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 PLOD1 5351 broad.mit.edu 37 1 12008083 12008083 + Missense_Mutation SNP C C T TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr1:12008083C>T uc001atm.2 + 2 218 c.127C>T c.(127-129)CGC>TGC p.R43C PLOD1_uc010obb.1_Missense_Mutation_p.R90C NM_000302 NP_000293 Q02809 PLOD1_HUMAN lysyl hydroxylase 1 precursor 43 epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity ovary(2)|breast(1) 3 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126) GGGATTCCGTCGCTTCAAGCG 0.552000 EPB41 2035 broad.mit.edu 37 1 29391555 29391555 + Missense_Mutation SNP A A T TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr1:29391555A>T uc001brm.1 + 15 2076 c.2069A>T c.(2068-2070)AAG>ATG p.K690M EPB41_uc001brg.1_Missense_Mutation_p.K467M|EPB41_uc001brh.1_Missense_Mutation_p.K448M|EPB41_uc001bri.1_Missense_Mutation_p.K601M|EPB41_uc001brj.1_Missense_Mutation_p.K427M|EPB41_uc001brk.2_Missense_Mutation_p.K676M|EPB41_uc001brl.1_Missense_Mutation_p.K657M|EPB41_uc009vtl.1_Missense_Mutation_p.K427M|EPB41_uc009vtm.1_Missense_Mutation_p.K269M NM_203342 NP_976217 P11171 41_HUMAN erythrocyte membrane protein band 4.1 690 Spectrin--actin-binding. blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton 1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton ovary(1) 1 Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123) Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757) GAGCTGAAAAAGAACTTCATG 0.418000 POU3F1 5453 broad.mit.edu 37 1 38511541 38511541 + Missense_Mutation SNP G G T TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr1:38511541G>T uc001ccp.1 - 1 910 c.875C>A c.(874-876)ACC>AAC p.T292N NM_002699 NP_002690 Q03052 PO3F1_HUMAN POU domain, class 3, transcription factor 1 292 POU-specific. positive regulation of transcription, DNA-dependent sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) GCGGCAGATGGTGGTCTGCGA 0.627000 CHIA 27159 broad.mit.edu 37 1 111862929 111862929 + Silent SNP G G T rs35242709 byFrequency TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr1:111862929G>T uc001eas.2 + 12 1375 c.1272G>T c.(1270-1272)TCG>TCT p.S424S CHIA_uc001ear.2_Silent_p.S316S|CHIA_uc001eaq.2_Silent_p.S316S|CHIA_uc009wgc.2_Silent_p.S316S|CHIA_uc001eat.2_Silent_p.S263S|CHIA_uc001eav.2_Silent_p.S263S|CHIA_uc001eau.2_Silent_p.S263S|CHIA_uc009wgd.2_Silent_p.S263S NM_201653 NP_970615 Q9BZP6 CHIA_HUMAN acidic chitinase isoform c 424 apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus cytoplasm|extracellular space cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding ovary(1) 1 all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304) Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154) GAGGCAGCTCGGGAGGCAGTG 0.592000 CD1D 912 broad.mit.edu 37 1 158151974 158151974 + Missense_Mutation SNP T T G TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr1:158151974T>G uc001frr.2 + 4 980 c.481T>G c.(481-483)TTG>GTG p.L161V CD1D_uc009wsr.1_Missense_Mutation_p.L161V|CD1D_uc009wss.2_Missense_Mutation_p.L161V|CD1D_uc009wst.1_Missense_Mutation_p.L57V NM_001766 NP_001757 P15813 CD1D_HUMAN CD1D antigen precursor 161 Extracellular (Potential). antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection endosome membrane|integral to plasma membrane|lysosomal membrane beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding ovary(1) 1 all_hematologic(112;0.0378) TTGGGTAAACTTGGCCATTCA 0.493000 OR10R2 343406 broad.mit.edu 37 1 158449804 158449804 + Missense_Mutation SNP C C A TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr1:158449804C>A uc010pik.1 + 1 137 c.137C>A c.(136-138)GCC>GAC p.A46D uc001fso.1_RNA NM_001004472 NP_001004472 Q8NGX6 O10R2_HUMAN olfactory receptor, family 10, subfamily R, 46 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(2)|skin(1) 3 all_hematologic(112;0.0378) ATTCAGCTGGCCCTCTTTGTA 0.438000 SPTA1 6708 broad.mit.edu 37 1 158646087 158646087 + Splice_Site SNP T T G TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr1:158646087T>G uc001fst.1 - 8 1157 c.958_splice c.e8-1 p.V320_splice NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) CTCCTTCACCTTTGGGATGAA 0.423000 USH2A 7399 broad.mit.edu 37 1 215901420 215901420 + Silent SNP G G A TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr1:215901420G>A uc001hku.1 - 61 12405 c.12018C>T c.(12016-12018)CCC>CCT p.P4006P NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 4006 Fibronectin type-III 25.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TAGGATCGTCGGGTCTCTCCT 0.458000 HNSCC(13;0.011) FBXO28 23219 broad.mit.edu 37 1 224345314 224345314 + Nonsense_Mutation SNP C C T TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr1:224345314C>T uc001hoh.2 + 5 1014 c.973C>T c.(973-975)CGA>TGA p.R325* FBXO28_uc009xef.2_3'UTR|FBXO28_uc010pvc.1_Nonsense_Mutation_p.R120* NM_015176 NP_055991 Q9NVF7 FBX28_HUMAN F-box protein 28 isoform a 325 ovary(2)|kidney(2)|lung(1) 5 Breast(184;0.206) GBM - Glioblastoma multiforme(131;0.0363) ACGCAAACTACGAGAAGTAAT 0.488000 OR2AK2 391191 broad.mit.edu 37 1 248129101 248129101 + Nonsense_Mutation SNP C C A TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr1:248129101C>A uc010pzd.1 + 1 468 c.468C>A c.(466-468)TGC>TGA p.C156* OR2L13_uc001ids.2_Intron NM_001004491 NP_001004491 Q8NG84 O2AK2_HUMAN olfactory receptor, family 2, subfamily AK, 156 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) AGAAGATCTGCTGCCTCATGG 0.428000 OR2M5 127059 broad.mit.edu 37 1 248308962 248308962 + Silent SNP T T C TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr1:248308962T>C uc010pze.1 + 1 513 c.513T>C c.(511-513)TCT>TCC p.S171S NM_001004690 NP_001004690 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, 171 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|kidney(1) 3 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) ACTGTGGGTCTCGGGAAATAG 0.438000 CDH23 64072 broad.mit.edu 37 10 73544820 73544820 + Missense_Mutation SNP C C T TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr10:73544820C>T uc001jrx.3 + 41 6052 c.5675C>T c.(5674-5676)GCG>GTG p.A1892V NM_022124 NP_071407 Q9H251 CAD23_HUMAN cadherin-like 23 isoform 1 precursor 1892 Cadherin 18.|Extracellular (Potential). calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding central_nervous_system(5)|large_intestine(4)|ovary(2) 11 AACATCACTGCGGGCAACCGC 0.602000 FBXW4 6468 broad.mit.edu 37 10 103371080 103371080 + Missense_Mutation SNP T T A TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr10:103371080T>A uc001kto.2 - 9 1553 c.1207A>T c.(1207-1209)AAC>TAC p.N403Y NM_022039 NP_071322 P57775 FBXW4_HUMAN F-box and WD repeat domain containing 4 403 ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway ubiquitin ligase complex skin(1) 1 Colorectal(252;0.123) Epithelial(162;4.35e-08)|all cancers(201;1.92e-06) ACGTGGAGGTTGTAAGACAGG 0.607000 SORCS1 114815 broad.mit.edu 37 10 108389026 108389026 + Missense_Mutation SNP G G A TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr10:108389026G>A uc001kym.2 - 19 2604 c.2596C>T c.(2596-2598)CGT>TGT p.R866C SORCS1_uc001kyl.2_Missense_Mutation_p.R866C|SORCS1_uc009xxs.2_Missense_Mutation_p.R866C|SORCS1_uc001kyn.1_Missense_Mutation_p.R866C|SORCS1_uc001kyo.2_Missense_Mutation_p.R866C NM_052918 NP_443150 Q8WY21 SORC1_HUMAN SORCS receptor 1 isoform a 866 Lumenal (Potential).|PKD. integral to membrane neuropeptide receptor activity|protein binding breast(1)|central_nervous_system(1) 2 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) ACGGTCACACGGAAAATGCCC 0.478000 MRVI1 10335 broad.mit.edu 37 11 10622545 10622545 + Missense_Mutation SNP G G A TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr11:10622545G>A uc010rcc.1 - 15 2323 c.1937C>T c.