 - 9 2438 c.1968C>A c.(1966-1968)GAC>GAA p.D656E NM_005618 NP_005609 O00548 DLL1_HUMAN delta-like 1 precursor 656 Cytoplasmic (Potential). cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion extracellular region|integral to plasma membrane calcium ion binding|Notch binding lung(4)|ovary(1) 5 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584) TGCTGTGCGCGTCCCTGACGG 0.677000 TMEM195 392636 broad.mit.edu 37 7 15584510 15584510 + Missense_Mutation SNP T T A TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e g.chr7:15584510T>A uc003stb.1 - 3 466 c.296A>T c.(295-297)TAT>TTT p.Y99F NM_001004320 NP_001004320 Q6ZNB7 ALKMO_HUMAN transmembrane protein 195 99 ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process endoplasmic reticulum membrane|integral to membrane glyceryl-ether monooxygenase activity|iron ion binding 0 CTCCCAGATATAAATATAACT 0.353000 CAMK2B 816 broad.mit.edu 37 7 44259793 44259793 + Silent SNP C C T rs149916298 byFrequency TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e g.chr7:44259793C>T uc003tkq.2 - 23 2079 c.1869G>A c.(1867-1869)ACG>ACA p.T623T CAMK2B_uc003tkp.2_Silent_p.T499T|CAMK2B_uc003tkx.2_Silent_p.T459T|CAMK2B_uc010kyd.2_RNA|CAMK2B_uc003tkr.2_Silent_p.T475T|CAMK2B_uc003tks.2_Silent_p.T474T|CAMK2B_uc003tku.2_Silent_p.T460T|CAMK2B_uc003tkv.2_Silent_p.T436T|CAMK2B_uc003tkt.2_Silent_p.T449T|CAMK2B_uc003tkw.2_Silent_p.T406T|CAMK2B_uc010kyc.2_Silent_p.T499T|CAMK2B_uc003tkn.2_Silent_p.T256T NM_001220 NP_001211 Q13554 KCC2B_HUMAN calcium/calmodulin-dependent protein kinase II 623 interferon-gamma-mediated signaling pathway|synaptic transmission cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity large_intestine(1)|ovary(1) 2 CAATGTACTGCGTGAGCCGGA 0.637000 ABCA13 154664 broad.mit.edu 37 7 48559747 48559747 + Silent SNP G G C TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e g.chr7:48559747G>C uc003toq.2 + 53 13933 c.13908G>C c.(13906-13908)CTG>CTC p.L4636L ABCA13_uc010kys.1_Silent_p.L1711L|ABCA13_uc010kyt.1_RNA|ABCA13_uc010kyu.1_Silent_p.L366L NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 4636 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 AATATGACCTGACCCACAACT 0.448000 SEMA3A 10371 broad.mit.edu 37 7 83614755 83614755 + Missense_Mutation SNP C C G TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e g.chr7:83614755C>G uc003uhz.2 - 13 1806 c.1491G>C c.(1489-1491)AAG>AAC p.K497N NM_006080 NP_006071 Q14563 SEM3A_HUMAN semaphorin 3A precursor 497 Sema. axon guidance extracellular region|membrane receptor activity ovary(2)|breast(1)|kidney(1) 4 ATAGTACCTGCTTAGTGGAAA 0.313000 MTUS1 57509 broad.mit.edu 37 8 17601257 17601257 + Missense_Mutation SNP C C T TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e g.chr8:17601257C>T uc003wxv.2 - 3 2617 c.2143G>A c.(2143-2145)GAC>AAC p.D715N MTUS1_uc010lsy.2_RNA|MTUS1_uc003wxw.2_Missense_Mutation_p.D715N|MTUS1_uc010lsz.2_Missense_Mutation_p.D715N NM_001001924 NP_001001924 Q9ULD2 MTUS1_HUMAN mitochondrial tumor suppressor 1 isoform 1 715 Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle ovary(1)|skin(1) 2 Colorectal(111;0.0778) CCGCAGGAGTCAGGCTTGGAT 0.418000 PXDNL 137902 broad.mit.edu 37 8 52384808 52384808 + Missense_Mutation SNP C C T TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e g.chr8:52384808C>T uc003xqu.3 - 8 852 c.751G>A c.(751-753)GTC>ATC p.V251I NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 251 Ig-like C2-type 1. hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|pancreas(1) 2 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) GTGAAGTAGACGGTATTTCCT 0.433000 PREX2 80243 broad.mit.edu 37 8 69009347 69009347 + Missense_Mutation SNP G G A TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e g.chr8:69009347G>A uc003xxv.1 + 22 2491 c.2464G>A c.