(1936-1938)ACG>ATG p.T646M MRVI1_uc001miw.2_Missense_Mutation_p.T637M|MRVI1_uc010rcb.1_Missense_Mutation_p.T638M|MRVI1_uc009ygb.1_Missense_Mutation_p.T331M|MRVI1_uc001mix.2_Missense_Mutation_p.T331M|MRVI1_uc001miz.2_Missense_Mutation_p.T555M|MRVI1_uc009ygc.1_Missense_Mutation_p.T555M|MRVI1_uc010rcd.1_Missense_Mutation_p.T440M|MRVI1_uc009ygd.1_Missense_Mutation_p.T331M|MRVI1_uc010rce.1_RNA NM_001100167 NP_001093637 Q9Y6F6 MRVI1_HUMAN JAW1-related protein isoform c 619 Potential. platelet activation endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum ovary(2)|central_nervous_system(1) 3 all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723) CTTCTCATACGTCCTCTTTAG 0.517000 OR5T3 390154 broad.mit.edu 37 11 56020552 56020552 + Missense_Mutation SNP A A T TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr11:56020552A>T uc010rjd.1 + 1 877 c.877A>T c.(877-879)AGT>TGT p.S293C NM_001004747 NP_001004747 Q8NGG3 OR5T3_HUMAN olfactory receptor, family 5, subfamily T, 293 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Esophageal squamous(21;0.00448) TATGAGACCAAGTTCCAGCTA 0.398000 MTL5 9633 broad.mit.edu 37 11 68475799 68475799 + Missense_Mutation SNP A A G TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr11:68475799A>G uc001ooc.2 - 10 1644 c.1504T>C c.(1504-1506)TCT>CCT p.S502P NM_004923 NP_004914 Q9Y4I5 MTL5_HUMAN metallothionein-like 5, testis-specific isoform 502 cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis cytoplasm|nucleus|soluble fraction metal ion binding ovary(2)|breast(1) 3 Esophageal squamous(3;4.37e-12) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185) AATCCCTTAGATTTAAACTCA 0.408000 IGHMBP2 3508 broad.mit.edu 37 11 68673617 68673617 + Missense_Mutation SNP G G A TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr11:68673617G>A uc001ook.1 + 2 269 c.167G>A c.(166-168)CGC>CAC p.R56H IGHMBP2_uc001ooj.1_RNA|MRPL21_uc001ooh.2_5'Flank|MRPL21_uc001ooi.2_5'Flank|MRPL21_uc010rqe.1_5'Flank NM_002180 NP_002171 P38935 SMBP2_HUMAN immunoglobulin mu binding protein 2 56 cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation axon|growth cone|nucleus|ribonucleoprotein complex ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding 0 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) TCCAGCCAGCGCACTGGGCTG 0.587000 DLG2 1740 broad.mit.edu 37 11 84996402 84996402 + Missense_Mutation SNP T T G TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr11:84996402T>G uc001pak.2 - 4 360 c.48A>C c.(46-48)CAA>CAC p.Q16H NM_001142699 NP_001136171 Q15700 DLG2_HUMAN chapsyn-110 isoform 1 Error:Variant_position_missing_in_Q15700_after_alignment 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) CATAAAATTCTTGGATATCTG 0.323000 TRPC6 7225 broad.mit.edu 37 11 101347160 101347160 + Missense_Mutation SNP G G T TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr11:101347160G>T uc001pgk.3 - 6 2041 c.1616C>A c.(1615-1617)GCA>GAA p.A539E TRPC6_uc009ywy.2_Missense_Mutation_p.A423E|TRPC6_uc009ywz.1_Missense_Mutation_p.A484E NM_004621 NP_004612 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, 539 Helical; (Potential). axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding skin(2)|ovary(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) AATGAATGATGCTGCGAAAAT 0.408000 HINFP 25988 broad.mit.edu 37 11 119004822 119004822 + Missense_Mutation SNP C C T TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr11:119004822C>T uc001pvp.2 + 11 1357 c.1168C>T c.(1168-1170)CGG>TGG p.R390W HINFP_uc001pvq.2_Missense_Mutation_p.R390W|HINFP_uc001pvr.2_Missense_Mutation_p.R143W NM_015517 NP_056332 Q9BQA5 HINFP_HUMAN MBD2 (methyl-CpG-binding protein)-interacting 390 Interaction with NPAT.|Required for activation of histone H4 transcription and contributes to DNA- binding. DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle Cajal body enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding pancreas(2)|ovary(1)|skin(1) 4 TGGCTATATGCGGCTGCAGCT 0.567000 OREG0021397 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) NLRX1 79671 broad.mit.edu 37 11 119052840 119052840 + Missense_Mutation SNP G G A TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr11:119052840G>A uc001pvu.2 + 9 2607 c.2392G>A c.(2392-2394)GTG>ATG p.V798M NLRX1_uc001pvv.2_Missense_Mutation_p.V798M|NLRX1_uc001pvw.2_Missense_Mutation_p.V798M|NLRX1_uc001pvx.2_Missense_Mutation_p.V798M NM_024618 NP_078894 Q86UT6 NLRX1_HUMAN NLR family member X1 isoform 1 798 Required for the repression of MAVS- induced interferon signaling.|LRR 4. innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production mitochondrial outer membrane ATP binding ovary(1)|skin(1) 2 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) AGGTGTTGCCGTGCTAATGGA 0.637000 FKBP4 2288 broad.mit.edu 37 12 2910480 2910480 + Silent SNP C C T TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr12:2910480C>T uc001qkz.2 + 9 1428 c.1230C>T c.(1228-1230)CTC>CTT p.L410L NM_002014 NP_002005 Q02790 FKBP4_HUMAN FK506 binding protein 52 410 negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding axonal growth cone|cytosol|membrane|microtubule|nucleus FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging 0 OV - Ovarian serous cystadenocarcinoma(31;0.00105) Dimethyl sulfoxide(DB01093) AGAAGAAGCTCTATGCCAATA 0.562000 KRAS 3845 broad.mit.edu 37 12 25378594 25378594 + Missense_Mutation SNP C C G TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr12:25378594C>G uc001rgp.1 - 4 585 c.404G>C c.(403-405)AGA>ACA p.R135T KRAS_uc001rgq.1_Missense_Mutation_p.R135T NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 135 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 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) TCCATAACTTCTTGCTAAGTC 0.353000 119 Mis pancreatic|colorectal|lung|thyroid|AML|others Cardiofaciocutaneous_syndrome|Noonan_syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) ANO4 121601 broad.mit.edu 37 12 101333096 101333096 + Missense_Mutation SNP C C T TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr12:101333096C>T uc010svm.1 + 4 736 c.164C>T c.(163-165)GCC>GTC p.A55V ANO4_uc010svl.1_RNA|ANO4_uc001thw.2_Missense_Mutation_p.A20V|ANO4_uc001thx.2_Missense_Mutation_p.A55V NM_178826 NP_849148 Q32M45 ANO4_HUMAN anoctamin 4 55 Extracellular (Potential). chloride channel complex chloride channel activity ovary(4)|skin(2) 6 GTTCTAGTGGCCAAGGATGTC 0.378000 HNSCC(74;0.22) MYO1H 283446 broad.mit.edu 37 12 109845697 109845697 + Silent SNP C C T TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr12:109845697C>T uc010sxn.1 + 9 1086 c.1086C>T c.(1084-1086)ATC>ATT p.I362I NM_001101421 NP_001094891 Q8N1T3 MYO1H_HUMAN myosin 1H Error:Variant_position_missing_in_B4DNW6_after_alignment myosin complex motor activity 0 TCAACAAAATCAATTCCTCCT 0.423000 DGKH 160851 broad.mit.edu 37 13 42748255 42748255 + Missense_Mutation SNP C C T TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr13:42748255C>T uc001uyl.1 + 12 1448 c.1427C>T c.(1426-1428)CCT>CTT p.P476L DGKH_uc010tfh.1_Missense_Mutation_p.P476L|DGKH_uc001uym.1_Missense_Mutation_p.P476L|DGKH_uc010tfi.1_Missense_Mutation_p.P231L|DGKH_uc010tfj.1_Missense_Mutation_p.P331L|DGKH_uc001uyn.1_RNA|DGKH_uc001uyo.1_Missense_Mutation_p.P331L|DGKH_uc001uyp.2_RNA NM_178009 NP_821077 Q86XP1 DGKH_HUMAN diacylglycerol kinase, eta isoform 2 476 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization endosome|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(2) 2 Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109) CTTCCAGGACCTCCAGAAGCA 0.363000 STK24 8428 broad.mit.edu 37 13 99116043 99116043 + Silent SNP A A G TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr13:99116043A>G uc001vnm.1 - 7 1102 c.867T>C c.(865-867)AAT>AAC p.N289N STK24_uc001vnn.1_Silent_p.N277N|STK24_uc010tim.1_Silent_p.N258N NM_003576 NP_003567 Q9Y6E0 STK24_HUMAN serine/threonine kinase 24 isoform a 289 cellular component disassembly involved in apoptosis|signal transduction cytosol|nucleoplasm ATP binding|protein binding|protein serine/threonine kinase activity ovary(1)|lung(1) 2 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) TTTTCTTTGCATTGCGTAGTA 0.473000 AKAP6 9472 broad.mit.edu 37 14 33293356 33293356 + Missense_Mutation SNP T T G TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr14:33293356T>G uc001wrq.2 + 13 6507 c.6337T>G c.(6337-6339)TTA>GTA p.L2113V NM_004274 NP_004265 Q13023 AKAP6_HUMAN A-kinase anchor protein 6 2113 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1) 21 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) TTATTCGTACTTATCTCTCTC 0.473000 GALNTL1 57452 broad.mit.edu 37 14 69787487 69787487 + Silent SNP G G A TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr14:69787487G>A uc010aqu.1 + 2 330 c.237G>A c.(235-237)CTG>CTA p.L79L GALNTL1_uc001xla.1_Silent_p.L79L|GALNTL1_uc001xlb.1_Silent_p.L79L NM_020692 NP_065743 Q8N428 GLTL1_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 79 Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(1)|central_nervous_system(1) 2 all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656) CCAAGCAGCTGAAGGCTGGAG 0.592000 VASH1 22846 broad.mit.edu 37 14 77242566 77242566 + Missense_Mutation SNP G G A TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr14:77242566G>A uc001xst.2 + 5 1792 c.862G>A c.(862-864)GAT>AAT p.D288N NM_014909 NP_055724 Q7L8A9 VASH1_HUMAN vasohibin 1 288 cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation endoplasmic reticulum|extracellular space 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0283) CCTGGGCCGCGATGACTTCCG 0.552000 AXIN1 8312 broad.mit.edu 37 16 354351 354351 + Missense_Mutation SNP G G A TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr16:354351G>A uc002cgp.1 - 5 1384 c.1207C>T c.(1207-1209)CGG>TGG p.R403W AXIN1_uc002cgq.1_Missense_Mutation_p.R403W NM_003502 NP_003493 O15169 AXIN1_HUMAN axin 1 isoform a 403 Interaction with GSK3B (By similarity). activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding breast(1)|liver(1) 2 all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187) TCGGCCTCCCGCGTGCGCTGC 0.687000 MMP25 64386 broad.mit.edu 37 16 3100096 3100096 + Missense_Mutation SNP C C T TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr16:3100096C>T uc002cth.2 + 3 556 c.319C>T c.(319-321)CGG>TGG p.R107W MMP25_uc002cti.1_Missense_Mutation_p.R43W NM_022468 NP_071913 Q9NPA2 MMP25_HUMAN matrix metalloproteinase 25 preproprotein 107 Poly-Arg. inflammatory response|proteolysis anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding 0 GCGGCGTCGCCGGTACGCTCT 0.701000 ZNF200 7752 broad.mit.edu 37 16 3274181 3274181 + Missense_Mutation SNP C C T rs148762905 TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr16:3274181C>T uc002cuj.2 - 5 1531 c.899G>A c.(898-900)CGA>CAA p.R300Q ZNF200_uc002cum.3_Missense_Mutation_p.R299Q|ZNF200_uc010bti.2_Missense_Mutation_p.R299Q|ZNF200_uc002cuk.2_Missense_Mutation_p.R300Q|ZNF200_uc002cui.2_Missense_Mutation_p.R299Q|ZNF200_uc002cul.3_Missense_Mutation_p.R299Q NM_003454 NP_003445 P98182 ZN200_HUMAN zinc finger protein 200 isoform 1 300 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding 0 TGTATGAATTCGCTCATGTTT 0.418000 TAOK2 9344 broad.mit.edu 37 16 29989217 29989217 + Missense_Mutation SNP G G A TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr16:29989217G>A uc002dva.1 + 2 907 c.124G>A c.(124-126)GTA>ATA p.V42I uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Missense_Mutation_p.V42I|TAOK2_uc002dvc.1_Missense_Mutation_p.V42I|TAOK2_uc010bzm.1_Missense_Mutation_p.V42I|TAOK2_uc002dvd.1_5'Flank NM_016151 NP_057235 Q9UL54 TAOK2_HUMAN TAO kinase 2 isoform 2 42 ATP (By similarity).|Protein kinase. actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity ovary(1) 1 CTTTGGAGCCGTATACTTTGT 0.532000 ITGAX 3687 broad.mit.edu 37 16 31371109 31371109 + Silent SNP C C T TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr16:31371109C>T uc002ebu.1 + 6 586 c.519C>T c.(517-519)TTC>TTT p.F173F ITGAX_uc002ebt.2_Silent_p.F173F|ITGAX_uc010vfk.1_5'Flank NM_000887 NP_000878 P20702 ITAX_HUMAN integrin alpha X precursor 173 VWFA.|Extracellular (Potential). blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 TGATGAACTTCGTGAGAGCTG 0.582000 MYH2 4620 broad.mit.edu 37 17 10428212 10428212 + Silent SNP G G T TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr17:10428212G>T uc010coi.2 - 34 4961 c.4833C>A c.(4831-4833)ATC>ATA p.I1611I uc002gml.1_Intron|MYH2_uc002gmp.3_Silent_p.I1611I|MYH2_uc010coj.2_Intron NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 1611 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 TCCTACTCCTGATCTCAGCAT 0.468000 ITGA2B 3674 broad.mit.edu 37 17 42455111 42455111 + Silent SNP C C T TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr17:42455111C>T uc002igt.1 - 21 2174 c.2142G>A c.(2140-2142)AGG>AGA p.R714R ITGA2B_uc002igu.1_Silent_p.R195R NM_000419 NP_000410 P08514 ITA2B_HUMAN integrin alpha 2b preproprotein 714 Extracellular (Potential). axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation integrin complex|platelet alpha granule membrane identical protein binding|receptor activity ovary(2)|lung(1) 3 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.191) Tirofiban(DB00775) ACAGCACCACCCTGGTCTCAT 0.498000 B4GALNT2 124872 broad.mit.edu 37 17 47241497 47241497 + Missense_Mutation SNP C C T rs145043273 TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr17:47241497C>T uc002ion.2 + 8 1053 c.994C>T c.(994-996)CGC>TGC p.R332C B4GALNT2_uc010wlt.1_Missense_Mutation_p.R246C|B4GALNT2_uc010wlu.1_Missense_Mutation_p.R272C NM_153446 NP_703147 Q8NHY0 B4GN2_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 2 332 Lumenal (Potential). lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process integral to Golgi membrane acetylgalactosaminyltransferase activity large_intestine(1)|ovary(1) 2 all cancers(6;0.000316) GACTTTCCTCCGCCCCCACAA 0.502000 MPO 4353 broad.mit.edu 37 17 56356886 56356886 + Missense_Mutation SNP G G C TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr17:56356886G>C uc002ivu.1 - 4 723 c.546C>G c.(544-546)AAC>AAG p.N182K NM_000250 NP_000241 P05164 PERM_HUMAN myeloperoxidase 182 anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling extracellular space|lysosome|nucleus|stored secretory granule chromatin binding|heme binding|heparin binding|peroxidase activity ovary(2)|large_intestine(1)|pancreas(1) 4 Cefdinir(DB00535) AGCCGCACCTGTTGTTGCACA 0.652000 MGAT5B 146664 broad.mit.edu 37 17 74928759 74928759 + Missense_Mutation SNP G G A TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr17:74928759G>A uc002jti.2 + 10 1460 c.1357G>A c.(1357-1359)GTG>ATG p.V453M MGAT5B_uc002jth.2_Missense_Mutation_p.V442M NM_198955 NP_945193 Q3V5L5 MGT5B_HUMAN N-acetylglucosaminyltranferase VB isoform 2 442 Lumenal (Potential). Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding ovary(2)|skin(1) 3 CATGGGCTTCGTGTCCGAGGA 0.617000 MC5R 4161 broad.mit.edu 37 18 13826438 13826438 + Missense_Mutation SNP C C T TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr18:13826438C>T uc010xaf.1 + 1 674 c.674C>T c.(673-675)GCC>GTC p.A225V NM_005913 NP_005904 P33032 MC5R_HUMAN melanocortin 5 receptor 225 Cytoplasmic (Potential). ALPGASSARQRTSM -> LCPGPALRGRGPAW (in Ref. 1). G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocortin receptor activity|protein binding ovary(3)|lung(2)|breast(1) 6 CTGCCCGGGGCCAGCTCTGCG 0.622000 ZNF521 25925 broad.mit.edu 37 18 22805350 22805350 + Silent SNP T T G TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr18:22805350T>G uc002kvk.2 - 4 2779 c.2532A>C c.(2530-2532)ACA>ACC p.T844T ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Silent_p.T844T|ZNF521_uc002kvl.2_Silent_p.T624T NM_015461 NP_056276 Q96K83 ZN521_HUMAN zinc finger protein 521 844 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding ovary(4)|large_intestine(2)|lung(1) 7 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) AAGCTCCATTTGTTCCACAGT 0.478000 T PAX5 ALL PIK3C3 5289 broad.mit.edu 37 18 39618752 39618752 + Missense_Mutation SNP G G A TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr18:39618752G>A uc002lap.2 + 18 2034 c.1976G>A c.(1975-1977)CGG>CAG p.R659Q PIK3C3_uc010xcl.1_Missense_Mutation_p.R596Q|PIK3C3_uc002laq.2_Missense_Mutation_p.R144Q|PIK3C3_uc002lar.1_Missense_Mutation_p.R43Q NM_002647 NP_002638 Q8NEB9 PK3C3_HUMAN catalytic phosphatidylinositol 3-kinase 3 659 PI3K/PI4K. cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway midbody|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding lung(8)|ovary(1)|breast(1) 10 AAGCTGTTACGGAAAGAAAAT 0.289000 TSP Lung(28;0.18) ANKRD24 170961 broad.mit.edu 37 19 4219595 4219595 + Missense_Mutation SNP G G A TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr19:4219595G>A uc010dtt.1 + 19 3287 c.3011G>A c.