(2464-2466)GTG>ATG p.V822M PREX2_uc003xxu.1_Missense_Mutation_p.V822M|PREX2_uc011lez.1_Missense_Mutation_p.V757M NM_024870 NP_079146 Q70Z35 PREX2_HUMAN DEP domain containing 2 isoform a 822 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1) 17 ATATGGTGTCGTGTATGAGTA 0.463000 APBA1 320 broad.mit.edu 37 9 72132004 72132004 + Silent SNP C C T TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e g.chr9:72132004C>T uc004ahh.2 - 2 399 c.123G>A c.(121-123)CCG>CCA p.P41P NM_001163 NP_001154 Q02410 APBA1_HUMAN amyloid beta A4 precursor protein-binding, 41 axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission synaptic vesicle lung(1) 1 GCTGCTGCGGCGGCTGCTGCT 0.716000 FLJ46321 389763 broad.mit.edu 37 9 84609979 84609979 + Missense_Mutation SNP C C T TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e g.chr9:84609979C>T uc004amn.2 + 4 4641 c.4594C>T c.(4594-4596)CGG>TGG p.R1532W NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN hypothetical protein LOC389763 1532 integral to membrane 0 CCCCACTTGCCGGCGTCAGGT 0.532000 SLC2A6 11182 broad.mit.edu 37 9 136341384 136341384 + Silent SNP G G A TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e g.chr9:136341384G>A uc004cee.2 - 4 632 c.537C>T c.(535-537)TTC>TTT p.F179F SLC2A6_uc004cef.2_Silent_p.F179F|SLC2A6_uc004ceg.2_Silent_p.F179F|SLC2A6_uc011mdj.1_Silent_p.F179F NM_017585 NP_060055 Q9UGQ3 GTR6_HUMAN solute carrier family 2 (facilitated glucose 179 Helical; Name=5; (Potential). integral to membrane|plasma membrane D-glucose transmembrane transporter activity 0 OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05) ACAGGGATCCGAACACTGCCA 0.652000 ZNF182 7569 broad.mit.edu 37 X 47836536 47836536 + Missense_Mutation SNP G G A TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e g.chrX:47836536G>A uc004dir.2 - 7 1296 c.950C>T c.(949-951)CCT>CTT p.P317L ZNF182_uc004dis.2_Missense_Mutation_p.P298L|ZNF182_uc004dit.2_Missense_Mutation_p.P317L|ZNF182_uc011mlu.1_Missense_Mutation_p.P297L NM_006962 NP_008893 P17025 ZN182_HUMAN zinc finger protein 21 isoform 1 317 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|lung(1) 3 ACATTCATAAGGTTTTTCTCC 0.413000 HUWE1 10075 broad.mit.edu 37 X 53576261 53576261 + Missense_Mutation SNP G G A TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e g.chrX:53576261G>A uc004dsp.2 - 67 10096 c.9694C>T c.(9694-9696)CGC>TGC p.R3232C HUWE1_uc004dsn.2_Missense_Mutation_p.R2040C NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 3232 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity ovary(8)|large_intestine(4)|breast(4)|kidney(1) 17 TCACTGCTGCGCTGCAAGATG 0.512000 USP51 158880 broad.mit.edu 37 X 55515254 55515254 + Missense_Mutation SNP G G A TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e g.chrX:55515254G>A uc004dun.1 - 2 198 c.119C>T c.(118-120)GCG>GTG p.A40V USP51_uc011moo.1_5'Flank NM_201286 NP_958443 Q70EK9 UBP51_HUMAN ubiquitin specific protease 51 40 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding ovary(1)|lung(1)|breast(1) 3 CCCCGCCGCCGCCTCCTCCAT 0.647000 CAPN6 827 broad.mit.edu 37 X 110494255 110494255 + Nonsense_Mutation SNP G G A TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e g.chrX:110494255G>A uc004epc.1 - 8 1216 c.1048C>T c.(1048-1050)CGA>TGA p.R350* CAPN6_uc011msu.1_Nonsense_Mutation_p.R95* NM_014289 NP_055104 Q9Y6Q1 CAN6_HUMAN calpain 6 350 Domain III. microtubule bundle formation|proteolysis|regulation of cytoskeleton organization perinuclear region of cytoplasm|spindle microtubule calcium-dependent cysteine-type endopeptidase activity|microtubule binding ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|skin(1) 6 AGCTCCTTTCGGCCAAAAATA 0.498000 STAG2 10735 broad.mit.edu 37 X 123220506 123220506 + Missense_Mutation SNP G G A TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e g.chrX:123220506G>A uc004etz.3 + 29 3502 c.3163G>A c.