(3010-3012)CGT>CAT p.R1004H NM_133475 NP_597732 Q8TF21 ANR24_HUMAN ankyrin repeat domain 24 1004 Potential. 0 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181) CAGGTGCAGCGTGAGGCCCTG 0.557000 MUC16 94025 broad.mit.edu 37 19 9056390 9056390 + Silent SNP A A T TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr19:9056390A>T uc002mkp.2 - 3 31260 c.31056T>A c.(31054-31056)ACT>ACA p.T10352T NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 10354 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 CTGAAGAGGAAGTTATCTCAT 0.498000 MUC16 94025 broad.mit.edu 37 19 9064152 9064152 + Missense_Mutation SNP G G A TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr19:9064152G>A uc002mkp.2 - 3 23498 c.23294C>T c.(23293-23295)GCC>GTC p.A7765V NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 7767 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 AGGATGCACGGCTTCTGTATG 0.488000 IL12RB1 3594 broad.mit.edu 37 19 18183067 18183067 + Silent SNP C C T TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr19:18183067C>T uc002nhw.1 - 9 940 c.876G>A c.(874-876)CCG>CCA p.P292P IL12RB1_uc010xqb.1_Silent_p.P292P|IL12RB1_uc002nhx.1_Silent_p.P332P|IL12RB1_uc002nhy.2_Silent_p.P292P NM_005535 NP_005526 P42701 I12R1_HUMAN interleukin 12 receptor, beta 1 isoform 1 292 Extracellular (Potential).|Fibronectin type-III 3. cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response interleukin-12 receptor complex|interleukin-23 receptor complex cytokine receptor activity pancreas(1) 1 TGGCCTTACACGGGCAGGACA 0.607000 COMP 1311 broad.mit.edu 37 19 18898331 18898331 + Silent SNP G G A TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr19:18898331G>A uc002nke.2 - 10 1140 c.1104C>T c.(1102-1104)GGC>GGT p.G368G COMP_uc002nkd.2_Silent_p.G335G|COMP_uc010xqj.1_Silent_p.G315G NM_000095 NP_000086 P49747 COMP_HUMAN cartilage oligomeric matrix protein precursor 368 Cell attachment site (Potential).|TSP type-3 4. Missing (in EDM1). anti-apoptosis|apoptosis|cell adhesion|limb development extracellular space|proteinaceous extracellular matrix calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding 0 CGCACGCATCGCCCCGGCCGT 0.687000 TSHZ3 57616 broad.mit.edu 37 19 31767522 31767522 + Silent SNP G G A TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr19:31767522G>A uc002nsy.3 - 2 3242 c.3177C>T c.(3175-3177)CAC>CAT p.H1059H NM_020856 NP_065907 Q63HK5 TSH3_HUMAN zinc finger protein 537 1059 C2H2-type 5. negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(2)|pancreas(1)|lung(1) 8 Esophageal squamous(110;0.226) TTTTGCTAAGGTGAAGTTTAA 0.468000 ZNF540 163255 broad.mit.edu 37 19 38103644 38103644 + Missense_Mutation SNP T T G TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr19:38103644T>G uc002ogq.2 + 5 1795 c.1463T>G c.(1462-1464)ATT>AGT p.I488S ZNF540_uc002ogu.2_Missense_Mutation_p.I488S|ZNF540_uc010efq.2_Missense_Mutation_p.I456S NM_152606 NP_689819 Q8NDQ6 ZN540_HUMAN zinc finger protein 540 488 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1) 1 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CATAAGAAAATTCATACTGAT 0.403000 ZNF543 125919 broad.mit.edu 37 19 57839487 57839487 + Silent SNP G G C TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr19:57839487G>C uc002qoi.1 + 4 1002 c.657G>C c.(655-657)CGG>CGC p.R219R NM_213598 NP_998763 Q08ER8 ZN543_HUMAN zinc finger protein 543 219 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1)|pancreas(1) 2 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) AGCATGAACGGATTCACACTC 0.443000 ZNF256 10172 broad.mit.edu 37 19 58452476 58452476 + Missense_Mutation SNP C C G TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr19:58452476C>G uc002qqu.2 - 3 1935 c.1700G>C c.(1699-1701)AGA>ACA p.R567T ZNF256_uc010euj.2_Missense_Mutation_p.R414T NM_005773 NP_005764 Q9Y2P7 ZN256_HUMAN zinc finger protein 256 567 C2H2-type 13. multicellular organismal development|negative regulation of transcription, DNA-dependent nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding upper_aerodigestive_tract(1)|skin(1) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155) GGTATGAACTCTTCGGTGTTT 0.453000 SLC27A5 10998 broad.mit.edu 37 19 59010878 59010878 + Missense_Mutation SNP G G A TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr19:59010878G>A uc002qtc.2 - 7 1758 c.1648C>T c.(1648-1650)CGC>TGC p.R550C SLC27A5_uc002qtb.2_5'Flank NM_012254 NP_036386 Q9Y2P5 S27A5_HUMAN solute carrier family 27 (fatty acid 550 Cytoplasmic (Probable). bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process endoplasmic reticulum membrane|integral to membrane ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity 0 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181) TCCCCGAGGCGGTCGCGGAAG 0.657000 APOB 338 broad.mit.edu 37 2 21265256 21265256 + Missense_Mutation SNP T T G TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr2:21265256T>G uc002red.2 - 3 342 c.214A>C c.(214-216)AGT>CGT p.S72R NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 72 Vitellogenin.|Heparin-binding. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CTGGTGGCACTTCTTGAATCA 0.572000 PREPL 9581 broad.mit.edu 37 2 44566387 44566387 + Missense_Mutation SNP C C T TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr2:44566387C>T uc002ruf.2 - 6 903 c.868G>A c.(868-870)GTA>ATA p.V290I PREPL_uc002rug.2_Missense_Mutation_p.V290I|PREPL_uc002ruh.2_Missense_Mutation_p.V290I|PREPL_uc010fax.2_Missense_Mutation_p.V290I|PREPL_uc002rui.3_Missense_Mutation_p.V201I|PREPL_uc002ruj.1_Missense_Mutation_p.V201I|PREPL_uc002ruk.1_Missense_Mutation_p.V290I NM_006036 NP_006027 Q4J6C6 PPCEL_HUMAN prolyl endopeptidase-like isoform C 290 proteolysis cytosol serine-type endopeptidase activity ovary(1) 1 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) TGGATAAGTACTGGTGGGTCC 0.388000 TSPYL6 388951 broad.mit.edu 37 2 54482198 54482198 + Missense_Mutation SNP C C G TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr2:54482198C>G uc002rxr.2 - 1 1212 c.1091G>C c.(1090-1092)AGG>ACG p.R364T ACYP2_uc002rxq.3_Intron NM_001003937 NP_001003937 Q8N831 TSYL6_HUMAN TSPY-like 6 364 nucleosome assembly nucleus 0 CTGAGCAATCCTGTCGGACTC 0.532000 RAB11FIP5 26056 broad.mit.edu 37 2 73316188 73316188 + Silent SNP G G C TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr2:73316188G>C uc002siu.3 - 2 928 c.687C>G c.(685-687)GGC>GGG p.G229G RAB11FIP5_uc002sit.3_Silent_p.G151G NM_015470 NP_056285 Q9BXF6 RFIP5_HUMAN RAB11 family interacting protein 5 (class I) 229 protein transport mitochondrial outer membrane|recycling endosome membrane gamma-tubulin binding 0 CTTTGGCTTTGCCCATCTTGC 0.592000 GPD2 2820 broad.mit.edu 37 2 157407168 157407168 + Missense_Mutation SNP C C T TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr2:157407168C>T uc002tzf.3 + 8 1241 c.881C>T c.(880-882)ACG>ATG p.T294M GPD2_uc010zch.1_Missense_Mutation_p.T67M|GPD2_uc002tzd.3_Missense_Mutation_p.T294M|GPD2_uc002tze.1_RNA NM_001083112 NP_001076581 P43304 GPDM_HUMAN glycerol-3-phosphate dehydrogenase 2, 294 cellular lipid metabolic process glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity ovary(1) 1 GGACCTTTCACGGACTCTGTG 0.463000 TTN 7273 broad.mit.edu 37 2 179610671 179610671 + Missense_Mutation SNP T T C TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr2:179610671T>C uc002unb.2 - 46 16680 c.16456A>G c.(16456-16458)ACT>GCT p.T5486A TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment 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) CTGCTTAAAGTCACTTTGCTT 0.423000 ERBB4 2066 broad.mit.edu 37 2 213403244 213403244 + Missense_Mutation SNP G G T TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr2:213403244G>T uc002veg.1 - 1 109 c.11C>A c.(10-12)GCG>GAG p.A4E ERBB4_uc002veh.1_Missense_Mutation_p.A4E|ERBB4_uc010zji.1_Missense_Mutation_p.A4E|ERBB4_uc010zjj.1_Missense_Mutation_p.A4E|ERBB4_uc010fut.1_Missense_Mutation_p.A4E NM_005235 NP_005226 Q15303 ERBB4_HUMAN v-erb-a erythroblastic leukemia viral oncogene 4 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) AAGTCCTGTCGCCGGCTTCAT 0.582000 TSP Lung(8;0.080) RASSF2 9770 broad.mit.edu 37 20 4771182 4771182 + Missense_Mutation SNP C C T rs145831009 byFrequency TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr20:4771182C>T uc002wld.2 - 6 506 c.452G>A c.(451-453)CGC>CAC p.R151H RASSF2_uc002wlc.2_RNA|RASSF2_uc002wle.2_RNA|RASSF2_uc002wlf.2_Missense_Mutation_p.R151H NM_170774 NP_739580 P50749 RASF2_HUMAN Ras association domain family 2 151 cell cycle|signal transduction nucleus protein binding ovary(3)|lung(2)|large_intestine(1) 6 ATTGCCACGGCGACGCACCCC 0.592000 ACSS1 84532 broad.mit.edu 37 20 25004206 25004206 + Missense_Mutation SNP C C T TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr20:25004206C>T uc002wub.2 - 4 1581 c.703G>A c.(703-705)GTG>ATG p.V235M ACSS1_uc002wuc.2_Missense_Mutation_p.V235M|ACSS1_uc010gdc.2_Intron|ACSS1_uc002wud.1_5'Flank|ACSS1_uc002wua.2_Missense_Mutation_p.V152M NM_032501 NP_115890 Q9NUB1 ACS2L_HUMAN acyl-CoA synthetase short-chain family member 1 235 acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process mitochondrial matrix acetate-CoA ligase activity|AMP binding|ATP binding|protein binding ovary(1)|skin(1) 2 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) GCCTCATCCACTATTTTCTTC 0.557000 PKIG 11142 broad.mit.edu 37 20 43243200 43243200 + Missense_Mutation SNP G G A TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr20:43243200G>A uc002xmg.2 + 5 532 c.3G>A c.(1-3)ATG>ATA p.M1I PKIG_uc002xmh.2_Missense_Mutation_p.M1I|PKIG_uc002xmi.2_Missense_Mutation_p.M1I NM_181805 NP_861521 Q9Y2B9 IPKG_HUMAN cAMP-dependent protein kinase inhibitor gamma 1 cAMP-dependent protein kinase inhibitor activity|protein binding 0 Myeloproliferative disorder(115;0.0122) Colorectal(3;0.001)|COAD - Colon adenocarcinoma(18;0.00189) CGACAGGCATGATGGAGGTCG 0.607000 KRTAP13-3 337960 broad.mit.edu 37 21 31797958 31797958 + Silent SNP A A G TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr21:31797958A>G uc002yob.1 - 1 273 c.273T>C c.(271-273)TCT>TCC p.S91S NM_181622 NP_853653 Q3SY46 KR133_HUMAN keratin associated protein 13-3 91 5 X 10 AA approximate repeats. intermediate filament ovary(1)|lung(1) 2 TAGTCAGGCAAGAATTGCAGA 0.567000 ETS2 2114 broad.mit.edu 37 21 40186841 40186841 + Missense_Mutation SNP T T A TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr21:40186841T>A uc002yxg.2 + 5 637 c.441T>A c.(439-441)TTT>TTA p.F147L ETS2_uc002yxf.2_Missense_Mutation_p.F287L NM_005239 NP_005230 P15036 ETS2_HUMAN v-ets erythroblastosis virus E26 oncogene 147 PNT. positive regulation of transcription, DNA-dependent|skeletal system development nucleus protein binding|sequence-specific DNA binding transcription factor activity ovary(1)|lung(1)|breast(1)|pancreas(1) 4 Prostate(19;6.33e-08)|all_epithelial(19;0.123) AGGAACGCTTTCTGGAGCTGG 0.512000 GAB4 128954 broad.mit.edu 37 22 17472913 17472913 + Missense_Mutation SNP A A C TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr22:17472913A>C uc002zlw.2 - 2 436 c.328T>G c.(328-330)TTC>GTC p.F110V GAB4_uc010gqs.1_Missense_Mutation_p.F110V NM_001037814 NP_001032903 Q2WGN9 GAB4_HUMAN GRB2-associated binding protein family, member 110 PH. large_intestine(1)|ovary(1) 2 all_epithelial(15;0.112)|Lung NSC(13;0.248) TTCTTGTTGAAGTTCAGAGTC 0.478000 PLA2G3 50487 broad.mit.edu 37 22 31533854 31533854 + Missense_Mutation SNP C C T TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr22:31533854C>T uc003aka.2 - 4 1037 c.908G>A c.(907-909)CGA>CAA p.R303Q NM_015715 NP_056530 Q9NZ20 PA2G3_HUMAN phospholipase A2, group III precursor 303 cilium morphogenesis|lipid catabolic process|phospholipid metabolic process centriole|extracellular space|plasma membrane calcium ion binding|calcium-dependent phospholipase A2 activity 0 CTGCTTCTGTCGAGGCTTGGG 0.657000 TRIOBP 11078 broad.mit.edu 37 22 38120424 38120424 + Nonsense_Mutation SNP C C T TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr22:38120424C>T uc003atr.2 + 7 2132 c.1861C>T c.(1861-1863)CGA>TGA p.R621* TRIOBP_uc003atu.2_Nonsense_Mutation_p.R449*|TRIOBP_uc003atq.1_Nonsense_Mutation_p.R621*|TRIOBP_uc003ats.1_Nonsense_Mutation_p.R449* NM_001039141 NP_001034230 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein isoform 6 621 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1) 1 Melanoma(58;0.0574) TAGAGCCACACGAGATAACCC 0.582000 IL17RE 132014 broad.mit.edu 37 3 9952952 9952952 + Missense_Mutation SNP A A G TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr3:9952952A>G uc003btu.2 + 12 1157 c.1040A>G c.(1039-1041)AAC>AGC p.N347S CIDEC_uc003bto.2_Intron|IL17RE_uc011atn.1_RNA|IL17RE_uc003btw.2_Missense_Mutation_p.N347S|IL17RE_uc003btx.2_Missense_Mutation_p.N231S|IL17RE_uc010hcq.2_Missense_Mutation_p.N347S|IL17RE_uc003bty.2_RNA NM_153483 NP_705616 Q8NFR9 I17RE_HUMAN interleukin 17 receptor E isoform 1 347 Extracellular (Potential). cytoplasm|extracellular region|integral to membrane receptor activity central_nervous_system(1) 1 OV - Ovarian serous cystadenocarcinoma(96;5.34e-64) TCTTTTGGAAACAGCAGCCAT 0.493000 RFTN1 23180 broad.mit.edu 37 3 16419336 16419336 + Missense_Mutation SNP A A G TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr3:16419336A>G uc003cay.2 - 5 997 c.715T>C c.(715-717)TCA>CCA p.S239P RFTN1_uc010hes.2_Missense_Mutation_p.S203P NM_015150 NP_055965 Q14699 RFTN1_HUMAN raft-linking protein 239 plasma membrane ovary(3)|central_nervous_system(1) 4 CCGGAGGGTGAGCTGGGCTGC 0.642000 SCN5A 6331 broad.mit.edu 37 3 38591857 38591857 + Silent SNP G G A TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr3:38591857G>A uc003cio.2 - 28 6200 c.6006C>T c.(6004-6006)GCC>GCT p.A2002A SCN5A_uc003cin.2_Silent_p.A2001A|SCN5A_uc003cil.3_Silent_p.A2002A|SCN5A_uc010hhi.2_Silent_p.A1984A|SCN5A_uc010hhk.2_Silent_p.A1969A|SCN5A_uc011ayr.1_Silent_p.A1948A NM_198056 NP_932173 Q14524 SCN5A_HUMAN voltage-gated sodium channel type V alpha 2002 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1) 9 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) GGGGGAAGTCGGCGAGATCTT 0.592000 LRIG1 26018 broad.mit.edu 37 3 66430710 66430710 + Missense_Mutation SNP G G C TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr3:66430710G>C uc003dmx.2 - 19 3273 c.3259C>G c.(3259-3261)CTG>GTG p.L1087V SLC25A26_uc011bft.1_RNA|LRIG1_uc011bfu.1_Missense_Mutation_p.L707V|LRIG1_uc003dmw.2_Missense_Mutation_p.L753V|LRIG1_uc010hnz.2_Missense_Mutation_p.L803V|LRIG1_uc010hoa.2_Missense_Mutation_p.L1064V NM_015541 NP_056356 Q96JA1 LRIG1_HUMAN leucine-rich repeats and immunoglobulin-like 1087 Cytoplasmic (Potential). integral to membrane skin(3)|ovary(2) 5 Lung NSC(201;0.0101) BRCA - Breast invasive adenocarcinoma(55;0.00047) GCCAACAGCAGTGGCACCCTC 0.547000 TMPRSS7 344805 broad.mit.edu 37 3 111799889 111799889 + Silent SNP C C T TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr3:111799889C>T uc010hqb.2 + 16 2282 c.2112C>T c.(2110-2112)AAC>AAT p.N704N TMPRSS7_uc011bhr.1_Silent_p.N559N NM_001042575 NP_001036040 Q7RTY8 TMPS7_HUMAN transmembrane protease, serine 7 830 Extracellular (Potential).|Peptidase S1. proteolysis integral to membrane|plasma membrane serine-type endopeptidase activity ovary(1)|kidney(1) 2 GGGTGTCAAACTTTGTTCCCT 0.353000 GOLGB1 2804 broad.mit.edu 37 3 121448138 121448138 + Missense_Mutation SNP G G A TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr3:121448138G>A uc003eei.3 - 4 425 c.299C>T c.(298-300)GCG>GTG p.A100V GOLGB1_uc010hrc.2_Missense_Mutation_p.A100V|GOLGB1_uc003eej.3_Missense_Mutation_p.A61V|GOLGB1_uc011bjm.1_Missense_Mutation_p.A61V|GOLGB1_uc010hrd.1_Missense_Mutation_p.A100V NM_004487 NP_004478 Q14789 GOGB1_HUMAN golgi autoantigen, golgin subfamily b, 100 Potential.|Cytoplasmic (Potential). Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding ovary(6)|breast(2)|skin(2) 10 GBM - Glioblastoma multiforme(114;0.0989) TTTGGCCTTCGCATGAAGTTT 0.363000 EPHB1 2047 broad.mit.edu 37 3 134920329 134920329 + Missense_Mutation SNP A A T TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr3:134920329A>T uc003eqt.2 + 12 2364 c.2144A>T c.