(3163-3165)GAC>AAC p.D1055N STAG2_uc004eua.2_Missense_Mutation_p.D1055N|STAG2_uc004eub.2_Missense_Mutation_p.D1055N|STAG2_uc004euc.2_Missense_Mutation_p.D1055N|STAG2_uc004eud.2_Missense_Mutation_p.D1055N|STAG2_uc004eue.2_Missense_Mutation_p.D1055N NM_006603 NP_006594 Q8N3U4 STAG2_HUMAN stromal antigen 2 isoform b 1055 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding ovary(4)|skin(1) 5 TGGTGATGATGACACCATGTC 0.458000 VGLL1 51442 broad.mit.edu 37 X 135631089 135631089 + Missense_Mutation SNP G G A TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e g.chrX:135631089G>A uc004ezy.2 + 3 726 c.556G>A c.(556-558)GCC>ACC p.A186T MIR934_hsa-mir-934|MI0005756_5'Flank NM_016267 NP_057351 Q99990 VGLL1_HUMAN vestigial like 1 186 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus transcription coactivator activity 0 Acute lymphoblastic leukemia(192;0.000127) GGAATCTGCCGCCAGGGAGAA 0.577000 SLITRK2 84631 broad.mit.edu 37 X 144905642 144905642 + Missense_Mutation SNP G G C TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e g.chrX:144905642G>C uc004fcd.2 + 5 2689 c.1699G>C c.(1699-1701)GAG>CAG p.E567Q SLITRK2_uc010nsp.2_Missense_Mutation_p.E567Q|SLITRK2_uc010nso.2_Missense_Mutation_p.E567Q|SLITRK2_uc011mwq.1_Missense_Mutation_p.E567Q|SLITRK2_uc011mwr.1_Missense_Mutation_p.E567Q|SLITRK2_uc011mws.1_Missense_Mutation_p.E567Q|SLITRK2_uc004fcg.2_Missense_Mutation_p.E567Q|SLITRK2_uc011mwt.1_Missense_Mutation_p.E567Q NM_032539 NP_115928 Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 precursor 567 Extracellular (Potential).|LRRCT 2. integral to membrane ovary(5)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(192;6.56e-05) GCATGCAGGGGAGATACTAAA 0.478000 MTMR1 8776 broad.mit.edu 37 X 149905805 149905805 + Missense_Mutation SNP C C T TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e g.chrX:149905805C>T uc004fei.2 + 11 1469 c.1334C>T c.(1333-1335)ACA>ATA p.T445I MTMR1_uc011mya.1_Missense_Mutation_p.T351I|MTMR1_uc004feh.1_Missense_Mutation_p.T453I|MTMR1_uc004fej.2_RNA|MTMR1_uc010ntf.2_RNA NM_003828 NP_003819 Q13613 MTMR1_HUMAN myotubularin-related protein 1 445 Myotubularin phosphatase. plasma membrane protein tyrosine phosphatase activity ovary(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) TGGGACCGAACAGCCCAGCTC 0.453000 ATP2B3 492 broad.mit.edu 37 X 152845624 152845624 + Silent SNP G G A TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e g.chrX:152845624G>A uc004fht.1 + 20 3657 c.3531G>A c.(3529-3531)CCG>CCA p.P1177P ATP2B3_uc004fhs.1_3'UTR|ATP2B3_uc010nuf.1_Silent_p.P314P|ATP2B3_uc004fhu.1_Silent_p.P129P NM_001001344 NP_001001344 Q16720 AT2B3_HUMAN plasma membrane calcium ATPase 3 isoform 3b 1177 Cytoplasmic (Potential).|Poly-Pro. ATP biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding pancreas(1) 1 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CCCCGCCCCCGTCCCCCAACC 0.602000 FOXD4 2298 broad.mit.edu 37 9 117413 117414 + Frame_Shift_Ins INS - - G TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e g.chr9:117412_117413A>AG uc003zfz.3 - 0 1005_1006 c.707_708T>CT c.(706-708)cctfs p.P236fs NM_207305 NP_997188 Q12950 FOXD4_HUMAN Homo sapiens forkhead box D4 (FOXD4), mRNA. 236 Pro-rich. axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3) 14 all_lung(41;0.218) all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06) Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157) all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154) GCGGCGGGGCAGGGGCCCCAAG 0.728