(2143-2145)CAG>CTG p.Q715L EPHB1_uc003equ.2_Missense_Mutation_p.Q276L NM_004441 NP_004432 P54762 EPHB1_HUMAN ephrin receptor EphB1 precursor 715 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 AATGACGGGCAGTTCACCGTG 0.527000 PLSCR5 389158 broad.mit.edu 37 3 146311762 146311762 + Missense_Mutation SNP G G C TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr3:146311762G>C uc003ewb.2 - 4 1402 c.398C>G c.(397-399)ACA>AGA p.T133R PLSCR5_uc010hvb.2_Missense_Mutation_p.T121R|PLSCR5_uc010hvc.2_Missense_Mutation_p.T133R NM_001085420 NP_001078889 A0PG75 PLS5_HUMAN phospholipid scramblase family, member 5 133 0 CCTGTTCACTGTAATGACCTC 0.463000 NMD3 51068 broad.mit.edu 37 3 160945104 160945104 + Missense_Mutation SNP G G C TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr3:160945104G>C uc003feb.1 + 4 368 c.249G>C c.(247-249)TTG>TTC p.L83F NMD3_uc003fec.2_Missense_Mutation_p.L83F|NMD3_uc003fed.1_Missense_Mutation_p.L83F NM_015938 NP_057022 Q96D46 NMD3_HUMAN NMD3 homolog 83 protein transport cytoplasm|nucleolus|nucleoplasm ovary(1) 1 Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156) CTTTGTGCTTGAAAAAAATCA 0.343000 WDR49 151790 broad.mit.edu 37 3 167254760 167254760 + Missense_Mutation SNP A A G TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr3:167254760A>G uc003fev.1 - 7 1102 c.796T>C c.(796-798)TTC>CTC p.F266L WDR49_uc003feu.1_Missense_Mutation_p.F91L|WDR49_uc011bpd.1_Missense_Mutation_p.F330L|WDR49_uc003few.1_Intron NM_178824 NP_849146 Q8IV35 WDR49_HUMAN WD repeat domain 49 266 large_intestine(1)|ovary(1)|skin(1) 3 AATTGATTGAAGTTTTGGGGT 0.393000 LPP 4026 broad.mit.edu 37 3 188327328 188327328 + Missense_Mutation SNP G G C TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr3:188327328G>C uc003frs.1 + 6 1055 c.809G>C c.(808-810)GGC>GCC p.G270A LPP_uc011bsg.1_Intron|LPP_uc011bsi.1_Missense_Mutation_p.G270A|LPP_uc003frt.2_Missense_Mutation_p.G270A|LPP_uc011bsj.1_Missense_Mutation_p.G107A NM_005578 NP_005569 Q93052 LPP_HUMAN LIM domain containing preferred translocation 270 Pro-rich. cell adhesion cytoplasm|focal adhesion|nucleus protein binding|zinc ion binding HMGA2/LPP(161) soft_tissue(134)|bone(27)|lung(2)|ovary(1)|breast(1) 165 all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088) all_lung(153;0.00139)|Lung NSC(153;0.00202) GBM - Glioblastoma multiforme(93;0.00602) ACACGGGGAGGCATGGATTAT 0.557000 T HMGA2|MLL|C12orf9 lipoma|leukemia ATP13A5 344905 broad.mit.edu 37 3 193007764 193007764 + Missense_Mutation SNP A A T TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr3:193007764A>T uc011bsq.1 - 26 2933 c.2933T>A c.(2932-2934)TTT>TAT p.F978Y NM_198505 NP_940907 Q4VNC0 AT135_HUMAN ATPase type 13A5 978 Helical; (Potential). ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding 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) GGAATTCAAAAATATTGAAAG 0.433000 ZNF518B 85460 broad.mit.edu 37 4 10445492 10445492 + Missense_Mutation SNP A A C TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr4:10445492A>C uc003gmn.2 - 3 2948 c.2461T>G c.(2461-2463)TCA>GCA p.S821A NM_053042 NP_444270 Q9C0D4 Z518B_HUMAN zinc finger protein 518B 821 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|upper_aerodigestive_tract(1) 4 TGTAAGTCTGAGTCCGCCTGT 0.468000 CWH43 80157 broad.mit.edu 37 4 49005981 49005981 + Silent SNP C C T rs151323921 TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr4:49005981C>T uc003gyv.2 + 7 1214 c.1032C>T c.(1030-1032)TAC>TAT p.Y344Y CWH43_uc011bzl.1_Silent_p.Y317Y NM_025087 NP_079363 Q9H720 PG2IP_HUMAN cell wall biogenesis 43 C-terminal homolog 344 GPI anchor biosynthetic process integral to membrane skin(2)|ovary(1) 3 GAGGTGTCTACGCTAGAGAAA 0.393000 LPHN3 23284 broad.mit.edu 37 4 62903555 62903555 + Missense_Mutation SNP G G A TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr4:62903555G>A uc010ihh.2 + 21 3667 c.3494G>A c.(3493-3495)CGC>CAC p.R1165H LPHN3_uc003hcq.3_Missense_Mutation_p.R1165H|LPHN3_uc003hct.2_Missense_Mutation_p.R549H NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN latrophilin 3 precursor 1143 Cytoplasmic (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1) 18 ACTCCTGGACGCTACTCCACA 0.413000 CXCL9 4283 broad.mit.edu 37 4 76924788 76924788 + Missense_Mutation SNP C C T rs139830877 TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr4:76924788C>T uc003hjh.1 - 4 380 c.341G>A c.(340-342)CGA>CAA p.R114Q NM_002416 NP_002407 Q07325 CXCL9_HUMAN small inducible cytokine B9 precursor 114 cell-cell signaling|cellular defense response|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response extracellular space chemokine activity ovary(1) 1 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) TTGAGATTTTCGAACTTTCAG 0.338000 IRX1 79192 broad.mit.edu 37 5 3599410 3599410 + Silent SNP T T C TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr5:3599410T>C uc003jde.2 + 2 400 c.348T>C c.(346-348)GCT>GCC p.A116A NM_024337 NP_077313 P78414 IRX1_HUMAN iroquois homeobox protein 1 116 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|pancreas(1) 2 CGGCGCCGGCTTATTACCCCT 0.652000 FBXL7 23194 broad.mit.edu 37 5 15928114 15928114 + Silent SNP C C T TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr5:15928114C>T uc003jfn.1 + 3 724 c.243C>T c.(241-243)ACC>ACT p.T81T NM_012304 NP_036436 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 81 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity ovary(2)|lung(1) 3 CCTCCATCACCGGGGAGACGG 0.657000 SLC45A2 51151 broad.mit.edu 37 5 33951726 33951726 + Silent SNP G G A rs148156477 TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr5:33951726G>A uc003jid.2 - 5 1181 c.1089C>T c.(1087-1089)TAC>TAT p.Y363Y SLC45A2_uc003jie.2_Silent_p.Y363Y|SLC45A2_uc003jif.3_3'UTR|SLC45A2_uc011coe.1_3'UTR NM_016180 NP_057264 Q9UMX9 S45A2_HUMAN membrane-associated transporter protein isoform 363 Extracellular (Potential). melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception integral to membrane|melanosome membrane ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 CTCCTCTTTCGTAGATGAGAA 0.453000 C5orf33 133686 broad.mit.edu 37 5 36226645 36226645 + Missense_Mutation SNP C C T TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr5:36226645C>T uc003jkf.3 - 3 410 c.410G>A c.(409-411)CGT>CAT p.R137H C5orf33_uc010iux.2_5'Flank|C5orf33_uc003jkg.3_5'UTR|C5orf33_uc011cov.1_5'UTR NM_001085411 NP_001078880 Q4G0N4 NAKD1_HUMAN hypothetical protein LOC133686 isoform 1 137 NAD+ kinase activity 0 all_lung(31;5.63e-05) Epithelial(62;0.0254)|all cancers(62;0.0805)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CTTTACTAGACGAACCTCAAT 0.378000 ELOVL7 79993 broad.mit.edu 37 5 60050537 60050537 + Missense_Mutation SNP G G T TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr5:60050537G>T uc003jsi.3 - 9 960 c.760C>A c.(760-762)CTC>ATC p.L254I ELOVL7_uc011cqo.1_Missense_Mutation_p.L167I|ELOVL7_uc010iwk.2_Missense_Mutation_p.L254I|ELOVL7_uc003jsj.3_Missense_Mutation_p.L241I NM_024930 NP_079206 A1L3X0 ELOV7_HUMAN elongation of very long chain fatty acids-like 254 Helical; (Potential). fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane fatty acid elongase activity|protein binding 0 Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481) CAAAAATGGAGAAAGAGCAGC 0.398000 MAST4 375449 broad.mit.edu 37 5 66459277 66459277 + Missense_Mutation SNP G G A TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr5:66459277G>A uc003jut.1 + 28 3771 c.3703G>A c.(3703-3705)GTC>ATC p.V1235I MAST4_uc003juw.2_Missense_Mutation_p.V1163I|MAST4_uc003jux.2_5'Flank NM_015183 NP_055998 O15021 MAST4_HUMAN microtubule associated serine/threonine kinase 1427 cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) GCCCACCATCGTCAGACACAT 0.637000 CMYA5 202333 broad.mit.edu 37 5 79034738 79034738 + Missense_Mutation SNP T T A TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr5:79034738T>A uc003kgc.2 + 2 10222 c.10150T>A c.(10150-10152)TTT>ATT p.F3384I NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 3384 perinuclear region of cytoplasm ovary(6)|pancreas(2)|lung(1) 9 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) GGAGGAAGAATTTGCATCTGG 0.488000 CEP120 153241 broad.mit.edu 37 5 122724246 122724246 + Nonsense_Mutation SNP G G C TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr5:122724246G>C uc003ktk.2 - 10 1392 c.1310C>G c.(1309-1311)TCA>TGA p.S437* CEP120_uc011cwq.1_Nonsense_Mutation_p.S246*|CEP120_uc010jcz.1_Nonsense_Mutation_p.S411* NM_153223 NP_694955 Q8N960 CE120_HUMAN coiled-coil domain containing 100 437 centrosome ovary(1) 1 AGCTACTTCTGAAGCATTGGA 0.388000 SLC36A2 153201 broad.mit.edu 37 5 150723122 150723122 + Missense_Mutation SNP G G A TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr5:150723122G>A uc003lty.2 - 3 423 c.293C>T c.(292-294)GCC>GTC p.A98V GM2A_uc011dcs.1_Intron|SLC36A2_uc003ltz.2_RNA|SLC36A2_uc003lua.2_5'UTR|SLC36A2_uc010jhv.2_Missense_Mutation_p.A98V|SLC36A2_uc011dct.1_Missense_Mutation_p.A98V NM_181776 NP_861441 Q495M3 S36A2_HUMAN solute carrier family 36, member 2 98 Helical; (Potential). cellular nitrogen compound metabolic process cytoplasm|integral to membrane|plasma membrane glycine transmembrane transporter activity ovary(1)|central_nervous_system(1) 2 Medulloblastoma(196;0.109)|all_hematologic(541;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ACAGTGGCAGGCAATGAAGCC 0.527000 CYFIP2 26999 broad.mit.edu 37 5 156810315 156810315 + Missense_Mutation SNP A A C TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr5:156810315A>C uc003lwq.2 + 30 3293 c.3155A>C c.(3154-3156)AAG>ACG p.K1052T CYFIP2_uc011ddn.1_Missense_Mutation_p.K1026T|CYFIP2_uc011ddo.1_Missense_Mutation_p.K856T|CYFIP2_uc003lwr.2_Missense_Mutation_p.K1052T|CYFIP2_uc003lws.2_Missense_Mutation_p.K1052T|CYFIP2_uc003lwt.2_Missense_Mutation_p.K955T|CYFIP2_uc011ddp.1_Missense_Mutation_p.K786T|CYFIP2_uc003lwv.2_Missense_Mutation_p.K7T NM_001037333 NP_001032410 Q96F07 CYFP2_HUMAN cytoplasmic FMR1 interacting protein 2 1077 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding 0 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CTGGAAGCCAAGTATGCCCCG 0.522000 HIST1H2AE 3012 broad.mit.edu 37 6 26217233 26217233 + Missense_Mutation SNP G G A TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr6:26217233G>A uc003nha.1 + 1 86 c.31G>A c.(31-33)GCT>ACT p.A11T HIST1H2BG_uc003ngz.2_5'Flank NM_021052 NP_066390 P04908 H2A1B_HUMAN histone cluster 1, H2ae 11 nucleosome assembly nucleosome|nucleus DNA binding ovary(1)|skin(1) 2 all_hematologic(11;0.196) AGGCGGCAAAGCTCGGGCAAA 0.517000 GPR110 266977 broad.mit.edu 37 6 46979887 46979887 + Silent SNP T T C TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr6:46979887T>C uc003oyt.2 - 10 1171 c.972A>G c.(970-972)TCA>TCG p.S324S GPR110_uc011dwl.1_Silent_p.S12S NM_153840 NP_722582 Q5T601 GP110_HUMAN G-protein coupled receptor 110 isoform 1 324 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(2)|pancreas(1) 3 GCACGAAGGATGACACAGCTG 0.423000 GFRAL 389400 broad.mit.edu 37 6 55223692 55223692 + Missense_Mutation SNP C C G TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr6:55223692C>G uc003pcm.1 + 6 794 c.708C>G c.(706-708)CAC>CAG p.H236Q NM_207410 NP_997293 Q6UXV0 GFRAL_HUMAN GDNF family receptor alpha like precursor 236 Extracellular (Potential). integral to membrane receptor activity ovary(1)|breast(1) 2 Lung NSC(77;0.0875)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) CTAGGAGGCACTATAGAACAT 0.383000 ROS1 6098 broad.mit.edu 37 6 117642553 117642553 + Nonsense_Mutation SNP C C T TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr6:117642553C>T uc003pxp.1 - 35 5845 c.5646G>A c.(5644-5646)TGG>TGA p.W1882* ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Nonsense_Mutation_p.W194* NM_002944 NP_002935 P08922 ROS_HUMAN proto-oncogene c-ros-1 protein precursor 1882 Helical; (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) ATCTTCTATGCCAGACTATAA 0.363000 T GOPC|ROS1 glioblastoma|NSCLC DNAH11 8701 broad.mit.edu 37 7 21847621 21847621 + Missense_Mutation SNP G G T TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr7:21847621G>T uc003svc.2 + 64 10338 c.10307G>T c.(10306-10308)CGC>CTC p.R3436L NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 3436 microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 AGGCAGTATCGCCAGGAGCTG 0.468000 Kartagener_syndrome GTF2IRD1 9569 broad.mit.edu 37 7 74005258 74005258 + Missense_Mutation SNP C C T TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr7:74005258C>T uc003uaq.2 + 24 2941 c.2548C>T c.(2548-2550)CGG>TGG p.R850W GTF2IRD1_uc010lbq.2_Missense_Mutation_p.R867W|GTF2IRD1_uc003uap.2_Missense_Mutation_p.R835W|GTF2IRD1_uc003uar.1_Missense_Mutation_p.R835W NM_016328 NP_057412 Q9UHL9 GT2D1_HUMAN GTF2I repeat domain containing 1 isoform 1 850 GTF2I-like 5. nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity ovary(4) 4 CATCCCCTTCCGGAACCCCAA 0.617000 CLDN12 9069 broad.mit.edu 37 7 90042682 90042682 + Missense_Mutation SNP C C T TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr7:90042682C>T uc003ukp.2 + 5 1328 c.692C>T c.(691-693)TCT>TTT p.S231F CLDN12_uc003ukq.2_Missense_Mutation_p.S231F|CLDN12_uc010leq.2_Missense_Mutation_p.S231F|CLDN12_uc003ukr.2_Missense_Mutation_p.S231F|CLDN12_uc003uks.2_Missense_Mutation_p.S231F NM_012129 NP_036261 P56749 CLD12_HUMAN claudin 12 231 Cytoplasmic (Potential). calcium-independent cell-cell adhesion|tight junction assembly integral to membrane|tight junction identical protein binding|structural molecule activity 0 TCTCGCCTCTCTGCCATTGAA 0.438000 TAS2R16 50833 broad.mit.edu 37 7 122634836 122634836 + Missense_Mutation SNP T T C TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr7:122634836T>C uc003vkl.1 - 1 919 c.853A>G c.(853-855)AGG>GGG p.R285G NM_016945 NP_058641 Q9NYV7 T2R16_HUMAN taste receptor T2R16 285 Cytoplasmic (Potential). detection of chemical stimulus involved in sensory perception of bitter taste endoplasmic reticulum|external side of plasma membrane|trans-Golgi network bitter taste receptor activity|protein binding ovary(1)|skin(1) 2 TTTAGAATCCTTTTCAACGTA 0.418000 POT1 25913 broad.mit.edu 37 7 124532403 124532403 + Missense_Mutation SNP A A G TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr7:124532403A>G uc003vlm.2 - 6 642 c.41T>C c.(40-42)CTG>CCG p.L14P POT1_uc011koe.1_RNA|POT1_uc003vlk.2_RNA|POT1_uc003vll.2_RNA|POT1_uc003vlo.2_5'UTR|POT1_uc003vln.2_RNA NM_015450 NP_056265 Q9NUX5 POTE1_HUMAN protection of telomeres 1 isoform 1 14 DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase nuclear telomere cap complex|nucleoplasm DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity central_nervous_system(1) 1 AAGTTGATTCAGGGGTGTATA 0.333000 GRM8 2918 broad.mit.edu 37 7 126173574 126173574 + Missense_Mutation SNP A A G TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr7:126173574A>G uc003vlr.2 - 8 2173 c.1862T>C c.(1861-1863)CTT>CCT p.L621P GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.L621P|GRM8_uc010lkz.1_RNA NM_000845 NP_000836 O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 isoform a 621 Helical; Name=2; (Potential). negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1) 23 Prostate(267;0.186) L-Glutamic Acid(DB00142) CACGTAACTAAGTTCGCGTCC 0.453000 HNSCC(24;0.065) CNTNAP2 26047 broad.mit.edu 37 7 146997238 146997238 + Missense_Mutation SNP G G A TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr7:146997238G>A uc003weu.1 + 9 1870 c.1354G>A c.(1354-1356)GGG>AGG p.G452R NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 452 Extracellular (Potential).|Laminin G-like 2. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) ACCAGGTTCTGGGTTGAATGA 0.373000 HNSCC(39;0.1) UBE3C 9690 broad.mit.edu 37 7 157046671 157046671 + Silent SNP G G A TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr7:157046671G>A uc010lqs.2 + 20 3030 c.2718G>A c.(2716-2718)GGG>GGA p.G906G UBE3C_uc003wni.3_Silent_p.G269G NM_014671 NP_055486 Q15386 UBE3C_HUMAN ubiquitin protein ligase E3C 906 HECT. protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus|proteasome complex protein binding|ubiquitin-protein ligase activity ovary(2)|lung(2)|large_intestine(1) 5 all_hematologic(28;0.0185)|all_epithelial(9;0.0664) OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.19) AATTCGGTGGGAAAGACATCC 0.453000 ADCY8 114 broad.mit.edu 37 8 131916210 131916210 + Missense_Mutation SNP C C A TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr8:131916210C>A uc003ytd.3 - 7 1975 c.1719G>T c.(1717-1719)AGG>AGT p.R573S ADCY8_uc010mds.2_Missense_Mutation_p.R573S NM_001115 NP_001106 P40145 ADCY8_HUMAN adenylate cyclase 8 573 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding skin(4)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) GGAATTCATTCCTCTCTTTAC 0.463000 HNSCC(32;0.087) PSIP1 11168 broad.mit.edu 37 9 15468792 15468792 + Missense_Mutation SNP A A C TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr9:15468792A>C uc003zlv.3 - 14 1586 c.1256T>G c.(1255-1257)TTG>TGG p.L419W PSIP1_uc003zlw.3_Missense_Mutation_p.L419W NM_033222 NP_150091 O75475 PSIP1_HUMAN PC4 and SFRS1 interacting protein 1 isoform 2 419 initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|nucleoplasm|transcriptionally active chromatin activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity breast(1) 1 GBM - Glioblastoma multiforme(50;2.38e-06) CTTGTTATACAACATTGTAGA 0.343000 TAF1L 138474 broad.mit.edu 37 9 32632187 32632187 + Missense_Mutation SNP T T C TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr9:32632187T>C uc003zrg.1 - 1 3481 c.3391A>G c.(3391-3393)AAA>GAA p.K1131E uc003zrh.1_5'Flank NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN TBP-associated factor RNA polymerase 1-like 1131 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1) 26 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) GAGCTGGTTTTCTTGTTCTGC 0.468000 FLJ46321 389763 broad.mit.edu 37 9 84603746 84603746 + Missense_Mutation SNP C C G TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr9:84603746C>G uc004amn.2 + 1 60 c.13C>G c.(13-15)CTC>GTC p.L5V NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN hypothetical protein LOC389763 5 integral to membrane 0 GGAGAATATCCTCTGTTTTCT 0.507000 PAPPA 5069 broad.mit.edu 37 9 119114988 119114988 + Missense_Mutation SNP A A G TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr9:119114988A>G uc004bjn.2 + 16 4349 c.3968A>G c.(3967-3969)AAC>AGC p.N1323S PAPPA_uc011lxq.1_Missense_Mutation_p.N698S NM_002581 NP_002572 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A 1323 Sushi 2. cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding ovary(4)|skin(4)|pancreas(1) 9 CTTCCAGGCAACAACAGCCTC 0.547000 PAPPA 5069 broad.mit.edu 37 9 119115107 119115107 + Nonsense_Mutation SNP C C T TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr9:119115107C>T uc004bjn.2 + 16 4468 c.4087C>T c.(4087-4089)CGA>TGA p.R1363* PAPPA_uc011lxq.1_Nonsense_Mutation_p.R738* NM_002581 NP_002572 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A 1363 Sushi 3. cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding ovary(4)|skin(4)|pancreas(1) 9 CGCCCGGTGCCGAGAGAATAA 0.572000 GAPVD1 26130 broad.mit.edu 37 9 128074745 128074745 + Missense_Mutation SNP A A C TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr9:128074745A>C uc010mwx.2 + 9 1782 c.1456A>C c.(1456-1458)AGC>CGC p.S486R GAPVD1_uc011lzs.1_Missense_Mutation_p.S486R|GAPVD1_uc004bpp.2_Missense_Mutation_p.S486R|GAPVD1_uc004bpq.2_Missense_Mutation_p.S486R|GAPVD1_uc004bpr.2_Missense_Mutation_p.S486R|GAPVD1_uc004bps.2_Missense_Mutation_p.S486R|GAPVD1_uc010mwy.1_Missense_Mutation_p.S345R NM_015635 NP_056450 Q14C86 GAPD1_HUMAN GTPase activating protein and VPS9 domains 1 486 endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction cytosol|endosome|membrane GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity ovary(2)|central_nervous_system(1)|skin(1) 4 TCGGAGCAGAAGCCGCACCAA 0.338000 SPTAN1 6709 broad.mit.edu 37 9 131353798 131353798 + Missense_Mutation SNP C C T TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr9:131353798C>T uc004bvl.3 + 22 3162 c.3049C>T c.(3049-3051)CCG>TCG p.P1017S SPTAN1_uc011mbg.1_Missense_Mutation_p.P1017S|SPTAN1_uc011mbh.1_Missense_Mutation_p.P1029S|SPTAN1_uc004bvm.3_Missense_Mutation_p.P1017S|SPTAN1_uc004bvn.3_Missense_Mutation_p.P1017S NM_003127 NP_003118 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 1017 SH3. P -> S (in a breast cancer sample; somatic mutation). actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton p.P1017S(1) breast(5)|ovary(4)|pancreas(1) 10 GGGTTTTGTGCCGGCTGCGTA 0.522000 VAV2 7410 broad.mit.edu 37 9 136648670 136648670 + Missense_Mutation SNP C C T TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chr9:136648670C>T uc004ces.2 - 19 1724 c.1678G>A c.(1678-1680)GGG>AGG p.G560R VAV2_uc004cer.2_Missense_Mutation_p.G550R|VAV2_uc004cet.1_Missense_Mutation_p.G99R NM_001134398 NP_001127870 P52735 VAV2_HUMAN vav 2 guanine nucleotide exchange factor isoform 560 Phorbol-ester/DAG-type. angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol metal ion binding|Rho guanyl-nucleotide exchange factor activity central_nervous_system(3)|ovary(2)|lung(2)|breast(1) 8 OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06) TTGTGTGCCCCGACGCCACAC 0.632000 MID1 4281 broad.mit.edu 37 X 10450560 10450560 + Missense_Mutation SNP G G A TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chrX:10450560G>A uc004cte.3 - 5 1164 c.973C>T c.(973-975)CAT>TAT p.H325Y MID1_uc004ctd.3_Missense_Mutation_p.H36Y|MID1_uc004ctg.3_Missense_Mutation_p.H325Y|MID1_uc004cth.3_Missense_Mutation_p.H287Y|MID1_uc004ctk.3_Missense_Mutation_p.H325Y|MID1_uc004cti.3_Missense_Mutation_p.H325Y|MID1_uc004ctj.3_Missense_Mutation_p.H325Y|MID1_uc011mie.1_RNA|MID1_uc004ctm.1_Missense_Mutation_p.H376Y|MID1_uc004ctn.1_Missense_Mutation_p.H325Y|MID1_uc004cto.1_Missense_Mutation_p.H287Y|MID1_uc010ndw.1_Missense_Mutation_p.H36Y|MID1_uc004cts.1_Missense_Mutation_p.H92Y|MID1_uc004ctt.2_Missense_Mutation_p.H376Y|MID1_uc004ctu.2_Missense_Mutation_p.H325Y|MID1_uc004ctv.2_Missense_Mutation_p.H338Y|MID1_uc004ctw.2_Missense_Mutation_p.H287Y|MID1_uc010ndy.1_Missense_Mutation_p.H289Y|MID1_uc004ctc.3_Missense_Mutation_p.H92Y|MID1_uc004ctp.1_Intron|MID1_uc004ctq.1_Missense_Mutation_p.H92Y|MID1_uc004ctr.1_Missense_Mutation_p.H92Y|MID1_uc010ndu.1_Missense_Mutation_p.H92Y|MID1_uc010ndv.1_Missense_Mutation_p.H36Y|MID1_uc010ndx.1_RNA NM_033290 NP_150632 O15344 TRI18_HUMAN midline 1 325 COS. microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade cytoplasm|microtubule|microtubule associated complex|spindle ligase activity|ubiquitin protein ligase binding|zinc ion binding ovary(2)|pancreas(1) 3 AAACGCGCATGATCATTCTCC 0.527000 FAM48B2 170067 broad.mit.edu 37 X 24330059 24330059 + Missense_Mutation SNP C C G TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chrX:24330059C>G uc011mjw.1 - 1 1374 c.1374G>C c.(1372-1374)GAG>GAC p.E458D NM_001136233 NP_001129705 P0C7V6 F48B2_HUMAN family with sequence similarity 48, member B2 458 0 GTGGATGTTTCTCTCCCTTCC 0.552000 NAP1L3 4675 broad.mit.edu 37 X 92928030 92928030 + Silent SNP A A G TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chrX:92928030A>G uc004efq.2 - 1 579 c.274T>C c.(274-276)TTG>CTG p.L92L FAM133A_uc004efr.1_5'Flank NM_004538 NP_004529 Q99457 NP1L3_HUMAN nucleosome assembly protein 1-like 3 92 nucleosome assembly chromatin assembly complex ovary(1)|skin(1) 2 TTTGTTCCCAACGGGGCCCGC 0.398000 KLHL13 90293 broad.mit.edu 37 X 117033040 117033040 + Missense_Mutation SNP C C T TCGA-BR-6705-01A-12D-1882-08 TCGA-BR-6705-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02c5e07a-0986-4860-b192-0cf8d4fce7ce ba6c6e1c-d481-4e30-a777-a943c3566d4b g.chrX:117033040C>T uc004eql.2 - 7 1861 c.1799G>A c.(1798-1800)CGT>CAT p.R600H KLHL13_uc004eqk.2_Missense_Mutation_p.R549H|KLHL13_uc011mtn.1_Missense_Mutation_p.R440H|KLHL13_uc011mto.1_Missense_Mutation_p.R594H|KLHL13_uc011mtp.1_Missense_Mutation_p.R602H|KLHL13_uc004eqm.2_Missense_Mutation_p.R549H|KLHL13_uc011mtq.1_Missense_Mutation_p.R584H NM_033495 NP_277030 Q9P2N7 KLH13_HUMAN kelch-like 13 600 Kelch 6. cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex kidney(1)|skin(1) 2 TACCATACAACGATTATTCCA 0.438000